CUTIS LAXA, AUTOSOMAL DOMINANT 1

General Information (adopted from Orphanet):

Synonyms, Signs: ADCL1
Number of Symptoms 12
OrphanetNr:
OMIM Id: 123700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000023) Inguinal hernia 181 / 7739
2
(HPO:0001582) Redundant skin 51 / 7739
3
(HPO:0000973) Cutis laxa 43 / 7739
4
(HPO:0001659) Aortic regurgitation 36 / 7739
5
(HPO:0001653) Mitral regurgitation 64 / 7739
6
(HPO:0002097) Emphysema 40 / 7739
7
(OMIM) No skin hyperelasticity 2 / 7739
8
(OMIM) Skin lacks elastic recoil 1 / 7739
9
(MedDRA:10070939) Wound healing normal 5 / 7739
10
(OMIM) Excessive skin folds 3 / 7739
11
(OMIM) Premature aged appearance 1 / 7739
12
(OMIM) Sparse, fragmented elastic fibers 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Sestak (1962) reported a father and daughter with cutis laxa. Goltz (1966) studied a family with affected persons in successive generations. Balboni (1963) described a child with typical cutis laxa and multiple vascular anomalies including coarctation of the ...
Molecular genetics OMIM Zhang et al. (1997, 1999) and Tassabehji et al. (1998) independently described patients with autosomal dominant cutis laxa and mutations in the elastin gene (see 130160.0008-130160.0010).

In the mother and daughter with cutis laxa and severe ...