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 hemoglobin content Lats1em1(IMPC)H HOM Early adult 1.37×10-06
decreased locomotor activity Lats1em1(IMPC)H HOM   Early adult 2.08×10-08
increased grip strength Lats1em1(IMPC)H HOM Early adult 3.48×10-09
decreased grip strength Lats1em1(IMPC)H HET   Early adult 1.41×10-06
increased circulating alanine transaminase level Lats1em1(IMPC)H HOM Early adult 2.03×10-05
decreased prepulse inhibition Lats1em1(IMPC)H HOM   Early adult 1.32×10-05

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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
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Abnormal spermatogenesis, ... OMIM:228300
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Serrated Polyposis Syndrome
Bladder carcinoma, Colorectal polyposis, Schwannoma, Melanoma, Breast carcinoma, Biliary tract ne... ORPHA:157798
Maffucci Syndrome
Multiple enchondromatosis, Sarcoma, Goiter, Neoplasm of the adrenal cortex, Chondrosarcoma, Heman... ORPHA:163634
Hereditary Breast And Ovarian Cancer Syndrome
Primary peritoneal carcinoma, Melanoma, Breast carcinoma, Ovarian neoplasm, Prostate cancer, Abno... ORPHA:145
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Aplasia/Hypoplasia of the breasts, Hypogonadotropic hypogonadism, Inf... ORPHA:95619
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal cal... ORPHA:206484
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:453533
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Li-Fraumeni Syndrome
Central primitive neuroectodermal tumor, Neoplasm of the gastrointestinal tract, Adrenocortical c... ORPHA:524
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Abnormality of the male genitalia, Cryptorchidism, Streak ov... ORPHA:261529
Ovarian Cancer
Breast carcinoma, Dysgerminoma, Ovarian papillary adenocarcinoma OMIM:167000
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Schöpf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm, Basal cell carcinom... ORPHA:50944
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Breast carcinoma, Ovarian carcinoma OMIM:613399
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Primary am... ORPHA:2235
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619761
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Erectile dysfunction, Panhypopituitarism, Central adr... ORPHA:91349
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Neoplasm of the breast, Neoplasm of the respirat... ORPHA:2221
Meningioma
Focal T2 hypointense thalamic lesion, Spinal meningioma, Decreased serum estradiol, Increased cir... ORPHA:2495
Werner Syndrome
Slender build, Aplasia/Hypoplasia of the testes, Cutaneous melanoma, Meningioma, Telangiectasia o... ORPHA:902
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Lymphangioma, Congestive heart failure, Neoplasm of the breast, Hamartoma,... ORPHA:137608
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Absent nipple, Cryptorchidism, Hypoplastic areola, Highly arched eyebrow, Male urethral meatus st... OMIM:616001
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Subependymoma
Neoplasm of the breast, Spinal cord tumor, Supratentorial neoplasm, Neoplasm of the liver, Ovaria... ORPHA:251639
Ependymoma
Neoplasm of the breast, Spinal cord tumor, Supratentorial neoplasm, Neoplasm of the liver, Ovaria... ORPHA:251636
Lynch Syndrome
Neuroblastoma, Gastrointestinal hemorrhage, Colon cancer, Neoplasm of the rectum, Urinary tract n... ORPHA:144
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:226307
Rhabdomyosarcoma, Embryonal, 2
Embryonal rhabdomyosarcoma, Ovarian thecoma, Thyroid nodule, Nephroblastoma, Pleuropulmonary blas... OMIM:180295
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Neoplasm of the ... ORPHA:1359
Hyperprolactinemia
Infertility, Menorrhagia, Increased circulating prolactin concentration, Agalactia, Galactorrhea,... OMIM:615555
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the scrotum, Peripheral primitive neuroectodermal neoplasm, Spinal cord tumor, Brain ... ORPHA:370348
Desmoplastic Small Round Cell Tumor
Sarcoma, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous system, Neoplasm ... ORPHA:83469
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Galactorrhea... ORPHA:397685
Premature Ovarian Failure 7
Hypoplasia of the uterus, Absent pubic hair, Primary amenorrhea, Elevated circulating luteinizing... OMIM:612964
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Sarcoma, Polycystic ovaries, Abnormal penis morphology, Goiter, Neoplasm ... ORPHA:457059
Bdv Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating follicle stimulating hor... OMIM:619326
Oliver-Mcfarlane Syndrome
Hypogonadotropic hypogonadism, Long eyebrows, Delayed puberty, Long eyelashes, Cryptorchidism, Sm... OMIM:275400
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Androgen Insensitivity Syndrome
Primary amenorrhea, Elevated circulating luteinizing hormone level, Neoplasm, Sparse pubic hair, ... OMIM:300068
Frasier Syndrome
Male pseudohermaphroditism, Ovarian gonadoblastoma, Primary amenorrhea, Gonadal dysgenesis OMIM:136680
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Wide intermamillary distance, Hypogonadism, Decreased testicular size ORPHA:1875
Familial Multinodular Goiter
Colorectal polyposis, Medulloepithelioma, Sertoli cell neoplasm, Testicular seminoma, Ovarian neo... ORPHA:276399
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
46,Xy Sex Reversal 10
Micropenis, Gonadoblastoma, Sex reversal, Ambiguous genitalia, Dysgerminoma, Decreased testicular... OMIM:616425
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Aplasia/Hypoplasia of the nipples, Aplasia/Hypoplasia of the breasts, Hypoplastic areola, Absent ... OMIM:113700
Limb-Mammary Syndrome
Aplasia of the uterus, Primary amenorrhea, Hypohidrosis, Absent nipple, Sparse eyebrow, Aplasia o... ORPHA:69085
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Absent pubic hair, Ele... ORPHA:90793
Fanconi Anemia, Complementation Group S
Long eyelashes, Breast carcinoma, Ovarian neoplasm, Microcephaly, Failure to thrive, Low anterior... OMIM:617883
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypothyroidism, Panhypopituitarism, Reduced circulating prolactin concentr... OMIM:262600
