Ichthyosis-short Stature-brachydactyly-microspherophakia Syndrome

Table of contents:

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

Description

Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present (summary by Shah et al., 2014).For a discussion of genetic heterogeneity of Weill-Marchesani syndrome, see WMS1 (OMIM ).

Genes related to Ichthyosis-short Stature-brachydactyly-microspherophakia Syndrome

CERS3
ADAMTS17

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Clinical Features

Top most frequent phenotypes and symptoms related to Ichthyosis-short Stature-brachydactyly-microspherophakia Syndrome

Short stature
Cataract
Brachydactyly
Myopia
Optic atrophy
Glaucoma
Joint stiffness
Short palm
High myopia
Thickened skin

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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

Ichthyosis-short Stature-brachydactyly-microspherophakia Syndrome Is also known as wmsl, weill-marchesani-like syndrome, 15q26.3 microdeletion 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.

Ichthyosis-short Stature-brachydactyly-microspherophakia Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CERS3. By Institute for Human Genetics University Clinic Freiburg (Germany). CERS3 Specificity 100 % Genes 50 %
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 50 %
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 50 %
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 50 %
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 50 %
CentoICU platinum plus. By Centogene AG - the Rare Disease Company (Germany). RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...) View the complete list with 487 more genes Panel complete gene list RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF, SLC25A1, SLC25A13, SLC26A2, SLC2A1, BRCA2, SLC3A1, SLC5A5, SLC7A7, SLC9A6, SMPD1, SOS1, SOX2, BTD, SPINK1, SPR, SPTA1, SPTAN1, SPTB, BTK, STAR, STIM1, CDKL5, STS, STXBP1, SUCLA2, SUCLG1, SUOX, TAT, TAZ, TBX19, TBX5, HNF1A, HNF1B, TCF4, TCN2, TG, TGM1, THRA, TJP2, ACOX1, CD40, CD40LG, TPO, SERPING1, TSC1, TSC2, TSHB, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG, UQCRC2, UROS, KDM6A, WAS, WFS1, WT1, ZAP70, AICDA, DUOX2, ADAMTS13, ALOXE3, CACNA1C, CACNA1D, CACNB2, SLC25A20, BLNK, NSD1, RAB18, SLC25A19, CALM1, NPC2, WNK1, ABCA12, ZEB2, CASK, CASR, SHOC2, GPHN, CBS, LRPPRC, NDUFAF5, SALL4, SUGCT, PCNT, NFU1, UPB1, ACTN1, CD19, CARD11, SOX6, LIAS, BSND, CD320, CD3D, CD3E, CD3G, CD247, BCKDK, CD79A, CD79B, CD81, RAB3GAP1, CDAN1, RAB3GAP2, CENPJ, AASS, ADGRV1, LRBA, DCLRE1C, TNFRSF13C, PDSS1, NAGS, P2RY12, TNFRSF13B, IER3IP1, ADA, CDK5RAP2, NAA10, NDUFAF1, CFTR, MMAA, LRRC8A, MASTL, ASPM, PSAT1, FRAS1, DOCK8, P3H1, MMAB, SBDS, POMT2, EVC2, SPRED1, NDUFA11, SUMF1, CHD7, AARS2, SERAC1, UQCC2, PNPLA1, PDHX, ACAD9, NHLRC1, MPC1, LHX4, COL11A1, COL17A1, COL1A2, COL7A1, COMP, CORO1A, COX15, ABAT, LMBRD1, PDSS2, PNPT1, CPT1A, ETHE1, CPT2, CR2, DOLK, LIPN, GNE, PTF1A, CERS3, CRTAP, GLYCTK, WDR62, MMACHC, CSTB, CTNS, CTPS1, MMADHC, COQ2, CTSD, COQ9, PPM1K, TRMU, ADK, NHEJ1, CYP11B1, CYP11B2, CYP17A1, C12orf65, CYP4F22, JAGN1, FOXRED1, C15orf41, DBT, DDC, ACSF3, NIPAL4, NDUFAF2, D2HGDH, GLIS3, DHCR7, NDUFAF6, NIPBL, MAGT1, DLAT, DLD, CEP290, ADSL, ANKRD26, CEP152