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Gene: Adcy3 MGI:99675

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Gene Summary

Name:
adenylate cyclase 3
Synonyms:
AC3,  ACIII

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lean body mass Adcy3tm1a(EUCOMM)Wtsi HET Early adult 2.66×10-05
preweaning lethality, incomplete penetrance Adcy3tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased hemoglobin content Adcy3tm1a(EUCOMM)Wtsi HET Early adult 2.77×10-05
increased total body fat amount Adcy3tm1a(EUCOMM)Wtsi HET Early adult 8.49×10-05
increased hematocrit Adcy3tm1a(EUCOMM)Wtsi HET Early adult 2.74×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images
Adcy3tm1a(EUCOMM)Wtsi
narrow eye opening, eye, HET, Female, WTSI
Adcy3tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Adcy3tm1a(EUCOMM)Wtsi
eye, abnormal eye morphology, corneal opacity, eye opacity, HET, Female, WTSI

Human diseases caused by Adcy3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Adcy3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Anosmia, Hyperinsulinemia, Obesity, Increased serum leptin,... OMIM:617885

The table below shows human diseases predicted to be associated to Adcy3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Obesity, Primary ameno... OMIM:610628
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Musk, Inability To Smell
Anosmia OMIM:254150
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Abnormality of the sense of sm... OMIM:146110
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular ... OMIM:614858
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland... OMIM:612702
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity, Abnormality of the kidney OMIM:615988
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hormone level, Dec... OMIM:614897
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Frontotemporal dementia, Frontal lobe dementia, Irritability, Deme... OMIM:600274
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Small scrotum, Hypogon... OMIM:308700
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Anosmia, Pri... OMIM:616030
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Bifid nose, Hyposmia, Micropenis, Decreased testicular size OMIM:614838
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Absence of pubertal d... OMIM:614837
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion... OMIM:172700
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Anosmia, Primary amenor... OMIM:244200
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Micropenis, Decreased... OMIM:614841
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia, Hypogonadism, Absence of pubertal development OMIM:615267
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Anosmia, Primary amenorrh... OMIM:618841
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Obesity, Renal cyst OMIM:615987
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia, Hypogonadism, Delayed puberty OMIM:615270
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Decreased... ORPHA:314811
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicu... OMIM:614880
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Choanal atresia, Cryptorchidism, Anosmia, Primary amenorrhea, Dela... OMIM:147950
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Anosmia, Hypogonadotropic hypogonadism OMIM:612370
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Aural Atresia, Congenital
Hyposmia OMIM:607842
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Hypergonadotropic hypogonadism, Azoospermia, Elevated ... OMIM:613724
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum OMIM:302950
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Bardet-Biedl Syndrome 19
Renal insufficiency, External genital hypoplasia, Obesity, Renal hypoplasia, Hypogonadism, Hyposm... OMIM:615996
Huntington Disease
Bradyphrenia, Aggressive behavior, Oral-pharyngeal dysphagia, Mental deterioration, Depression, M... ORPHA:399
Bardet-Biedl Syndrome 17
Polyuria, Anosmia, Obesity, Renal cyst, Stage 5 chronic kidney disease, Hypogonadism, Hyposmia, M... OMIM:615994
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... OMIM:228300
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Anosmia, Hyperinsulinemia, Obesity, Increased serum leptin,... OMIM:617885
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis ORPHA:85274
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... ORPHA:33543
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II diabetes mellitus, Child... ORPHA:71529
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... ORPHA:90795
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hor... OMIM:614839
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Decrease... OMIM:614842
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase... OMIM:615703
Bardet-Biedl Syndrome 5
Micropenis, Hypogonadism, Obesity, External genital hypoplasia OMIM:615983
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, External genital hypoplasia, Obesity, Renal cyst, Stage 5 ch... OMIM:615993
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age ORPHA:356996
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Septo-optic dysplasia, Anterior pituitary hypoplasia, Maternal diabetes, Opt... ORPHA:3157
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent upper respiratory tract infections, Obesity, Primary amenorrhea... OMIM:614962
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Bulbous nose, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicu... ORPHA:261483
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Johnson Neuroectodermal Syndrome
Choanal atresia, Facial palsy, Bulbous nose, Anosmia, Hypogonadism, Failure to thrive ORPHA:2316
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Erythrocytosis, Familial, 2
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin OMIM:263400
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Anosmia, Abnormal nostril morp... ORPHA:1295
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Increased ... ORPHA:90791
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity OMIM:309585
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Abnormalit... ORPHA:1135
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal d... ORPHA:324575
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity, Infertility, Oligomenorrhea OMIM:604931
Leptin Receptor Deficiency
Abnormal eating behavior, Aggressive behavior, Recurrent upper respiratory tract infections, Abno... OMIM:614963
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Abnormal... ORPHA:320
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Obesity, Renal cyst, Hypo... OMIM:615982
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Apparent Mineralocorticoid Excess
Small for gestational age, Hypokalemia, Failure to thrive, Decreased circulating aldosterone leve... OMIM:218030
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia ORPHA:329249
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Ciliary Dyskinesia, Primary, 41
Infertility, Recurrent sinusitis, Immotile sperm OMIM:618449
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Obesity ORPHA:3055
Combined Oxidative Phosphorylation Deficiency 34
Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone concentration, P... OMIM:617872
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Incre... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula... OMIM:202010
Bardet-Biedl Syndrome 7
Depressed nasal bridge, Hypogonadism, Obesity OMIM:615984
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Polyphagia, Inappropriate laughter ORPHA:411515
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age, Increased serum serotonin ORPHA:85288
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decrease... ORPHA:2234