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Infertility, Primary amenorrhea, Cryptorchidism, Micropenis, Spars... OMIM:146110
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Sparse body hair, Truncal obesity, Failure to thrive, Gynecomastia, Premature ova... ORPHA:261483
46,Xy Sex Reversal 6
Chordee, Dysgerminoma, Gonadoblastoma, Sparse axillary hair, Sex reversal, Hirsutism, Hypospadias... OMIM:613762
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absent pubic hair, Primary amenorrhea, Cryptorchidism, Micropenis,... OMIM:614841
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Decreas... OMIM:618723
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Cowden Syndrome 1
Subcutaneous lipoma, Hypothyroidism, Varicocele, Carcinoma, Breast carcinoma, Hyperthyroidism, Ov... OMIM:158350
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Absent pubic hair, Primary amenorrhea, Abnormal morphology... ORPHA:99429
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
46,Xx Gonadal Dysgenesis
Aplasia/Hypoplasia of the breasts, Primary amenorrhea, Aplasia/hypoplasia of the uterus, Decrease... ORPHA:243
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia, Hypoplastic areola, Hypoplastic nipples, Sparse hair, Hypogonadism OMIM:273400
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea OMIM:300604
Ovarian Dysgenesis 2
Primary amenorrhea, Delayed puberty, Gonadal hypoplasia, Abnormality of the uterus, Secondary ame... OMIM:300510
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Panhypophysitis
Orthostatic hypotension, Abnormality of the posterior pituitary, Panhypopituitarism, Hashimoto th... ORPHA:95513
Gangliocytoma
Adrenocorticotropic hormone excess, Decreased female libido, Amenorrhea, Pituitary prolactin cell... ORPHA:251937
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Orthostatic hypotension, Decreased fem... ORPHA:95512
46,Xy Sex Reversal 1
Primary amenorrhea, Elevated circulating luteinizing hormone level, Abnormality of female externa... OMIM:400044
Sheehan Syndrome
Orthostatic hypotension, Panhypopituitarism, Hashimoto thyroiditis, Decreased serum estradiol, Ce... ORPHA:91355
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Barber-Say Syndrome
Absent nipple, Abnormality of female external genitalia, Sparse eyebrow, Hypoplastic nipples, Abn... OMIM:209885
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse hair, Absent nipple OMIM:129510
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Ovarian neoplasm, Glucocortocoid-insensitive primary hyperaldosteronism, ... ORPHA:231632
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Cerebellar Ataxia-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Supernumerary nipp... ORPHA:1173
Hypergonadotropic Hypogonadism-Cataract Syndrome
Primary amenorrhea, Delayed puberty, Secondary growth hormone deficiency, Increased circulating g... ORPHA:2410
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Non-Acquired Panhypopituitarism
Aplasia/Hypoplasia of the breasts, Infertility, Hypogonadotropic hypogonadism, Ectopic anterior p... ORPHA:90695
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Decreased serum testosterone concentration, Sparse bod... OMIM:300869
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... ORPHA:347
Perrault Syndrome 4
Primary amenorrhea, Obesity, Decreased serum estradiol, Bicornuate uterus, Secondary amenorrhea, ... OMIM:615300
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Ane Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Abnormal response to ACTH stimulati... ORPHA:157954
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse lateral eyebrow, Absent nipple, Sparse body hair, Hypoplastic nipples, Sparse eyelashes, S... OMIM:614941
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Pituitary Apoplexy
Central diabetes insipidus, Abnormal caudate nucleus morphology, Hypopituitarism, Hypotension, El... ORPHA:95613
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... OMIM:300888
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Absent hair, Anhidrosis, Absent nipple OMIM:614940
Li-Fraumeni Syndrome 2
Sarcoma, Breast carcinoma, Meningioma, Stomach cancer, Glioma OMIM:609265
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Adult Syndrome
Fair hair, Absent nipple, Wide intermamillary distance, Hypoplastic nipples, Sparse axillary hair... OMIM:103285
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Hypopituitarism, Hypotension, Increased circulating prolactin concent... ORPHA:91354
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency, Failure to thrive ORPHA:2278
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Decreased serum testosterone concentration, Microcephaly, Absence of secondary se... ORPHA:163976
Prolactinoma
Irregular menstruation, Erectile dysfunction, Central adrenal insufficiency, Decreased fertility ... ORPHA:2965
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Li-Fraumeni Syndrome
Prostate neoplasm, Adrenocortical carcinoma, Colon cancer, Breast carcinoma, Osteosarcoma, Lung a... OMIM:151623
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Microcephaly, Decreased response to growth hormone stimulation test, Abdominal obesity, Truncal o... OMIM:618160
Adult Syndrome
Absent nipple, Sparse scalp hair, Fine hair, Hypoplastic nipples, Alopecia, Breast hypoplasia ORPHA:978
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Sarcoma, Melanoma, Oropharyngeal squamous cell carcinoma, Pancreatic ade... OMIM:606719
Hyperostosis Frontalis Interna
Irregular menstruation, Obesity, Increased circulating prolactin concentration, Galactorrhea, Dia... OMIM:144800
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Neuroendocrine Neoplasm Of Appendix
Intestinal carcinoid, Adrenocorticotropic hormone excess, Tricuspid stenosis, Appendiceal mucinou... ORPHA:100079
Diethylstilbestrol Syndrome
Decreased fertility in females, Epididymal cyst, Melanoma, Small for gestational age, Cryptorchid... ORPHA:1916
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm OMIM:614337
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Abnormality of the ovary, Basal cell carcinoma, Gonadal calci... ORPHA:314473
Lhermitte-Duclos Disease
Ovarian neoplasm, Trichilemmoma, Neoplasm of the thyroid gland, Polymicrogyria, Fibroadenoma of t... ORPHA:65285
