Gene Summary

Name:
large tumor suppressor
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 1.33×10-06
decreased hemoglobin content Lats1em1(IMPC)H HOM Early adult 1.37×10-06
decreased prepulse inhibition Lats1em1(IMPC)H HOM   Early adult 1.31×10-05
increased circulating alanine transaminase level Lats1em1(IMPC)H HOM Early adult 2.02×10-05
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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Eunuchoid habitus, Leydig cell insensitivity to gonadotropin, Micropenis, Hyp... OMIM:308750
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Eunuchoid habitus, Leydig cell in... OMIM:308700
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Prostate cancer, Breast carcin... ORPHA:157798
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Abnormal... ORPHA:145
Post-Traumatic Pituitary Deficiency
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... ORPHA:95619
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:619613
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Hirsutism, Gonadal dysgenesis with fe... ORPHA:206484
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Alopecia,... ORPHA:453533
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... ORPHA:91348
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Werner Syndrome
Telangiectasia of the skin, Miscarriage, Ovarian neoplasm, Neoplasm of the small intestine, Neopl... ORPHA:902
Ring Chromosome Y Syndrome
Ambiguous genitalia, female, Female infertility, Streak ovary, Abnormality of the male genitalia,... ORPHA:261529
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Congenital adrenal hypoplasia, Decreased circulating luteinizing hormone level, M... OMIM:202150
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Ovarian Cancer
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma OMIM:167000
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Increased serum testosterone level, Hirsutism, Fibrosarcoma, Abnormal end... ORPHA:314478
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Squamous cell carcino... ORPHA:50944
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
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... ORPHA:2235
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Micropenis, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone con... OMIM:619761
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Neoplasm, Generalized hirsutism, Ovarian neoplasm, Hypopigmentation ... ORPHA:2221
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Meningioma
Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abnormal hy... ORPHA:2495
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Absent nipple, Male urethral meatus stenosis, Hypoplastic areola, Hypoplastic nipples, Cryptorchi... OMIM:616001
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Lymphangioma, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyroid gland,... ORPHA:137608
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Decreased circulating follicle stimu... OMIM:229070
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Non-Functioning Pituitary Adenoma
Impotence, Central adrenal insufficiency, Decreased fertility in males, Erectile dysfunction, Hyp... ORPHA:91349
Carney Complex
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Increased circulating insulin-like... ORPHA:1359
Subependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251639
Ependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251636
Lynch Syndrome
Neoplasm of the pancreas, Neoplasm of the rectum, Pituitary adenoma, Ovarian neoplasm, Neuroblast... ORPHA:144
Hypogonadotropic Hypogonadism 27 Without Anosmia
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... OMIM:619755
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Wide intermamillary distance, Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Precocious puberty, Uterine neoplasm, Ovarian neoplasm, Peripheral prim... ORPHA:370348
Hyperprolactinemia
Infertility, Galactorrhea, Oligomenorrhea, Menorrhagia, Agalactia, Increased circulating prolacti... OMIM:615555
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Nephroblastoma, Thyroid nodule, Embryonal rhabdomyosarcoma, Ovarian the... OMIM:180295
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Abnormal hair quantity, ... ORPHA:457059
Familial Hyperprolactinemia
Amenorrhea, Infertility, Galactorrhea, Hemorrhagic ovarian cyst, Oligomenorrhea, Menorrhagia, Fem... ORPHA:397685
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Oocyte Maturation Defect 10
Female infertility, Miscarriage OMIM:619176
Androgen Insensitivity Syndrome
Labial hypoplasia, Blind vagina, Neoplasm, Sparse axillary hair, Absent facial hair, Elevated cir... OMIM:300068
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Cachexia, Neoplasm of the central nervous system, Neo... ORPHA:83469
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re... ORPHA:226307
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea, Gonadal dysgenesis OMIM:136680
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Galactorrhea, Impotence, Decreased serum testoste... ORPHA:251623
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... ORPHA:276399
46,Xy Sex Reversal 10
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... OMIM:616425
Limb-Mammary Syndrome
Absent nipple, Sparse eyebrow, Alopecia, Bilateral breast hypoplasia, Primary amenorrhea, Hypohid... ORPHA:69085
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Absent nipple, Aplasia/Hypoplasia of the nipples, Aplasia/Hypoplasia of the breasts, Hypoplastic ... OMIM:113700
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Abs... OMIM:612964
