1. Diseases
  2. Autosomal recessive cutis laxa type 1

Autosomal recessive cutis laxa type 1

Disease Export to PDF
Name:
Autosomal recessive cutis laxa type 1
Description:
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).
ORPHAcode:
90349
Synonyms:
ARCL1
Autosomal recessive cutis laxa with severe systemic involvement
Autosomal recessive cutis laxa, pulmonary emphysema type
XREF(s):
Orphanet
OMIM
ICD-10
OMIM
Analyte(s):
EFEMP2
FBLN5
LTBP1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Cutis Laxa / Geroderma osteodysplasticum - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ALDH18A1 100.00 1
    ATP6V0A2 100.00 1
    ATP7A 100.00 1
    COG7 100.00 1
    EFEMP2 100.00 1
    ELN 100.00 1
    FBLN5 100.00 1
    GORAB 100.00 1
    LTBP4 100.00 1
    NAA10 100.00 1
    PYCR1 100.00 1
    RIN2 100.00 1
    TALDO1 100.00 1
    ATP6V1A 100.00 1
    ATP6V1E1 100.00 1
    EFEMP1 100.00 1
    LOX 100.00 1
    LTBP1 100.00 1