Familial Pancreatic Carcinoma
Exocrine pancreatic insufficiency, Melanoma, Colon cancer, Breast carcinoma, Neoplasm of the live... ORPHA:1333
Ollier Disease
Visceral angiomatosis, Multiple enchondromatosis, Sarcoma, Lymphangioma, Chondrosarcoma, Neoplasm... ORPHA:296
Plin1-Related Familial Partial Lipodystrophy
Infertility, Abnormal circulating hormone concentration, Hyperinsulinemia, Polycystic ovaries, In... ORPHA:280356
49,Xxxyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Micropenis, Decreased serum testos... ORPHA:261534
Atypical Werner Syndrome
Neoplasm of the breast, Aplasia/Hypoplasia of the eyebrow, Meningioma, Telangiectasia of the skin... ORPHA:79474
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Male hypogonadism, Hypogona... OMIM:240950
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Amenorrhea, Highly arched eyebrow, Sparse pubic hair, Female infertility,... OMIM:110100
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Fontaine Progeroid Syndrome
Hypoplastic labia majora, Small scrotum, Hypertrichosis, Coarse hair, Small for gestational age, ... OMIM:612289
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased serum insulin-like growth factor 1, Pituitary prolactin cell ad... OMIM:102200
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimulation test OMIM:612781
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Abnormality of the ovary, Abnormal vagina morphology, Increased serum testost... ORPHA:247768
Ulnar-Mammary Syndrome
Arrhythmia, Cryptorchidism, Obesity, Hypoplasia of penis, Abnormality of the uterus, Hypoplastic ... ORPHA:3138
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency, Failure to thrive OMIM:619518
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Decreased serum testosterone concentration, Microcephaly, Absence of secondary se... ORPHA:163971
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Ovarian Dysgenesis 8
Hypoplastic labia majora, Primary amenorrhea, Elevated circulating luteinizing hormone level, Eun... OMIM:618187
Mehmo Syndrome
Delayed puberty, Small for gestational age, Micropenis, Obesity, Microcephaly, Male hypogonadism,... OMIM:300148
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
Combined Pituitary Hormone Deficiencies, Genetic Forms
Infertility, Septo-optic dysplasia, Decreased response to growth hormone stimulation test, Decrea... ORPHA:95494
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Hidrotic Ectodermal Dysplasia, Halal Type
Irregular menstruation, Absent eyelashes, Supernumerary nipple, Sparse body hair, Absent eyebrow,... ORPHA:1809
Polycystic Ovary Syndrome 1
Amenorrhea, Obesity, Enlarged polycystic ovaries, Hirsutism, Oligomenorrhea OMIM:184700
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Acrorenal-Mandibular Syndrome
Abnormality of the breast, Absent nipple, Uterus didelphys, Bicornuate uterus, Unicornuate uterus OMIM:200980
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Impaired growth-hormone response to insuli... OMIM:262400
Joubert Syndrome 26
Micropenis, Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hy... OMIM:616784
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Primary amenorrhea, Hyperinsulinemia, Absence of pube... ORPHA:785
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Primary amenorrhea, Cryptorchidism, Decreased serum estradiol, Microcephaly, Impoten... ORPHA:2232
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Brittle hair, Hypohidrosis, Absent nipple, Absent eyelashes, Aplasia/Hypoplastia of the eccrine s... OMIM:305100
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Delayed puberty, Obesity, Hypergonadotropic hypogonadism, Diabe... OMIM:614963
Hypothyroidism, Congenital, Nongoitrous, 8
Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone level, Decreased circula... OMIM:301033
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Delayed puberty, Hyperinsulinemia, Obesity, Central adrenal insufficienc... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Delayed puberty, Hyperinsulinemia, Obesity, Central adrenal insufficienc... ORPHA:71526
Cortisone Reductase Deficiency 1
Infertility, Obesity, Precocious puberty, Hirsutism, Oligomenorrhea OMIM:604931
Aromatase Deficiency
Generalized hirsutism, Primary amenorrhea, Cryptorchidism, Obesity, Ambiguous genitalia, female, ... ORPHA:91
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Amenorrhea, Abnormality of the ovary, Menorrhagia, Hirsutism, Abnormality of ... ORPHA:2795
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimulation test OMIM:173100
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:66628
Legius Syndrome
Multiple lipomas, Male urethral meatus stenosis, Ovarian neoplasm, Desmoid tumors, Pulmonic steno... ORPHA:137605
Denys-Drash Syndrome
Ovarian gonadoblastoma, True hermaphroditism, Ambiguous genitalia, female, Male pseudohermaphrodi... OMIM:194080
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Premature ovarian insufficiency, Goiter OMIM:617175
Central Precocious Puberty
Hypothalamic hamartoma, Obesity, Abnormality of secondary sexual hair, Isosexual precocious puber... ORPHA:759
Perrault Syndrome 6
Hypoplasia of the uterus, Irregular menstruation, Primary amenorrhea, Secondary amenorrhea, Prema... OMIM:617565
Arthrogryposis, distal, with hypopituitarism, mental retardation,and facial anomalies
Decreased response to growth hormone stimulation test, Anterior hypopituitarism OMIM:208080
Premature Ovarian Failure 5
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... OMIM:611548
Ectodermal Dysplasia With Adrenal Cyst
Hypoplastic nipples, Abnormality of the endocrine system, Hypohidrosis, Breast hypoplasia OMIM:129550
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:179494
Congenital Factor Vii Deficiency
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding, ... ORPHA:327
Perrault Syndrome 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233400
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Polycystic ovaries, Hypogonadotropic hypogonadism, Decreased fertility ORPHA:1643
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Polyembryoma
Irregular menstruation, Neuroectodermal neoplasm, Increased serum testosterone level, Neoplasm of... ORPHA:180229
Satoyoshi Syndrome
