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2 OMIM references -
3 associated genes
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
5 signs/symptoms
Familial infantile bilateral striatal necrosis
Dyschromatosis symmetrica hereditaria

ADAR ADAR
MT-ATP6
NUP62


COMMON
GENES
ADAR



Citations in the biomedical literature:


Familial infantile bilateral striatal necrosis
ADAR MT-ATP6 NUP62
Dyschromatosis symmetrica hereditaria



Familial infantile bilateral striatal necrosis
Dyschromatosis symmetrica hereditaria

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

Synonym(s):
- Acropigmentation of Dohi

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -

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:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535729

Dyschromatosis symmetrica hereditaria

Very frequent
- Irregular / in bands / reticular skin hyperpigmentation
- Irregular / patchy skin hypopigmentation
- Macules

Frequent
- Autosomal recessive inheritance
- Dystonia / torticollis / writer's cramp / blepharospasms



Familial infantile bilateral striatal necrosis

(no data available)