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7 OMIM references -
8 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 1
11 OMIM references -
11 associated genes
27 signs/symptoms
46,XY complete gonadal dysgenesis
Common variable immunodeficiency

CBX2 CD19
DHH CD81
DMRT1 CR2
DMRT2 ICOS
MAP3K1 LRBA
NR0B1 MS4A1
NR5A1 NFKB2
SRY PRKCD
TNFRSF13B
TNFRSF13C
TNFSF12


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NR5A1
(0.55)
NFKB2



Citations in the biomedical literature:


46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
Common variable immunodeficiency
CD19 CD81 CR2 ICOS LRBA MS4A1
NFKB2 PRKCD TNFRSF13B TNFRSF13C TNFSF12



46,XY complete gonadal dysgenesis
Common variable immunodeficiency

Synonym(s):
- 46,XY CGD
- 46,XY pure gonadal dysgenesis
- Swyer syndrome

Synonym(s):
- CVID
- Idiopathic immunoglobulin deficiency
- Primary antibody deficiency
- Primary hypogammaglobulinemia

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 (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare oncologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
7 OMIM references -
No MeSH references
External references:
11 OMIM references -
1 MeSH reference: D017074

46,XY complete gonadal dysgenesis
Common variable immunodeficiency

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



Very frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Autosomal dominant inheritance
- Chronic / relapsing otitis
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Leukopenia / hypoleukocytosis
- Lymphopenia
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Repeat respiratory infections
- Thrombocytopenia / thrombopenia

Frequent
- Abnormal hepatic enzymes / transaminases
- Autosomal recessive inheritance
- Bronchial dilation / dilatation / bronchiectasia
- Hemolytic anemia
- Lymphadenopathy / polyadenopathies
- Malabsorption / chronic diarrhea / steatorrhea
- Purpura / petichiae
- Splenomegaly
- Structural anomalies of the liver and the biliary tract

Occasional
- Articular / joint pain / arthralgia
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Emphysema
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gastrointestinal stromal tumor
- Interstitial / restrictive pneumopathy / restrictive respiratory syndrome
- Lymphoma
- Vascularitis / vasculitides / arteritis