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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
CADDS
Chorioretinopathy, Birdshot type

ABCD1 HLA-A
BCAP31


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BCAP31
(0.85)
HLA-A



Citations in the biomedical literature:


CADDS
ABCD1 BCAP31
Chorioretinopathy, Birdshot type
HLA-A



CADDS
Chorioretinopathy, Birdshot type

Synonym(s):
- Contiguous ABCD1 DXS1357E deletion syndrome
- Zellweger-like contiguous gene deletion syndrome

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare eye disease

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: normal
Type of inheritance: unknown

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537630

No signs/symptoms info available.