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Autosomal recessive cutis laxa type 2, classic type
1 OMIM reference -
1 associated gene
4 connected diseases
No signs/symptoms info
Disease Type of connection
Wrinkly skin syndrome
Cowden syndrome
Proteus syndrome
Cardiomyopathy - hypotonia - lactic acidosis
Synonym(s):
- ARCL2, Debré type
- ARCL2, classic type
- Autosomal recessive cutis laxa type 2, Debré type
Classification (Orphanet):
- Inborn errors of metabolism
- Rare abdominal surgical disease
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
- Rare surgical thoracic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ATP6V0A2 Q9Y487611716
No signs/symptoms info available.