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7 OMIM references -
8 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
46,XY complete gonadal dysgenesis
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

CBX2 RPS14
DHH
DMRT1
DMRT2
MAP3K1
NR0B1
NR5A1
SRY


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAP3K1
(0.72)
RPS14



Citations in the biomedical literature:


46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
RPS14



46,XY complete gonadal dysgenesis
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

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

Synonym(s):
- 5q- 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 (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:
(no data available)

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

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



Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

(no data available)