, DNA2, GPSM2, GNPTAB, LAMTOR2, SLC52A1, PNPO, SLC46A1, DNAJC19, EDN3, AGA, AGL, EGR2, EIF2AK3, DUOXA2, ABCA3, ELANE, EPB42, COA5, SDHAF1, AGXT, EPM2A, AHCY, ETFA, ETFB, ETFDH, EVC, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH, FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FKTN, FGA, FGB, FGFR2, FGG, FH, ATP8B1, AKAP9, FOXG1, AKR1D1, AKT2, ALAS2, PET100, FUCA1, ALDH3A2, G6PD, SLC37A4, GAA, ALDH5A1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, ALDOB, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, ALMS1, GJB2, GK, GLA, GLB1, ALOX12B, GLDC, GNA11, ALPL, GNAS, GNMT, GP1BA, GP9, GPC3, GSS, GUSB, GYS2, AMT, HADH, HSD17B10, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, ANK1, HLCS, HMGCL, HMGCS2, HNF4A, HPD, HPRT1, HRAS, HSD17B4, HSD3B2, ABCC2, ICOS, IRF8, IGF1, IGF1R, IGLL1, ABCC8, IKBKB, IL12RB1, IL2, IL21R, IL2RA, IL2RG, IL7R, INS, APOC2, INSR, PDX1, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAK3, KCNE1, KCNH2, KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KLF1, KRAS, KRT5, LAMA2, LAMA3, LAMB3, LAMC2, LCK, LHX3, LIG4, LIPA, ARG1, ABCD4, MALT1, MAN2B1, MAP2K1, MAP2K2, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, ARSA, KMT2D, ARSB, MLYCD, ALDH6A1, MOCS1, MOCS2, MTHFR, ASL, MTR, MTRR, MMUT, ASNS, MVK, MYCN, ASPA, ASS1, NDUFA2, NDUFS2, NDUFS4, NDUFS7, NDUFV2, SERPINC1, NEU1, NFKB2, NOTCH2, PNP, NPC1, NR0B1, NRAS, OAT, OGDH, OPA3, OPLAH, OPRM1, OTC, OXCT1, ATP6V1B1, P2RX1, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, ATP7A, ACAD8, ATP7B, PCK1, AIFM1, ALDH7A1, ACADL, PDHA1, PDHB, ATR, PEPD, ATRX, ACADM, AUH, PHGDH, SERPINA1, PIK3CD, ACADS, PKD2, PKHD1, PKLR, PLEC, PLOD1, ACADSB, PMM2, PMP22, PHOX2B, POLG, ACADVL, POMC, POMT1, POU1F1, CTSA, PDP1, ACAT1, PRKAG2, PRKDC, PRODH, PROP1, PROS1, PRPS1, PSAP, PSEN1, PSPH, PTPN11, PTPRC, PTS, QDPR, RAC2, RAF1, RAG1, RAG2, BCKDHA, BCKDHB, RB1, RBBP8, RBM8A, RET Specificity 1 % Genes 50 %
New Born testing (CentoICU). By Centogene AG - the Rare Disease Company (Germany). RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...) View the complete list with 487 more genes Panel complete gene list RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF, SLC25A1, SLC25A13, SLC26A2, SLC2A1, BRCA2, SLC3A1, SLC5A5, SLC7A7, SLC9A6, SMPD1, SOS1, SOX2, BTD, SPINK1, SPR, SPTA1, SPTAN1, SPTB, BTK, STAR, STIM1, CDKL5, STS, STXBP1, SUCLA2, SUCLG1, SUOX, TAT, TAZ, TBX19, TBX5, HNF1A, HNF1B, TCF4, TCN2, TG, TGM1, THRA, TJP2, ACOX1, CD40, CD40LG, TPO, SERPING1, TSC1, TSC2, TSHB, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG, UQCRC2, UROS, KDM6A, WAS, WFS1, WT1, ZAP70, AICDA, DUOX2, ADAMTS13, ALOXE3, CACNA1C, CACNA1D, CACNB2, SLC25A20, BLNK, NSD1, RAB18, SLC25A19, CALM1, NPC2, WNK1, ABCA12, ZEB2, CASK, CASR, SHOC2, GPHN, CBS, LRPPRC, NDUFAF5, SALL4, SUGCT, PCNT, NFU1, UPB1, ACTN1, CD19, CARD11, SOX6, LIAS, BSND, CD320, CD3D, CD3E, CD3G, CD247, BCKDK, CD79A, CD79B, CD81, RAB3GAP1, CDAN1, RAB3GAP2, CENPJ, AASS, ADGRV1, LRBA, DCLRE1C, TNFRSF13C, PDSS1, NAGS, P2RY12, TNFRSF13B, IER3IP1, ADA, CDK5RAP2, NAA10, NDUFAF1, CFTR, MMAA, LRRC8A, MASTL, ASPM, PSAT1, FRAS1, DOCK8, P3H1, MMAB, SBDS, POMT2, EVC2, SPRED1, NDUFA11, SUMF1, CHD7, AARS2, SERAC1, UQCC2, PNPLA1, PDHX, ACAD9, NHLRC1, MPC1, LHX4, COL11A1, COL17