01
AAGAB
No data
Diseases
Palmoplantar Keratoderma, Punctate Type Ia
palmoplantar keratoderma, punctate type ia
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 3
Basic Information
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Core Information
- Disease Name
- Palmoplantar Keratoderma, Punctate Type Ia
- Standard Disease Name
- palmoplantar keratoderma, punctate type ia
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- C536161
- OMIM ID
- 148600
- UMLS ID
- C1835662
- HPO ID
- No data
Description and Extensions
- Description
- SNOMEDCT_US_2016_09_01:A very rare hereditary skin disease with manifestation of irregularly distributed epidermal hyperkeratosis of the palms and soles. Reported in 35 families worldwide to date. The lesions usually start to develop in early adolescence but can also present later in life. Mutations in the AAGAB gene (15q22.33-q23) have recently been identified as one of the causes. Mutations in the COL14A1 gene (8q23) have also been identified as causal in some cases in Asia that seem to have a similar phenotype
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