Ichthyosis Bullosa Of Siemens; Ibs

Description

Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.

Genes related to Ichthyosis Bullosa Of Siemens; Ibs

SERPINB8
CSTA
KRT2

Clinical Features

Phenotypes and symptoms related to Ichthyosis Bullosa Of Siemens; Ibs

Erythema
Hyperkeratosis
Hyperhidrosis
Ichthyosis
Abnormal blistering of the skin
Skin vesicle
Erythroderma
Lichenification
Congenital bullous ichthyosiform erythroderma

Incidence and onset information

— Not enough data available about incidence and published cases.

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Ichthyosis Bullosa Of Siemens; Ibs Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SERPINB8. By Institute for Human Genetics University Clinic Freiburg in Germany. SERPINB8 Specificity 100 % Genes 34 %
Epidermolysis bullosa Comprehensive panel. By Connective Tissue Gene Tests in United States. KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8 , (...) View the complete list with 3 more genes Panel GTR000559083 complete gene list KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, CDSN, CSTA, SERPINB8 Specificity 9 % Genes 67 %
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 11 % Genes 100 %
Epidermolysis bullosa NGS panel. By Connective Tissue Gene Tests in United States. KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8 , (...) View the complete list with 3 more genes Panel GTR000559122 complete gene list KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, CDSN, CSTA, SERPINB8 Specificity 9 % Genes 67 %
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 11 % Genes 100 %
Epidermolysis bullosa Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8 , (...) View the complete list with 3 more genes Panel GTR000559162 complete gene list KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, CDSN, CSTA, SERPINB8 Specificity 9 % Genes 67 %
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 11 % Genes 100 %
Peeling skin syndrome NGS panel. By Connective Tissue Gene Tests in United States. TGM5, CHST8, CDSN, CAST, CSTA, SERPINB8, FLG2 Specificity 29 % Genes 67 %
Peeling skin syndrome Comprehensive panel. By Connective Tissue Gene Tests in United States. TGM5, CHST8, CDSN, CAST, CSTA, SERPINB8, FLG2 Specificity 29 % Genes 67 %
Peeling skin syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. TGM5, CHST8, CDSN, CAST, CSTA, SERPINB8, FLG2 Specificity 29 % Genes 67 %
SERPINB8. By Fulgent Genetics Fulgent Genetics in United States. SERPINB8 Specificity 100 % Genes 34 %
CSTA. By Institute for Human Genetics University Clinic Freiburg in Germany. CSTA Specificity 100 % Genes 34 %
Peeling skin syndrome type 4. By Centogene AG - the Rare Disease Company in Germany. CSTA Specificity 100 % Genes 34 %
Epidermolysis bullosa panel. By Centogene AG - the Rare Disease Company in Germany. KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, DSG1 , (...) View the complete list with 2 more genes Panel GTR000552613 complete gene list KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, DSG1, CSTA, MMP1 Specificity 5 % Genes 34 %
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 4 % Genes 67 %
CSTA. By Fulgent Genetics Fulgent Genetics in United States. CSTA Specificity 100 % Genes 34 %
KRT2. By Institute for Human Genetics University Clinic Freiburg in Germany. KRT2 Specificity 100 % Genes 34 %
KRT2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KRT2 Specificity 100 % Genes 34 %
Ichthyosis bullosa of Siemens (sequence analysis of KRT2 gene). By CGC Genetics in Portugal. KRT2 Specificity 100 % Genes 34 %
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 34 %
Ichthyosis Bullosa, Siemens via KRT2 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. KRT2 Specificity 100 % Genes 34 %
Ichthyosis, bullous type. By Centogene AG - the Rare Disease Company in Germany. KRT2 Specificity 100 % Genes 34 %
Ichthyosis bullosa of Siemens: KRT2 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. KRT2 Specificity 100 % Genes 34 %
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 34 %
KRT2. By Fulgent Genetics Fulgent Genetics in United States. KRT2 Specificity 100 % Genes 34 %
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 34 %
Ichthyosis bullosa of Siemens. By Bioarray in Spain. KRT2 Specificity 100 % Genes 34 %
ICHTHYOSIS BULLOSA (SIEMENS DISEASE). By Laboratorio de Genetica Clinica SL in Spain. KRT2 Specificity 100 % Genes 34 %
Ichthyosis Bullosa of Siemens , Sequencing KRT2 Gene. By Reference Laboratory Genetics in Spain. KRT2 Specificity 100 % Genes 34 %
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 34 %

Alternate names

Ichthyosis Bullosa Of Siemens; Ibs Is also known as ichthyosis, bullous type;autosomal recessive exfoliative ichthyosis; ichthyosis exfoliativa.

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