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Gene: Lats1 MGI:1333883

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Gene Summary

Name:
large tumor suppressor
Synonyms:
N/A

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 grip strength Lats1em1(IMPC)H HET   Early adult 1.31×10-06
decreased hemoglobin content Lats1em1(IMPC)H HOM Early adult 1.66×10-06
increased circulating alanine transaminase level Lats1em1(IMPC)H HOM Early adult 1.98×10-05
decreased prepulse inhibition Lats1em1(IMPC)H HOM   Early adult 1.45×10-05
increased grip strength Lats1em1(IMPC)H HOM Early adult 3.48×10-09
decreased locomotor activity Lats1em1(IMPC)H HOM   Early adult 2.26×10-08

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Viewing: all phenotypes
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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.

Phenotype associated images not available

Human diseases caused by Lats1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lats1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... OMIM:228300
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Gynecomastia, Decrease... OMIM:614837
Premature Ovarian Failure 8
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:615723
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Reduced ... OMIM:616030
Pituitary Hormone Deficiency, Combined, 2
Reduced circulating growth hormone concentration, Abnormal circulating adrenocorticotropin concen... OMIM:262600
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Testicular atrophy, Micropenis, Eunuchoid habitus, Gynecomastia, Decreased circul... OMIM:308750
Hyperprolactinemia
Oligomenorrhea, Increased circulating prolactin concentration, Galactorrhea, Female infertility, ... OMIM:615555
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Decrease... OMIM:614897
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Eunuchoid habitus, Gyn... OMIM:308700
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Decreased circulating follicle stimulating hormone concentration, Decre... OMIM:614842
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... ORPHA:488191
Serrated Polyposis Syndrome
Melanoma, Prostate cancer, Breast carcinoma, Biliary tract neoplasm, Bladder carcinoma, Colorecta... ORPHA:157798
Maffucci Syndrome
Goiter, Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Hemangiomatosis, Breas... ORPHA:163634
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Hereditary Breast And/Or Ovarian Cancer Syndrome
Melanoma, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Primary peritoneal carcino... ORPHA:145
Post-Traumatic Pituitary Deficiency
Delayed puberty, Decreased testicular size, Hypotension, Decreased response to growth hormone sti... ORPHA:95619
Gonadoblastoma
Dysgerminoma, Increased serum testosterone level, Ambiguous genitalia, Gonadal dysgenesis with fe... ORPHA:206484
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Anterior pituitary hypoplasia, Central hypothyroidism, Decreased circu... ORPHA:453533
Functioning Gonadotropic Adenoma
Delayed puberty, Isosexual precocious puberty, Abnormality of the menstrual cycle, Adrenocorticot... ORPHA:91348
Thyroid Cancer, Nonmedullary, 4
Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm OMIM:616534
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Primary amenorrhea, Ambiguous genitalia, Elevated circulating follicle stimulati... ORPHA:251510
Ring Chromosome Y Syndrome
Ambiguous genitalia, Streak ovary, Male infertility, Abnormal spermatogenesis, Male hypogonadism,... ORPHA:261529
Werner Syndrome
Cutaneous melanoma, Slender build, Meningioma, Acral lentiginous melanoma, Myocardial infarction,... ORPHA:902
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased c... OMIM:614839
Li-Fraumeni Syndrome
Acute lymphoblastic leukemia, Colorectal polyposis, Astrocytoma, Neoplasm of the central nervous ... ORPHA:524
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Decreased circulating luteinizing hormone level, Cryptorchidism, M... OMIM:202150
Ovarian Cancer
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma OMIM:167000
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal endometrium morphology, Abnormality of the ovary, Go... ORPHA:314478
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm, Breast carcinoma OMIM:604370
Schöpf-Schulz-Passarge Syndrome
Facial telangiectasia, Alopecia, Basal cell carcinoma, Sparse hair, Ovarian neoplasm, Squamous ce... ORPHA:50944
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Breast carcinoma, Ovarian carcinoma OMIM:613399
Premature Ovarian Failure 6
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:612310
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:615842
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Delayed puberty, Cryptorchidism, Micropenis, Decreased circulating follicle stimulating hormone c... OMIM:619761
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Hypoplasia of the ovary, Primary amenorrhea, Breast hypoplasia, Obesity, Decreas... ORPHA:2235
Acquired Hypertrichosis Lanuginosa
Neoplasm, Abnormal eyebrow morphology, Fine hair, Hypopigmentation of hair, Neoplasm of the breas... ORPHA:2221
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus... OMIM:617442
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... OMIM:229070
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Cryptorchidism, Hypoplastic nipples, Highly arched eyebrow, Male urethral meatus stenosis, Absent... OMIM:616001
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Meningioma
Neoplasm of the posterior pituitary, Neoplasm of the tongue, Enlarged pituitary gland, Decreased ... ORPHA:2495
Non-Functioning Pituitary Adenoma
Hypopituitarism, Abnormality of the pituitary gland, Central adrenal insufficiency, Abnormality o... ORPHA:91349
Peripheral Primitive Neuroectodermal Tumor
Uterine neoplasm, Neoplasm of the pancreas, Brain neoplasm, Pancreatitis, Metrorrhagia, Periphera... ORPHA:370348
Subependymoma
Supratentorial neoplasm, Neoplasm of the liver, Neoplasm of the lung, Spinal cord tumor, Neoplasm... ORPHA:251639
Ependymoma
Supratentorial neoplasm, Neoplasm of the liver, Neoplasm of the lung, Spinal cord tumor, Neoplasm... ORPHA:251636
Carney Complex
Neoplasm of the pharynx, Abnormal morphology of female internal genitalia, Cutaneous myxoma, Euth... ORPHA:1359
Lynch Syndrome
Death in early adulthood, Neoplasm of the thyroid gland, Neoplasm of the rectum, Hepatocellular c... ORPHA:144
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating follic... OMIM:619755
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Neoplasm of the thyroid gland, Visceral angiomatosis, Hamartoma, Congestive heart failure, Neopla... ORPHA:137608
