Cutis laxa, autosomal recessive, type ia

Preferred Label : Cutis laxa, autosomal recessive, type ia;

Symbol : ARCL1A;

CISMeF acronym : ARCL1A; ARCL1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ARCL1; Cutis laxa, autosomal recessive;

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). The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa (ARCL1) is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon. Diminution of elastic fibers throughout the dermis and abnormal elastin components by electron microscopy are pathognomonic (summary by Morava et al., 2009). Classification of autosomal recessive cutis laxa is further divided into type II (ARCL2), associated with bone dystrophy, joint laxity, and developmental delay; and type III (ARCL3), or de Barsy syndrome, which presents very severe symptoms, with ocular involvement and mental retardation (summary by Davidson and Giro, 2002). For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see 123700. - Genetic Heterogeneity of Autosomal Recessive Cutis Laxa;

Inheritance : Autosomal recessive;

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

Prefixed ID : #219100;

Details

Origin ID

219100;

UMLS CUI

C5848058;

Currated CISMeF NLP mapping
- autosomal recessive cutis laxa type IA [DO Concept]
DO Cross reference
- autosomal recessive cutis laxa type IA [DO Concept]
Genes related to phenotype
- Fibulin 5 [OMIM gene]
HPO term(s)
- Abnormality of the face [HPO term]
- Arachnodactyly [HPO term]
- Ascending tubular aorta aneurysm [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bladder diverticulum [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Emphysema [HPO term]
- Heterogeneous [HPO term]
- Histological abnormality of the skin [HPO term]
- Inguinal hernia [HPO term]
- Joint laxity [HPO term]
- Microcephaly [HPO term]
- Oligohydramnios [HPO term]
- Overgrowth [HPO term]
- Pectus excavatum [HPO term]
- Recurrent respiratory infections [HPO term]
- Redundant skin [HPO term]
- Supravalvular aortic stenosis [HPO term]
- Umbilical hernia [HPO term]
- Vascular tortuosity [HPO term]
Not associated HPO term(s)
- Hyperextensible skin [HPO term]
- Poor wound healing [HPO term]
ORDO concept(s)
- Autosomal recessive cutis laxa type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal recessive cutis laxa type I [DO Concept]
- autosomal recessive cutis laxa type I [Disease (Nov.)]
- autosomal recessive cutis laxa type IA [DO Concept]
- cutis laxa, autosomal recessive, type I [MeSH Supplementary Concept]
- cutis laxa, autosomal recessive, type I [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal recessive cutis laxa [ICD-11 More detail]
- Autosomal recessive cutis laxa type 1 [ORDO Disease]
- Cutis Laxa, Autosomal Recessive [MeSH concept]
- Cutis laxa, autosomal recessive (disorder) [SNOMED CT concept]
- autosomal recessive cutis laxa type I [Disease (Nov.)]
- autosomal recessive cutis laxa type I [DO Concept]
- cutis laxa, autosomal recessive [SNOMED Notion]
- cutis laxa, autosomal recessive, type I [MeSH Supplementary Concept]
- cutis laxa, autosomal recessive, type I [MeSH concept]

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