CUTIS LAXA, AUTOSOMAL DOMINANT 2

General Information (adopted from Orphanet):

Synonyms, Signs: ADCL2
Number of Symptoms 5
OrphanetNr:
OMIM Id: 614434
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0002650) Scoliosis 705 / 7739
2
 (HPO:0000973) Cutis laxa 43 / 7739
3
 (HPO:0100678) Premature skin wrinkling 25 / 7739
4
 (HPO:0001653) Mitral regurgitation 64 / 7739
5
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Markova et al. (2003) described an African American female patient with autosomal dominant cutis laxa. Extensive folding and redundant skin on the abdomen and arms were present shortly after birth. No signs of internal organ involvement were noted. ...
Molecular genetics OMIM In a patient with autosomal dominant cutis laxa, Markova et al. (2003) identified a 483-bp duplication in the FBLN5 gene (604580.0002). A dominant-negative effect of the mutation was proposed.