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Neoplasm of the thyroid gland, Goiter, Abnormal hair quantity, Sarcoma, Gynecomastia, Polycystic ... ORPHA:457059
Familial Colorectal Cancer Type X
Neoplasm of the thyroid gland, Neoplasm of the rectum, Hepatocellular carcinoma, Renal neoplasm, ... ORPHA:440437
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Goiter, Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma, Multinodular goite... OMIM:180295
Familial Hyperprolactinemia
Oligomenorrhea, Galactorrhea, Infertility, Female hypogonadism, Menorrhagia, Amenorrhea, Hemorrha... ORPHA:397685
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Wide intermamillary distance, Hypogonadism ORPHA:1875
Bdv Syndrome
Delayed puberty, Cryptorchidism, Reduced TSH response to thyrotrophin-releasing hormone stimulati... OMIM:619326
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Neoplasm of the lung, Cachexia, Weight loss, Ovarian neoplasm, Neoplasm... ORPHA:83469
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility, Miscarriage OMIM:619176
Androgen Insensitivity Syndrome
Neoplasm, Primary amenorrhea, Gynecomastia, Sparse axillary hair, Elevated circulating follicle s... OMIM:300068
Ovarian Dysgenesis 3
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Fem... OMIM:614324
Prolactin Deficiency, Isolated
Infertility, Reduced circulating prolactin concentration, Irregular menstruation OMIM:264110
Spermatogenic Failure, X-Linked, 4
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... OMIM:301077
Frasier Syndrome
Male pseudohermaphroditism, Ovarian gonadoblastoma, Primary amenorrhea, Gonadal dysgenesis OMIM:136680
Pituicytoma
Hypopituitarism, Abnormal circulating adrenocorticotropin concentration, Increased circulating pr... ORPHA:251623
46,Xy Sex Reversal 6
Dysgerminoma, Gonadoblastoma, Sparse axillary hair, Clitoral hypertrophy, Hirsutism, Sex reversal... OMIM:613762
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypopituitarism, Overweight, Inappropriate antidiuretic hormone secretion, Anterior pituitary hyp... ORPHA:226307
Thyroid Hormone Metabolism, Abnormal, 3
Abnormal circulating free T3 concentration, Abnormal circulating free T4 concentration, Abnormal ... OMIM:620198
Spermatogenic Failure 77
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... OMIM:620103
Familial Multinodular Goiter
Renal cell carcinoma, Pleuropulmonary blastoma, Testicular seminoma, Multinodular goiter, Colorec... ORPHA:276399
Pituitary Hormone Deficiency, Combined, 6
Reduced circulating growth hormone concentration, Decreased circulating follicle stimulating horm... OMIM:613986
Premature Ovarian Failure 2B
Female infertility, Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea OMIM:300604
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Aplasia/Hypoplasia of the breasts, Aplasia/Hypoplasia of the nipples, Absent nipple, Hypoplastic ... OMIM:113700
Limb-Mammary Syndrome
Hypohidrosis, Primary amenorrhea, Hypoplastic nipples, Alopecia, Breast aplasia, Sparse eyebrow, ... ORPHA:69085
Premature Ovarian Failure 7
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:612964
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... ORPHA:90793
Fanconi Anemia, Complementation Group S
Long eyelashes, Breast carcinoma, Low anterior hairline, Ovarian carcinoma, Failure to thrive, Sp... OMIM:617883
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Crypt... OMIM:614841
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Hypoplasia o... ORPHA:168563
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Aplasia of the uterus, Primary amenorrh... OMIM:273250
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... OMIM:603902
Leydig Cell Hypoplasia
Primary amenorrhea, Ambiguous genitalia, Abnormal internal genitalia, Testicular gonadoblastoma, ... ORPHA:755
Complete Androgen Insensitivity Syndrome
Delayed puberty, Abnormal morphology of female internal genitalia, Primary amenorrhea, Abnormal c... ORPHA:99429
Cowden Syndrome 1
Goiter, Carcinoma, Gynecomastia, Meningioma, Breast carcinoma, Hyperthyroidism, Varicocele, Ovari... OMIM:158350
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob... OMIM:616950
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly OMIM:613978
Ovarian Dysgenesis 7
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... OMIM:618117
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Secondary amenorrhea, Elevate... OMIM:619938
Muir-Torre Syndrome
Benign gastrointestinal tract tumors, Benign genitourinary tract neoplasm, Adenoma sebaceum, Mali... OMIM:158320
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Adrenocortical adenoma, Hypertension, Glucocortocoid-insensitive primary ... ORPHA:231632
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, El... OMIM:619834
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypogonadism, Hypoplastic nipples, Arrhythmia, Sparse hair, Hypoplastic areola OMIM:273400
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Panhypophysitis
Decreased male libido, Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, ... ORPHA:95513
46,Xy Sex Reversal 7
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... OMIM:233420
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Gangliocytoma
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Abnormality ... ORPHA:251937
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Decreased serum testosterone concentration, Adrenocortico... ORPHA:95512
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... ORPHA:399805
46,Xy Sex Reversal 1
Male pseudohermaphroditism, Primary amenorrhea, Ambiguous genitalia, Gonadoblastoma, Elevated cir... OMIM:400044
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Cerebellar Ataxia-Hypogonadism Syndrome
Hypogonadism, Gynecomastia, Supernumerary nipple, Decreased fertility, Abnormality of the hypotha... ORPHA:1173
Sheehan Syndrome
Central adrenal insufficiency, Adrenocorticotropic hormone deficiency, Abnormal size of pituitary... ORPHA:91355
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Primary amenorrhea, Hypergonadotropic hypogonadism, Decreased fertility, Increas... ORPHA:2410
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
46,Xy Sex Reversal 10
Perineal hypospadias, Dysgerminoma, Decreased testicular size, Micropenis, Ambiguous genitalia, G... OMIM:616425
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse body hair, Hypoplastic nipples, Xerostomia, Absent eyelashes, Absent eyebrow, Sparse later... OMIM:614941
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... OMIM:108420
46,Xx Gonadal Dysgenesis
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Ambiguous genitalia, Decrea... ORPHA:243
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Ane Syndrome
