Vohwinkel Syndrome, Variant Form

Description

Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.

Genes related to Vohwinkel Syndrome, Variant Form

Clinical Features

Top most frequent phenotypes and symptoms related to Vohwinkel Syndrome, Variant Form

Hearing impairment
Sensorineural hearing impairment
Milia
Erythema
Hyperkeratosis
Ranula
Ichthyosis
Nail dystrophy
Palmoplantar keratoderma
Skin vesicle

And another 15 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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Vohwinkel Syndrome, Variant Form Recommended genes panels

Panel Name, Specifity and genes Tested/covered
LOR. By Institute for Human Genetics University Clinic Freiburg in Germany. LOR Specificity 100 % Genes 100 %
LOR. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. LOR Specificity 100 % Genes 100 %
Progressive Symmetric Erythrokeratoderma (sequence analysis of LOR gene). By CGC Genetics in Portugal. LOR Specificity 100 % 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 Panel GTR000559102 complete gene list ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4, CSTA, FLG, LIPN, ST14, CASP14, SULT2B1, SERPINB8, KDSR 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 Panel GTR000559155 complete gene list ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4, CSTA, FLG, LIPN, ST14, CASP14, SULT2B1, SERPINB8, KDSR 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 Panel GTR000559165 complete gene list ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4, CSTA, FLG, LIPN, ST14, CASP14, SULT2B1, SERPINB8, KDSR Specificity 4 % Genes 100 %
Erythrokeratodermias and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. DSP, GJB3, GJA1, KRT83, LOR, GJB4, KDSR Specificity 15 % Genes 100 %
Erythrokeratodermias and related disorders NGS panel. By Connective Tissue Gene Tests in United States. DSP, GJB3, GJA1, KRT83, LOR, GJB4, KDSR Specificity 15 % Genes 100 %
Erythrokeratodermias and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. DSP, GJB3, GJA1, KRT83, LOR, GJB4, KDSR Specificity 15 % Genes 100 %
Vohwinkel syndrome with ichthyosis. By Centogene AG - the Rare Disease Company in Germany. LOR Specificity 100 % 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 Panel GTR000522373 complete gene list ABCA12, ELOVL4, DSP, TAT, ABHD5, ALDH3A2, PHYH, ALMS1, GJB2, GJB6, SUMF1, TGM1, ATP2A2, ERCC2, ERCC3, GJB3, MBTPS2, EBP, NSDHL, CTSC, JUP, VPS33B, TGM5, KRT14, CDSN, CLDN1, SNAP29, ENPP1, ALOX12B, KRT9, SLC27A4, KRT16, KRT10, NIPAL4, SPINK5, KRT6A, KRT1, TRPV3, SLURP1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, AP1S1, DSG1, AAGAB, KRT6C, KRT17, POMP, GJB4, AQP5, CARD14, CSTA, FLG, GTF2H5, KRT6B, LIPN, ST14, RHBDF2, WNT10A, SERPINB7, ATP2C1 Specificity 2 % Genes 100 %
LOR. By Division Human Genetics Medical University Innsbruck in Austria. LOR Specificity 100 % Genes 100 %
LOR. By Fulgent Genetics Fulgent Genetics in United States. LOR 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 Panel GTR000552691 complete gene list ABCA12, ABHD5, ALDH3A2, PHYH, GJB2, PEX7, SUMF1, TGM1, ERCC2, GJB3, MBTPS2, EBP, GJA1, CDSN, ALOX12B, KRT9, SLC27A4, KRT10, NIPAL4, SPINK5, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, GJB4, MPLKIP, FLG Specificity 4 % Genes 100 %
Palmoplantar Keratoderma Panel. By Blueprint Genetics in Finland. DSP, GJB2, GJB6, MBTPS2, CTSC, JUP, PKP1, KRT14, ENPP1, KRT9, KRT16, KRT6A, KRT1, TRPV3, SLURP1, LOR, DSG1, AAGAB, KRT6C, KRT17 , (...) View the complete list with 5 more genes Panel GTR000561524 complete gene list DSP, GJB2, GJB6, MBTPS2, CTSC, JUP, PKP1, KRT14, ENPP1, KRT9, KRT16, KRT6A, KRT1, TRPV3, SLURP1, LOR, DSG1, AAGAB, KRT6C, KRT17, GJB4, AQP5, KRT6B, WNT10A, SERPINB7 Specificity 4 % Genes 100 %
Keratoderma hereditarium mutilans with ichthyosis. By Bioarray in Spain. LOR Specificity 100 % Genes 100 %
Vohwinkel with Ichthyosis Syndrome , Sequencing LOR Gene. By Reference Laboratory Genetics in Spain. LOR 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 Panel GTR000559649 complete gene list ABCA12, PHYH, GJB2, PEX7, SUMF1, TGM1, ERCC3, GJB3, EBP, TGM5, CLDN1, SNAP29, ALOX12B, KRT9, SLC27A4, KRT10, NIPAL4, SPINK5, KRT1, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, AP1S1, POMP, GJB4, MPLKIP, FLG, GTF2H5, LIPN, ST14 Specificity 4 % Genes 100 %
Erythrokeratodermia Variabilis et Progressiva , Panel Massive Sequencing (NGS) GJB4, GJB3, GJA1, LOR Genes. By Reference Laboratory Genetics in Spain. GJB3, GJA1, LOR, GJB4 Specificity 25 % Genes 100 %

Alternate names

Vohwinkel Syndrome, Variant Form Is also known as vohwinkel syndrome with ichthyosis, mutilating keratoderma with ichthyosis, loricrin keratoderma;camisa disease; keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome; loricrin keratoderma; vohwinkel syndrome with ichthyosis.

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