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7 OMIM references -
8 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 1
6 OMIM references -
7 associated genes
No signs/symptoms info
46,XY complete gonadal dysgenesis
B-cell chronic lymphocytic leukemia

CBX2 ARL11
DHH ATM
DMRT1 CCND1
DMRT2 IGHG1
MAP3K1 IGHV3-21
()
NR0B1 POT1
NR5A1 TP53
SRY


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAP3K1
(0.63)
TP53



Citations in the biomedical literature:


46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
B-cell chronic lymphocytic leukemia
ARL11 ATM CCND1 IGHG1 IGHV3-21 POT1
TP53



46,XY complete gonadal dysgenesis
B-cell chronic lymphocytic leukemia

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

Synonym(s):
- B-CLL
- B-cell chronic lymphoid leukemia
- Lymphoplasmacytic leukemia
- Lymphoplasmacytoid immunocytoma
- Small lymphocytic lymphoma

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 hematologic disease
- Rare oncologic disease

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

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: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic

External references:
7 OMIM references -
No MeSH references
External references:
6 OMIM references -
1 MeSH reference: D015451

46,XY complete gonadal dysgenesis

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



B-cell chronic lymphocytic leukemia

(no data available)