Cutis Laxa, Autosomal Recessive, Type Ia (ARCL1A)

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Disease Ontology 12 DOID:0070135 OMIM 56 219100 OMIM Phenotypic Series 56 PS123700 MeSH 43 D003483

ICD10 32 Q82.8 MedGen 41 C0268351 CN033664 SNOMED-CT via HPO 68 118930001 17190001 197866008 201093004 253645007 258211005 268185002 271611007 27911000 298203008 32003007 391987005 396232000 396347007 398206004 398302004 59566000 62250003 87433001 more UMLS 71 C0268351

OMIM : ⁵⁶ 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. (219100)

MalaCards based summary : Cutis Laxa, Autosomal Recessive, Type Ia, also known as autosomal recessive cutis laxa type ia, is related to cutis laxa, autosomal recessive, type iiia and cutis laxa, autosomal recessive, type iiib. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Ia is FBLN5 (Fibulin 5), and among its related pathways/superpathways are Degradation of the extracellular matrix and Amino Acid metabolism. Affiliated tissues include skin, lung and bone, and related phenotypes are pectus excavatum and inguinal hernia

Disease Ontology : ¹² An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.

UniProtKB/Swiss-Prot : ⁷³ Cutis laxa, autosomal recessive, 1A: A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa 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.

Clinical features from OMIM:

219100

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