Cutis laxa, autosomal dominant 1

Preferred Label : Cutis laxa, autosomal dominant 1;

Symbol : ADCL1;

CISMeF acronym : ADCL1;

Type : Phenotype, molecular basis known;

Description : Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classical Ehlers-Danlos syndrome (see 130000). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002). Autosomal dominant congenital cutis laxa (ADCL) is genetically heterogeneous and shows clinical variability. The characteristic loose skin may be accompanied by gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema (summary by Graul-Neumann et al., 2008). Loose, inelastic skin is a clinical feature of many disorders, e.g., geroderma osteodysplasticum (GO; 231070) and Costello syndrome (218040). For a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). - Genetic Heterogeneity of Autosomal Dominant Cutis Laxa In addition to ADCL1, the form of autosomal dominant cutis laxa caused by mutation in the elastin gene, ADCL2 (614434) is caused by mutation in the fibulin-5 gene (FBLN5; 604580) on chromosome 14q32.1.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibulin 5 gene (FBLN5, 604580.0001); Caused by mutation in the elastin gene (ELN, 130160.0008);

Prefixed ID : #123700;

Details

Origin ID

123700;

UMLS CUI

C3276539;

Currated CISMeF NLP mapping
- autosomal dominant cutis laxa 1 [DO Concept]
DO Cross reference
- autosomal dominant cutis laxa 1 [DO Concept]
Genes related to phenotype
- Elastin [OMIM gene]
HPO term(s)
- Abnormality of the face [HPO term]
- Aortic regurgitation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Emphysema [HPO term]
- Heterogeneous [HPO term]
- Histological abnormality of the skin [HPO term]
- Inguinal hernia [HPO term]
- Mitral regurgitation [HPO term]
- Prematurely aged appearance [HPO term]
- Progeroid facial appearance [HPO term]
- Redundant skin [HPO term]
Not associated HPO term(s)
- Hyperextensible skin [HPO term]
- Poor wound healing [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 1 [DO Concept]
Validated automatic mappings to NTBT
- Autosomal dominant cutis laxa [ICD-11 More detail]
- Autosomal dominant cutis laxa [ORDO Disease]
- Cutis laxa, autosomal dominant (disorder) [SNOMED CT concept]
- autosomal dominant cutis laxa [DO Concept]
- autosomal dominant cutis laxa [Disease (Nov.)]
- cutis laxa, autosomal dominant [SNOMED Notion]
- cutis laxa, autosomal dominant [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients