Cutis Laxa, Autosomal Recessive, Type IA

Alternative Names

  • ARCL1A
  • ARCL1
  • Cutis Laxa, Autosomal Recessive

Associated Genes

Elastin; Fibulin 5
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

219100

Mode of Inheritance

Autosomal recessive

Gene Map Locus

14q32.12

Description

Cutis laxa is a group of disorders affecting the connective tissue of the body. It results in loose, sagging skin and a prematurely aged appearance. FBLN5-related cutis laxa can also result in diaphragmatic, inguinal or umbilical hernias, pulmonary emphysema and cardiovascular anomalies such as aortic stenosis. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
219100.1.1LebanonMaleYesYes Cutis laxa ; Inguinal hernia ; Delayed...NM_006329.3:c.649T>CHomozygousAutosomal, RecessiveClaus et al, 2008 Proband
219100.1.2LebanonFemaleYesYes Cutis laxa ; Inguinal hernia ; Prematu...NM_006329.3:c.649T>CHomozygousAutosomal, RecessiveClaus et al, 2008 Sister of 219100.1.1
219100.2.1LebanonFemaleYesYes Redundant skin; Global developmental d...NM_000501.4:c.631C>T, NM_006329.3:c.901C>AHeterozygous, HomozygousAutosomal, RecessiveMégarbané et al, 2009 Homozygous mutation ...
219100.2.2LebanonMaleYesYes Redundant skin; Abnormal facial shapeNM_000501.4:c.631C>THomozygousAutosomal, RecessiveMégarbané et al, 2009 Sibling of 219100.2....
219100.3.1LebanonMaleYesYes Redundant skin; Abnormal facial shapeNM_000501.4:c.631C>THomozygousAutosomal, RecessiveMégarbané et al, 2009
219100.3.2LebanonMaleYesYes Redundant skin; Abnormal facial shapeNM_000501.4:c.631C>THomozygousAutosomal, RecessiveMégarbané et al, 2009 First cousin of 2191...
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