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Cerebellar ataxia-deafness-narcolepsy syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
46,XY partial gonadal dysgenesis
5 OMIM references -
7 associated genes
9 signs/symptoms
Cerebellar ataxia-deafness-narcolepsy syndrome
46,XY partial gonadal dysgenesis

DNMT1
(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)
DNMT1
(0.63)
WT1


Citations in the biomedical literature:


Cerebellar ataxia-deafness-narcolepsy syndrome
DNMT1
46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX



Cerebellar ataxia-deafness-narcolepsy syndrome
46,XY partial gonadal dysgenesis

Synonym(s):
- ADCA-DN
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic 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):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
External references:
1 OMIM reference -
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)


Cerebellar ataxia-deafness-narcolepsy syndrome

(no data available)