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Broad nasal tip... OMIM:300148
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Renal cortica... ORPHA:231632
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ... ORPHA:276608
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal testis morphology, Hypogonadism, Decreased fertility, Obesity ORPHA:2233
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Kleine-Levin Hibernation Syndrome
Polyphagia, Confusion OMIM:148840
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease, Obesity OMIM:615995
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Abnormalit... OMIM:616113
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis... OMIM:103900
Kufor-Rakeb Syndrome
Aggressive behavior, Anosmia, Bradykinesia, Dementia, Dysphagia, Hyposmia OMIM:606693
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit hyperactivity disorder, Hyperi... ORPHA:35878
Peroxisome Biogenesis Disorder 9B
Elevated circulating phytanic acid concentration, Anosmia, Total anosmia OMIM:614879
Retinitis Pigmentosa
Hypoplasia of penis, Anteverted nares, Hyperinsulinemia, Wide nasal bridge, Obesity, Optic atroph... ORPHA:791
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty ORPHA:141333
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was... OMIM:610600
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... ORPHA:369873
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... ORPHA:276580
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Bardet-Biedl Syndrome 14
Renal insufficiency, Obesity OMIM:615991
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Abnormal circul... ORPHA:556037
Preeclampsia
Increased body mass index, Small for gestational age, Abnormality of the kidney, Proteinuria, Chr... ORPHA:275555
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H... OMIM:262400
Liddle Syndrome 1
Renal insufficiency, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating ... OMIM:177200
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Ciliary Dyskinesia, Primary, 1
Male infertility, Nasal polyposis, Anosmia, Chronic rhinitis OMIM:244400
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Hyperostosis Cranialis Interna
Hyposmia, Optic atrophy, Anosmia, Facial palsy OMIM:144755
14Q11.2 Microduplication Syndrome
Depressed nasal bridge, Aggressive behavior, Wide nasal bridge, Attention deficit hyperactivity d... ORPHA:261229
Bardet-Biedl Syndrome 8
Renal dysplasia, Hypogonadism, Obesity, Hypospadias OMIM:615985
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... ORPHA:231625
Indifference To Pain, Congenital, Autosomal Recessive
Urinary incontinence, Anosmia, Abnormal nerve conduction velocity, Abnormal autonomic nervous sys... OMIM:243000
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Abnormal circul... ORPHA:556030
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A... ORPHA:85450
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea OMIM:184700
Young-Onset Parkinson Disease
Restless legs, Short attention span, Impulsivity, Depression, Frontal lobe dementia, Bradykinesia... ORPHA:2828
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula... OMIM:613677
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... ORPHA:231580
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me... ORPHA:79085
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Obesity OMIM:620195
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Renal agenesis, Partial anosmia, Total anosmia, Bilateral cryptorc... ORPHA:2326
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Fasting hypoglycem... ORPHA:276575
Chromosome 22Q13 Duplication Syndrome
Short attention span, Anteverted nares, Impulsivity, Narrow nasal ridge, Attention deficit hypera... OMIM:615538
Refsum Disease, Classic
Elevated circulating phytanic acid concentration, Anosmia, Abnormal renal physiology OMIM:266500
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Lateral ventricle dilata... OMIM:607485
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia, Abnormal cranial nerve morphology ORPHA:2057
Gorlin Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Wide nasal bridge, Abnormality of the sense of smell ORPHA:377
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Bulbous nose, Increased circulating gonadotropin level... OMIM:300869
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Orthostatic hypotens... ORPHA:95409
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Choanal s... OMIM:201750
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
8P11.2 Deletion Syndrome
Hypoplasia of penis, Depressed nasal bridge, Hypogonadotropic hypogonadism, Cryptorchidism, Anosm... ORPHA:251066
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Mic... ORPHA:85282
Temple Syndrome
Wide nose, Hypertriglyceridemia, Depressed nasal bridge, Anteverted nares, Maturity-onset diabete... OMIM:616222
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435660
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Anosmia, Delayed puberty, Micropenis OMIM:619718
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity, External genital hypoplasia OMIM:615981
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge, Frontalis muscle weakness OMIM:210745
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Single naris, Anosmia, Absent n... ORPHA:2250
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi... OMIM:601198
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:85138
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435651
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Anosmia OMIM:601152
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia ORPHA:79084
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thr... OMIM:203400
Intellectual Developmental Disorder, X-Linked 91
Short nose, Obesity OMIM:300577
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... ORPHA:3085
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Broad nasal tip, Obesity, Enuresis, Short nose OMIM:613670
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis OMIM:301900
46,Xy Sex Reversal 4
Renal dysplasia, Anteverted nares, Hypergonadotropic hypogonadism, Prominent nose, Depressed nasa... OMIM:154230
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Wilson-Turner Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Truncal obesity, Broad nasal tip ORPHA:3459
Liddle Syndrome 2
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
Holoprosencephaly
Hyponatremia, Aplasia/Hypoplasia involving the nose, Diabetes mellitus, Anteverted nares, Choanal... ORPHA:2162
Laurence-Moon Syndrome
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Obesity, Type II diabetes mellitus, Dis... ORPHA:2377
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Primary ameno... OMIM:615300
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Hernández-Aguirre Negrete Syndrome
Bulbous nose, Obesity, Delayed puberty ORPHA:2139
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Bulbous nose, Obesity OMIM:300238
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... OMIM:194072
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level OMIM:614492
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Primary hyperaldosteronism, Hypokalemia, Nephrolithiasis, Decreased circulating renin level OMIM:615474
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Truncal obesity, Premature ovarian insufficiency ORPHA:2928
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Waardenburg Syndrome, Type 4C
Aganglionic megacolon, Cryptorchidism, Anosmia, Hypogonadism OMIM:613266
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Hypergonadotropic hypogonadism, Dysplastic corpus callosum, Obesity, Primary a... OMIM:619737
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Wide nasal bridge, Wide nasal base, Polyphagia, Self-mutilation OMIM:616521