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Sparse axillary hair, Micropenis, Hypogonadotropic hypogonadism, Gynecomastia, Prima... OMIM:146110
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... OMIM:262600
46,Xy Sex Reversal 6
Chordee, Sex reversal, Hirsutism, Sparse axillary hair, Hypospadias, Clitoral hypertrophy, Dysger... OMIM:613762
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... OMIM:614841
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Complete Androgen Insensitivity Syndrome
Blind vagina, Primary amenorrhea, Bilateral cryptorchidism, Germ cell neoplasia, Increased antimu... ORPHA:99429
Fanconi Anemia, Complementation Group S
Failure to thrive, Low anterior hairline, Ovarian neoplasm, Sparse hair, Breast carcinoma, Long e... OMIM:617883
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Cowden Syndrome 1
Hydrocele testis, Thyroiditis, Breast carcinoma, Fibroadenoma of the breast, Ovarian cyst, Hypert... OMIM:158350
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... OMIM:233420
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Ovarian neoplasm, Breast carcinoma, Benign gastrointestinal ... OMIM:158320
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Premature Ovarian Failure 20
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:619938
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Hypoplastic areola, Arrhythmia, Hypoplastic nipples, Hypogonadism OMIM:273400
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Gangliocytoma
Abnormality of the pituitary gland, Amenorrhea, Pituitary null cell adenoma, Elevated circulating... ORPHA:251937
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... ORPHA:399805
Panhypophysitis
Impotence, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating p... ORPHA:95513
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
46,Xy Sex Reversal 1
Sex reversal, Male pseudohermaphroditism, Elevated circulating luteinizing hormone level, Abnorma... OMIM:400044
Adenohypophysitis
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased serum testosterone conce... ORPHA:95512
Cerebellar Ataxia-Hypogonadism Syndrome
Supernumerary nipple, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary ax... ORPHA:1173
Ectodermal Dysplasia, Trichoodontoonychial Type
Absent nipple, Sparse hair OMIM:129510
Sheehan Syndrome
Impotence, Dyspareunia, Central adrenal insufficiency, Decreased circulating cortisol level, Orth... ORPHA:91355
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Renal cortical adenoma, Decreased circulating renin level, Epistaxis, Hypertens... ORPHA:231632
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Sec... ORPHA:2410
Oocyte Maturation Defect 8
Female infertility OMIM:619009
46,Xx Gonadal Dysgenesis
Aplasia/Hypoplasia of the breasts, Streak ovary, Primary amenorrhea, Aplasia/hypoplasia of the ut... ORPHA:243
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Sparse scalp hair, Sparse hair, Absent eyebrow, Sparse eyelashes, Sparse body hair... OMIM:614941
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Decreased serum testosterone concentration, Cryptorchidism, Small for gestatio... OMIM:300869
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Non-Acquired Panhypopituitarism
Amenorrhea, Ectopic anterior pituitary gland, Infertility, Abnormal prolactin level, Decreased re... ORPHA:90695
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Frasier Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... ORPHA:347
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Reduced circulating prol... OMIM:300888
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency OMIM:311360
Asherman Syndrome
Infertility, Miscarriage, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrua... ORPHA:137686
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent nipple, Anhidrosis, Absent hair, Sparse hair OMIM:614940
Ane Syndrome
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... ORPHA:157954
Li-Fraumeni Syndrome 2
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Primary amenorrhea, Oligome... OMIM:615300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Adult Syndrome
Absent nipple, Sparse scalp hair, Fair hair, Wide intermamillary distance, Sparse axillary hair, ... OMIM:103285
Pituitary Apoplexy
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... ORPHA:95613
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Sparse axillary hair, Bilateral b... ORPHA:52901
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased circulating androgen concentration, Decreased fertility in males, Hypergonadotropic hyp... ORPHA:90796
Premature Ovarian Failure 9
Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:615724
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Prostate cancer, Breast carcinoma... OMIM:151623
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Adult Syndrome
Absent nipple, Sparse scalp hair, Alopecia, Hypoplastic nipples, Breast hypoplasia, Fine hair ORPHA:978
Hyperostosis Frontalis Interna
Hypertrichosis, Galactorrhea, Irregular menstruation, Increased circulating prolactin concentrati... OMIM:144800
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Endometrial carcinoma, Ovarian neoplasm, Hereditary nonpolyposis colorectal carcinoma OMIM:614337
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Thick e... ORPHA:247768
Ovarian Dysgenesis 4
Decreased body weight, Elevated circulating follicle stimulating hormone level, Primary amenorrhe... OMIM:616185
X-Linked Intellectual Disability, Van Esch Type
Failure to thrive, Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptor... ORPHA:163976