Amenorrhea, Abnormality of the ovary, Abnormal hair morphology, Abnormality of the uterus, Microc... ORPHA:3130
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Amenorrhea, Adrenal overactivity, Increased circulating androgen concentratio... OMIM:145295
Normosmic Congenital Hypogonadotropic Hypogonadism
Primary amenorrhea, Cryptorchidism, Impotence, Male hypogonadism, Absence of pubertal development... ORPHA:432
Tsh-Secreting Pituitary Adenoma
Infertility, Irregular menstruation, Euthyroid hyperthyroxinemia, Erectile dysfunction, Central a... ORPHA:91347
Bonnemann-Meinecke-Reich Syndrome
Cerebral calcification, Microcephaly, Decreased response to growth hormone stimulation test ORPHA:1261
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Premature graying of hair, Dilated cardiomyopathy, Delayed puberty, Azoospermia, Decreased respon... ORPHA:280679
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased testicular size OMIM:614880
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98754
Martin-Probst Syndrome
Hypothyroidism, Chordee, Cryptorchidism, Micropenis, Wide intermamillary distance, Microcephaly, ... OMIM:300519
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple OMIM:104350
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98793
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Colon cancer, Ovarian carcinoma, Impotence, Neoplasm of th... ORPHA:273
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177904
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced radioactive iodine uptake, Increased circulating prolactin concentration, Decreased circu... ORPHA:99832
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177901
Pterygia, Mental Retardation, And Distinctive Craniofacial Features
Abnormal cortical gyration, External genital hypoplasia, Hypoplastic nipples, Hypoplasia of the c... OMIM:177980
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Fine hair, Ungual fibroma, Sparse or absent eyelashes, Sparse hair ORPHA:1433
Scarf Syndrome
Perineal hypospadias, Cryptorchidism, Micropenis, Wide intermamillary distance, Hypoplastic nippl... ORPHA:3134
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Absent pubic hair, Fine hair, Hypoplastic nipples, Sparse eyelashes, Distichiasis, Labial hypopla... OMIM:211370
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Azoospermia, Decreased serum testo... ORPHA:99330
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Testicular adrenal rest tumor, Decreased circulating renin level, Increas... ORPHA:90795
Rhabdoid Tumor
Renal neoplasm, Sarcoma, Neoplasm of the liver, Neoplasm of the central nervous system, Hypertens... ORPHA:69077
Branchioskeletogenital Syndrome
Absent nipple, Micropenis, Highly arched eyebrow, Microcephaly, Penoscrotal hypospadias, Absent e... ORPHA:1299
Becker Nevus Syndrome
Aplasia/Hypoplasia of the breasts, Hypoplastic labia minora, Supernumerary nipple, Hamartoma, Abn... ORPHA:64755
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss ORPHA:2023
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased fertility, Decreased circulating progesterone, Polycystic ova... ORPHA:572333
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Obesity, Adrenal hypoplasia, Adrenocorticotropic ... OMIM:609734
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Septo-optic dysplasia, Primary amenorrhea, Abnormality of the hypothalamus-pituit... ORPHA:95496
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Colon cancer, Papilloma, Neoplasm of the rectum, Uterine leiomyoma, Juvenil... ORPHA:480536
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... OMIM:612965
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Prader-Willi Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:739
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty ORPHA:2229
Global Developmental Delay With Speech And Behavioral Abnormalities
Cryptorchidism, Microcephaly, Supernumerary nipple, Precocious puberty OMIM:619243
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Cryptorchidism, Supernumerary nipple, Fine hair, Wide intermamillary dist... ORPHA:217346
Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:398073
Infantile Myofibromatosis
Sarcoma, Fibroma, Abnormal hair morphology, Gingival fibromatosis, Benign neoplasm of the central... ORPHA:2591
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
Nablus Mask-Like Facial Syndrome
Cryptorchidism, Micropenis, Sparse eyebrow, Highly arched eyebrow, Hypoplastic nipples, Sparse ey... OMIM:608156
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
Premature Ovarian Failure 11
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomenorrhea OMIM:616946
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Pituitary Gigantism
Premature pubarche, Amenorrhea, Increased serum insulin-like growth factor 1, Pituitary prolactin... ORPHA:99725
Nipples, Supernumerary
Supernumerary nipple OMIM:163700
Basal Cell Nevus Syndrome
Cardiac fibroma, Ovarian fibroma, Odontogenic keratocysts of the jaw, Cardiac rhabdomyoma, Calcif... OMIM:109400
Acquired Ichthyosis
Lymphoma, Sarcoma, Multiple myeloma, Neoplasm ORPHA:454
Apert Syndrome
Absent septum pellucidum, Hypertension, Agenesis of corpus callosum, Ovarian neoplasm ORPHA:87
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis OMIM:612702
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Premature graying of hair, Dilated cardiomyopathy, Azoospermia, Decreased response to growth horm... OMIM:300845
Temple Syndrome
Small for gestational age, Cryptorchidism, Obesity, Precocious puberty, Type II diabetes mellitus... ORPHA:254516
Nut Midline Carcinoma
Ewing sarcoma, Squamous cell carcinoma, Leukemia, Neuroblastoma, Neoplasm, Oropharyngeal squamous... ORPHA:443167
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hemangioma, Hypoplastic nipples, Cryptorchidism OMIM:618505
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Primary am... ORPHA:478
Pseudohypoparathyroidism Type 1C
Cerebral calcification, Pseudohypoparathyroidism, Pituitary resistance to thyroid hormone, Obesit... ORPHA:79444
Isolated Growth Hormone Deficiency, Type Iv
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:618157
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... ORPHA:90794
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Scarf Syndrome