Delayed puberty, Adrenocorticotropin deficient adrenal insufficiency, Anterior pituitary hypoplas... ORPHA:157954
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Cryptorchidism, Sparse body hair, Small for gestational age, Hypogonad... OMIM:300869
Non-Acquired Panhypopituitarism
Delayed puberty, Hypopituitarism, Decreased testicular size, Anterior pituitary hypoplasia, Hypot... ORPHA:90695
Partial Androgen Insensitivity Syndrome
Primary amenorrhea, Ambiguous genitalia, Fused labia majora, Bilateral cryptorchidism, Male infer... ORPHA:90797
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Overweight, Hypothyroidi... OMIM:300888
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism, Obesity OMIM:264120
Ovarian Dysgenesis 5
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:617690
Premature Ovarian Failure 10
Premature ovarian insufficiency, Hypoplasia of the ovary, Decreased testicular size, Primary amen... OMIM:612885
Asherman Syndrome
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Miscarriage, Metrorrhagia, Infertil... ORPHA:137686
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Frasier Syndrome
Primary amenorrhea, Gonadoblastoma, Ambiguous genitalia, male, Gonadal dysgenesis with female app... ORPHA:347
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Breast carcinoma, Stomach cancer, Sarcoma OMIM:609265
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Hypohidrosis, Brittle hair, Anhidrosis, Sparse hair, Absent nipple OMIM:614940
Perrault Syndrome 4
Oligomenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Hyp... OMIM:615300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Adult Syndrome
Wide intermamillary distance, Breast hypoplasia, Sparse axillary hair, Hypoplastic nipples, Fair ... OMIM:103285
Pituitary Apoplexy
Oligomenorrhea, Hypopituitarism, Elevated circulating growth hormone concentration, Increased cir... ORPHA:95613
Lynch Syndrome 5
Neoplasm of the pancreas, Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colore... OMIM:614350
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Osteo... OMIM:151623
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Eunuchoid habitus, Primary amenorrhea, ... OMIM:618187
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... ORPHA:90796
46,Xx Testicular Difference Of Sex Development
Polycystic ovaries, Male hypogonadism, Decreased testicular size, Ambiguous genitalia ORPHA:393
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Adult Syndrome
Breast hypoplasia, Hypoplastic nipples, Fine hair, Alopecia, Absent nipple, Sparse scalp hair ORPHA:978
Neuroendocrine Neoplasm Of Appendix
Heart murmur, Hypotension, Palpitations, Primary hypercortisolism, Ileal adenocarcinoma, Increase... ORPHA:100079
Melanoma-Pancreatic Cancer Syndrome
Melanoma, Pancreatic squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Pancreatic a... OMIM:606719
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Lynch Syndrome 4
Ovarian neoplasm, Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma OMIM:614337
Tetraamelia Syndrome 2
Absent nipple, Micropenis OMIM:618021
Ovarian Dysgenesis 4
Elevated circulating follicle stimulating hormone level, Decreased serum estradiol, Decreased bod... OMIM:616185
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Primary amenorrhea, Frontal balding, Abnormality of the ovary... ORPHA:247768
Plin1-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Hypertension, Hyperinsulinemia, Infertility, Abnormal circula... ORPHA:280356
Perrault Syndrome 3
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:614129
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Odontogenic keratocysts of the jaw, Ovarian fibr... ORPHA:314473
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
X-Linked Intellectual Disability, Van Esch Type
Decreased testicular size, Cryptorchidism, Retractile testis, Hypergonadotropic hypogonadism, Fai... ORPHA:163976
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Abnormal sperm morphology, Delayed puberty, Decreased testicular size, Testicular... ORPHA:52901
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Gynecomastia, Sparse a... OMIM:146110
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Melanoma, Microp... ORPHA:1916
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Familial Pancreatic Carcinoma
Melanoma, Neoplasm of the liver, Colon cancer, Diabetes mellitus, Breast carcinoma, Ovarian carci... ORPHA:1333
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... OMIM:618086
Barber-Say Syndrome
Cryptorchidism, Hypoplastic nipples, Low anterior hairline, Hypoplastic labia minora, Hypoplastic... OMIM:209885
Pituitary Adenoma 1, Multiple Types
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Increased ci... OMIM:102200
Ulnar-Mammary Syndrome
Delayed puberty, Cryptorchidism, Absent axillary hair, Hypoplastic nipples, Arrhythmia, Breast ap... ORPHA:3138
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... ORPHA:399808
Lhermitte-Duclos Disease
Neoplasm of the thyroid gland, Ovarian neoplasm, Fibroadenoma of the breast, Trichilemmoma ORPHA:65285
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Atypical Werner Syndrome
Delayed puberty, Diabetes mellitus, Meningioma, Fasting hyperinsulinemia, Abnormal hair morpholog... ORPHA:79474
Premature Ovarian Failure 17
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Decrea... OMIM:619146
Ollier Disease
Hemangioma, Neoplasm, Precocious puberty, Multiple enchondromatosis, Visceral angiomatosis, Chond... ORPHA:296
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse body hair, Supernumerary nipple, Absent eyelashes, Irregular menstruation, Absent eyebrow,... ORPHA:1809
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Fontaine Progeroid Syndrome
Pulmonary arterial hypertension, Cryptorchidism, Small for gestational age, Micropenis, Synophrys... OMIM:612289
Polycystic Ovary Syndrome 1
Oligomenorrhea, Hirsutism, Enlarged polycystic ovaries, Amenorrhea, Obesity OMIM:184700
49,Xxxyy Syndrome
Decreased testicular size, Micropenis, Ambiguous genitalia, External genital hypoplasia, Eunuchoi... ORPHA:261534
Acrorenal-Mandibular Syndrome
Uterus didelphys, Abnormality of the breast, Unicornuate uterus, Bicornuate uterus, Absent nipple OMIM:200980
Denys-Drash Syndrome
Ambiguous genitalia, male, Hypertension, Neonatal death, Septate vagina, Ambiguous genitalia, fem... OMIM:194080
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse body hair, Hypohidrosis, Hypoplastic nipples, Aplasia/Hypoplastia of the eccrine sweat gla... OMIM:305100
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:3319
Premature Ovarian Failure 15
Oligomenorrhea, Decreased cirrculating antimullerian hormone circulation, Elevated circulating fo... OMIM:618096