A1, COL1A2, COL7A1, COMP, CORO1A, COX15, ABAT, LMBRD1, PDSS2, PNPT1, CPT1A, ETHE1, CPT2, CR2, DOLK, LIPN, GNE, PTF1A, CERS3, CRTAP, GLYCTK, WDR62, MMACHC, CSTB, CTNS, CTPS1, MMADHC, COQ2, CTSD, COQ9, PPM1K, TRMU, ADK, NHEJ1, CYP11B1, CYP11B2, CYP17A1, C12orf65, CYP4F22, JAGN1, FOXRED1, C15orf41, DBT, DDC, ACSF3, NIPAL4, NDUFAF2, D2HGDH, GLIS3, DHCR7, NDUFAF6, NIPBL, MAGT1, DLAT, DLD, CEP290, ADSL, ANKRD26, CEP152, DNA2, GPSM2, GNPTAB, LAMTOR2, SLC52A1, PNPO, SLC46A1, DNAJC19, EDN3, AGA, AGL, EGR2, EIF2AK3, DUOXA2, ABCA3, ELANE, EPB42, COA5, SDHAF1, AGXT, EPM2A, AHCY, ETFA, ETFB, ETFDH, EVC, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH, FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FKTN, FGA, FGB, FGFR2, FGG, FH, ATP8B1, AKAP9, FOXG1, AKR1D1, AKT2, ALAS2, PET100, FUCA1, ALDH3A2, G6PD, SLC37A4, GAA, ALDH5A1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, ALDOB, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, ALMS1, GJB2, GK, GLA, GLB1, ALOX12B, GLDC, GNA11, ALPL, GNAS, GNMT, GP1BA, GP9, GPC3, GSS, GUSB, GYS2, AMT, HADH, HSD17B10, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, ANK1, HLCS, HMGCL, HMGCS2, HNF4A, HPD, HPRT1, HRAS, HSD17B4, HSD3B2, ABCC2, ICOS, IRF8, IGF1, IGF1R, IGLL1, ABCC8, IKBKB, IL12RB1, IL2, IL21R, IL2RA, IL2RG, IL7R, INS, APOC2, INSR, PDX1, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAK3, KCNE1, KCNH2, KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KLF1, KRAS, KRT5, LAMA2, LAMA3, LAMB3, LAMC2, LCK, LHX3, LIG4, LIPA, ARG1, ABCD4, MALT1, MAN2B1, MAP2K1, MAP2K2, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, ARSA, KMT2D, ARSB, MLYCD, ALDH6A1, MOCS1, MOCS2, MTHFR, ASL, MTR, MTRR, MMUT, ASNS, MVK, MYCN, ASPA, ASS1, NDUFA2, NDUFS2, NDUFS4, NDUFS7, NDUFV2, SERPINC1, NEU1, NFKB2, NOTCH2, PNP, NPC1, NR0B1, NRAS, OAT, OGDH, OPA3, OPLAH, OPRM1, OTC, OXCT1, ATP6V1B1, P2RX1, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, ATP7A, ACAD8, ATP7B, PCK1, AIFM1, ALDH7A1, ACADL, PDHA1, PDHB, ATR, PEPD, ATRX, ACADM, AUH, PHGDH, SERPINA1, PIK3CD, ACADS, PKD2, PKHD1, PKLR, PLEC, PLOD1, ACADSB, PMM2, PMP22, PHOX2B, POLG, ACADVL, POMC, POMT1, POU1F1, CTSA, PDP1, ACAT1, PRKAG2, PRKDC, PRODH, PROP1, PROS1, PRPS1, PSAP, PSEN1, PSPH, PTPN11, PTPRC, PTS, QDPR, RAC2, RAF1, RAG1, RAG2, BCKDHA, BCKDHB, RB1, RBBP8, RBM8A, RET Specificity 1 % Genes 50 %
Ichthyoses and related disorders of cornification Panel. By CeGaT GmbH (Germany). SLC27A4, SNAP29, ST14, STS, TAT, TGM1, TGM5, VPS33B, ATP2C1, NSDHL, ALOXE3, WNT10A, SERPINB7, ELOVL4, ABCA12, MBTPS2, SPINK5, CARD14, CDSN, TRPV3 , (...) View the complete list with 44 more genes Panel complete gene list SLC27A4, SNAP29, ST14, STS, TAT, TGM1, TGM5, VPS33B, ATP2C1, NSDHL, ALOXE3, WNT10A, SERPINB7, ELOVL4, ABCA12, MBTPS2, SPINK5, CARD14, CDSN, TRPV3, SLURP1, CLDN1, POMP, SUMF1, KRT6C, RHBDF2, GTF2H5, PNPLA1, ABHD5, LIPN, CERS3, CSTA, CTSC, AAGAB, CYP4F22, NIPAL4, DSG1, DSP, EBP, ENPP1, ERCC2, ERCC3, FLG, ALDH3A2, ALMS1, GJB2, GJB4, GJB6, ALOX12B, AP1S1, JUP, AQP5, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT6A, KRT6B, KRT9, LOR, ATP2A2, PHYH Specificity 2 % Genes 50 %

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Sources and references

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