Peeling skin syndrome 4

Preferred Label : Peeling skin syndrome 4;

Symbol : PSS4;

CISMeF acronym : AREI; PSS4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ichthyosis bullosa of siemens-like; Ichthyosis, exfoliative, autosomal recessive; AREI;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cystatin A gene (CSTA, 184600.0001);

Prefixed ID : #607936;

Details

Origin ID

607936;

UMLS CUI

C4225407;

Currated CISMeF NLP mapping
- Autosomal recessive epidermolytic ichthyosis [ORDO Disease]
- exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like [MeSH Supplementary Concept]
Genes related to phenotype
- Cystatin a [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Epidermal acanthosis [HPO term]
- Hyperkeratosis [HPO term]
- Ichthyosis [HPO term]
- Lichenification [HPO term]
- Nail dystrophy [HPO term]
- Orthokeratosis [HPO term]
- Palmoplantar keratoderma [HPO term]
- Scaling skin [HPO term]
ORDO concept(s)
- Exfoliative ichthyosis [ORDO Disease]
See also inter- (CISMeF)
- Autosomal recessive exfoliative ichthyosis (disorder) [SNOMED CT concept]
- CSTA wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Exfoliative ichthyosis [ORDO Disease]

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