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2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Familial infantile bilateral striatal necrosis
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1

ADAR MAGEL2
MT-ATP6 NDN
NUP62 OCA2
SNORD115@
SNORD116@
SNRPN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ADAR
(0.63)
SNRPN



Citations in the biomedical literature:


Familial infantile bilateral striatal necrosis
ADAR MT-ATP6 NUP62
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
MAGEL2 NDN OCA2 SNORD115@ SNORD116@ SNRPN



Familial infantile bilateral striatal necrosis
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1

Synonym(s):
- Familial IBSN
- Familial infantile striatonigral degeneration
- Familial infantile striatonigral necrosis

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
2 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.