Ichthyosis, Congenital, Autosomal Recessive 5

Alternative Names

  • ARCI5
  • Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
  • NNCI
  • Ichthyosis Congenita III
  • Ichthyosis Lamellar, 3
  • LI3
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

604777

Mode of Inheritance

Autosomal recessive

Gene Map Locus

19p13.12

Description

ARCI5 is one of the group of automal recessive congenital ichthyoses, characterized by generalized desquamation of the skin with erythema.  Patients with ARCI5 present with a non-bullous CIE phenotype and show hyperlinearity of palms and soles. 

Mutations in the CYP4F22 gene are known to be causal for this condition.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
604777.1.1AlgeriaFemaleYesYes Ichthyosis; Congenital ichthyosiform e...NM_173483.3:c.1303C>THomozygousAutosomal, RecessiveLefevre et al. 2006
604777.1.2AlgeriaMaleYesYes Ichthyosis; Congenital ichthyosiform e...NM_173483.3:c.1303C>THomozygousAutosomal, RecessiveLefevre et al. 2006 Sibling of 604777.1....
604777.2.1AlgeriaMaleYesYes Ichthyosis; Congenital ichthyosiform er...NM_173483.3:c.1303C>THomozygousAutosomal, RecessiveLefevre et al. 2006
604777.2.2AlgeriaFemaleYesYes Ichthyosis; Congenital ichthyosiform er...NM_173483.3:c.1303C>THomozygousAutosomal, RecessiveLefevre et al. 2006 Sibling of 604777.2....
604777.3.1AlgeriaFemaleYesYes Ichthyosis; Congenital ichthyosiform er...NM_173483.3:c.1303C>THomozygousAutosomal, RecessiveLefevre et al. 2006
604777.3.2AlgeriaFemaleYesYes Ichthyosis; Congenital ichthyosiform er...NM_173483.3:c.1303C>THomozygousAutosomal, RecessiveLefevre et al. 2006 Sibling of 604777.3....
604777.3.3AlgeriaMaleYesYes Ichthyosis; Congenital ichthyosiform er...NM_173483.3:c.1303C>THomozygousAutosomal, RecessiveLefevre et al. 2006 Sibling of 604777.3....
604777.4.1AlgeriaMaleYesYes Ichthyosis; Congenital ichthyosiform er...NM_173483.3:c.1303C>THomozygousAutosomal, RecessiveLefevre et al. 2006
604777.4.2AlgeriaMaleYesYes Ichthyosis; Congenital ichthyosiform er...NM_173483.3:c.1303C>THomozygousAutosomal, RecessiveLefevre et al. 2006 Sibling of 604777.4....
604777.5.1AlgeriaFemaleYesYes Ichthyosis; Congenital ichthyosiform er...NM_173483.3:c.1303C>THomozygousAutosomal, RecessiveLefevre et al. 2006
604777.5.2AlgeriaFemaleYesYes Ichthyosis; Congenital ichthyosiform er...NM_173483.3:c.1303C>THomozygousAutosomal, RecessiveLefevre et al. 2006 Sibling of 604777.5....
604777.6AlgeriaMaleYes Ichthyosis; Congenital ichthyosiform e...NM_173483.3:c.728G>AHomozygousAutosomal, RecessiveLefevre et al. 2006
604777.7AlgeriaMaleYes Ichthyosis; Congenital ichthyosiform er...NM_173483.3:c.177C>GHomozygousAutosomal, RecessiveLefevre et al. 2006
604777.8AlgeriaFemaleYes Ichthyosis; Congenital ichthyosiform er...NM_173483.3:c.1114C>THomozygousAutosomal, RecessiveLefevre et al. 2006
604777.9LebanonFemaleYes Ichthyosis; Congenital ichthyosiform e...NM_173483.3:c.981delHomozygousAutosomal, RecessiveLefevre et al. 2006
604778.10.1AlgeriaFemaleYesYes Ichthyosis; Congenital ichthyosiform er...NM_173483.3:c.1306C>GHomozygousAutosomal, RecessiveLefevre et al. 2006
604778.10.2AlgeriaFemaleYesYes Ichthyosis; Congenital ichthyosiform er...NM_173483.3:c.1306C>GHomozygousAutosomal, RecessiveLefevre et al. 2006 Sibling of 604778.10...
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