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Partial chromosome Y deletion
2 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
1 OMIM reference -
1 associated gene
No signs/symptoms info
Partial chromosome Y deletion
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit

DAZ1
(UniProt - OMIM)
 WWOX
(UniProt - OMIM)
DAZ2
(UniProt - OMIM)
DAZ3
(UniProt - OMIM)
DAZ4
(UniProt - OMIM)
DDX3Y
(UniProt - OMIM)
RBMY1A1
(UniProt - OMIM)
TSPY1
(UniProt - OMIM)
USP9Y
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
DDX3Y
(0.63)
WWOX


Citations in the biomedical literature:


Partial chromosome Y deletion
DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y RBMY1A1
TSPY1 USP9Y
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
WWOX



Partial chromosome Y deletion
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit

Synonym(s):
- Male sterility due to chromosome Y deletion
Synonym(s):
- Autosomal recessive spinocerebellar ataxia-12
- SCAR12
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare infertility
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: normal
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:
2 OMIM references -
1 MeSH reference: C536297
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.