Estrogen Resistance Syndrome
Primary amenorrhea, Breast hypoplasia, Abnormality of the pubic hair, Hypoplasia of the uterus, H... ORPHA:785
X-Linked Intellectual Disability, Cilliers Type
Decreased testicular size, Cryptorchidism, Hypergonadotropic hypogonadism, Failure to thrive, Abs... ORPHA:163971
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Hypopituitarism, Precocious puberty, Increased circulating prolactin concentratio... ORPHA:91354
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Hypoplasia of the uterus, Irregular menstruation, Female inferti... OMIM:110100
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Gynecomastia, Obesity, Hy... ORPHA:66628
Aromatase Deficiency
Cryptorchidism, Generalized hirsutism, Primary amenorrhea, Eunuchoid habitus, Obesity, Hypergonad... ORPHA:91
Xp22.3 Microdeletion Syndrome
Decreased fertility, Polycystic ovaries, Secondary amenorrhea, Hypogonadotropic hypogonadism ORPHA:1643
Cortisone Reductase Deficiency 1
Oligomenorrhea, Obesity, Alopecia, Infertility, Hirsutism, Precocious puberty OMIM:604931
Tumor Predisposition Syndrome 2
Colon cancer, Meningioma, Juvenile type ovarian granulosa cell tumor, Uveal melanoma, Schwannoma,... OMIM:619975
Polyembryoma
Increased serum testosterone level, Isosexual precocious puberty, Neuroectodermal neoplasm, Irreg... ORPHA:180229
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... OMIM:300510
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Reduced circulating growth hormone concentration, Hypopituitarism, Impaired growth-hormone respon... OMIM:613038
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Reduced... OMIM:618723
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Primary amenorrhea, Abnormal eyebrow morphology, Small pituitary gland, Streak o... ORPHA:2232
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Pulmonary arterial hypertension, Nail dystrophy, Hypoplastic nipples, Thyroid hypoplasia, Hydroce... OMIM:620186
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Gynecomastia, Obesity, Hy... ORPHA:179494
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Hypopituitarism, Decreased testicular size, Anterior pituitary hypoplasia, Anter... ORPHA:95494
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gingival bleeding, Bruising susceptibility, Post-partum hemorrhage, I... ORPHA:327
Fowler Urethral Sphincter Dysfunction Syndrome
Oligomenorrhea, Abnormality of the ovary, Polycystic ovaries, Hirsutism, Menorrhagia, Amenorrhea ORPHA:2795
Satoyoshi Syndrome
Hypoplasia of the ovary, Alopecia universalis, Abnormality of the ovary, Nephrogenic diabetes ins... ORPHA:3130
Hepatic Adenomas, Familial
Polycystic ovaries, Hepatocellular adenoma, Maturity-onset diabetes of the young OMIM:142330
Non Rare In Europe: Central Precocious Puberty
Increased body weight, Obesity, Isosexual precocious puberty, Hypothalamic hamartoma, Increased c... ORPHA:759
Perrault Syndrome 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Prolactinoma
Delayed puberty, Abnormality of the pituitary gland, Central adrenal insufficiency, Abnormality o... ORPHA:2965
Ectodermal Dysplasia With Adrenal Cyst
Abnormality of the endocrine system, Hypoplastic nipples, Hypohidrosis, Breast hypoplasia OMIM:129550
Resistance To Thyrotropin-Releasing Hormone Syndrome
Goiter, Overweight, Increased circulating prolactin concentration, Decreased circulating T4 conce... ORPHA:99832
Perrault Syndrome 6
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... OMIM:617565
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus, Male hypogonadism, Decreased serum... ORPHA:432
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple OMIM:104350
Premature Ovarian Failure 2A
Elevated circulating luteinizing hormone level, Secondary amenorrhea, Premature ovarian insuffici... OMIM:300511
Legius Syndrome
Acute monocytic leukemia, Optic nerve glioma, Pulmonic stenosis, Male urethral meatus stenosis, V... ORPHA:137605
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Ambiguous genitalia, Isosexual precocious pu... ORPHA:90795
Martin-Probst Syndrome
Cryptorchidism, Micropenis, Wide intermamillary distance, Hypoplastic nipples, Telangiectasia, Hy... OMIM:300519
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Fine hair, Ungual fibroma, Sparse or absent eyelashes, Sparse hair ORPHA:1433
Scarf Syndrome
Perineal hypospadias, Cryptorchidism, Micropenis, Hepatocellular adenoma, Wide intermamillary dis... ORPHA:3134
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Primary amenorrhea, Polycystic ovaries,... OMIM:615363
Steinert Myotonic Dystrophy
Prolonged QRS complex, Diabetes mellitus, Early balding, Hyperinsulinemia, Cholelithiasis, Male h... ORPHA:273
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Dilated cardiomyopathy, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Rhabdoid Tumor
Renal neoplasm, Neoplasm of the liver, Hypertension, Internal hemorrhage, Neoplasm of the central... ORPHA:69077
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter, Hypothyroidism OMIM:617577
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Becker Nevus Syndrome
Supernumerary nipple, Hypoplastic labia minora, Aplasia/Hypoplasia of the breasts, Hamartoma, Abn... ORPHA:64755
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal i... ORPHA:98754
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Increased size of the clitoris, Primary amenorrhea, Abnormality of the ovary,... ORPHA:2975
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss ORPHA:2023
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Reduced antral foll... OMIM:611548
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618014
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Oligomenorrhea, Lacrimal gland aplasia, Premature ovarian insufficiency, Lacrimal gland hypoplasi... ORPHA:572333
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Cryptorchidism, Micropenis, Primary amenorrhea, Decreased serum estradio... OMIM:618841
Ichthyosis With Confetti
Hypertrichosis, Hypoplastic nipples, Decreased body weight OMIM:609165
Intellectual Developmental Disorder, Autosomal Dominant 47
Supernumerary nipple, Small for gestational age, Cryptorchidism, Thin eyebrow OMIM:617635
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Hypoplastic nipples, Hypoplastic female external genitalia, Hypospadias OMIM:177980
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal i... ORPHA:98793
Branchioskeletogenital Syndrome
Penoscrotal hypospadias, Micropenis, Synophrys, Absent external genitalia, Highly arched eyebrow,... ORPHA:1299
49,Xyyyy Syndrome
Decreased testicular size, Eunuchoid habitus, External genital hypoplasia, Gynecomastia, Primary ... ORPHA:99330
