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Distal 17p13.3 microdeletion syndrome
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
46,XY partial gonadal dysgenesis
5 OMIM references -
7 associated genes
9 signs/symptoms
Distal 17p13.3 microdeletion syndrome
46,XY partial gonadal dysgenesis

YWHAE
(UniProt - OMIM)
 GATA4
(UniProt - OMIM)
MAP3K1
(UniProt - OMIM)
NR0B1
(UniProt - OMIM)
NR5A1
(UniProt - OMIM)
SRY
(UniProt - OMIM)
WT1
(UniProt - OMIM)
WWOX
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
YWHAE
(0.89)
MAP3K1


Citations in the biomedical literature:


Distal 17p13.3 microdeletion syndrome
YWHAE
46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX



Distal 17p13.3 microdeletion syndrome
46,XY partial gonadal dysgenesis

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3
Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references
External references:
5 OMIM references -
No MeSH references
46,XY partial gonadal dysgenesis

Very frequent
- Ambiguous genitalia
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Hypospadias / epispadias / bent penis
- Micropenis / small penis / agenesis
- Mixed gonadal dysgenesis
- Testis anomalies

Occasional
- Cortico-adrenal hypoplasia / insufficiency
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)


Distal 17p13.3 microdeletion syndrome

(no data available)