Autosomal recessive cutis laxa type 2

MedGen UID:: 609467
•Concept ID:: C0432337
•: Congenital Abnormality

Synonyms:	ARCL2; autosomal recessive cutis laxa type 2; Cutis laxa with joint laxity and developmental delay; cutis laxa with joint laxity and developmental delay; Cutis laxa, recessive, type II
SNOMED CT:	Cutis laxa, recessive, type II (254223007)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0019573
Orphanet:	ORPHA90350

Definition

A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic autosomal recessive cutis laxa type 2 (ARCL2, Debré type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS). [from ORDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAutosomal recessive cutis laxa type 2

Autosomal recessive cutis laxa type 2
- Autosomal recessive cutis laxa type 2B
- Cutis laxa with osteodystrophy
  - Autosomal recessive cutis laxa type 2, classic type
  - Wrinkly skin syndrome

Follow this link to review classifications for Autosomal recessive cutis laxa type 2 in Orphanet.

Recent clinical studies

Etiology

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.

Vogt G, El Choubassi N, Herczegfalvi Á, Kölbel H, Lekaj A, Schara U, Holtgrewe M, Krause S, Horvath R, Schuelke M, Hübner C, Mundlos S, Roos A, Lochmüller H, Karcagi V, Kornak U, Fischer-Zirnsak B
J Inherit Metab Dis 2021 Jul;44(4):972-986. Epub 2021 Feb 4 doi: 10.1002/jimd.12341. PMID: 33320377 Free PMC Article

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis EC, Abuelo DN, Adamowicz M, Al-Aama J, Basel-Vanagaite L, Fernandez B, Greally MT, Gillessen-Kaesbach G, Kayserili H, Lemyre E, Tekin M, Türkmen S, Tuysuz B, Yüksel-Konuk B, Mundlos S, Van Maldergem L, Wevers RA, Urban Z
Hum Mol Genet 2009 Jun 15;18(12):2149-65. Epub 2009 Mar 25 doi: 10.1093/hmg/ddp148. PMID: 19321599 Free PMC Article

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Diagnosis

Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.

Zaman Q, Iftikhar A, Rehman G, Khan Q, Najumuddin, Jan A, Khan J, Anas M, Laiba, Umair M, Muthaffar OY, Abdulkareem AA, Bibi F, Naseer MI, Jelani M
J Gene Med 2023 Oct;25(10):e3522. Epub 2023 Apr 29 doi: 10.1002/jgm.3522. PMID: 37119015

Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient.

Wada Y, Kadoya M, Okamoto N
Glycobiology 2012 Aug;22(8):1140-4. Epub 2012 May 18 doi: 10.1093/glycob/cws086. PMID: 22611120

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.

Guernsey DL, Jiang H, Evans SC, Ferguson M, Matsuoka M, Nightingale M, Rideout AL, Provost S, Bedard K, Orr A, Dubé MP, Ludman M, Samuels ME
Am J Hum Genet 2009 Jul;85(1):120-9. Epub 2009 Jul 2 doi: 10.1016/j.ajhg.2009.06.008. PMID: 19576563 Free PMC Article

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