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Autosomal recessive cutis laxa type 1

MedGen UID:
78663
•Concept ID:
C0268351
•
Congenital Abnormality
Synonym: Cutis Laxa, Autosomal Recessive, Type I
SNOMED CT: Cutis laxa, recessive, type I (254222002)
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:0019572
Orphanet: ORPHA90349

Definition

A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive cutis laxa type 1

Recent clinical studies

Diagnosis

Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families.
McKenzie F, Mina K, Callewaert B, Beyens A, Dickinson JE, Jevon G, Papadimitriou J, Diness BR, Steensberg JN, Ek J, Baynam G
Clin Genet 2021 Aug;100(2):168-175. Epub 2021 Apr 25 doi: 10.1111/cge.13969. PMID: 33866545

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