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46,XY partial gonadal dysgenesis
5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
Syndromic multisystem autoimmune disease due to Itch deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
46,XY partial gonadal dysgenesis
Syndromic multisystem autoimmune disease due to Itch deficiency

GATA4
(UniProt - OMIM)
 ITCH
(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)
WWOX
(0.63)
ITCH


Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Syndromic multisystem autoimmune disease due to Itch deficiency
ITCH



46,XY partial gonadal dysgenesis
Syndromic multisystem autoimmune disease due to Itch deficiency

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
- Rare immune disease
- Rare neurologic disease
- Rare respiratory disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
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)


Syndromic multisystem autoimmune disease due to Itch deficiency

(no data available)