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Papilloma, Colon cancer, Juvenile gastrointestinal polyposis, Multiple ga... ORPHA:480536
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, A... OMIM:613673
Premature Ovarian Failure 11
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea OMIM:616946
Infantile Myofibromatosis
Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Benign neoplasm of the cen... ORPHA:2591
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal i... ORPHA:177904
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal i... ORPHA:177901
Pituitary Gigantism
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Increased ci... ORPHA:99725
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Ambiguous genitalia, Clitoral hypertrophy, Elevated circulating follicle... OMIM:612965
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Abnormality of the pituitary gland, Central adrenal insufficiency, Elevated circ... ORPHA:91347
Nipples, Supernumerary
Supernumerary nipple OMIM:163700
Pituitary Stalk Interruption Syndrome
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Primary amenorrhea, Diabetes insipidus, Deat... ORPHA:95496
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Splenomegaly ORPHA:846
Multiple Endocrine Neoplasia Type 4
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... ORPHA:276152
Global Developmental Delay With Speech And Behavioral Abnormalities
Supernumerary nipple, Cryptorchidism, Precocious puberty OMIM:619243
Prader-Willi Syndrome
Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal insufficiency, Sma... ORPHA:739
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... ORPHA:289548
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Wide intermamillary distance, Supernumerary nipple, Fine hair, Cachexia, Failure ... ORPHA:217346
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Burkitt Lymphoma
Abnormality of the ovary, Gastrointestinal hemorrhage, Neoplasm of the oral cavity ORPHA:543
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Kallmann Syndrome
Delayed puberty, Decreased testicular size, Cryptorchidism, Abnormal morphology of female interna... ORPHA:478
Nut Midline Carcinoma
Neoplasm, Ewing sarcoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cel... ORPHA:443167
Prader-Willi-Like Syndrome
Delayed puberty, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal i... ORPHA:398073
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Delayed puberty, Cryptorchidism, Micropenis, Primary amenorrhea, Small pituitary gland, Hypogonad... OMIM:612702
Basal Cell Nevus Syndrome 1
Cardiac fibroma, Odontogenic keratocysts of the jaw, Cardiac rhabdomyoma, Hamartomatous stomach p... OMIM:109400
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Barber-Say Syndrome
Shawl scrotum, Hypoplastic nipples, Breast aplasia, Failure to thrive, Sparse or absent eyelashes... ORPHA:1231
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Orthostatic Hypotension 1
Reduced circulating prolactin concentration, Retrograde ejaculation, Atrial fibrillation, Orthost... OMIM:223360
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Ambiguous genitalia, Fused labia majora, Inc... ORPHA:90794
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Decreased testicular size, Gingival bleeding, Micropenis, Bruising su... ORPHA:335
Scarf Syndrome
Perineal hypospadias, Cryptorchidism, Micropenis, Wide intermamillary distance, Hypoplastic nippl... OMIM:312830
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral crypto... ORPHA:1772
Apert Syndrome
Ovarian neoplasm, Hypertension ORPHA:87
Pituitary Dermoid And Epidermoid Cysts
Oligomenorrhea, Hyperpituitarism, Hypogonadism, Increased circulating prolactin concentration, Ne... ORPHA:91351
X-Linked Acrogigantism
Delayed puberty, Hypopituitarism, Elevated circulating growth hormone concentration, Hypogonadism... ORPHA:300373
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Hyperaldosteronism, Increased body weight, H... ORPHA:1501
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Small pituitary gland OMIM:614880
Lipodystrophy, Familial Partial, Type 3
Oligomenorrhea, Maternal diabetes, Primary amenorrhea, Polycystic ovaries, Hypertension, Hyperins... OMIM:604367
Congenital Generalized Lipodystrophy
Oligomenorrhea, Diabetes mellitus, Precocious puberty in females, Polycystic ovaries, Clitoral hy... ORPHA:528
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hemangioma, Hypoplastic nipples, Cryptorchidism OMIM:618505
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dysmenorrhea, Hydrocolpos, Dyspareunia, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix m... ORPHA:3411
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Reduced circulating growth hormone concentration, Decreased testicular size, Decreased cirrculati... OMIM:300845
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism OMIM:215470
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
46,Xx Sex Reversal 1
Gynecomastia, Elevated circulating follicle stimulating hormone level, Clitoral hypertrophy, Azoo... OMIM:400045
Multiple Endocrine Neoplasia Type 1
Thymoma, Parathyroid carcinoma, Decreased male libido, Increased circulating cortisol level, Meni... ORPHA:652
Tyshchenko Syndrome
Cryptorchidism, Thick hair, Pulmonic stenosis, Supernumerary nipple, Low anterior hairline OMIM:615102
Gardner Syndrome
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... ORPHA:79665
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Limb-Mammary Syndrome
Hypoplastic nipples, Hypohidrosis OMIM:603543
Peroxisome Biogenesis Disorder 5A (Zellweger)
Small for gestational age, Cryptorchidism, Mitral regurgitation, Death in adolescence, Clitoral h... OMIM:614866
Pseudohypoparathyroidism Type 1C
Oligomenorrhea, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Decreas... ORPHA:79444
Hydatidiform Mole
Miscarriage, Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Gray Platelet Syndrome
Bruising susceptibility, Myelodysplasia, Abnormality of the menstrual cycle, Abnormal bleeding, E... ORPHA:721
Ulnar-Mammary Syndrome
Delayed puberty, Shawl scrotum, Micropenis, Breast hypoplasia, Sparse axillary hair, Hypoplastic ... OMIM:181450
Crouzon Syndrome
Dysgerminoma OMIM:123500
Mgat2-Cdg
Long eyelashes, Reflex asystolic syncope, Hypoplastic nipples, Arrhythmia, Failure to thrive, Abn... ORPHA:79329
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Varicocele, Azoospermia, Increase... ORPHA:8
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cryptorchidism, Micropenis, Sparse axillary hair, Hypoplastic nipples, Xerostomia, Decreased resp... OMIM:604292
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Synophrys, Low posterior hairline, Tricuspid re... OMIM:618929
