CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA

General Information (adopted from Orphanet):

Synonyms, Signs: ARCL1A
CUTIS LAXA, AUTOSOMAL RECESSIVE
ARCL1
Number of Symptoms 21
OrphanetNr:
OMIM Id: 219100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000015) Bladder diverticulum 15 / 7739
2
(HPO:0000767) Pectus excavatum 244 / 7739
3
(HPO:0001388) Joint laxity 117 / 7739
4
(HPO:0001562) Oligohydramnios 75 / 7739
5
(HPO:0001537) Umbilical hernia 206 / 7739
6
(HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
7
(HPO:0000023) Inguinal hernia 181 / 7739
8
(HPO:0000973) Cutis laxa 43 / 7739
9
(HPO:0001582) Redundant skin 51 / 7739
10
(HPO:0002631) Ascending aortic aneurysm 9 / 7739
11
(HPO:0004948) Vascular tortuosity 5 / 7739
12
(HPO:0004381) Supravalvular aortic stenosis 6 / 7739
13
(HPO:0002205) Recurrent respiratory infections 254 / 7739
14
(HPO:0002097) Emphysema 40 / 7739
15
(OMIM) Congenital fractures 1 / 7739
16
(OMIM) Excessive skin folds 3 / 7739
17
(OMIM) Underdeveloped elastic fibers in dermis 1 / 7739
18
(MedDRA:10070939) Wound healing normal 5 / 7739
19
(OMIM) Sagging cheeks 2 / 7739
20
(OMIM) Increased vascularization, reduced collagen bundle size 1 / 7739
21
(OMIM) No skin hyperelasticity 2 / 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 Goltz et al. (1965) described affected brothers and suggested recessive inheritance because of other reported instances of affected sibs as well as parental consanguinity. One child had multiple diverticula (esophagus, duodenum, ileum, bladder). The other had pulmonary emphysema ...
Molecular genetics OMIM Loeys et al. (2002) studied a large consanguineous Turkish family, originally described by Van Maldergem et al. (1988), in which 4 patients were affected by autosomal recessive cutis laxa type I. An affected infant from this family manifested ...