Cutis laxa, autosomal dominant 2

Preferred Label : Cutis laxa, autosomal dominant 2;

Symbol : ADCL2;

CISMeF acronym : ADCL2;

Type : Phenotype, molecular basis known;

Description : Cutis laxa is a connective tissue disorder characterized by loose skin and variable internal organ involvement resulting from a paucity of elastic fibers (summary by Markova et al., 2003). For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ADCL1 (123700).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibulin 5 gene (FBLN5, 604580.0002);

Prefixed ID : #614434;

Details

Origin ID

614434;

UMLS CUI

C3280794;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant cutis laxa [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant cutis laxa 2 [DO Concept]
DO Cross reference
- autosomal dominant cutis laxa 2 [DO Concept]
Genes related to phenotype
- Fibulin 5 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cutis laxa [HPO term]
- Mitral regurgitation [HPO term]
- Premature skin wrinkling [HPO term]
- Scoliosis [HPO term]
ORDO concept(s)
- Autosomal dominant cutis laxa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant cutis laxa 2 [DO Concept]

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