Perineal hypospadias, Cryptorchidism, Micropenis, Wide intermamillary distance, Hypoplastic nippl... OMIM:312830
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, E... ORPHA:1772
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Central diabetes insipidus, Fair hair, Hypogonadotropic hypogonadism, Absence of Stensen duct, Cr... OMIM:604292
Barber-Say Syndrome
Generalized hirsutism, Shawl scrotum, Aplasia/Hypoplasia of the eyebrow, Hypoplastic nipples, Spa... ORPHA:1231
Tyshchenko Syndrome
Cryptorchidism, Supernumerary nipple, Pulmonic stenosis, Thick hair, Low anterior hairline, Hypop... OMIM:615102
Lig4 Syndrome
Hypothyroidism, Amenorrhea, Cryptorchidism, Micropenis, Microcephaly, Failure to thrive, Myelodys... OMIM:606593
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hypothyroidism, Microcephaly, Pulmon... ORPHA:2519
Burkitt Lymphoma
Abnormality of the ovary, Neoplasm of the oral cavity, Gastrointestinal hemorrhage ORPHA:543
4H Leukodystrophy
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Delayed puberty, Hyperintensity... ORPHA:289494
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Panhypopituitarism, Anterior hypopituitarism, Increased circulating p... ORPHA:91351
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Elevated circulating luteinizing hormone level, True hermaphroditism, Gyn... OMIM:400045
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Abnormality of reproductive system physiolog... ORPHA:1501
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Congenital Generalized Lipodystrophy
Precocious puberty in females, Amenorrhea, Oligomenorrhea, Polycystic ovaries, Hyperinsulinemia, ... ORPHA:528
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormal corpus callosum morphology, Supernumerary nipple, Truncal obesity, Cerebral cortical atr... ORPHA:3224
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Abnormal umbilical stump bleeding, Bruising susceptibility, Micropenis,... ORPHA:335
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Cerebral calcification, Decreased response to growth hormone stimulation test OMIM:225755
Lipodystrophy, Familial Partial, Type 3
Primary amenorrhea, Hyperinsulinemia, Polycystic ovaries, Insulin-resistant diabetes mellitus, Hy... OMIM:604367
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Abnormality of the uterine cervix, Partial vaginal septum, Dysmenorrhea, Hydrocolpos, Uterus dide... ORPHA:3411
Ulnar-Mammary Syndrome
Small scrotum, Inverted nipples, Anterior pituitary hypoplasia, Sparse lateral eyebrow, Micropeni... OMIM:181450
Schinzel-Giedion Midface Retraction Syndrome
Hypoplastic labia majora, Hepatoblastoma, Teratoma, Small scrotum, Cerebral atrophy, Hypertrichos... OMIM:269150
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Trichoodontoonychial Dysplasia With Bone Deficiency
Supernumerary nipple, Sparse hair, Nail dystrophy OMIM:275450
Multiple Endocrine Neoplasia Type 1
Intestinal carcinoid, Pituitary corticotropic cell adenoma, Abnormal circulating aldosterone, Pul... ORPHA:652
Silver-Russell Syndrome 1
Craniopharyngioma, Small for gestational age, Testicular seminoma, Congenital posterior urethral ... OMIM:180860
Developmental And Epileptic Encephalopathy 51
Failure to thrive, Supernumerary nipple, Hypoplasia of the corpus callosum OMIM:617339
Gardner Syndrome
Hepatoblastoma, Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Thyroid n... ORPHA:79665
Yunis-Varon Syndrome
Agenesis of corpus callosum, Small for gestational age, Absent nipple, Cryptorchidism, Micropenis... OMIM:216340
Mgat2-Cdg
Inverted nipples, Progressive microcephaly, Arrhythmia, Long eyelashes, Hypoplastic nipples, Fail... ORPHA:79329
Crouzon Syndrome
Dysgerminoma OMIM:123500
47,Xyy Syndrome
Varicocele, Azoospermia, Micropenis, Cryptorchidism, Increased serum testosterone level, Oligospe... ORPHA:8
Proteus Syndrome
Diabetes insipidus, Lymphangioma, Meningioma, Lipoma, Neoplasm of the lung, Capillary hemangioma,... ORPHA:744
Skin Creases, Congenital Symmetric Circumferential, 1
Wide intermamillary distance, Microcephaly, Hypoplastic nipples, Hypoplasia of the corpus callosu... OMIM:156610
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum, Cryptorchidism, Micropenis, Supernumerary nipple, Synophrys, Tricusp... OMIM:618929
Gray Platelet Syndrome
Bruising susceptibility, Myelodysplasia, Abnormal bleeding, Abnormality of the menstrual cycle, E... ORPHA:721
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Chordee, Miscarriage, Bilateral cryptorchidism, Premature ovarian insufficiency, ... ORPHA:96179
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Micropenis, Adrenal hypoplasia, Decreased response to growth hormone stimulation ... OMIM:614732
Limb-Mammary Syndrome
Hypoplastic nipples, Hypohidrosis OMIM:603543
Myotonic Dystrophy 2
Frontal balding, Oligospermia, Elevated circulating follicle stimulating hormone level, Diabetes ... OMIM:602668
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Abnormal T-wave, Hypothyroidism, Hyperinsulinemia, Delayed puberty, Mic... ORPHA:3464
Pseudohypoparathyroidism Type 1A
Cerebral calcification, Pseudohypoparathyroidism, Pituitary resistance to thyroid hormone, Obesit... ORPHA:79443
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Central diabetes insipidus, Fair hair, Hypogonadotropic hypogonadism, Rectovaginal fistula, Absen... OMIM:129900
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Long eyelashes, Supernumerary nipple, Sparse eyebrow, Fine hair, Wide inter... ORPHA:261349
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Failure to thrive, Hypergonadotropic hypog... OMIM:606407
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypogonadotropic hypogonadism, Diabetes insipidus, Panhypopituitarism, Hypopituitarism, Anterior ... ORPHA:91350
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasia of the pleura, Abnormal prostate morphology, Weight loss, Soft tissue neoplasm, Uterine... ORPHA:2126
Combined Oxidative Phosphorylation Deficiency 25
Cerebral atrophy, Decreased response to growth hormone stimulation test OMIM:616430
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Thyroid nodule, Adenomato... ORPHA:247806
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patchy alopecia, Micropenis, Absent eyelashes, Supernumerary nipple, Sparse body hair, Nail dystr... OMIM:106260