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Gonadal calcification, Basal cell carcinoma, Ovarian fibroma,... ORPHA:314473
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Neuroendocrine Neoplasm Of Appendix
Increased serum serotonin, Adrenocorticotropic hormone excess, Ovarian neoplasm, Tricuspid stenos... ORPHA:100079
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Abnormal circulating hormone concentration, Insuli... ORPHA:280356
Ollier Disease
Chondrosarcoma, Neoplasm, Precocious puberty, Lymphangioma, Hemangioma, Multiple enchondromatosis... ORPHA:296
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
Familial Pancreatic Carcinoma
Neoplasm of the liver, Exocrine pancreatic insufficiency, Breast carcinoma, Melanoma, Ovarian car... ORPHA:1333
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gynecomastia, Primary amenor... OMIM:614837
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Barber-Say Syndrome
Absent nipple, Inverted nipples, Hypertrichosis, Low anterior hairline, Sparse eyebrow, Sparse ey... OMIM:209885
Lhermitte-Duclos Disease
Neoplasm of the thyroid gland, Trichilemmoma, Ovarian neoplasm, Fibroadenoma of the breast ORPHA:65285
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Breast carcinoma, Micropenis, Small for gestational age... ORPHA:1916
Atypical Werner Syndrome
Telangiectasia of the skin, Hyperinsulinemia, Ovarian neoplasm, Alopecia, Neoplasm of the small i... ORPHA:79474
Ulnar-Mammary Syndrome
Hypoplasia of penis, Arrhythmia, Hypoplastic nipples, Absent axillary hair, Breast aplasia, Abnor... ORPHA:3138
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated c... OMIM:618187
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Sparse body hair, Irregular menstruation... ORPHA:1809
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
49,Xxxyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:261534
Fontaine Progeroid Syndrome
Absent nipple, Failure to thrive, Hypertrichosis, Sparse scalp hair, Low anterior hairline, Tricu... OMIM:612289
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Polycystic Ovary Syndrome 1
Amenorrhea, Hirsutism, Oligomenorrhea, Obesity, Enlarged polycystic ovaries OMIM:184700
Acrorenal-Mandibular Syndrome
Absent nipple, Bicornuate uterus, Uterus didelphys, Unicornuate uterus, Abnormality of the breast OMIM:200980
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Hirsutism, Abnormality of the urethra, Menorrhagia, Oligomenorrhea, Polycystic ovarie... ORPHA:2795
X-Linked Intellectual Disability, Cilliers Type
Failure to thrive, Decreased serum testosterone concentration, Cryptorchidism, Hypergonadotropic ... ORPHA:163971
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Absent eyebrow, B... OMIM:305100
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... OMIM:619949
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Estrogen Resistance Syndrome
Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal development, Primary amenorrhea, ... ORPHA:785
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Sparse pubic ha... OMIM:110100
Aromatase Deficiency
Generalized hirsutism, Ambiguous genitalia, female, Type II diabetes mellitus, Eunuchoid habitus,... ORPHA:91
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Alopecia, Primary amenor... ORPHA:2232
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... OMIM:102200
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea, Decreased fertility ORPHA:1643
Congenital Factor Vii Deficiency
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Ovarian cyst, Intracranial hem... ORPHA:327
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Cortisone Reductase Deficiency 1
Infertility, Hirsutism, Precocious puberty, Alopecia, Oligomenorrhea, Obesity OMIM:604931
Combined Pituitary Hormone Deficiencies, Genetic Forms
Amenorrhea, Ectopic anterior pituitary gland, Infertility, Abnormal prolactin level, Decreased re... ORPHA:95494
Legius Syndrome
Ovarian neoplasm, Male urethral meatus stenosis, Acute monocytic leukemia, Desmoid tumors, Pulmon... ORPHA:137605
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Decreased... OMIM:618723
Ovarian Dysgenesis 2
Hirsutism, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenor... OMIM:300510
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Failure to thrive, Reduced TSH response to thyrotrop... OMIM:613038
Denys-Drash Syndrome
Ovarian gonadoblastoma, Ambiguous genitalia, female, Ambiguous genitalia, male, Male pseudohermap... OMIM:194080
Satoyoshi Syndrome
Amenorrhea, Alopecia universalis, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypop... ORPHA:3130
Central Precocious Puberty
Hypothalamic hamartoma, Premature thelarche, Increased body weight, Isosexual precocious puberty,... ORPHA:759
Polyembryoma
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... ORPHA:180229
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young, Hepatocellular adenoma OMIM:142330
Ectodermal Dysplasia With Adrenal Cyst
Abnormality of the endocrine system, Breast hypoplasia, Hypohidrosis, Hypoplastic nipples OMIM:129550
Perrault Syndrome 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233400
Prolactinoma
Impotence, Dyspareunia, Central adrenal insufficiency, Decreased fertility in males, Erectile dys... ORPHA:2965
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Hypersecretion Of Adrenal Androgens, Familial
Amenorrhea, Hirsutism, Adrenal overactivity, Premature pubarche, Increased circulating androgen c... OMIM:145295
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Primary amenorrhea, Decreased testicular size, Cryptorchidism OMIM:614880
