Ichthyosis, Congenital, Autosomal Recessive 14; Arci14

Clinical Features

Phenotypes and symptoms related to Ichthyosis, Congenital, Autosomal Recessive 14; Arci14

  • Hyperkeratosis
  • Erythema
  • Pruritus
  • Ichthyosis
  • Scaling skin
  • Congenital ichthyosiform erythroderma

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Ichthyosis, Congenital, Autosomal Recessive 14; Arci14 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SULT2B1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

SULT2B1
Specificity
100 %
Genes
100 %
Ichthyosis Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Ichthyosis NGS panel.

By Connective Tissue Gene Tests (United States).

ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Ichthyosis Comprehensive panel.

By Connective Tissue Gene Tests (United States).

ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Polycystic ovary syndrome type 1.

By Centogene AG - the Rare Disease Company (Germany).

SULT2B1
Specificity
100 %
Genes
100 %
SULT2B1.

By Fulgent Genetics Fulgent Genetics (United States).

SULT2B1
Specificity
100 %
Genes
100 %

You can get up to -2 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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