Sialuria
Generalized hirsutism, Hypoplastic nipples, Low posterior hairline, Synophrys OMIM:269921
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Cerebral atrophy, Abnormal corpus callosum morphology, Decreased body weight, Coa... OMIM:618268
Woods Syndrome
Supernumerary nipple, Frontal hirsutism OMIM:615236
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Esophageal neoplasm, Cutaneous leiomyoma, Papillary renal cell car... ORPHA:523
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Decreased s... ORPHA:79085
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Primary Pigmented Nodular Adrenocortical Disease
Irregular menstruation, Hypertension, Diabetes mellitus, Cutaneous myxoma, Increased circulating ... ORPHA:189439
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Hypovolemia, Increased serum testosterone level, Ovarian cyst, Capillar... ORPHA:64739
Blepharophimosis With Facial And Genital Anomalies And Mental Retardation
Hypoplastic labia majora, Glandular hypospadias, Small for gestational age, Long eyelashes, Super... OMIM:604314
Cowden Syndrome
Abnormal penis morphology, Abnormality of the thyroid gland, Cavernous hemangioma, Meningioma, Li... ORPHA:201
Familial Colorectal Cancer Type X
Neuroblastoma, Gastrointestinal hemorrhage, Uterine neoplasm, Neoplasm of the rectum, Stomach can... ORPHA:440437
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Aromatase Deficiency
Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism, Ovarian cyst OMIM:613546
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Congenital Factor V Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Hematochezia, Spontaneous hematomas, G... ORPHA:326
Incontinentia Pigmenti
Atrophic, patchy alopecia, Coarse hair, Retinal hemorrhage, Supernumerary nipple, Fine hair, Nail... OMIM:308300
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Decreased response to growth hormone stimulation test OMIM:245590
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Pituitary carcinoma, Di... ORPHA:300385
Tetragametic Chimerism
Perineal hypospadias, Ovotestis, Cryptorchidism, Abnormality of the ovary, Micropenis, True herma... ORPHA:199310
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Micropenis, Myocardial infarction, Overweight, Microcephaly, Decreased response to growth hormone... ORPHA:457240
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Decreased body weight, Micropenis, Hypospadias, Microcephaly, Hodgkin lymphoma, Bilateral cryptor... OMIM:618336
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Microcephaly, Failure to thrive, Decreased response to growth hormone stimulation test, Agenesis ... OMIM:615286
Mast Cell Sarcoma
Weight loss, Sarcoma ORPHA:66661
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Miscarriage ORPHA:99927
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, P... ORPHA:231720
Alstrom Syndrome
Dilated cardiomyopathy, Hypothyroidism, Irregular menstruation, Diabetes insipidus, Hyperinsuline... OMIM:203800
Filippi Syndrome
Cryptorchidism, Microcephaly, Supernumerary nipple ORPHA:3255
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Th... ORPHA:848
Alg9-Cdg
Cerebral atrophy, Inverted nipples, Progressive microcephaly, Tricuspid regurgitation, Hypoplasti... ORPHA:79328
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Spars... ORPHA:3044
Tuberous Sclerosis 2
Hypothyroidism, Gingival fibromatosis, Renal cell carcinoma, Subungual fibromas, Hemimegalencepha... OMIM:613254
Boomerang Dysplasia
Cryptorchidism, Decreased response to growth hormone stimulation test ORPHA:1263
Prader-Willi Syndrome
Infertility, Primary amenorrhea, Failure to thrive in infancy, Cryptorchidism, External genital h... OMIM:176270
Cidec-Related Familial Partial Lipodystrophy
Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Pancreatiti... ORPHA:435651
Bainbridge-Ropers Syndrome
Long eyelashes, Cryptorchidism, Thin eyebrow, Supernumerary nipple, Thick eyebrow, Sparse hair, H... OMIM:615485
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hamartoma of tongue, Wide intermamillary distance, Hypoplastic nipples, Neonatal dea... OMIM:269860
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Non-Hodgkin lymphoma, Squamous cell carcinoma, Colon cancer, Breast carcinoma, Neoplasm of the re... ORPHA:454840
Testicular Agenesis
Absent testis, Micropenis, Decreased serum testosterone concentration, Increased circulating gona... ORPHA:325124
Familial Adenomatous Polyposis
Hepatoblastoma, Neoplasm of the gastrointestinal tract, Hypothyroidism, Colon cancer, Abnormality... ORPHA:733
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Amenorrhea, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tub... OMIM:158330
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Bruising susceptibility, Irregular menstruation, Abnormal response to corticotropin releasing hor... ORPHA:189427
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypothyroidism, Hypohidrosis, Agenesis of corpus callosum, Cryptorchidism, Supernumerary nipple, ... ORPHA:1812
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Cryptorchidism, Micropenis, Supernumerary nipple, Obesity, Microcephaly, Hypospadias OMIM:141750
Opsoclonus-Myoclonus Syndrome
Neuroblastoma, Melanoma, Breast carcinoma, Neoplasm, Neoplasm of the lung, Small cell lung carcin... ORPHA:1183
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hypogonadotropic hypogonadism, Micropenis, Decreased serum testosterone concentr... OMIM:241080
Yellow Nail Syndrome
Renal neoplasm, Sarcoma, Biliary tract neoplasm, Neoplasm, Pulmonary arterial hypertension, Neopl... ORPHA:662
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Large for gestational age, Cerebral atrophy, Fine hair, Hypoplastic nipples, Acute lymphoblastic ... OMIM:280000
21Q22.11Q22.12 Microdeletion Syndrome
Agenesis of corpus callosum, Failure to thrive in infancy, Nail dystrophy, Microcephaly, Hypoplas... ORPHA:261323
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Fair hair, Rectovaginal fistula, Hypothyroidism, Dilated cardi... OMIM:243800
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Supravalvular aortic stenosis, Glabellar h... OMIM:618624
Multiple Pterygium Syndrome, Escobar Variant