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse body hair, Micropenis, Patchy alopecia, Supernumerary nipple, Vaginal dryness, Absent eyel... OMIM:106260
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... ORPHA:247806
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:613546
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Splenopancreatic fusion, Micropenis, Hypoplastic nipples, Hypoplastic la... OMIM:269150
Solitary Fibrous Tumor
Neoplasia of the pleura, Neoplasm, Soft tissue neoplasm, Uterine neoplasm, Neoplasm of the liver,... ORPHA:2126
2P15P16.1 Microdeletion Syndrome
Decreased testicular size, Long eyelashes, Mitral regurgitation, Hypogonadism, Gynecomastia, Supe... ORPHA:261349
Proteus Syndrome
Meningioma, Cachexia, Neoplasm of the central nervous system, Macroorchidism, Retinal hamartoma, ... ORPHA:744
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Decreased serum leptin, Decreased adiponectin level, Insulin-... ORPHA:79085
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Multiple cutaneous leiomyomas, Papillary renal cell carcinoma type 2, Uterin... ORPHA:523
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cryptorchidism, Micropenis, Absence of Stensen duct, Sparse axillary hair, Hypoplastic nipples, X... OMIM:129900
Tetragametic Chimerism
Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, Gonadal dysgenesis with fe... ORPHA:199310
Sialuria
Synophrys, Hypoplastic nipples, Low posterior hairline, Hirsutism, Generalized hirsutism OMIM:269921
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Supernumerary nipple, Truncal obesity, Alopecia, Hypospadias ORPHA:3224
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hyp... ORPHA:2519
Woods Syndrome
Supernumerary nipple, Frontal hirsutism OMIM:615236
Obsolete: Primary Pigmented Nodular Adrenocortical Disease
Cutaneous myxoma, Diabetes mellitus, Increased circulating cortisol level, Increased urinary cort... ORPHA:189439
Cowden Syndrome
Adenoma sebaceum, Cavernous hemangioma, Meningioma, Colorectal polyposis, Fibroma, Abnormal penis... ORPHA:201
Acces Syndrome
Supernumerary nipple, Sparse scalp hair, Failure to thrive OMIM:619959
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Nablus Mask-Like Facial Syndrome
Cryptorchidism, Micropenis, Wide intermamillary distance, Hypoplastic nipples, Low anterior hairl... OMIM:608156
Congenital Factor V Deficiency
Hematochezia, Gingival bleeding, Prolonged bleeding after dental extraction, Bruising susceptibil... ORPHA:326
Pseudohypoparathyroidism Type 1A
Oligomenorrhea, Elevated calcitonin, Elevated circulating parathyroid hormone level, Pseudohypopa... ORPHA:79443
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Capillary leak, Ovarian cyst, Increased circulating gonadotro... ORPHA:64739
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Cryptorchidism, Small for gestational age, Micropenis, Sparse ey... OMIM:216340
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:176400
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Bladder neoplasm, Neoplasm of the rectum, Seborrheic keratosis, Colon cancer, Meningioma, Breast ... ORPHA:454840
Pituitary Carcinoma
Hypopituitarism, Hyperpituitarism, Elevated circulating growth hormone concentration, Pituitary p... ORPHA:300385
Mast Cell Sarcoma
Weight loss, Sarcoma ORPHA:66661
Blepharophimosis With Facial And Genital Anomalies And Mental Retardation
Small for gestational age, Shawl scrotum, Long eyelashes, Supernumerary nipple, Low posterior hai... OMIM:604314
Incontinentia Pigmenti
Breast hypoplasia, Supernumerary nipple, Hypoplastic nipples, Fine hair, Atrophic, patchy alopeci... OMIM:308300
Isolated Splenogonadal Fusion
Testicular mass, Abnormal penis morphology, Increased circulating gonadotropin level, Bilateral c... ORPHA:457083
Skin Creases, Congenital Symmetric Circumferential, 1
Localized neuroblastoma, Hypoplastic nipples, Wide intermamillary distance OMIM:156610
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Supernumerary nipple, Synophrys OMIM:616083
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Pancreatitis, Decreased serum leptin, Decreased adiponectin l... ORPHA:435651
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Aplasia of the fallopian tube, Primary ameno... OMIM:158330
Van Maldergem Syndrome 2
Cryptorchidism, Micropenis, Hypoplastic nipples, High anterior hairline, Bifid scrotum, Hypospadias OMIM:615546
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Micropenis, Supernumerary nipple, Leukemia, Myelodysplasia, Highly arched eyebrow OMIM:619951
Familial Adenomatous Polyposis
Adenocarcinoma of the small intestine, Colorectal polyposis, Astrocytoma, Papillary thyroid carci... ORPHA:733
Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia, Thrombocytopenia, Abnormality of iron homeostasis... ORPHA:848
Short-Rib Thoracic Dysplasia 12
Wide intermamillary distance, Ambiguous genitalia, Hypoplastic nipples, Neonatal death, Hamartoma... OMIM:269860
Filippi Syndrome
Supernumerary nipple, Cryptorchidism ORPHA:3255
Alg9-Cdg
Hypoplasia of the ovary, Hypoplastic nipples, Low posterior hairline, Tricuspid regurgitation, Bi... ORPHA:79328
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Polycystic ovaries, Hirsutism, Enlarged polycy... ORPHA:90301
Developmental And Epileptic Encephalopathy 51
Supernumerary nipple, Failure to thrive OMIM:617339
Yellow Nail Syndrome
Pulmonary arterial hypertension, Renal neoplasm, Neoplasm, Biliary tract neoplasm, Neoplasm of th... ORPHA:662
Trichohepatoneurodevelopmental Syndrome
Long eyelashes, Recurrent pancreatitis, Synophrys, Hypoplastic nipples, Curly hair, Coarse hair, ... OMIM:618268
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Increased size of the clitoris, Primary amenorrhea, Ambiguous genitalia, Elevate... ORPHA:95699
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased testicular size, Eunuchoid habitus, Elevated circulating follicle stimulating hormone l... ORPHA:3044
Intellectual Developmental Disorder, Autosomal Recessive 65
Supernumerary nipple, Cryptorchidism, Hypospadias OMIM:618109
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abnormal libido, Hyperaldosteronism, Abnormal response to corticotropin releasing hormone stimula... ORPHA:189427
Attenuated Familial Adenomatous Polyposis
Papilloma, Colorectal polyposis, Astrocytoma, Duodenal polyposis, Neoplasm of the stomach, Fibrom... ORPHA:220460
Testicular Agenesis
Absent testis, Micropenis, Ambiguous genitalia, Urethrovaginal fistula, Urogenital sinus anomaly,... ORPHA:325124
Czeizel-Losonci Syndrome
Hypoplastic nipples, Wide intermamillary distance ORPHA:2437
Pigmented Nodular Adrenocortical Disease, Primary, 2