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Eunuchoid habitus, Primary amenorrhea, Secondary amenorrhea, Increased female libido, ... ORPHA:432
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple OMIM:104350
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Martin-Probst Syndrome
Telangiectasia, Chordee, Wide intermamillary distance, Bifid scrotum, Micropenis, Hypoplastic nip... OMIM:300519
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Precocious puberty, Impotence, Decreased response to grow... ORPHA:91354
Choroidal Atrophy-Alopecia Syndrome
Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Fine hair, Ungual fibroma ORPHA:1433
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Decreased ci... ORPHA:99832
Scarf Syndrome
Wide intermamillary distance, Sparse hair, Bifid scrotum, Micropenis, Hepatocellular adenoma, Hyp... ORPHA:3134
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Labial hypoplasia, Sparse hair, Sparse eyelashes, Absent pubic hair, Hypoplastic nipples, Distich... OMIM:211370
Steinert Myotonic Dystrophy
Cholelithiasis, Testicular atrophy, Hyperinsulinemia, Impotence, Alopecia, Hypergonadotropic hypo... ORPHA:273
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Alopecia, Decreased circulating cortisol level, Premature thelarche,... ORPHA:90795
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty, Dilated cardiomyopathy ORPHA:2229
Rhabdoid Tumor
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Internal hemorrhag... ORPHA:69077
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:98754
Becker Nevus Syndrome
Supernumerary nipple, Aplasia/Hypoplasia of the breasts, Hamartoma, Hypoplastic labia minora, Abn... ORPHA:64755
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:98793
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss ORPHA:2023
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Thick eyebrow, Female infertility, Streak ovary, Hypergonadotropic hypo... ORPHA:572333
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:177904
Branchioskeletogenital Syndrome
Absent nipple, Absent external genitalia, Micropenis, Penoscrotal hypospadias, Synophrys, Highly ... ORPHA:1299
49,Xyyyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:99330
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:177901
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Intellectual Developmental Disorder, Autosomal Dominant 47
Thin eyebrow, Cryptorchidism, Supernumerary nipple, Small for gestational age OMIM:617635
Msh3-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... ORPHA:480536
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Ichthyosis With Confetti
Hypertrichosis, Decreased body weight, Hypoplastic nipples OMIM:609165
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Impotence, Central adrenal insufficiency, Decreased fertility in mal... ORPHA:91347
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Premature Ovarian Failure 11
Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Nipples, Supernumerary
Supernumerary nipple OMIM:163700
Infantile Myofibromatosis
Neoplasm of the pancreas, Abnormal hair morphology, Neoplasm of the lung, Gingival fibromatosis, ... ORPHA:2591
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Adrenocortical adenoma, Neuroendocrine neoplasm, ... ORPHA:276152
Pituitary Gigantism
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:99725
Pituitary Stalk Interruption Syndrome
Failure to thrive, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Primary a... ORPHA:95496
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma ORPHA:454
Prader-Willi Syndrome
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:739
Pterygia, Mental Retardation, And Distinctive Craniofacial Features
Hypospadias, External genital hypoplasia, Hypoplastic nipples OMIM:177980
Nablus Mask-Like Facial Syndrome
Labial hypoplasia, Low anterior hairline, Sparse hair, Sparse eyebrow, Micropenis, Sparse eyelash... OMIM:608156
Global Developmental Delay With Speech And Behavioral Abnormalities
Cryptorchidism, Precocious puberty, Supernumerary nipple OMIM:619243
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism OMIM:612702
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
19Q13.11 Microdeletion Syndrome
Failure to thrive, Wide intermamillary distance, Supernumerary nipple, Sparse hair, Bifid scrotum... ORPHA:217346
Burkitt Lymphoma
Neoplasm of the oral cavity, Gastrointestinal hemorrhage, Abnormality of the ovary ORPHA:543
Prader-Willi-Like Syndrome
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:398073
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Basal Cell Nevus Syndrome
Hamartomatous stomach polyps, Medulloblastoma, Odontogenic keratocysts of the jaw, Rhabdomyoma, B... OMIM:109400
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Micropenis, Hypogonadotropic hypogonadism, Gynecomastia, Primar... ORPHA:478
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hemangioma, Cryptorchidism, Hypoplastic nipples OMIM:618505
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618014
Scarf Syndrome
Low anterior hairline, Wide intermamillary distance, Sparse hair, Bifid scrotum, Micropenis, Hypo... OMIM:312830
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Miscarriage, Abnormal external... ORPHA:90794
Apert Syndrome
Hypertension, Ovarian neoplasm ORPHA:87
X-Linked Acrogigantism
Abnormality of the pituitary gland, Decreased thyroid-stimulating hormone level, Adrenocorticotro... ORPHA:300373
Barber-Say Syndrome
Failure to thrive, Generalized hirsutism, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eye... ORPHA:1231
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Micropenis, Abnormal bleeding, Bruisi... ORPHA:335