Cryptorchidism, Hypoplastic nipples, Absence of labia majora, Hypospadias, Exostosis of the exter... OMIM:265000
Bohring-Opitz Syndrome
Agenesis of corpus callosum, Supernumerary nipple, Hyperechogenic pancreas, Wide intermamillary d... OMIM:605039
Congenital Factor X Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhag... ORPHA:328
Monosomy 9Q22.3
Large for gestational age, Cardiac fibroma, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma,... ORPHA:77301
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Congestive heart failure, Pulmonary embolism, Hemangioma, Microcepha... ORPHA:90308
Czeizel-Losonci Syndrome
Hypoplastic nipples, Wide intermamillary distance ORPHA:2437
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Kleefstra Syndrome
Agenesis of corpus callosum, Arrhythmia, Cryptorchidism, Micropenis, Supernumerary nipple, Obesit... ORPHA:261494
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Large for gestational age, Long eyelashes, Thick eyebrow, Supernumerary nipple, Shawl scrotum, Sp... OMIM:213980
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Thyroid adenoma, Fibroma, Papilloma, Adenocarcinoma of the colon, Uterine l... ORPHA:220460
Cowden-Like syndrome
Uterine leiomyoma, Breast carcinoma, Papillary thyroid carcinoma, Endometrial carcinoma OMIM:612359
2Q37 Microdeletion Syndrome
Supernumerary nipple, Sparse eyebrow, Obesity, Highly arched eyebrow, Wide intermamillary distanc... ORPHA:1001
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Anterior hypopitu... OMIM:221750
African Trypanosomiasis
Infertility, Second degree atrioventricular block, Third degree atrioventricular block, Impotence... ORPHA:3385
15Q24 Microdeletion Syndrome
Small for gestational age, Cryptorchidism, Obesity, Broad eyebrow, Microcephaly, Failure to thriv... ORPHA:94065
Cornelia De Lange Syndrome
Generalized hirsutism, Hypoplastic labia majora, Primary amenorrhea, Long eyelashes, Cryptorchidi... ORPHA:199
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Chordee, Cryptorchidism, Supernumerary nipple, Highly arched eyebrow, Synophrys, Hypoplasia of th... OMIM:616728
Bardet-Biedl Syndrome 1
Micropenis, Abnormality of the ovary, Obesity, Vaginal atresia, Truncal obesity, Hypertension, Di... OMIM:209900
Galloway-Mowat Syndrome 6
Microcephaly, Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased bo... OMIM:618347
Gapo Syndrome
Sparse eyebrow, Hypoplastic nipples, Sparse eyelashes, Alopecia, Sparse hair, Breast hypoplasia OMIM:230740
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal exte... ORPHA:95699
Neurofibromatosis Type 1
Multiple lipomas, Plexiform neurofibroma, Neoplasm of the gastrointestinal tract, Leukemia, Sarco... ORPHA:636
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Cryptorchidism, Supernumerary nipple, Highly arched eyebrow, Microcephaly, Cerebra... OMIM:618454
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Precocious puberty with Sertoli cell tumor, Breast carcinoma, Uterine... OMIM:175200
Myasthenic Syndrome, Congenital, 22
Decreased response to growth hormone stimulation test OMIM:616224
Grfoma
Intestinal carcinoid, Palmoplantar hyperhidrosis, Gastrointestinal hemorrhage, Abnormality of the... ORPHA:97261
Primary Lipodystrophy
Menometrorrhagia, Polycystic ovaries, Congestive heart failure, Hypertension, Cardiomyopathy, Typ... ORPHA:90970
Cornelia De Lange Syndrome 1
Hypoplastic labia majora, Long eyelashes, Cryptorchidism, Curly eyelashes, Highly arched eyebrow,... OMIM:122470
Generalized Glucocorticoid Resistance Syndrome
Increased circulating ACTH level, Infertility, Adrenal hyperplasia, Increased urinary cortisol le... ORPHA:786
Juberg-Hayward Syndrome
Microcephaly, Decreased response to growth hormone stimulation test, Highly arched eyebrow OMIM:216100
Large Congenital Melanocytic Nevus
Generalized hirsutism, Sarcoma, Rhabdomyosarcoma, Cutaneous melanoma, Neoplasm, Neoplasm of the skin ORPHA:626
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Aplasia/Hypoplasia of the nipples, Supernumerary nipple, Sparse eyebrow, Bifid uterus, Abnormal r... ORPHA:1521
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Bannayan-Riley-Ruvalcaba syndrome
Multiple lipomas, Hematochezia, Hashimoto thyroiditis, Supernumerary nipple, Long penis, Meningio... OMIM:153480
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Abnormal hair morphology, Decreased response to growth hormone stimulation test, Hypoplasia of pe... OMIM:601427
Ppoma
Cholelithiasis, Intestinal carcinoid, Subcutaneous lipoma, Gastrointestinal hemorrhage, Abnormali... ORPHA:97278
Ring Chromosome 12 Syndrome
Hypothyroidism, Glandular hypospadias, Small for gestational age, Cryptorchidism, Dystrophic toen... ORPHA:1439
Pallister-Hall Syndrome
Hypothalamic hamartoma, Abnormal corpus callosum morphology, Primary adrenal insufficiency, Crypt... ORPHA:672
Parathyroid Carcinoma
Parathyroid carcinoma, Renal hamartoma, Fibroma, Testicular neoplasm, Primary hyperparathyroidism... ORPHA:143
Liposarcoma
Weight loss, Sarcoma ORPHA:69078
Monosomy 22
Schwannoma, Sarcoma, Micropenis, Meningioma, Gonadal neoplasm, Microcephaly, Synophrys, Aplasia o... ORPHA:96123
Septooptic Dysplasia
Agenesis of corpus callosum, Diabetes insipidus, Anterior pituitary hypoplasia, Absent septum pel... OMIM:182230
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Hypertrichosis, Chordee, Cryptorchidism, Supernumerary nipple, Sparse eyebrow, Spar... ORPHA:477993
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Weight loss, Hashimoto thyroiditis, Graves disease, Decreased circulatin... ORPHA:199299
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, ... OMIM:233420
Turner Syndrome Due To Structural X Chromosome Anomalies
Primary amenorrhea, Failure to thrive in infancy, Hashimoto thyroiditis, Hypertension, Premature ... ORPHA:99413
Turner Syndrome
Primary amenorrhea, Failure to thrive in infancy, Hashimoto thyroiditis, Hypertension, Premature ... ORPHA:881
Mosaic Monosomy X
Primary amenorrhea, Failure to thrive in infancy, Hashimoto thyroiditis, Hypertension, Premature ... ORPHA:99228
Monosomy X
Primary amenorrhea, Failure to thrive in infancy, Hashimoto thyroiditis, Hypertension, Premature ... ORPHA:99226
Postaxial Acrofacial Dysostosis
Supernumerary nipple ORPHA:246
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Small for gestational age, Cryptorchidism, Congenital hypothyroidism, Ele... OMIM:101800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Colpocephaly, Abnormality of the basal ganglia, Dilated thir... ORPHA:397715
Trisomy 12P
Thick eyebrow, Supernumerary nipple ORPHA:1699
Myotubular Myopathy With Abnormal Genital Development
Unilateral cryptorchidism, Penile hypospadias, Glandular hypospadias, Micropenis, Ambiguous genit... OMIM:300219
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large for gestational age, Hepatoblastoma, Inverted nipples, Frontal hirsutism, Cryptorchidism, H... ORPHA:96334
Cardiofaciocutaneous Syndrome 4
Sparse hair, Pulmonic stenosis, Absent eyebrow, Hemangioma, Sparse eyelashes, Thin corpus callosu... OMIM:615280
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypopituitarism, E... OMIM:615849
Aarskog-Scott Syndrome
Widow's peak, Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decr... OMIM:305400
Adams-Oliver Syndrome 1
Supernumerary nipple, Alopecia, Pulmonic stenosis, Microcephaly, Pulmonary arterial hypertension,... OMIM:100300
Webb-Dattani Syndrome
Hypoplasia of the corpus callosum, Diabetes insipidus, Cryptorchidism, Microcephaly, Pituitary hy... OMIM:615926
Williams-Beuren Region Duplication Syndrome
Long eyelashes, Cryptorchidism, Horizontal eyebrow, Hypoplasia of the corpus callosum, Decreased ... OMIM:609757
Multiple Endocrine Neoplasia, Type Iv
Renal angiomyolipoma, Hypothyroidism, Carcinoma, Hashimoto thyroiditis, Parathyroid adenoma, Panc... OMIM:610755
Acromesomelic Dysplasia, Grebe Type
Death in infancy, Sarcoma ORPHA:2098
Somatostatinoma
Subcutaneous lipoma, Gastrointestinal hemorrhage, Medullary thyroid carcinoma, Abnormality of the... ORPHA:97283
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Micropenis, Supernumerary nipple, Obesity, Highly arched eyebrow, Microcephaly, H... OMIM:618653
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Uterine leiomyosarcoma, Uterine leiomyoma, Cu... OMIM:150800
Milroy Disease
Angiosarcoma, Hydrocele testis, Neoplasm of the skin ORPHA:79452
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased circulating androgen concentration, Decreased circula... ORPHA:293978
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Char Syndrome
Supernumerary nipple ORPHA:46627
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Supernumerary nipple OMIM:614376
Retinoblastoma
Ewing sarcoma, Subretinal pigment epithelium hemorrhage, Leukemia, Rhabdomyosarcoma, Melanoma, Ly... ORPHA:790
Hyperparathyroidism-Jaw Tumor Syndrome
Renal hamartoma, Fibroma, Testicular neoplasm, Parathyroid adenoma, Primary hyperparathyroidism, ... ORPHA:99880
Vipoma
Subcutaneous lipoma, Abnormality of the thyroid gland, Parathyroid adenoma, Neoplasm of the liver... ORPHA:97282
Ritscher-Schinzel Syndrome 1
Adrenal hypoplasia, Pulmonic stenosis, Decreased response to growth hormone stimulation test, Aor... OMIM:220210
Intellectual Disability-Strabismus Syndrome
Hypothyroidism, Hypohidrosis, Agenesis of corpus callosum, Cryptorchidism, Micropenis, Highly arc... ORPHA:363528
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Cavum septum pellucidum, Supernumerary nipple, Dilation of l... ORPHA:457279
16P12.1P12.3 Triplication Syndrome
Thick eyebrow, Failure to thrive, Bilateral cryptorchidism, Tachycardia, Decreased response to gr... ORPHA:485405
Pitt-Hopkins Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Supernumerary nipple, Micropenis, Smal... ORPHA:2896
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Anterior pituitary hypoplasia, Decreased serum insulin-like growth factor 1, Hypoplasia of the co... ORPHA:67045
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Cerebral atrophy, Hypothyroidism, Panhypopituitarism, Hippocampal atrophy, Microcephaly, Failure ... OMIM:618922
Mastocytosis
Chronic leukemia, Gastrointestinal hemorrhage, Sarcoma, Arrhythmia, Hypotension, Telangiectasia o... ORPHA:98292
Paraneoplastic Pemphigus
Sarcoma, B-cell lymphoma, Thymoma ORPHA:63455
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Micropenis, Microcephaly, Hypoplasia of the corpus callosum, Decreased response t... OMIM:241410
Nelson Syndrome
Pituitary corticotropic cell adenoma, Adrenocorticotropic hormone excess, Pituitary carcinoma, Di... ORPHA:199244
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Vertebral Hypersegmentation And Orofacial Anomalies
Widow's peak, Supernumerary nipple OMIM:619122
Wiskott-Aldrich Syndrome
Lymphoma, Hematemesis, Hypoplasia of the thymus, Intracranial hemorrhage, Bruising susceptibility... ORPHA:906
Familial Adenomatous Polyposis 1
Multiple lipomas, Hepatoblastoma, Papillary thyroid carcinoma, Adrenocortical carcinoma, Colon ca... OMIM:175100
Incontinentia Pigmenti
Retinal hemorrhage, Congestive heart failure, Abnormal hair morphology, Supernumerary nipple, Dys... ORPHA:464
Desmoid Tumor
Gastrointestinal hemorrhage, Fibroma, Desmoid tumors, Neoplasm of the skin, Intestinal polyposis ORPHA:873
Postaxial Acrofacial Dysostosis
Cryptorchidism, Supernumerary nipple, Micropenis OMIM:263750
Bannayan-Riley-Ruvalcaba Syndrome
Visceral angiomatosis, Lymphoma, Neoplasm of the breast, Neoplasm of the adrenal cortex, Uterine ... ORPHA:109
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Interstitial Cystitis
Abnormal vagina morphology, Abnormal labia morphology, Dyspareunia, Abnormality of the urethra, A... ORPHA:37202
Nmda Receptor Encephalitis
Orthostatic hypotension, Neuroblastoma, Neoplasm of the breast, Neoplasm of the lung, Hodgkin lym... ORPHA:217253
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Abnormality of the female genitalia, Esophageal neoplasm, Fibroma, Vulvar neoplasm, Uterine neopl... ORPHA:1018
Coffin-Siris Syndrome 9
Delayed puberty, Long eyelashes, Sparse scalp hair, Highly arched eyebrow, Microcephaly, Hypertri... OMIM:615866
Carpenter Syndrome 2
Cryptorchidism, Micropenis, Supernumerary nipple, Shawl scrotum, Sparse eyebrow, Obesity, Highly ... OMIM:614976
Cohen Syndrome
Delayed puberty, Small for gestational age, Thick eyebrow, Microcephaly, Thick corpus callosum, C... OMIM:216550
Simpson-Golabi-Behmel Syndrome
Hepatoblastoma, Neuroblastoma, Agenesis of corpus callosum, Cryptorchidism, Supernumerary nipple,... ORPHA:373
Deeah Syndrome