Keratosis Linearis-ichthyosis Congenita-sclerosing Keratoderma Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.

Genes related to Keratosis Linearis-ichthyosis Congenita-sclerosing Keratoderma Syndrome

POMP

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Clinical Features

Top most frequent phenotypes and symptoms related to Keratosis Linearis-ichthyosis Congenita-sclerosing Keratoderma Syndrome

Hyperkeratosis
Nail dystrophy
Ichthyosis
Palmoplantar keratoderma
Epidermal acanthosis
Striae distensae
Parakeratosis
Congenital nonbullous ichthyosiform erythroderma
Hypergranulosis
Amniotic constriction ring

And another 3 symptoms. If you need more information about this disease we can help you.

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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.

Alternative names

Keratosis Linearis-ichthyosis Congenita-sclerosing Keratoderma Syndrome Is also known as klick syndrome.

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.

Keratosis Linearis-ichthyosis Congenita-sclerosing Keratoderma Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
POMP. By Institute for Human Genetics University Clinic Freiburg (Germany). POMP Specificity 100 % Genes 100 %
Hereditary ichthyosis (NGS panel of 53 genes). By CGC Genetics (Portugal). SLC27A4, SNAP29, ST14, STIM1, STS, TGM1, TGM5, SHOC2, SPINK5, SLURP1, RIN2, PSAT1, POMP, VIPAS39, SUMF1, PNPLA1, SRD5A3, PIGL Specificity 6 % Genes 100 %
Hereditary ichthyosis (NGS panel of 53 genes). By CGC Genetics (Portugal). SLC27A4, SNAP29, ST14, STIM1, STS, TGM1, TGM5, SHOC2, SPINK5, SLURP1, RIN2, PSAT1, POMP, VIPAS39, SUMF1, PNPLA1, SRD5A3, PIGL Specificity 6 % Genes 100 %
Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SLC27A4, ST14, TGM1, ALOXE3, ABCA12, CLDN1, POMP, PNPLA1, ABHD5, LIPN, CERS3, CYP4F22, NIPAL4, ALOX12B, AP1S1, KRT1, KRT10, KRT2, KRT9 Specificity 6 % Genes 100 %
KLICK Syndrome via POMP Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). POMP 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 Panel complete gene list ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1, GJB4, ALOX12B, KRT1, KRT10, KRT2, LOR, SERPINB8 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 Panel complete gene list ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1, GJB4, ALOX12B, KRT1, KRT10, KRT2, LOR, SERPINB8 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 Panel complete gene list ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1, GJB4, ALOX12B, KRT1, KRT10, KRT2, LOR, SERPINB8 Specificity 4 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Search Engine

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