Spondylometaphyseal Dysplasia, Sedaghatian Type

Table of contents:

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

Description

Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

Genes related to Spondylometaphyseal Dysplasia, Sedaghatian Type

GPX4

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Clinical Features

Top most frequent phenotypes and symptoms related to Spondylometaphyseal Dysplasia, Sedaghatian Type

Seizures
Generalized hypotonia
Muscular hypotonia
Depressed nasal bridge
Brachydactyly
Talipes equinovarus
Short neck
Respiratory insufficiency
Atrial septal defect
Arrhythmia

And another 65 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

Spondylometaphyseal Dysplasia, Sedaghatian Type Is also known as sedaghatian chondrodysplasia, metaphyseal chondrodysplasia, congenital lethal.

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.

Spondylometaphyseal Dysplasia, Sedaghatian Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Spondylometaphyseal dysplasia, Sedaghatian type (sequence analysis of GPX4 gene). By CGC Genetics (Portugal). GPX4 Specificity 100 % Genes 100 %
Spondylometaphyseal dysplasia, Sedaghatian type (sequence analysis of GPX4 gene). By CGC Genetics (Portugal). GPX4 Specificity 100 % Genes 100 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...) View the complete list with 33 more genes Panel complete gene list RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, COMP, TRAPPC2, IMPAD1, DDR2, RSPRY1, PAM16, ACAN, EIF2AK3, RNU4ATAC, FGFR3, FLNB, FN1, GPX4, HSPG2, IDUA, IHH, INPPL1, KIF22, LIFR, MATN3, MMP13, MMP9, NEK1, NPR2, PAPSS2, PCYT1A, B3GAT3, LONP1, NKX3-2, PTH1R Specificity 2 % Genes 100 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel. By Connective Tissue Gene Tests (United States). RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...) View the complete list with 33 more genes Panel complete gene list RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, COMP, TRAPPC2, IMPAD1, DDR2, RSPRY1, PAM16, ACAN, EIF2AK3, RNU4ATAC, FGFR3, FLNB, FN1, GPX4, HSPG2, IDUA, IHH, INPPL1, KIF22, LIFR, MATN3, MMP13, MMP9, NEK1, NPR2, PAPSS2, PCYT1A, B3GAT3, LONP1, NKX3-2, PTH1R Specificity 2 % Genes 100 %
Spondylo-Epi-Metaphyseal dysplasias NGS panel. By Connective Tissue Gene Tests (United States). RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...) View the complete list with 33 more genes Panel complete gene list RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, COMP, TRAPPC2, IMPAD1, DDR2, RSPRY1, PAM16, ACAN, EIF2AK3, RNU4ATAC, FGFR3, FLNB, FN1, GPX4, HSPG2, IDUA, IHH, INPPL1, KIF22, LIFR, MATN3, MMP13, MMP9, NEK1, NPR2, PAPSS2, PCYT1A, B3GAT3, LONP1, NKX3-2, PTH1R Specificity 2 % Genes 100 %
