Ichthyosis, Congenital, Autosomal Recessive 1; Arci1

Description

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B ) (Oji et al., 2010).NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). Genetic Heterogeneity of Autosomal Recessive Congenital IchthyosisAutosomal recessive congenital ichthyosis-2 (ARCI2 ) is caused by mutation in the ALOX12B gene (OMIM ) on chromosome 17p13.1. ARCI3 (OMIM ) is caused by mutation in the ALOXE3 gene (OMIM ) on chromosome 17p13.1. ARCI4A (OMIM ) and ARCI4B (harlequin ichthyosis; {242500}) are caused by mutation in the ABCA12 gene (OMIM ) on chromosome 2q35. ARCI5 (OMIM ) is caused by mutation in the CYP4F22 gene (OMIM ) on chromosome 19p13. ARCI6 (OMIM ) is caused by mutation in the NIPAL4 gene (ichthyin ) on chromosome 5q33. ARCI7 (OMIM ) has been mapped to chromosome 12p11. ARCI8 (OMIM ) is caused by mutation in the LIPN gene (OMIM ) on chromosome 10q23. ARCI9 (OMIM ) is caused by mutation in the CERS3 gene (OMIM ) on chromosome 15q26. ARCI10 (OMIM ) is caused by mutation in the PNPLA1 gene (OMIM ) on chromosome 6p21. ARCI11 (OMIM ) is caused by mutation in the ST14 gene (OMIM ) on chromosome 11q24. ARCI12 (OMIM ) is caused by mutation in the CASP14 gene (OMIM ) on chromosome 19p13. ARCI13 (OMIM ) is caused by mutation in the SDR9C7 gene (OMIM ) on chromosome 12q13. ARCI14 (OMIM ) is caused by mutation in the SULT2B1 gene (OMIM ) on chromosome 19q13.Ichthyosis prematurity syndrome (OMIM ) is a self-improving form of ichthyosis that includes respiratory complications at birth and persistent eosinophilia and is caused by mutation in the FATP4 (SLC27A4 ) gene. A rare syndromic form of NCIE, Chanarin-Dorfman syndrome (OMIM ), is caused by mutation in the ABHD5 gene (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Ichthyosis, Congenital, Autosomal Recessive 1; Arci1

  • Pica
  • Failure to thrive
  • Flexion contracture
  • Nevus
  • Tics
  • Edema
  • Alopecia
  • Erythema
  • Visual loss
  • Hyperkeratosis
And another 23 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 1; Arci1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SULT2B1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

SULT2B1
Specificity
100 %
Genes
25 %
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
15 %
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
15 %
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
15 %
Genes
100 %
Polycystic ovary syndrome type 1.

By Centogene AG - the Rare Disease Company in Germany.

SULT2B1
Specificity
100 %
Genes
25 %
SULT2B1.

By Fulgent Genetics Fulgent Genetics in United States.

SULT2B1
Specificity
100 %
Genes
25 %
ALOX12B.

By Institute for Human Genetics University Clinic Freiburg in Germany.

ALOX12B
Specificity
100 %
Genes
25 %
ALOX12B. Complete sequencing.

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

ALOX12B
Specificity
100 %
Genes
25 %
TGM1, ALOX12B, ALOXE3, ABCA12. NextGeneDx. Complete sequencing by NGS.

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

ABCA12, ALOX12B, ALOXE3
Specificity
67 %
Genes
50 %
Congenital ichthyosis type 2, AR (sequence analysis of ALOX12B gene).

By CGC Genetics in Portugal.

ALOX12B
Specificity
100 %
Genes
25 %
Autosomal Recessive Congenital Ichthyosis (ARCI) via ALOX12B Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALOX12B
Specificity
100 %
Genes
25 %
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
16 %
Genes
75 %
Ichthyosiform erythroderma, congenital, nonbullous type 1.

By Centogene AG - the Rare Disease Company in Germany.

ALOX12B
Specificity
100 %
Genes
25 %
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
75 %
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
75 %
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
5 %
Genes
75 %
ICHTHYOSIS (CONGENITAL).

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

ABCA12, TGM1, ALOX12B, NIPAL4, ALOXE3, PNPLA1, KRT2, CYP4F22
Specificity
38 %
Genes
75 %
ALOX12B.

By Fulgent Genetics Fulgent Genetics in United States.

ALOX12B
Specificity
100 %
Genes
25 %
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
10 %
Genes
75 %
Congenital lamellar ichthyosis type 2.

By Bioarray in Spain.

ALOX12B
Specificity
100 %
Genes
25 %
ICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

ABCA12, TGM1, ALOX12B, NIPAL4, CERS3, ALOXE3, PNPLA1, CYP4F22, LIPN
Specificity
34 %
Genes
75 %
ICHTHYOSIFORM ERYTHRODERMA, NON-BULLOUS CONGENITAL.

By Laboratorio de Genetica Clinica SL in Spain.

