U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Autosomal recessive cutis laxa type 2, classic type

MedGen UID:
1825992
Concept ID:
C5679922
Disease or Syndrome
Synonyms: ADCL2; Arcl2; ARCL2, classic type; ARCL2, Debre type; ARCL2, Debré type; ARCL2A; autosomal recessive cutis laxa type 2, classic type; autosomal recessive cutis laxa type 2, Debre type; Autosomal recessive cutis laxa type 2, Debré type; autosomal recessive cutis laxa type 2, Debré type; autosomal recessive cutis laxa type II classic type
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).
 
Monarch Initiative: MONDO:0009054
Orphanet: ORPHA357074

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive cutis laxa type 2, classic type

Recent clinical studies

Etiology

Girisgen I, Mungan I, Cakir M, Ersoz S, Okten A
Pediatr Dermatol 2007 May-Jun;24(3):E10-3. doi: 10.1111/j.1525-1470.2007.00384.x. PMID: 17509111

Diagnosis

Girisgen I, Mungan I, Cakir M, Ersoz S, Okten A
Pediatr Dermatol 2007 May-Jun;24(3):E10-3. doi: 10.1111/j.1525-1470.2007.00384.x. PMID: 17509111

Supplemental Content

Table of contents

    Clinical resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...