Orthostatic Hypotension 1
Atrial fibrillation, Orthostatic hypotension, Retrograde ejaculation, Reduced circulating prolact... OMIM:223360
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Adrenocortical Carcinoma
Lung adenocarcinoma, Adrenocorticotropic hormone deficiency, Paradoxical increased cortisol secre... ORPHA:1501
Hydatidiform Mole
Menometrorrhagia, Miscarriage, Hyperthyroidism, Enlarged uterus ORPHA:99927
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Enlarged pituitary gland, Galactorrhea, Panhypopituitarism, Oligospermia, Oligomenorr... ORPHA:91351
Congenital Generalized Lipodystrophy
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hypertrichosis, L... ORPHA:528
Lipodystrophy, Familial Partial, Type 3
Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Primary amenorrhea, Maternal diabetes, Ol... OMIM:604367
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Gyn... OMIM:400045
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix morphology, Pa... ORPHA:3411
Ulnar-Mammary Syndrome
Inverted nipples, Axillary apocrine gland hypoplasia, Anterior pituitary hypoplasia, Micropenis, ... OMIM:181450
Tyshchenko Syndrome
Low anterior hairline, Cryptorchidism, Supernumerary nipple, Pulmonic stenosis, Thick hair OMIM:615102
Trichoodontoonychial Dysplasia With Bone Deficiency
Sparse hair, Supernumerary nipple, Nail dystrophy OMIM:275450
Lig4 Syndrome
Amenorrhea, Failure to thrive, Telangiectasia, Micropenis, Hypothyroidism, Myelodysplasia, Crypto... OMIM:606593
Multiple Endocrine Neoplasia Type 1
Pituitary growth hormone cell adenoma, Thymoma, Increased serum serotonin, Impotence, Melena, Int... ORPHA:652
Crouzon Syndrome
Dysgerminoma OMIM:123500
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79444
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Limb-Mammary Syndrome
Hypohidrosis, Hypoplastic nipples OMIM:603543
Mgat2-Cdg
Inverted nipples, Failure to thrive, Abnormality of the endocrine system, Hirsutism, Abnormal ble... ORPHA:79329
Gray Platelet Syndrome
Bruising susceptibility, Abnormal bleeding, Abnormality of the menstrual cycle, Myelodysplasia, E... ORPHA:721
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Proteus Syndrome
Lymphangioma, Ovarian neoplasm, Sudden cardiac death, Neoplasm of the thymus, Long penis, Retinal... ORPHA:744
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Fair hair, Decreased response to growth hormone stimulation test, Sparse eyebr... OMIM:604292
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... ORPHA:8
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Tricuspid regurgitation, Micropenis, Synophrys, Cryptorchidism, Interhypoth... OMIM:618929
Schinzel-Giedion Midface Retraction Syndrome
Failure to thrive, Hypertrichosis, Bicornuate uterus, Hepatoblastoma, Micropenis, Teratoma, Hypos... OMIM:269150
Solitary Fibrous Tumor/Hemangiopericytoma
Genital neoplasm, Neoplasm, Neoplasm of the liver, Uterine neoplasm, Hypoinsulinemia, Prostate ca... ORPHA:2126
2P15P16.1 Microdeletion Syndrome
Failure to thrive, Wide intermamillary distance, Supernumerary nipple, Sparse eyebrow, Mitral reg... ORPHA:261349
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Vaginal dryness, Supernumerary nipple, Patchy alopecia, Micropenis, Sparse body hair, Hypospadias... OMIM:106260
Developmental And Epileptic Encephalopathy 51
Failure to thrive, Supernumerary nipple OMIM:617339
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Micropenis, Congenital hypothyroidism, Cryptorchidism, Pulmonary arterial h... ORPHA:2519
Sialuria
Generalized hirsutism, Synophrys, Low posterior hairline, Hypoplastic nipples OMIM:269921
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Woods Syndrome
Supernumerary nipple, Frontal hirsutism OMIM:615236
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:79085
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Hypospadias, Supernumerary nipple, Truncal obesity, Alopecia ORPHA:3224
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Multiple cutaneous leiomyomas, Uterine... ORPHA:523
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Fair hair, Decreased response to growth hormone stimulation test, Sparse hair,... OMIM:129900
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Cowden Syndrome
Enlarged polycystic ovaries, Meningioma, Neoplasm of the thyroid gland, Papilloma, Lipoma, Neopla... ORPHA:201
Primary Pigmented Nodular Adrenocortical Disease
Alopecia, Abnormal libido, Increased body weight, Cutaneous myxoma, Abdominal obesity, Pigmented ... ORPHA:189439
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hirsutism, Ovarian cyst, Hypovolemia, Hemorrhagic ovarian cys... ORPHA:64739
Acces Syndrome
Sparse scalp hair, Failure to thrive, Supernumerary nipple OMIM:619959
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Neoplasm of the rectum, Pituitary adenoma, Neoplasm of the colon, Uteri... ORPHA:440437
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Yunis-Varon Syndrome
Absent nipple, Sparse scalp hair, Severe failure to thrive, Micropenis, Small for gestational age... OMIM:216340
Congenital Factor V Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Br... ORPHA:326
Skin Creases, Congenital Symmetric Circumferential, 1
Localized neuroblastoma, Wide intermamillary distance, Hypoplastic nipples OMIM:156610
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm... ORPHA:300385
Pseudohypoparathyroidism Type 1A
Elevated calcitonin, Decreased response to growth hormone stimulation test, Reduced circulating p... ORPHA:79443
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating luteinizing hormone level, Elevated circulating follicle sti... OMIM:176400
