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46,XY complete gonadal dysgenesis
7 OMIM references -
8 associated genes
135 connected diseases
5 signs/symptoms
Disease Type of connection
46,XY partial gonadal dysgenesis
46,XX gonadal dysgenesis
Cytomegalic congenital adrenal hypoplasia
46,XX ovotesticular disorder of sex development
46,XX testicular disorder of sex development
45,X / 46,XY mixed gonadal dysgenesis
46,XY gonadal dysgenesis - motor and sensory neuropathy
Testicular regression syndrome
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Giant cell glioblastoma
Cardiofaciocutaneous syndrome
LEOPARD syndrome
Noonan syndrome
Pilocytic astrocytoma
Autosomal dominant nonsyndromic intellectual deficit
Mitochondrial trifunctional protein deficiency
Distal 22q11.2 microdeletion syndrome
Acute promyelocytic leukemia
Familial pancreatic carcinoma
Hereditary breast and ovarian cancer syndrome
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Estrogen resistance syndrome
Isolated anophthalmia - microphthalmia
Septo-optic dysplasia
17p13.3 microduplication syndrome
Desmoid tumor
Distal 17p13.3 microdeletion syndrome
Hepatocellular carcinoma, childhood-onset
Miller-Dieker syndrome
Campomelic dysplasia
Brachydactyly - elbow wrist dysplasia
Familial clubfoot due to 5q31 microdeletion
Familial clubfoot due to PITX1 point mutation
Hairy cell leukemia
Hashimoto-Pritzker syndrome
8p23.1 microdeletion syndrome
Atrial septal defect, ostium secundum type
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Familial atrial fibrillation
Partial atrioventricular canal
Single ventricular septal defect
Tetralogy of Fallot
Acute fatty liver of pregnancy
Acute infantile liver failure-multisystemic involvement syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal thrombocytopenia with normal platelets
Baraitser-Winter syndrome
Blackfan-Diamond anemia
Catecholaminergic polymorphic ventricular tachycardia
Chronic intestinal pseudoobstruction
Congenital fibrosis of extraocular muscles
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Hyperinsulinism-hyperammonemia syndrome
Hypomyelination with atrophy of basal ganglia and cerebellum
Lissencephaly due to TUBA1A mutation
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Moyamoya disease
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Perlman syndrome
Polymicrogyria due to TUBB2B mutation
Primary dystonia, DYT4 type
Pulverulent cataract
Severe X-linked mitochondrial encephalomyopathy
Terminal osseous dysplasia - pigmentary defects
Williams syndrome
X-linked Charcot-Marie-Tooth disease type 4
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Spondylocarpotarsal synostosis
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
Adrenocortical carcinoma
Autosomal agammaglobulinemia
Autosomal dominant macrothrombocytopenia
Autosomal recessive primary microcephaly
B-cell chronic lymphocytic leukemia
Burkitt lymphoma
Essential thrombocythemia
Familial partial lipodystrophy associated with PPARG mutations
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Inflammatory myofibroblastic tumor
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Primary peritoneal carcinoma
Richieri Costa-Pereira syndrome
SHORT syndrome
Commissural facial cleft
Congenital isolated ACTH deficiency
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Common variable immunodeficiency
Alobar holoprosencephaly
Gorlin syndrome
Hypohidrotic ectodermal dysplasia with immunodeficiency
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Monosomy 9q22.3
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Familial isolated dilated cardiomyopathy
Glucocorticoid resistance
- 46,XY CGD
- 46,XY pure gonadal dysgenesis
- Swyer syndrome

Classification (Orphanet):
- Rare cardiac disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare skin disease
- Rare urogenital disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
7 OMIM references -
No MeSH references

Very frequent
- Abnormal / polycystic ovaries
- Late puberty / hypogonadism / hypogenitalism
- Male pseudohermaphrodism / lack of virilisation
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- X-linked recessive inheritance