Bruising susceptibility, Increased circulating cortisol level, Pancreatitis, Hypertension, Trunca... OMIM:610475
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hypohidrosis, Supernumerary nipple, Fine hair, Hypoplasia of penis, Hypothyroidis... ORPHA:1812
Mccune-Albright Syndrome
Abnormal endocrine physiology, Cutaneous myxoma, Increased circulating cortisol level, Macroorchi... ORPHA:562
Opsoclonus-Myoclonus Syndrome
Neoplasm, Melanoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Ovarian te... ORPHA:1183
Cowden-Like syndrome
Breast carcinoma, Uterine leiomyoma, Endometrial carcinoma, Papillary thyroid carcinoma OMIM:612359
Rapp-Hodgkin Syndrome
Hypohidrosis, Supernumerary nipple, Uncombable hair, Fine hair, Decreased number of sweat glands,... OMIM:129400
Methemoglobinemia And Ambiguous Genitalia
Male pseudohermaphroditism, Micropenis, Ambiguous genitalia, Decreased circulating dehydroepiandr... OMIM:250790
Congenital Factor X Deficiency
Subarachnoid hemorrhage, Prolonged prothrombin time, Gingival bleeding, Prolonged bleeding after ... ORPHA:328
Bainbridge-Ropers Syndrome
Cryptorchidism, Long eyelashes, Supernumerary nipple, Synophrys, Death in infancy, Thick eyebrow,... OMIM:615485
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency, Failure to thrive OMIM:619518
21Q22.11Q22.12 Microdeletion Syndrome
Hypoplastic nipples, Failure to thrive in infancy, Nail dystrophy ORPHA:261323
Primary Lipodystrophy
Pancreatitis, Polycystic ovaries, Cardiomyopathy, Hypertension, Menometrorrhagia, Angina pectoris... ORPHA:90970
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... OMIM:300946
Neurofibromatosis Type 1
Abnormal hair quantity, Delayed puberty, Cryptorchidism, Neoplasm, Spinal neurofibroma, Meningiom... ORPHA:636
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Increased circulating prola... ORPHA:91350
Afibrinogenemia, Congenital
Death in childhood, Gingival bleeding, Prolonged bleeding after dental extraction, Death in adole... OMIM:202400
Parathyroid Carcinoma
Renal hamartoma, Parathyroid carcinoma, Elevated circulating parathyroid hormone level, Pancreati... ORPHA:143
Large Congenital Melanocytic Nevus
Neoplasm, Cutaneous melanoma, Neoplasm of the skin, Generalized hirsutism, Rhabdomyosarcoma, Sarcoma ORPHA:626
Monosomy 9Q22.3
Cardiac fibroma, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Ovarian fibroma, Basal cel... ORPHA:77301
2Q37 Microdeletion Syndrome
Wide intermamillary distance, Supernumerary nipple, Highly arched eyebrow, Sparse eyebrow, Nephro... ORPHA:1001
Generalized Glucocorticoid Resistance Syndrome
Oligomenorrhea, Adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia, Front... ORPHA:786
Cornelia De Lange Syndrome 1
Cryptorchidism, Curly eyelashes, Long eyelashes, Synophrys, Hypoplastic nipples, Low posterior ha... OMIM:122470
Acromesomelic Dysplasia 3
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:609441
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Decreased testicular size, Abnormal T-wave, Micropenis, Diabetes... OMIM:241080
Tuberous Sclerosis 2
Angiofibromas, Adenoma sebaceum, Optic nerve glioma, Chordoma, Renal angiomyolipoma, Renal cell c... OMIM:613254
Cornelia De Lange Syndrome
Delayed puberty, Cryptorchidism, Curly eyelashes, Long eyelashes, Primary amenorrhea, Synophrys, ... ORPHA:199
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Astrocytoma, Duodenal polyposis, Ovarian cyst, Uterine leiomyoma, Thyroid... OMIM:617100
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Kleefstra Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Arrhythmia, Synophrys, Obesity, Hypoplasia of p... ORPHA:261494
Myotonic Dystrophy 2
Hypogonadism, Frontal balding, Elevated circulating follicle stimulating hormone level, Palpitati... OMIM:602668
African Trypanosomiasis
Abnormality of circulating cortisol level, Abnormal EKG, Miscarriage, Myocarditis, Gynecomastia, ... ORPHA:3385
Monosomy 22
Micropenis, Meningioma, Synophrys, Schwannoma, Hyperhidrosis, Sparse hair, Gonadal neoplasm, Apla... ORPHA:96123
Multiple Pterygium Syndrome, Escobar Variant
Absence of labia majora, Cryptorchidism, Hypoplastic nipples, Exostosis of the external auditory ... OMIM:265000
Grfoma
Adrenocortical adenoma, Increased circulating cortisol level, Cholelithiasis, Neoplasm of the lun... ORPHA:97261
Liposarcoma
Weight loss, Sarcoma ORPHA:69078
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Central hypothyroidism, Abnormal thyroid-stimulating hormone level, Ty... OMIM:616113
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Primary amenorrhea, Abnormality of the ovary, Hyperinsulinemia, Myocardial infar... ORPHA:99413
Turner Syndrome
Delayed puberty, Primary amenorrhea, Abnormality of the ovary, Hyperinsulinemia, Myocardial infar... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Primary amenorrhea, Abnormality of the ovary, Hyperinsulinemia, Myocardial infar... ORPHA:99228
Monosomy X
Delayed puberty, Primary amenorrhea, Abnormality of the ovary, Hyperinsulinemia, Myocardial infar... ORPHA:99226
Klippel-Trénaunay Syndrome
Hemangioma, Pulmonary embolism, Abnormality of the menstrual cycle, Gastrointestinal hemorrhage, ... ORPHA:90308
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Decreased testicular size, Abnormal T-wave, Mic... ORPHA:3464
Bohring-Opitz Syndrome
Thick hair, Wide intermamillary distance, Supernumerary nipple, Low anterior hairline, Failure to... OMIM:605039
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, Sparse eyebrow OMIM:612530
Bardet-Biedl Syndrome 1
Decreased testicular size, Micropenis, Hypogonadism, Diabetes mellitus, Abnormality of the ovary,... OMIM:209900
Peutz-Jeghers Syndrome
Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Gynecomastia, Neoplasm of the pancr... OMIM:175200
Postaxial Acrofacial Dysostosis
Supernumerary nipple ORPHA:246
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Low-set nipples, Hypoplastic nipples, Acute lymphoblastic leukemia, Fine hair, Sparse lateral eye... OMIM:280000
Ppoma
Elevated circulating growth hormone concentration, Abnormality of the thyroid gland, Adrenocortic... ORPHA:97278
Trisomy 12P
Supernumerary nipple, Thick eyebrow ORPHA:1699
Pallister-Hall Syndrome
Hypopituitarism, Ambiguous genitalia, Central adrenal insufficiency, Adrenocorticotropic hormone ... ORPHA:672
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Aplasia/Hypoplasia of the nipples, Supernumerary nipple, Low posterior hairline, Bifid uterus, Sp... ORPHA:1521
Ring Chromosome 12 Syndrome
Hemangioma, Small for gestational age, Cryptorchidism, Breast hypoplasia, Dystrophic toenail, Ute... ORPHA:1439
Gapo Syndrome
Breast hypoplasia, Hypoplastic nipples, Alopecia, Sparse eyebrow, Sparse hair, Sparse eyelashes OMIM:230740
Culler-Jones Syndrome