Blepharophimosis With Facial And Genital Anomalies And Mental Retardation
Low anterior hairline, Supernumerary nipple, Small for gestational age, Hypospadias, Glandular hy... OMIM:604314
Mast Cell Sarcoma
Weight loss, Sarcoma ORPHA:66661
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Ovarian cyst, Duodenal a... ORPHA:454840
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Synophrys, Supernumerary nipple OMIM:616083
Incontinentia Pigmenti
Sparse hair, Supernumerary nipple, Alopecia, Coarse hair, Atrophic, patchy alopecia, Retinal hemo... OMIM:308300
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... ORPHA:848
Cidec-Related Familial Partial Lipodystrophy
Pancreatitis, Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycy... ORPHA:435651
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Hypertrichosis, Decreased body weight, Woolly hair, Coarse hair, Hypoplastic nipp... OMIM:618268
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased serum testosterone concentration, Eunuchoid habitus, Elevated circulating luteinizing h... ORPHA:3044
Filippi Syndrome
Cryptorchidism, Supernumerary nipple ORPHA:3255
Alg9-Cdg
Inverted nipples, Hypertrichosis, Hypoplasia of the ovary, Bicornuate uterus, Tricuspid regurgita... ORPHA:79328
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Hirsutism, Elevated circulating growth hormone concentration, Insulin-resistant diabetes mellitus... ORPHA:90301
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Abnormality of the endocrine system, Hirsutism, Aplasia/Hypoplasia of the fallopian t... OMIM:158330
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,... ORPHA:733
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189427
Short-Rib Thoracic Dysplasia 12
Wide intermamillary distance, Neonatal death, Hypoplastic nipples, Hamartoma of tongue, Ambiguous... OMIM:269860
Yellow Nail Syndrome
Neoplasm, Yellow nails, Renal neoplasm, Neoplasm of the lung, Biliary tract neoplasm, Pulmonary a... ORPHA:662
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... ORPHA:95699
Opsoclonus-Myoclonus Syndrome
Neoplasm, Neuroblastoma, Breast carcinoma, Ovarian teratoma, Melanoma, Small cell lung carcinoma,... ORPHA:1183
Mccune-Albright Syndrome
Abnormal endocrine physiology, Pancreatitis, Benign gastrointestinal tract tumors, Ovarian cyst, ... ORPHA:562
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Supernumerary nipple, Micropenis, Myelodysplasia, Cryptorchidism, Leukemia, Highly arched eyebrow OMIM:619951
Czeizel-Losonci Syndrome
Wide intermamillary distance, Hypoplastic nipples ORPHA:2437
Bainbridge-Ropers Syndrome
Failure to thrive, Hirsutism, Precocious puberty, Thick eyebrow, Supernumerary nipple, Sparse hai... OMIM:615485
Cowden-Like syndrome
Papillary thyroid carcinoma, Uterine leiomyoma, Endometrial carcinoma, Breast carcinoma OMIM:612359
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Johanson-Blizzard Syndrome
Sparse scalp hair, Failure to thrive, Exocrine pancreatic insufficiency, Fair hair, Micropenis, S... OMIM:243800
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... ORPHA:220460
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Supernumerary nipple, Aplasia/Hypoplasia of the eyebrow, Hypohidrosis, Hypot... ORPHA:1812
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Cryptorchidism, Supernumerary nipple OMIM:618109
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Low-set nipples, Sparse hair, Hypoplastic nipples, Large for gestational age, Fine hair, Acute ly... OMIM:280000
21Q22.11Q22.12 Microdeletion Syndrome
Failure to thrive in infancy, Nail dystrophy, Hypoplastic nipples ORPHA:261323
Primary Lipodystrophy
Angina pectoris, Type II diabetes mellitus, Pancreatitis, Menometrorrhagia, Polycystic ovaries, H... ORPHA:90970
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Supernumerary nipple, Micropenis, Hypospadias, Obesity, Cryptorchidism OMIM:141750
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Decreased serum testosterone concentration, Sparse hair, Abnormal T-wav... OMIM:241080
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormon... OMIM:609441
Gapo Syndrome
Sparse hair, Sparse eyebrow, Alopecia, Sparse eyelashes, Hypoplastic nipples, Breast hypoplasia OMIM:230740
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... OMIM:202400
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Intracranial hemorrh... ORPHA:91350
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Female infertility, Premature ovarian insufficiency OMIM:619518
African Trypanosomiasis
Infertility, Abnormality of the endocrine system, Impotence, Abnormal prolactin level, Abnormalit... ORPHA:3385
Monosomy 9Q22.3
Medulloblastoma, Odontogenic keratocysts of the jaw, Nephroblastoma, Rhabdomyosarcoma, Large for ... ORPHA:77301
Neurofibromatosis Type 1
Neoplasm, Chronic myelogenous leukemia, Precocious puberty, Plexiform neurofibroma, Abnormality o... ORPHA:636
2Q37 Microdeletion Syndrome
Sparse scalp hair, Wide intermamillary distance, Supernumerary nipple, Sparse eyebrow, Nephroblas... ORPHA:1001
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Hirsutism, Increased ci... ORPHA:786
Cornelia De Lange Syndrome
Failure to thrive, Generalized hirsutism, Low anterior hairline, Thick eyebrow, Hypoplasia of pen... ORPHA:199
Large Congenital Melanocytic Nevus
Neoplasm, Generalized hirsutism, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin ORPHA:626
Tuberous Sclerosis 2
Optic nerve glioma, Subependymal nodules, Precocious puberty, Wolff-Parkinson-White syndrome, Sub... OMIM:613254
Grfoma
Cholelithiasis, Adrenocortical adenoma, Intestinal carcinoid, Neoplasm of the small intestine, Ne... ORPHA:97261