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Autism, Susceptibility To, X-Linked 6
Obesity, Underdeveloped nasal alae OMIM:300872
Narcolepsy Type 1
Obesity ORPHA:2073
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity, External genital hypoplasia ORPHA:177910
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... ORPHA:171876
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth... OMIM:147250
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... OMIM:177735
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... ORPHA:49041
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Choanal atresia, Hypospadias, Cryptorchidism, Anosmia, Primary ame... OMIM:603457
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, Depressed nasal bridge, Anteverted nares, Maturity-onset diabetes of the young, Small ... ORPHA:96184
Hydrolethalus
Cryptorchidism, Agenesis of corpus callosum, Abnormal fallopian tube morphology, Abnormality of t... ORPHA:2189
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, Obesity, External genital hypoplasia ORPHA:363741
6Q16 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Bulbous nose, Abnormal temper tantrums, Polyphagia ORPHA:171829
Intellectual Developmental Disorder, Autosomal Dominant 1
Short attention span, Aggressive behavior, Prominent nose, Bulbous nose, Depressed nasal ridge, S... OMIM:156200
Atkin-Flaitz Syndrome
Macroorchidism, Anteverted nares, Obesity, Broad nasal tip ORPHA:1193
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Prominent nasal bridge, Abnormality of the kidney, Renal agenesis, Protein... ORPHA:261222
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Obesity OMIM:618124
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Short nose, Polymicrogyria, Poly... OMIM:618774
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Refsum Disease
Renal insufficiency, Anosmia ORPHA:773
Pseudohypoparathyroidism, Type Ic
Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone concentration, Pseudohyp... OMIM:612462
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Anteverted nares, Hypospadias, Renal agenesis, Cryptorchidism, Obesity, R... ORPHA:171839
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Obesity OMIM:300209
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hyperkale... ORPHA:427
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Hypogonadism, Nephronophth... OMIM:616629
Ciliary Dyskinesia, Primary, 34
Male infertility, Recurrent sinusitis, Chronic rhinitis, Immotile sperm OMIM:617091
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Elevated circulating creatinine concentration, Hypoalbuminemia, Neonatal death, D... OMIM:608104
Chung-Jansen Syndrome
Cryptorchidism, Short nose, Anteverted nares, Obesity OMIM:617991
Wagro Syndrome
Aggressive behavior, Agitation, Low frustration tolerance, Compulsive behaviors, Impaired social ... OMIM:612469
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis... ORPHA:398079
Megalencephaly
Macroorchidism, Truncal obesity, Long penis, Wide nasal bridge ORPHA:2477
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
11P15.4 Microduplication Syndrome
Anteverted nares, Obesity ORPHA:300305
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... ORPHA:2298
Trisomy 18P
Polyphagia, Wide nasal bridge, Attention deficit hyperactivity disorder, Underdeveloped nasal alae ORPHA:1715
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... OMIM:241150
Autosomal Recessive Spastic Paraplegia Type 46
Urinary incontinence, Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased t... ORPHA:320391
Man1B1-Cdg
Wide nose, Prominent nose, Periventricular heterotopia, Wide nasal bridge, Polyphagia, Underdevel... ORPHA:397941
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Prominent nasal bridge, Cryptorchidism, Abnormality of the ureter, Obesity, ... ORPHA:3409
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Depressed nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, Obesity... OMIM:614613
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Prominent nasal bridge, Cryptorchidism, Obesit... ORPHA:110
Renal Hypoplasia, Bilateral
Hyponatremia, Small for gestational age, Proteinuria, Microscopic hematuria, Cryptorchidism, Chro... ORPHA:97362
48,Xxyy Syndrome
Hypoplasia of penis, Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Azoospermia, Infert... ORPHA:10
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Bardet-Biedl Syndrome 9
Truncal obesity, Renal insufficiency, Irregular menstruation, Obesity OMIM:615986
Meningioma
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... ORPHA:2495
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Obesity ORPHA:893
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Marcus-Gunn Syndrome
Nephrolithiasis, Abnormal fifth cranial nerve morphology, Choanal atresia, Abnormality of the sen... ORPHA:91412
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Depressed nasal bridge, Hypospadias, Cryptorchidism, Bulbous nose, Simplified gyral pattern, Abdo... OMIM:300354
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Bulbous nose, Obesity ORPHA:85286
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Renal dysplasia, Elevated circulating creatinine concentration, Abnorm... OMIM:616733
Cornelia De Lange Syndrome 5
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Broad nasal tip, Cryptorchidism... OMIM:300882
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Renal Cysts And Diabetes Syndrome
Renal cyst, Atretic vas deferens, Hypospadias, Abnormality of the kidney, Elevated circulating cr... OMIM:137920
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Clark-Baraitser syndrome
Anteverted nares, Broad nasal tip, Obesity, Macroorchidism, Tall stature OMIM:300602
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Cryptorchidism, Obesity OMIM:615633
Ciliary Dyskinesia, Primary, 46
Recurrent sinusitis, Reduced sperm motility OMIM:619436
Hereditary Late-Onset Parkinson Disease
Impulsivity, Depression, Bradykinesia, Dementia, Agitation, Low frustration tolerance, Dysphagia,... ORPHA:411602
Bartter Syndrome Type 4
Hyponatremia, Small for gestational age, Renal salt wasting, Increased urinary potassium, Impaire... ORPHA:89938
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Pseudohypoparathyroidism, Type Ia
Depressed nasal bridge, Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Hypogonadism, Eleva... OMIM:103580
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Depressed nasal bridge, Attention deficit hyperactivity disorder, Compulsiv... ORPHA:444002
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Anteverted nares, Abnormality of the endocrine system, Cryptorchidism, Depressed nasal ridge, Pse... ORPHA:464288
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
East Syndrome
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... ORPHA:199343
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Wide nose, Obesity ORPHA:276630
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating creatinine concent... ORPHA:230
Ciliary Dyskinesia, Primary, 26
Rhinitis, Infertility, Recurrent sinusitis, Reduced sperm motility OMIM:615500
Joubert Syndrome 37
Wide nose, Anteverted nares, Cryptorchidism, Wide nasal bridge, Obesity, Hydronephrosis, Micropen... OMIM:619185
Gaisböck Syndrome
Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Increased... ORPHA:90041
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Lead Poisoning
Decreased HDL cholesterol concentration, Decreased female libido, Small for gestational age, Abno... ORPHA:330015
Superficial Siderosis
Partial anosmia, Anosmia, Dementia, Cognitive impairment, Memory impairment, Dysgyria ORPHA:247245
Solitary Fibrous Tumor
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss ORPHA:2126
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... OMIM:614723
Trisomy 5P
Hypoplasia of penis, Obesity, Renal hypoplasia/aplasia ORPHA:1742
Oligomeganephronia
Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Glomerulo... ORPHA:2260
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... OMIM:617056
Monosomy 13Q34
Metrorrhagia, Prominent nasal bridge, Epistaxis, Broad nasal tip, Prominent nose, Hypercalcemia, ... ORPHA:96168
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Reduced sperm motility OMIM:602271
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperactivity, Reduced intraabdominal adipose tissue, Insuli... ORPHA:363400
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
8Q21.11 Microdeletion Syndrome
Wide nose, Hypoplasia of penis, Underdeveloped nasal alae, Cryptorchidism, Abnormality of the sen... ORPHA:284160
48,Xxxy Syndrome
Renal dysplasia, Hypoplasia of penis, Small scrotum, Cryptorchidism, Depressed nasal ridge, Obesi... ORPHA:96263
Charge Syndrome
Bifid scrotum, Depressed nasal bridge, Hypogonadotropic hypogonadism, Choanal atresia, Facial pal... ORPHA:138
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testostero... ORPHA:247768
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr... OMIM:601678
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Micropenis, Childhood-onset truncal obesity OMIM:610156
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... OMIM:619927
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Ciliary Dyskinesia, Primary, 18
Male infertility, Rhinitis, Recurrent sinusitis, Immotile sperm OMIM:614874
Morm Syndrome
Truncal obesity, Micropenis, Abnormality of the kidney ORPHA:75858
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Congenital hypothyroidism ORPHA:88643
Luscan-Lumish Syndrome
Shyness, Polyphagia, Long nose, Aggressive behavior OMIM:616831
15Q24 Microdeletion Syndrome
Depressed nasal bridge, Prominent nasal bridge, Decreased response to growth hormone stimulation ... ORPHA:94065
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Wide nose, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Hypercholesterolemia ORPHA:254531
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... OMIM:608836
Schaaf-Yang Syndrome
Skin-picking, Polyphagia, Impulsivity OMIM:615547
Pediatric-Onset Graves Disease
Hyperactivity, Irritability, Emotional lability, Polydipsia, Polyphagia ORPHA:525731
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98754
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Gitelman Syndrome
Polyuria, Renal magnesium wasting, Hypomagnesemia, Enuresis, Hypokalemia, Increased circulating r... OMIM:263800
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... OMIM:214700
Summitt Syndrome
Obesity OMIM:272350
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Wide nose, Prominent nasal bridge, Convex nasal ridge, Aggressive behavior, Emotion... ORPHA:251028
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98793
Hsd10 Disease
Short attention span, Abnormal social behavior, Dysphagia ORPHA:391417
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Cryptorchidism, Abnormality of neuronal mig... OMIM:300957
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury ORPHA:54057
Hypotonia-Cystinuria Syndrome
Depressed nasal bridge, Polyphagia OMIM:606407
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Chronic rhinitis, Immotile sperm OMIM:612650
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620126
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177904
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Pancreatic islet-... ORPHA:263455
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177901
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620125
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:91355
Ciliary Dyskinesia, Primary, 11
Recurrent sinusitis, Chronic rhinitis, Reduced sperm motility OMIM:612649
Rafiq Syndrome
Wide nose, Prominent nose, Bulbous nose, Wide nasal bridge, Obesity, Truncal obesity, Underdevelo... OMIM:614202
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... OMIM:614736
Progressive Supranuclear Palsy
Impulsivity, Depression, Abnormal synaptic transmission, Bradykinesia, Dementia, Cognitive impair... ORPHA:683
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Rhinitis, Infertility, Recurrent sinusitis, Reduced sperm motility OMIM:615444
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... OMIM:162000
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Truncal obesity, Concave nasal ridge, Hypogonadism, Failure to thrive,... ORPHA:73272
Idiopathic Intracranial Hypertension
Focal sensory seizure with olfactory features, Papilledema, Obesity ORPHA:238624
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Magel2-Related Prader-Willi-Like Syndrome
Narrow nasal bridge, Impulsivity, Abnormal temper tantrums, Compulsive behaviors, Skin-picking, C... ORPHA:398069
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Anteverted nares, Broad nasal tip, Abnormal repetitive mannerisms, Bruxism, Wide n... OMIM:615873
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Vesicoureteral reflux, Obesity, Hyposmia, Micropenis, Pelvic kidney, Hydronephrosis OMIM:618653
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia OMIM:620085
Down Syndrome
Depressed nasal bridge, Aganglionic megacolon, Renal hypoplasia/aplasia, Depressed nasal ridge, D... ORPHA:870
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Obesity, Short nose, Low hanging columella OMIM:617752
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614376
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Summitt Syndrome
Wide nose, Depressed nasal ridge, Obesity, Tall stature ORPHA:3210
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... ORPHA:79233
Congenital Myopathy 9A
Cryptorchidism, Obesity OMIM:618822
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Penile freckling, Large for gestational age, Obesity, Hydrocele testis, O... OMIM:605309
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Obesity, Increased circulating ACTH level, Nephrolithiasis, Hypokalemia, Abdom... OMIM:219090
Moebius Syndrome
Hypogonadotropic hypogonadism, Facial palsy, Abnormality of the sense of smell ORPHA:570
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Alstrom Syndrome
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hypergonadotr... OMIM:203800
Nephronophthisis 15
Obesity, Nephronophthisis OMIM:614845
Adiposis Dolorosa
Obesity OMIM:103200
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased circulating re... OMIM:612780
Ciliary Dyskinesia, Primary, 15
Nasal polyposis, Infertility, Immotile sperm OMIM:613808
Coach Syndrome 2
Agenesis of corpus callosum, Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Angelman Syndrome
Hyperactivity, Aggressive behavior, Tongue thrusting, Self-injurious behavior, Inappropriate laug... ORPHA:72
13Q12.3 Microdeletion Syndrome
Underdeveloped nasal alae, Cryptorchidism, Obesity, Low insertion of columella, Failure to thrive ORPHA:412035
Laron Syndrome
Aplasia/Hypoplasia involving the nose, Hypoplastic nasal bridge, Hypoplasia of penis, Abnormality... ORPHA:633
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Nasal congestion, Optic disc pallor, Reduced sperm motility OMIM:615434
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Polyuria, Renal sa... OMIM:241200
Pseudohypoparathyroidism, Type Ib
Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone le... OMIM:603233
Spastic Paraplegia 11, Autosomal Recessive
Urinary incontinence, Obesity, Urinary urgency, Urinary bladder sphincter dysfunction, Agenesis o... OMIM:604360
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hydronephrosis, Hypogonadism, Vag... OMIM:615989
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:151660
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Wide nasal bridge, Congenital hypothyroidism ORPHA:352530
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Bulbous nose, Obesity ORPHA:480907
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
External genital hypoplasia, Broad nasal tip, Bulbous nose, Truncal obesity, Hypogonadism, Microp... ORPHA:3041
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Wilson Disease
Hypoparathyroidism, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouri... OMIM:277900
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Hypoplasia of penis, Anteverted nares, Renal insufficiency, Cryptorchidism, Ob... ORPHA:96147
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... ORPHA:2457
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Prader-Willi Syndrome
Narrow nasal bridge, Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth h... OMIM:176270
Rhizomelic Limb Shortening With Dysmorphic Features
Stage 1 chronic kidney disease, Wide nasal bridge, Obesity OMIM:618821
Relapsing Fever
Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulating creatinine... ORPHA:91547
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Slender build, Attention deficit hyperactivity disorder, Recurrent hand flapping, ... OMIM:617600
Xp22.13P22.2 Duplication Syndrome
Broad nasal tip, Recurrent upper respiratory tract infections, Flared nostrils, Polycystic ovarie... ORPHA:284180
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Anteverted nares, Depressed nasal bridge, Aggressive behavior, Narcolepsy, Recurrent upper respir... ORPHA:293987
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Obesity ORPHA:3077
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fas... OMIM:246200
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, Anteverted nares, Convex nasal ridge, Obesity ORPHA:1035
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity, Short nose ORPHA:2429
Leprechaunism
Wide nose, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis, Hy... ORPHA:508
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Chromosome 16P13.3 Deletion Syndrome, Proximal
Abnormality of the kidney, Prominent nose, Obesity, Failure to thrive, Convex nasal ridge, Low ha... OMIM:610543
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... ORPHA:280365
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Adnp Syndrome
Depressed nasal bridge, Aggressive behavior, Oral-pharyngeal dysphagia, Recurrent upper respirato... ORPHA:404448
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Acro-Renal-Mandibular Syndrome
Renal hypoplasia/aplasia, Bicornuate uterus, Uterus didelphys, Abnormality of the sense of smell ORPHA:958
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Chronic rhinitis, Immotile sperm OMIM:242670
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Truncal obesity, Hypogonadism, Decreased test... ORPHA:127
Carpenter Syndrome
Abnormal reproductive system morphology, Cryptorchidism, Obesity, External genital hypoplasia ORPHA:65759
Galactokinase Deficiency
Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Failur... ORPHA:79237
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Microtriplication 11Q24.1
Wide nose, Obesity, Hyperlipidemia ORPHA:289522
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... OMIM:609152
Osteopetrosis, Autosomal Recessive 9
Papilledema, Stage 3 chronic kidney disease, Hyperparathyroidism, Elevated circulating creatinine... OMIM:620366
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... OMIM:214800
19P13.12 Microdeletion Syndrome
Narrow nasal bridge, Anteverted nares, Hypospadias, Precocious puberty, Cryptorchidism, Hyperlipi... ORPHA:254346
Pseudohypoparathyroidism Type 1C
Depressed nasal bridge, Confusion, Depression, Irritability, Polyphagia ORPHA:79444
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Immunodeficiency 61
Obesity, Recurrent sinusitis OMIM:300310
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism, Obesity OMIM:300055
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Smith-Magenis Syndrome
Hypertriglyceridemia, Depressed nasal bridge, Anteverted nares, Failure to thrive in infancy, Ren... ORPHA:819
Amoebiasis Due To Free-Living Amoebae
Restlessness, Confusion, Abnormal hypothalamus morphology, Irritability, Hyposmia, Lethargy ORPHA:68
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Polyphagia ORPHA:251004
Campomelic Dysplasia
Depressed nasal bridge, Male pseudohermaphroditism, Abnormality of the sense of smell, Ambiguous ... ORPHA:140
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Gangliocytoma
Dementia, Polyphagia ORPHA:251937
Congenital Generalized Lipodystrophy
Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Adipose tissue loss, Insulin res... ORPHA:528
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Depressed nasal bridge, Prominent nose, Bulbous nose, Obesity, Organic aciduria, Prominent nasal ... OMIM:620191
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... OMIM:608747
Leopard Syndrome 1
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Aplasia of the ovary, Depressed nasal rid... OMIM:151100
Retinal Dystrophy And Obesity
Peripapillary atrophy, Obesity OMIM:616188
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia OMIM:605231
Silver-Russell Syndrome
Abnormality of male external genitalia, Failure to thrive in infancy, Hypospadias, Cachexia, Prec... ORPHA:813
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Broad nasal tip, Polyphagia, Simplified gyral ... ORPHA:96121
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Hypospadias, Prominent nose, Cryptorchidism, Obesity, Elevated circulatin... ORPHA:439822
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Baralle-Macken Syndrome
Urinary incontinence, Obesity OMIM:619255
Bardet-Biedl Syndrome 3
Obesity, External genital hypoplasia, Renal hypoplasia OMIM:600151
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Bardet-Biedl Syndrome 21
Overweight, Obesity, Horseshoe kidney OMIM:617406
Ciliary Dyskinesia, Primary, 5
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis, Reduced sperm motility OMIM:608647
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Optic atrophy, Obesity OMIM:614651
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Prominent nasal bridge, Unilateral renal agenesis, Broad nasal tip, Long nose,... OMIM:616541
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Rett Syndrome
Agitation, Increased serum leptin, Failure to thrive, Abnormal repetitive mannerisms, Stereotypic... ORPHA:778
Lacrimoauriculodentodigital Syndrome
Choanal atresia, Cryptorchidism, Anosmia, Renal hypoplasia, Bicornuate uterus, Vesicoureteral ref... ORPHA:2363
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Frequent temper tantrums, Atten... OMIM:620141
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Craniopharyngioma
Enlarged pituitary gland, Papilledema, Abnormal nasal bone morphology, Hypogonadotropic hypogonad... ORPHA:54595
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose, Obesity OMIM:611936
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Bardet-Biedl Syndrome 20
Papilledema, Hypercholesterolemia, Proteinuria, Bilateral cryptorchidism, Obesity, Male hypogonad... OMIM:619471
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares, Obesity OMIM:619854
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Cachexia, Prominent nose, Obesity, Hypogonadism, Decreased testicular size ORPHA:85293
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal ... OMIM:615980
Weaver Syndrome
Lateral ventricle dilatation, Polyphagia, Depressed nasal bridge OMIM:277590
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Pseudopseudohypoparathyroidism
Depressed nasal bridge, Pseudohypoparathyroidism, Obesity OMIM:612463
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Anteverted nares, Type II diabetes mellitus, Obesity ORPHA:3191
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Obesity, Short columella, Proportionate tall stature, Neuroendocrine neoplasm ORPHA:404443
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Chromosome 2Q37 Deletion Syndrome
Wide nose, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Obesity, Hypothyroidism OMIM:600430
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Pseudohypoparathyroidism Type 1A
Depressed nasal bridge, Confusion, Depression, Irritability, Polyphagia ORPHA:79443
Radio-Tartaglia Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Precocious puberty, Bulbous nos... OMIM:619312
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Memory impairment, Narcolepsy, Dementia, Depression OMIM:604121
Laurence-Moon Syndrome
Micropenis, Small scrotum, Obesity OMIM:245800
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... OMIM:608594
Microcephalic Primordial Dwarfism, Dauber Type
Obesity, Primary amenorrhea, Prominent nose ORPHA:319675
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nose, Bulbous nose, Wide nasal bridge, Obesity ORPHA:2180
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Prominent nasal tip, Nail-biting, Aggressive behavior, Broad nasal tip, Hair-pulling, Polyphagia,... OMIM:620330
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Urinary incontinence, Obesity ORPHA:464282
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Anteverted nares, Hypospadias, Cryptorchidism, Obesity,... ORPHA:261494
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Perlman Syndrome
Inguinal hernia, Hyperinsulinemia, Femoral hernia ORPHA:2849
Kleefstra Syndrome 1
Anteverted nares, Hypospadias, Cryptorchidism, Abnormal renal morphology, Obesity, Micropenis OMIM:610253
X-Linked Intellectual Disability, Stevenson Type
Thick nasal alae, Broad columella, Tall stature, Obesity ORPHA:85325
Multiple Myeloma
Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Abnormality of the bla... ORPHA:29073
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... OMIM:613090
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Primary Ciliary Dyskinesia
Male infertility, Nasal polyposis, Female infertility, Nasal congestion, Chronic rhinitis, Abnorm... ORPHA:244
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Diabetes mellitus, Anteverted nares, Small scrotum, External genital hypoplasia, Cryptorchidism, ... OMIM:614231
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia OMIM:616488
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism,... ORPHA:95496
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Proteinuria, Dysplastic corpus callosum, Chronic kidney disease, Tu... ORPHA:488627
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Aapoaiv Amyloidosis
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep... ORPHA:439232
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Decreased fertility, Renal hypoplasia, Abnormality ... ORPHA:3138
Bardet-Biedl Syndrome 1
Diabetes mellitus, Aganglionic megacolon, Abnormality of the kidney, Nephrogenic diabetes insipid... OMIM:209900
8P23.1 Microdeletion Syndrome
Hypospadias, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Obesity, Weight loss, Sho... ORPHA:251071
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Failure to thrive, Increased mean corpuscular volume OMIM:612561
Carpenter Syndrome 1
Hydroureter, Depressed nasal bridge, External genital hypoplasia, Precocious puberty, Cryptorchid... OMIM:201000
Early-Onset Autosomal Dominant Alzheimer Disease
Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abnormal soc... ORPHA:1020
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Epistaxis, Glomerulonephritis, Chronic kidney disease, Hyperkalemia, Elevate... ORPHA:340
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... ORPHA:424
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Partial agenesis of the corpus callosum, Wide nasal bridge, Obesity, Overgrowth, Short nose, Agen... OMIM:620250
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Wide nasal bridge OMIM:613192
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea... OMIM:269700
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Bulbous nose, Obesity, Short nose, Tall stature OMIM:618430
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, Failure to thrive, HbH hemoglobin, Microcytic anemia ORPHA:98791
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Wide nose, Anteverted nares, Obesity OMIM:619056
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid... ORPHA:79445
Retinitis Pigmentosa 51
Obesity, Abnormality of the kidney OMIM:613464
Rabin-Pappas Syndrome
Hyponatremia, Failure to thrive in infancy, Optic nerve hypoplasia, Broad nasal tip, Obesity, Wid... OMIM:620155
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... OMIM:274150
Secondary Short Bowel Syndrome
Polyphagia ORPHA:95427
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... ORPHA:85327
Chops Syndrome
Anteverted nares, Cryptorchidism, Optic atrophy, Obesity, Horseshoe kidney, Vesicoureteral reflux... OMIM:616368
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Irregular... ORPHA:264580
Choreoacanthocytosis
Bradyphrenia, Short attention span, Self-mutilation of tongue and lips due to involuntary movemen... ORPHA:2388
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Truncal obesity, Obesity OMIM:618363
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... ORPHA:542323
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Obesity, Tall stature OMIM:618089
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hyperalaninemia, Elevated circulating creatine kinase concentration, Obesity OMIM:615418
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Irregular... ORPHA:79240
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Overweight, Umbilical hernia, Persistence of hemoglobin F, Hiatus hernia OMIM:619769
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Prominent nasal bridge, Urinary incontinence, Pineal cys... OMIM:618885
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Anteverted nares, Hypogonadotropic hypogonadism, Decreased response to growt... ORPHA:177907
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Obesity, Nephronophthisis OMIM:615630
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Cryptorchidism, Disproportionate tall stature, Abdominal obesity OMIM:301039
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... ORPHA:247353
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hypothyroidism, Self-inju... ORPHA:449291
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Aggressive behavior, Narcolepsy, Mental deterioration, Depr... ORPHA:646
Chromosome 1P36 Deletion Syndrome, Distal
Depressed nasal bridge, Aggressive behavior, Polymicrogyria, Depressed nasal ridge, Wide nasal br... OMIM:607872
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... OMIM:614098
Blue Diaper Syndrome
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei... ORPHA:94086
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Obesity, Gray matter heterot... OMIM:608624
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Convex nasal ridge, Optic nerve hypoplasia, Optic atrophy, Renal hypoplasia, Micropenis, Abdomina... OMIM:619321
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... ORPHA:1359
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:248370
Mpi-Cdg
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Cohen Syndrome
Failure to thrive in infancy, Prominent nasal bridge, Cryptorchidism, Optic atrophy, Obesity, Del... ORPHA:193
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Memory impairment, Narcolepsy, Mental deterioration, Depression ORPHA:314404
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... ORPHA:86816
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Bloom Syndrome
Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Diabetes m... ORPHA:125
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Elevated circulating creatinine concentration, Increased blood urea nitr... OMIM:223900
Atypical Werner Syndrome
Failure to thrive, Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentration, Ins... ORPHA:79474
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Insulin resistance, Flexion contracture, Hyperinsulinemia, Dysphagia, Failure to t... OMIM:613327
Marbach-Schaaf Neurodevelopmental Syndrome
Enuresis nocturna, Depressed nasal bridge, Obesity, Broad nasal tip OMIM:619680
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Wilson Disease
Weight loss, Failure to thrive, Increased body weight, Abnormality of the menstrual cycle ORPHA:905
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con... ORPHA:36234
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98855
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Momo Syndrome
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Wide nasal base... ORPHA:2563
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae... ORPHA:1001
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Elevated circulating creatinine concentration, Glomerular sclerosis, Nephropathy, Co... ORPHA:247691
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormal nasal morphology, Truncal obesity, Hypospadias ORPHA:3224
Distal Deletion 12Q
Diabetes mellitus, Anteverted nares, Unilateral cryptorchidism, Maturity-onset diabetes of the yo... ORPHA:96149
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Obesity, Abnormal neuron morphology, Abnormality of neuronal migration ORPHA:163681
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Cohen Syndrome
Small for gestational age, Prominent nasal bridge, Decreased response to growth hormone stimulati... OMIM:216550
Congenital-Onset Steinert Myotonic Dystrophy
Enuresis, Obesity, Decreased body weight ORPHA:589821
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98853
Metachromatic Leukodystrophy, Adult Form
Short attention span, Progressive psychomotor deterioration, Emotional lability, Depression, Deme... ORPHA:309271
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Optic nerve dysplasia, Obesity, Lateral ventricle dilata... OMIM:617296
Desbuquois Dysplasia 1
Short nose, Concave nasal ridge, Depressed nasal bridge, Obesity OMIM:251450
Lamb-Shaffer Syndrome
Hyperactivity, Broad nasal tip, Abnormal temper tantrums, Abnormal social behavior, Abnormal repe... ORPHA:530983
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Depressed nasal bridge, Hypercalcemia, Precocious puber... ORPHA:369837
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... ORPHA:231226
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Elevated circulating C-reactive protein concentration, Elevated circulating creatini... ORPHA:91500
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Wide nasal b... ORPHA:529962
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Perisylvian polymicrogyria, Anteverted nares, Prominent nasal bridge, Obesity OMIM:618443
White-Sutton Syndrome
Duplicated collecting system, Depressed nasal bridge, Optic nerve hypoplasia, Broad nasal tip, Ob... OMIM:616364
1P36 Deletion Syndrome
Depressed nasal bridge, Abnormal repetitive mannerisms, Polyphagia, Wide nasal bridge, Depressed ... ORPHA:1606
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Beta-Thalassemia Major
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... ORPHA:231214
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci... ORPHA:769
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Failure to thrive... ORPHA:71212
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Generalized lipodystro... ORPHA:79086
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Abnormal social behavior, Progressive psychomotor deterioration, Short attent... ORPHA:309263
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Orthostatic Hypotension 2
Orthostatic hypotension, Decreased glomerular filtration rate OMIM:618182
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Shox-Related Short Stature
Obesity ORPHA:314795
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin OMIM:614008
White-Kernohan Syndrome
Hydroureter, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Dysplastic corp... OMIM:619426
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Renal steatosis... ORPHA:412
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Insulin-Like Growth Factor I, Resistance To
Diabetes mellitus, Wide nasal bridge, Increased circulating insulin-like growth factor 1 concentr... OMIM:270450
Achondroplasia
Depressed nasal bridge, Short nasal bridge, Anteverted nares, Obesity ORPHA:15
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Momo Syndrome
Overgrowth, Wide nasal bridge, Obesity OMIM:157980
Occipital Horn Syndrome
Bladder diverticulum, Recurrent urinary tract infections, Abnormality of the sense of smell ORPHA:198
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Thrombocytopenia, Persistence of... OMIM:260400
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Partial agenesis of the corpus callosum, Elevated circulating creatinine con... OMIM:617478
Den Hoed-De Boer-Voisin Syndrome
Recurrent urinary tract infections, Overweight, Obesity, Lateral ventricle dilatation, Decreased ... OMIM:619229
Glycogen Storage Disease Ia
Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyperuricemia, ... OMIM:232200
Beckwith-Wiedemann Syndrome
Ureteral duplication, Adrenocortical cytomegaly, Elevated circulating alpha-fetoprotein concentra... ORPHA:116
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Optic atrophy, Depressed nasal bridge, Obesity OMIM:618493
Lysinuric Protein Intolerance
Hypolysinemia, Increased circulating ferritin concentration, Oroticaciduria, Intraalveolar phosph... OMIM:222700
Intellectual Developmental Disorder, Autosomal Dominant 29
Cryptorchidism, Wide nose, Obesity OMIM:616078
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circulating AC... ORPHA:90790
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Prominent nasal bridge, Precocious puberty, Obesity, Type I diabetes mellitus, Moderate albuminur... OMIM:619269
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Depressed nasal bridge, Broad nasal tip, Dilatation of renal calices, Bulbous nose, Wide nasal br... ORPHA:466950
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... ORPHA:90038
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Prominent nasal bridge, Choanal atresia, Agangl... ORPHA:567
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end... ORPHA:99889
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia ORPHA:99867
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Failure to thrive, Obesity ORPHA:261197
Glycogen Storage Disease Ib
Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyperuricemia, ... OMIM:232220
White-Sutton Syndrome
Duplicated collecting system, Depressed nasal bridge, Broad nasal tip, Optic atrophy, Obesity ORPHA:468678
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Hyperlipidemia, Recurrent upper respiratory tract infections, H... OMIM:232240
Marburg Hemorrhagic Fever
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Orchiti... ORPHA:99826
Adiposis Dolorosa
Hypothyroidism, Obesity ORPHA:36397
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Low Phospholipid-Associated Cholelithiasis
Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity ORPHA:69663
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, HbH hemoglobin ORPHA:423479
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Orthostatic hypotension, Obesity, Lateral ventricle dilatation ORPHA:2822
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Anteverted nares, Depressed nasal bridge, Hypospadias, Cryptorchidism, Triangular ... OMIM:309580