TGM1, ALOX12B, NIPAL4, ALOXE3
Specificity
75 %
Genes
75 %
ICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE.

By Laboratorio de Genetica Clinica SL in Spain.

ABCA12, TGM1, ALOX12B, NIPAL4, CERS3, ALOXE3, PNPLA1, CYP4F22, LIPN
Specificity
34 %
Genes
75 %
Autosomal Recessive Congenital Ichthyosis Type 2 , Sequencing ALOX12B Gene.

By Reference Laboratory Genetics in Spain.

ALOX12B
Specificity
100 %
Genes
25 %
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
10 %
Genes
75 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
25 %
ALOXE3.

By Institute for Human Genetics University Clinic Freiburg in Germany.

ALOXE3
Specificity
100 %
Genes
25 %
ALOXE3. Complete sequencing.

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

ALOXE3
Specificity
100 %
Genes
25 %
Congenital ichthyosis type 3, AR (sequence analysis of ALOXE3 gene).

By CGC Genetics in Portugal.

ALOXE3
Specificity
100 %
Genes
25 %
Autosomal Recessive Congenital Ichthyosis (ARCI) via ALOXE3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALOXE3
Specificity
100 %
Genes
25 %
Ichthyosiform erythroderma, congenital, nonbullous type 1.

By Centogene AG - the Rare Disease Company in Germany.

ALOXE3
Specificity
100 %
Genes
25 %
ALOXE3.

By Fulgent Genetics Fulgent Genetics in United States.

ALOXE3
Specificity
100 %
Genes
25 %
Congenital lamellar ichthyosis type 3.

By Bioarray in Spain.

ALOXE3
Specificity
100 %
Genes
25 %
Autosomal Recessive Congenital Ichthyosis Type 3 , Sequencing ALOXE3 Gene.

By Reference Laboratory Genetics in Spain.

ALOXE3
Specificity
100 %
Genes
25 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
25 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
25 %
TGM1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

TGM1
Specificity
100 %
Genes
25 %
TGM1. Complete sequencing.

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

TGM1
Specificity
100 %
Genes
25 %
TGM1, ALOX12B, ALOXE3, ABCA12. NextGeneDx. Complete sequencing by NGS.

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

TGM1
Specificity
100 %
Genes
25 %
Autosomal Recessive Congenital Ichthyosis (sequence analysis of TGM1 gene).

By CGC Genetics in Portugal.

TGM1
Specificity
100 %
Genes
25 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics in Portugal.

SRD5A3, SHOC2, SUMF1, TGM1, VIPAS39, STIM1, TGM5, PIGL, RIN2, SNAP29, SLC27A4, SPINK5, SLURP1, STS, PNPLA1, POMP, ST14, PSAT1
Specificity
6 %
Genes
25 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics in Portugal.

SRD5A3, SHOC2, SUMF1, TGM1, VIPAS39, STIM1, TGM5, PIGL, RIN2, SNAP29, SLC27A4, SPINK5, SLURP1, STS, PNPLA1, POMP, ST14, PSAT1
Specificity
6 %
Genes
25 %
ichthyosis lamellar type 1 ,TGM1.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

TGM1
Specificity
100 %
Genes
25 %
Autosomal Recessive Congenital Ichthyosis (ARCI) via the TGM1 Gene.

By PreventionGenetics PreventionGenetics in United States.

TGM1
Specificity
100 %
Genes
25 %
Ichthyosiform erythroderma, congenital, nonbullous type 1.

By Centogene AG - the Rare Disease Company in Germany.

TGM1
Specificity
100 %
Genes
25 %
Ichthyosis, lamellar type 1.

By Centogene AG - the Rare Disease Company in Germany.

TGM1
Specificity
100 %
Genes
25 %
TGM1-Related Congenital Ichthyosis.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

TGM1
Specificity
100 %
Genes
25 %
Ichthyosis, Autosomal recessive congenital: TGM1 gene sequence analysis.

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

TGM1
Specificity
100 %
Genes
25 %
TGM1.

By Fulgent Genetics Fulgent Genetics in United States.

TGM1
Specificity
100 %
Genes
25 %
Congenital lamellar ichthyosis type 1.

By Bioarray in Spain.

TGM1
Specificity
100 %
Genes
25 %
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
25 %
Autosomal Recessive Congenital Ichthyosis, Sequencing TGM1 Gene.

By Reference Laboratory Genetics in Spain.

TGM1
Specificity
100 %
Genes
25 %
Lamellar Icthyosis : TGM1 gene sequencing.

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

TGM1
Specificity
100 %
Genes
25 %

Alternate names

Ichthyosis, Congenital, Autosomal Recessive 1; Arci1 Is also known as ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution, collodion baby, self-healing;shcb, ichthyosis congenita, lamellar exfoliation of newborn, desquamation of newborn, collodion fetus, ichthyosis congenita ii;icr2, ichthyosis, lamellar, 1, formerly;li1, formerly;shcb; sici; self-healing collodion baby; self-improving congenital ichthyosis.



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