Cornelia De Lange Syndrome 1
Hirsutism, Hypospadias, Highly arched eyebrow, Curly eyelashes, Hypoplastic nipples, Long eyelash... OMIM:122470
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Parathyroid Carcinoma
Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Pancreatitis, Parathyroid c... ORPHA:143
Liposarcoma
Weight loss, Sarcoma ORPHA:69078
Klippel-Trénaunay Syndrome
Hemangioma, Abnormality of the menstrual cycle, Pulmonary embolism, Internal hemorrhage, Gastroin... ORPHA:90308
Multiple Pterygium Syndrome, Escobar Variant
Hypospadias, Absence of labia majora, Hypoplastic nipples, Exostosis of the external auditory can... OMIM:265000
Kleefstra Syndrome
Hypoplasia of penis, Supernumerary nipple, Micropenis, Hypospadias, Arrhythmia, Synophrys, Obesit... ORPHA:261494
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Female infertility, Alopecia, Primary amenorrhea, High urinary gonadotropin lev... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Female infertility, Alopecia, Primary amenorrhea, High urinary gonadotropin lev... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Female infertility, Alopecia, Primary amenorrhea, High urinary gonadotropin lev... ORPHA:99228
Monosomy X
Hyperinsulinemia, Female infertility, Alopecia, Primary amenorrhea, High urinary gonadotropin lev... ORPHA:99226
Ppoma
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone ... ORPHA:97278
Bohring-Opitz Syndrome
Failure to thrive, Hypertrichosis, Hirsutism, Low anterior hairline, Supernumerary nipple, Wide i... OMIM:605039
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Supernumerary nipple, Sparse eyebrow OMIM:612530
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Intestinal bleeding, Uterine neoplasm, Multiple gastric polyps, Breast ... OMIM:175200
Myotonic Dystrophy 2
Type II diabetes mellitus, Premature ventricular contraction, Frontal balding, Palpitations, Olig... OMIM:602668
Postaxial Acrofacial Dysostosis
Supernumerary nipple ORPHA:246
Bardet-Biedl Syndrome 1
Abdominal obesity, Nephrogenic diabetes insipidus, Hirsutism, Micropenis, Hypertension, Truncal o... OMIM:209900
Monosomy 22
Sparse hair, Aplasia of the thymus, Micropenis, Hyperhidrosis, Sarcoma, Synophrys, Schwannoma, Me... ORPHA:96123
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hyperinsulinemia, Decreased response to growth hormone stimulation test... ORPHA:3464
Trisomy 12P
Thick eyebrow, Supernumerary nipple ORPHA:1699
Pallister-Hall Syndrome
Central adrenal insufficiency, Hypothalamic hamartoma, Midline facial capillary hemangioma, Large... ORPHA:672
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Sparse eyebrow, Bifid uterus, Abnormal reproductive system morphology, Apla... ORPHA:1521
Ring Chromosome 12 Syndrome
Hirsutism, Cryptorchidism, Small for gestational age, Hemangioma, Glandular hypospadias, Hypothyr... ORPHA:1439
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Chordee, Supernumerary nipple, Synophrys, Cryptorchidism, Highly arched eyebrow OMIM:616728
Developmental Delay With Or Without Dysmorphic Facies And Autism
Supernumerary nipple, Cryptorchidism, Highly arched eyebrow, Microphallus, Small scrotum OMIM:618454
Aarskog-Scott Syndrome
Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism... OMIM:305400
Culler-Jones Syndrome
Micropenis, Hypopituitarism, Ectopic posterior pituitary, Hypogonadism, Cryptorchidism, Anterior ... OMIM:615849
Bannayan-Riley-Ruvalcaba syndrome
Lipoma, Supernumerary nipple, Hemangioma, Multiple lipomas, Long penis, Hematochezia, Hashimoto t... OMIM:153480
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... OMIM:610755
Char Syndrome
Supernumerary nipple ORPHA:46627
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Supernumerary nipple OMIM:614376
Acromesomelic Dysplasia, Grebe Type
Sarcoma, Death in infancy ORPHA:2098
Milroy Disease
Hydrocele testis, Angiosarcoma, Neoplasm of the skin ORPHA:79452
Hyperparathyroidism-Jaw Tumor Syndrome
Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Pancreatitis, Parathyroid a... ORPHA:99880
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyoma,... OMIM:150800
Retinoblastoma
Ewing sarcoma, Vitreous hemorrhage, Retinoblastoma, Glioma, Melanoma, Rhabdomyosarcoma, Lymphoma,... ORPHA:790
Somatostatinoma
Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone concentration, M... ORPHA:97283
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Supernumerary nipple OMIM:616579
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse scalp hair, Chordee, Hypertrichosis, Supernumerary nipple, Sparse eyebrow, Hypospadias, Sy... ORPHA:477993
Vipoma
Neoplasm of the pancreas, Elevated calcitonin, Pituitary adenoma, Elevated circulating growth hor... ORPHA:97282
Wiskott-Aldrich Syndrome
Sudden cardiac death, Hematochezia, Spontaneous hematomas, Prolonged bleeding time, Recurrent int... ORPHA:906
Mastocytosis
Telangiectasia of the skin, Arrhythmia, Hypotension, Sarcoma, Chronic leukemia, Gastrointestinal ... ORPHA:98292
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Nelson Syndrome
Adrenocorticotropic hormone excess, Type II diabetes mellitus, Increased circulating cortisol lev... ORPHA:199244
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hypertrichosis, Low anterior hairline, Thick eyebrow, Supernumerary nipple, Decreased response to... OMIM:213980
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Telangiectasia, Neoplasm, Lipoma, Uterine neoplasm, Thyroid carcinoma, Subcutane... ORPHA:109
Pitt-Hopkins Syndrome
Supernumerary nipple, Micropenis, Frontal upsweep of hair, Sparse medial eyebrow, Cryptorchidism OMIM:610954
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis ORPHA:621
