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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).
Autosomal recessive inheritance (Orphanet)
 
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

Autosomal recessive cutis laxa in two siblings associated with blue sclera.
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

Autosomal recessive cutis laxa in two siblings associated with blue sclera.
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

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