Ichthyosis, Congenital, Autosomal Recessive 4b; Arci4b

Description

Harlequin ichthyosis is a rare severe form of congenital ichthyosis, which may be fatal. The neonate is encased in an 'armor' of thick scale plates separated by deep fissures. There is bilateral ectropion and eclabium, and the nose and ears are flattened and appear rudimentary. Constricting bands around the extremities can restrict movement and cause digital necrosis. As the skin barrier is severely compromised, neonates are more prone to sepsis, dehydration, and impaired thermoregulation. Treatment with oral retinoids encourages shedding of the grossly thickened skin. Babies who survive into infancy and beyond develop skin changes resembling severe nonbullous congenital ichthyosiform erythroderma (see {242300}) (summary by Rajpopat et al., 2011).At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass lamellar ichthyosis (LI), nonbullous congenital ichthyosis erythroderma (NCIE), and harlequin ichthyosis (Oji et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Ichthyosis, Congenital, Autosomal Recessive 4b; Arci4b

  • Global developmental delay
  • Pica
  • Cataract
  • Tics
  • Respiratory insufficiency
  • Recurrent respiratory infections
  • Respiratory failure
  • Hyperkeratosis
  • Proptosis
  • Arthritis
And another 24 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Ichthyosis, Congenital, Autosomal Recessive 4b; Arci4b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
ABCA12.

By Institute for Human Genetics University Clinic Freiburg in Germany.

ABCA12
Specificity
100 %
Genes
100 %
ABCA12 Gene Sequencing.

By GeneDx in United States.

ABCA12
Specificity
100 %
Genes
100 %
ABCA12 Select Exon Sequencing.

By GeneDx in United States.

ABCA12
Specificity
100 %
Genes
100 %
ABCA12. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ABCA12
Specificity
100 %
Genes
100 %
ABCA12. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ABCA12
Specificity
100 %
Genes
100 %
TGM1, ALOX12B, ALOXE3, ABCA12. NextGeneDx. Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ABCA12, ALOX12B, ALOXE3
Specificity
34 %
Genes
100 %
Ichthyosis, AR 4B (harlequin) (sequence analysis of ABCA12 gene).

By CGC Genetics in Portugal.

ABCA12
Specificity
100 %
Genes
100 %
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ABCA12 Gene.

By PreventionGenetics PreventionGenetics in United States.

ABCA12
Specificity
100 %
Genes
100 %
Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABCA12, ABHD5, TGM1, CLDN1, ALOX12B, KRT9, SLC27A4, KRT10, NIPAL4, KRT1, CERS3, ALOXE3, PNPLA1, KRT2, CYP4F22, AP1S1, POMP, LIPN, ST14
Specificity
6 %
Genes
100 %
Ichthyosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Ichthyosis NGS panel.

By Connective Tissue Gene Tests in United States.

ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Ichthyosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Ichthyosis, lamellar type 2.

By Centogene AG - the Rare Disease Company in Germany.

ABCA12
Specificity
100 %
Genes
100 %
Ichthyosis congenita, Harlequin fetus type.

By Centogene AG - the Rare Disease Company in Germany.

ABCA12
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Ichthyoses and related disorders of cornification Panel.

By CeGaT GmbH in Germany.

ABCA12, ELOVL4, DSP, TAT, ABHD5, ALDH3A2, PHYH, ALMS1, GJB2, GJB6, SUMF1, TGM1, ATP2A2, ERCC2, ERCC3, GJB3, MBTPS2, EBP, NSDHL, CTSC , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
ICHTHYOSIS (CONGENITAL).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ABCA12, TGM1, ALOX12B, NIPAL4, ALOXE3, PNPLA1, KRT2, CYP4F22
Specificity
13 %
Genes
100 %
ABCA12.

By Fulgent Genetics Fulgent Genetics in United States.

ABCA12
Specificity
100 %
Genes
100 %
Ichthyosis Panel.

By Blueprint Genetics in Finland.

ABCA12, ABHD5, ALDH3A2, PHYH, GJB2, PEX7, SUMF1, TGM1, ERCC2, GJB3, MBTPS2, EBP, GJA1, CDSN, ALOX12B, KRT9, SLC27A4, KRT10, NIPAL4, SPINK5 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Congenital lamellar ichthyosis type 4A.

By Bioarray in Spain.

ABCA12
Specificity
100 %
Genes
100 %
Harlequin ichthyosis.

By Bioarray in Spain.

ABCA12
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
ICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

ABCA12, TGM1, ALOX12B, NIPAL4, CERS3, ALOXE3, PNPLA1, CYP4F22, LIPN
Specificity
12 %
Genes
100 %
ICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE.

By Laboratorio de Genetica Clinica SL in Spain.

ABCA12, TGM1, ALOX12B, NIPAL4, CERS3, ALOXE3, PNPLA1, CYP4F22, LIPN
Specificity
12 %
Genes
100 %
ICHTHYOSIS CONGENITA, HARLEQUIN-TYPE.

By Laboratorio de Genetica Clinica SL in Spain.

ABCA12
Specificity
100 %
Genes
100 %
ICHTHYOSIS, LAMELLAR , TYPE 1.

By Laboratorio de Genetica Clinica SL in Spain.

ABCA12
Specificity
100 %
Genes
100 %
ICHTHYOSIS, LAMELLAR , TYPE 2.

By Laboratorio de Genetica Clinica SL in Spain.

ABCA12
Specificity
100 %
Genes
100 %
Congenital Ichthyosis Type Harlequin Fetus , Sequencing ABCA12 Gene.

By Reference Laboratory Genetics in Spain.

ABCA12
Specificity
100 %
Genes
100 %
Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes.

By Reference Laboratory Genetics in Spain.

ABCA12, PHYH, GJB2, PEX7, SUMF1, TGM1, ERCC3, GJB3, EBP, TGM5, CLDN1, SNAP29, ALOX12B, KRT9, SLC27A4, KRT10, NIPAL4, SPINK5, KRT1, LOR , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Harlequin Ichthyosis.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

ABCA12
Specificity
100 %
Genes
100 %

Alternate names

Ichthyosis, Congenital, Autosomal Recessive 4b; Arci4b Is also known as ichthyosis congenita, harlequin fetus type, harlequin ichthyosis;hi, 'harlequin fetus';hi; ichthyosis congenita, harlequin type; ichthyosis fetalis, harlequin type.



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