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Inverted nipples, Miscarriage, Wide intermamillary distance, External genital hypoplasia, Hepatob... ORPHA:96334
Desmoid Tumor
Desmoid tumors, Fibroma, Intestinal polyposis, Gastrointestinal hemorrhage, Neoplasm of the skin ORPHA:873
Interstitial Cystitis
Abnormal vagina morphology, Dyspareunia, Abnormal labia morphology, Abnormality of the urethra, A... ORPHA:37202
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Diffuse leiomyomatosis, Esophageal neoplasm, Uterine neoplasm, Abnormality of ... ORPHA:1018
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary nipple, Widow's peak OMIM:619122
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Nmda Receptor Encephalitis
Hodgkin lymphoma, Neuroblastoma, Ovarian teratoma, Orthostatic hypotension, Neoplasm of the thymu... ORPHA:217253
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism, Fibroma, Hypertrichosis, Mitral regurgitation OMIM:619750
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Postaxial Acrofacial Dysostosis
Cryptorchidism, Supernumerary nipple, Micropenis OMIM:263750
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... ORPHA:44890
Incontinentia Pigmenti
Telangiectasia of the skin, Supernumerary nipple, Alopecia, Retinal hemorrhage, Cerebral ischemia... ORPHA:464
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Micropenis, Heart murmur, Obesity, Cryptorchidism, Highly arched eyebrow OMIM:618653
Hyperphosphatasia-Intellectual Disability Syndrome
Telangiectasia, Highly arched eyebrow, Supernumerary nipple ORPHA:247262
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Failure to thrive, Wide intermamillary distance, Supernumerary nipple, Hypospadias, Dilated third... ORPHA:397715
Hypoplasminogenemia
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis ORPHA:722
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Palmoplantar hyperhidrosis, External genital hypoplasia, Hypospadias, Gynecomastia, Ovotestis, Am... OMIM:610644
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Neoplasm, Neuroblastoma, Hepatoblastoma, Hypoplasia of penis, Supernumerary ... ORPHA:373
Pitt-Hopkins Syndrome
Failure to thrive, Hodgkin lymphoma, Supernumerary nipple, Micropenis, Cryptorchidism ORPHA:2896
Ablepharon-Macrostomia Syndrome
Sparse hair, Absent eyebrow, Micropenis, Hypoplastic nipples, Ambiguous genitalia, Absent eyelash... OMIM:200110
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
3Mc Syndrome
Bilateral cryptorchidism, Highly arched eyebrow, Supernumerary nipple ORPHA:293843
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Epididymitis, Spontaneous h... ORPHA:99827
Carpenter Syndrome 2
Low anterior hairline, Wide intermamillary distance, Supernumerary nipple, Cryptorchidism, Microp... OMIM:614976
Focal Dermal Hypoplasia
Telangiectasia, Labial hypoplasia, Supernumerary nipple, Sparse hair, Brittle hair, Patchy alopec... OMIM:305600
Glucagonoma
Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone concentration, A... ORPHA:97280
Retinoblastoma
Ewing sarcoma, Vitreous hemorrhage, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma OMIM:180200
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple ORPHA:457279
Hymen, Imperforate
Amenorrhea, Hematocolpos, Imperforate hymen, Hydrocolpos OMIM:237100
Adams-Oliver Syndrome 1
Aortic valve stenosis, Supernumerary nipple, Imperforate hymen, Alopecia, Pulmonic stenosis, Hype... OMIM:100300
Lipodystrophy, Congenital Generalized, Type 1
Hirsutism, Hyperinsulinemia, Decreased serum leptin, Decreased fertility in females, Insulin-resi... OMIM:608594
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Slender build, Failure to thrive, Supernumerary nipple, Cryptorchidism, Tricuspid regurgitation, ... ORPHA:466791
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplasia of the uterus, Sparse eyebrow, Small for gestational age, Elevated circulating luteini... OMIM:618419
Lipodystrophy, Congenital Generalized, Type 2
Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Decreased serum leptin, Decreased fertili... OMIM:269700
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Tuberous Sclerosis Complex
Pituitary adenoma, Subependymal nodules, Cortical tubers, Parathyroid adenoma, Carcinoid tumor, P... ORPHA:805
Inhalational Anthrax
Internal hemorrhage, Abnormal sweat gland morphology, Hypotension ORPHA:247257
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Bruising susceptibility, Histiocytoma, Osteosarcoma, Premature graying of hair OMIM:112250
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Acquired Purpura Fulminans
Neoplasm, Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Prolonged prothro... ORPHA:49566
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Anteriorly displaced genitalia, Hypospadias, Hypoplastic nipples, Aplasia of the uterus, Cryptorc... OMIM:276820
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Neoplasm, Hypertrichosis, Cyst of the ductus choledochus, Hypoplastic nipples, Delayed puberty, A... ORPHA:480880
Lymphedema-Distichiasis Syndrome
Distichiasis, Fibrosarcoma, Arrhythmia, Diabetes mellitus ORPHA:33001
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Chromosome 13Q14 Deletion Syndrome
Cryptorchidism, Retinoblastoma, Supernumerary nipple, Micropenis OMIM:613884
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Capillary hemangioma, Cryptorchidism, Supernumerary nipple, High anterior hairline OMIM:619194
Fanconi Anemia, Complementation Group E
Short stature, Leukemia, Prolonged G2 phase of cell cycle, Small for gestational age OMIM:600901
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation