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3 OMIM references -
3 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 1
2 associated genes
No signs/symptoms info
46,XX testicular disorder of sex development
Acute myeloid leukemia with t(8;16)(p11;p13) translocation

SOX3 CREBBP
SOX9 KAT6A
SRY


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SOX9
(0.55)
CREBBP



Citations in the biomedical literature:


46,XX testicular disorder of sex development
SOX3 SOX9 SRY
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
CREBBP KAT6A



46,XX testicular disorder of sex development
Acute myeloid leukemia with t(8;16)(p11;p13) translocation

Synonym(s):
- 46,XX testicular DSD
- De la Chapelle syndrome
- XX, male syndrome

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
- Rare urogenital disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease

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

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

External references:
3 OMIM references -
1 MeSH reference: D058531
External references:
No OMIM references
No MeSH references

46,XX testicular disorder of sex development

Very frequent
- Abnormal / polycystic ovaries
- Ambiguous genitalia
- Late puberty / hypogonadism / hypogenitalism
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- X-linked recessive inheritance



Acute myeloid leukemia with t(8;16)(p11;p13) translocation

(no data available)