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Underdeveloped nasal alae, Precocious puberty, Prominent nose, Wide nasal bridge, Truncal obesity... ORPHA:2637
6Q Terminal Deletion Syndrome
Hypospadias, Phimosis, Periventricular heterotopia, Obesity, Abnormality of neuronal migration, G... ORPHA:75857
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Depressed nasal bridge, Hair-pulling, Wide nasal bridge, Irritability, Dysphagia, ... ORPHA:447997
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Fg Syndrome Type 1
Choanal atresia, Prominent nose, Attention deficit hyperactivity disorder, Compulsive behaviors, ... ORPHA:93932
Joubert Syndrome 8
Optic disc pallor, Obesity OMIM:612291
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration ORPHA:98907
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Depressed nasal bridge, Anteverted nares, Anterior pituitary hyp... OMIM:619534
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... ORPHA:124
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g... ORPHA:881
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... ORPHA:904
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Retinitis Pigmentosa 74
Optic disc pallor, Abnormal renal morphology, Obesity OMIM:616562
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypospadias, Prominent nasal bridge, Prominent nose, Precocious puberty, Truncal obesity, Type II... OMIM:210720
Peripartum Cardiomyopathy
Diabetes mellitus, Abnormality of thyroid physiology, Obesity ORPHA:563
3Q29 Microduplication Syndrome
Wide nasal bridge, Obesity ORPHA:251038
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Recurrent urinary tract infections, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Op... OMIM:617157
Witteveen-Kolk Syndrome
Wide nose, Anteverted nares, Prominent nasal bridge, Unilateral cryptorchidism, Depressed nasal b... OMIM:613406
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Depressed nasal bridge, Broad nasal tip, Dilatation of renal calices, Bulbous nose, Obesity, Wide... ORPHA:466943
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Angelman Syndrome
Obesity OMIM:105830
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Obesity, Enuresis, Failure to thrive, Convex nasal ridge ORPHA:369950
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Obesity, Nephrolithiasis, Hydron... ORPHA:353281
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Wide nose, Anteverted nares, Abnormal cortical gyration, Aggressive behavior, Bulbous nose, Memor... ORPHA:314647
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... ORPHA:64
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Decreased circulating parathyroid hor... OMIM:188400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Failure to thrive, Anteverted nares, Hypospadias, Overweight, Bulbous nose, Wide n... OMIM:619475
Cornelia De Lange Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Choa... ORPHA:199
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Flexion contracture, Abnormal hemoglobin, Anemia ORPHA:847
Rubinstein-Taybi Syndrome 1
Small for gestational age, Hypospadias, Premature thelarche, Prominent nose, Bilateral cryptorchi... OMIM:180849
Monosomy 22Q13.3
Renal dysplasia, Bulbous nose, Wide nasal bridge, Obesity, Vesicoureteral reflux, Recurrent pyelo... ORPHA:48652
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Recurrent urinary tract infections, Hypospadias, Abnormali... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Recurrent urinary tract infections, Hypospadias, Abnormali... ORPHA:353277
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Depressed nasal bridge, Bifid nose, Obesity OMIM:301066
Williams-Beuren Syndrome
Nephrocalcinosis, Early onset of sexual maturation, Vesicoureteral reflux, Micropenis, Pelvic kid... OMIM:194050
Myhre Syndrome
Cryptorchidism, Small for gestational age, Prominent nasal bridge, Obesity OMIM:139210
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Prominent nose, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:614748
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Umbilical hernia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior ORPHA:309256
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou... ORPHA:740
Desbuquois Dysplasia 2
Truncal obesity, Depressed nasal bridge OMIM:615777
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... OMIM:620185
Dihydropyrimidine Dehydrogenase Deficiency
Depressed nasal bridge, Anteverted nares, Irritability, Prominent nasal tip, Abnormal social beha... ORPHA:1675
Carpenter Syndrome 2
Depressed nasal bridge, Anteverted nares, Bilateral cryptorchidism, Cryptorchidism, Wide nasal br... OMIM:614976
Yellow Fever
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula... ORPHA:99829
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Anteverted nares, Decreased response to growth hormone stimulation test, Hypospadias, Obesity, Ho... ORPHA:444077
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Optic atrophy, Obesity OMIM:614947
Narcolepsy 1
Narcolepsy OMIM:161400
Narcolepsy 3
Narcolepsy OMIM:609039
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... ORPHA:805
Koolen-De Vries Syndrome Due To A Point Mutation
Thick nasal alae, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Wide nasal bri... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Thick nasal alae, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Wide nasal bri... ORPHA:363958
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Intellectual Developmental Disorder, Autosomal Dominant 38
Depressed nasal bridge, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abno... OMIM:616393
Neutral Lipid Storage Myopathy
Diabetes mellitus, Hypertriglyceridemia, Obesity, Pineal cyst, Abnormal circulating creatine kina... ORPHA:98908
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
1P21.3 Microdeletion Syndrome
Short nose, Obesity, Broad nasal tip ORPHA:293948
Xylt1-Cdg
Truncal obesity ORPHA:370930
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
African Trypanosomiasis
Narcolepsy, Irritability, Delirium, Aggressive behavior ORPHA:3385
Alkaptonuria
Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate OMIM:203500
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Primrose Syndrome
Diabetes mellitus, Anteverted nares, Hypergonadotropic hypogonadism, Depressed nasal bridge, Broa... OMIM:259050
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Tako-Tsubo Cardiomyopathy
Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration ORPHA:66529
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Obesity, Bicornuate ut... OMIM:181450
Chronic Thromboembolic Pulmonary Hypertension
Increased HDL cholesterol concentration, Obesity, Elevated circulating C-reactive protein concent... ORPHA:70591
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Mend Syndrome
Hyperactivity, Prominent nasal bridge, Aggressive behavior, Abnormal nasal bridge morphology, Abn... ORPHA:401973
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Truncal obesity OMIM:301072
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent nose, Bulbous nose, T... OMIM:612474
Pallister-Killian Syndrome
Small scrotum, Depressed nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, Wide nasal ... OMIM:601803
Pmm2-Cdg
Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypogonadism, Elevated circulating g... ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Adcy3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Adcy3.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Adcy3tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Adcy3tm1a(EUCOMM)Wtsi PMC6671969

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Adcy3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Adcy3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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