Hypopituitarism, Cryptorchidism, Micropenis, Hypogonadism, Diabetes insipidus, Ectopic posterior ... OMIM:615849
Aarskog-Scott Syndrome
Delayed puberty, Cryptorchidism, Testicular atrophy, Shawl scrotum, Elevated circulating follicle... OMIM:305400
Hyperparathyroidism-Jaw Tumor Syndrome
Renal hamartoma, Elevated circulating parathyroid hormone level, Pancreatitis, Shortened QT inter... ORPHA:99880
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Cryptorchidism, Supernumerary nipple, Synophrys, Highly arched eyebrow, Chordee OMIM:616728
Bone Marrow Failure Syndrome 6
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia OMIM:618849
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Supernumerary nipple, Synophrys, Thick eyebrow, High anterior hairline, Sparse eyebrow, Inverted ... OMIM:620098
Vipoma
Benign gastrointestinal tract tumors, Elevated circulating growth hormone concentration, Hematoch... ORPHA:97282
Multiple Endocrine Neoplasia, Type Iv
Elevated circulating growth hormone concentration, Carcinoma, Pancreatic endocrine tumor, Renal a... OMIM:610755
Char Syndrome
Supernumerary nipple ORPHA:46627
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Supernumerary nipple OMIM:614376
Milroy Disease
Angiosarcoma, Neoplasm of the skin, Hydrocele testis ORPHA:79452
Retinoblastoma
Lymphoma, Melanoma, Subretinal pigment epithelium hemorrhage, Ewing sarcoma, Glioma, Leukemia, Pi... ORPHA:790
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Acromesomelic Dysplasia, Grebe Type
Death in infancy, Sarcoma ORPHA:2098
Johanson-Blizzard Syndrome
Death in childhood, Exocrine pancreatic insufficiency, Small for gestational age, Cryptorchidism,... OMIM:243800
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Supernumerary nipple OMIM:616579
Wiskott-Aldrich Syndrome
Gingival bleeding, Intracranial hemorrhage, Internal hemorrhage, Abnormality of the menstrual cyc... ORPHA:906
Somatostatinoma
Elevated circulating growth hormone concentration, Abnormality of the thyroid gland, Adrenocortic... ORPHA:97283
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Supernumerary nipple, Synophrys, High anterior hairline, Sparse eyebrow, Hypertri... ORPHA:477993
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Renal cell carcinoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Cuta... OMIM:150800
Familial Adenomatous Polyposis 1
Carcinoma, Adrenocortical adenoma, Colon cancer, Small intestine carcinoid, Multiple gastric poly... OMIM:175100
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Shawl scrotum, Long eyelashes, Wide intermamillary distance, Supernumerary nipple, Synophrys, Low... OMIM:213980
Nelson Syndrome
Increased circulating prolactin concentration, Pituitary corticotropic cell adenoma, Increased ci... ORPHA:199244
Mastocytosis
Acute leukemia, Hypotension, Arrhythmia, Chronic leukemia, Gastrointestinal hemorrhage, Telangiec... ORPHA:98292
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Carpenter Syndrome 2
Cryptorchidism, Shawl scrotum, Micropenis, Wide intermamillary distance, Supernumerary nipple, Hy... OMIM:614976
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm, Neoplasm of the adrenal cortex, Uterine neoplasm, Hashimoto thyroiditis, Meningioma, In... ORPHA:109
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Vulvar neoplasm, Uterine neoplasm, Abnormality of the female genitalia, Fibroma, Failure to thriv... ORPHA:1018
Desmoid Tumor
Fibroma, Gastrointestinal hemorrhage, Neoplasm of the skin, Desmoid tumors, Intestinal polyposis ORPHA:873
Pitt-Hopkins Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Sparse medial eyebrow, Frontal upsweep of hair OMIM:610954
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis ORPHA:621
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Cryptorchidism, Pulmonary arterial hypertension, External genital hypoplasia, Wide i... ORPHA:96334
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level, Sex reversal OMIM:613080
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary nipple, Widow's peak OMIM:619122
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Mitral regurgitation, Hypertrichosis, Hypothyroidism OMIM:619750
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Nmda Receptor Encephalitis
Neoplasm of the thymus, Neoplasm of the lung, Ovarian teratoma, Neoplasm of the breast, Hodgkin l... ORPHA:217253
Postaxial Acrofacial Dysostosis
Supernumerary nipple, Cryptorchidism, Micropenis OMIM:263750
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, Carcinoma, Ambiguous genitalia, External genital hypoplasia, Gynecomas... OMIM:610644
Gastrointestinal Stromal Tumor
Neoplasm of the rectum, Neoplasm of the stomach, Gastrointestinal stroma tumor, Gastrointestinal ... ORPHA:44890
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Micropenis, Supernumerary nipple, Highly arched eyebrow, Heart murmur, Obesity OMIM:618653
Incontinentia Pigmenti
Pulmonary arterial hypertension, Verrucae, Supernumerary nipple, Dystrophic toenail, Alopecia, Co... ORPHA:464
Au-Kline Syndrome
Cryptorchidism, Wide intermamillary distance, Supernumerary nipple, Hypertension, Failure to thri... OMIM:616580
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Wide intermamillary distance, Supernumerary nipple, Failure to thrive, Dilated third ventricle, H... ORPHA:397715
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Exostoses, Neonatal death, Irregular menstruation, Uterine leiom... OMIM:616482
Hyperphosphatasia-Intellectual Disability Syndrome
Supernumerary nipple, Highly arched eyebrow, Telangiectasia ORPHA:247262
Simpson-Golabi-Behmel Syndrome
Cryptorchidism, Neoplasm, Supernumerary nipple, Pancreatic islet-cell hyperplasia, Cardiomyopathy... ORPHA:373
Interstitial Cystitis
Dyspareunia, Abnormality of the menstrual cycle, Abnormal labia morphology, Abnormal vagina morph... ORPHA:37202
Pitt-Hopkins Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Failure to thrive, Hodgkin lymphoma ORPHA:2896
Hypoplasminogenemia
Abnormality of the ovary, Cervicitis, Abnormal fallopian tube morphology ORPHA:722
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... ORPHA:231222
Developmental Delay With Or Without Dysmorphic Facies And Autism
Pulmonary arterial hypertension, Cryptorchidism, Microphallus, Supernumerary nipple, Highly arche... OMIM:618454
Ablepharon-Macrostomia Syndrome
Micropenis, Ambiguous genitalia, Hypoplastic nipples, Absent eyelashes, Hypoplastic labia majora,... OMIM:200110
3Mc Syndrome
Supernumerary nipple, Highly arched eyebrow, Bilateral cryptorchidism ORPHA:293843
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Limb ataxia, Truncal ataxia, Broad-based gait OMIM:617101
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Crimean-Congo Hemorrhagic Fever