Nuclear-Mito NGS Panel. By Fulgent Genetics Fulgent Genetics (United States). RNASEL, BCS1L, RPL35A, MRPL3, RYR1, RYR2, SACS, ACSM3, SARDH, ATXN7, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCO1, SCO2, SCP2, SDHA, SDHB , (...) View the complete list with 476 more genes Panel complete gene list RNASEL, BCS1L, RPL35A, MRPL3, RYR1, RYR2, SACS, ACSM3, SARDH, ATXN7, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCO1, SCO2, SCP2, SDHA, SDHB, SDHC, SDHD, ACHE, SHMT1, SLC16A1, SLC19A2, SLC22A4, SLC22A5, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC27A4, SLC2A1, SLC3A1, SLC6A8, SPAST, SPG7, SPR, SPTLC2, STAR, CDKL5, SUCLA2, SUCLG1, SUOX, SURF1, ACLY, TAT, TAZ, TSPO, TWNK, TCIRG1, TFAM, ACO2, TIMM8A, TK2, TP53, TPI1, TSFM, TST, TUFM, UBE3A, UCP1, UCP2, UCP3, UNG, UQCRB, UROS, USP24, WFS1, WWOX, AAAS, GFM1, CACNA1A, CACNA1S, CACNA2D1, MRPS16, ELAC2, SLC25A20, HTRA2, SLC25A19, AGXT2, MRPS22, IMMP2L, SIRT1, SIRT3, SIRT5, CASP8, PUS1, LRPPRC, PANK2, NDUFAF5, PAK5, GDAP1, APTX, SUGCT, COX4I2, DNAJC5, NFU1, LIAS, ACSL5, KIF1B, MRPL48, MCEE, NPL, MFN2, TFB1M, MGLL, LARS2, NDUFA13, RRM2B, TIMM44, DTNBP1, AASS, CDC42BPB, AS3MT, MTCH2, SARS2, PDSS1, TXN2, PTGES2, NAGS, TOMM40, TXNRD2, MOCOS, PARL, CLYBL, SPART, LRRK2, PMPCA, ATPAF2, NDUFAF1, CFTR, MMAA, TDP1, CHAT, PACRG, MTO1, MMAB, CHRNA4, CHRNB2, COQ4, CKM, SLC25A22, CYCS, GLRX5, CLCN1, CLCN2, CLCN5, COQ6, CLCN7, CLCNKB, NUBPL, NDUFA11, L2HGDH, TPH2, TPP1, CLN3, CLN5, CLN6, CLN8, AARS2, NDUFAF4, MTHFD1L, RSPH9, FARS2, PDHX, RARS2, ACAD9, DIABLO, CNR1, AGK, COX10, COX15, COX4I1, COX6B1, COX7A2, PEX26, ABAT, PDSS2, CPOX, CPT1A, ETHE1, CPT1B, CPT2, NIPSNAP3A, MED23, NDUFA12, CISD2, GLYCTK, YARS2, SLC25A39, TACO1, BOLA3, DMGDH, MMACHC, RAB11FIP5, MOGS, GPAM, MARS2, HOGA1, MMADHC, COQ2, CTSD, COQ9, TMEM126A, TRMU, DMAC2, MTPAP, DARS2, CYB5A, CYBA, CYBB, REEP1, CYP11A1, CYP11B1, CYP11B2, TTC19, CYP24A1, SDHAF2, CYP27A1, TMEM70, SLC25A38, CYP27B1, NARS2, C12orf65, FOXRED1, DBT, PARP1, ECI1, DDAH1, DDC, ACSF3, DECR1, XPNPEP3, NDUFAF2, COX14, D2HGDH, MFSD8, DGUOK, NDUFAF6, DHODH, COQ5, CYB5R3, DISC1, DLAT, DLD, ADSL, FASTKD2, ANKRD26, MAVS, DMPK, EARS2, ECSIT, UQCRQ, MTFMT, DNM1L, TOP1MT, ISCU, NLRX1, NDUFAF3, PPARGC1B, PREPL, DNAJC19, SECISBP2, TYMP, AFG3L2, ARMS2, AGPS, ELN, ENO1, ENO3, COA5, SDHAF1, AGXT, ETFA, ETFB, ETFDH, FAAH, ACSL4, FASN, FBP1, AK2, FECH, AKAP10, FH, ATP8B1, FOLR1, FOXC1, FOXG1, FPGS, AKR7A2, AKT1, AKT2, FXN, ALAS2, FTH1, ALDH3A2, G6PC, G6PD, ALDH4A1, ALDH5A1, GAD1, GAD2, GALC, GARS, GATM, GCDH, GCK, GCSH, GFER, GK, TAP1, GLDC, GLO1, GLRA1, GLS, GLUD1, GNAS, GNPAT, GPD1, GPD2, GPI, AMACR, GPX1, GPX4, ABCB6, GYS1, GYS2, AMT, H6PD, HADH, ABCB7, HSD17B10, HADHA, HADHB, HARS, HARS2, HCCS, HTT, HIBCH, HK1, HK2, ANK2, HLCS, HMGCL, HMGCS2, HSD17B4, HSD3B1, HSD3B2, HSPA9, HSPB7, HSPD1, IDE, IDH1, IDH2, IDH3B, ABCC8, ABCC9, IMMT, INSR, ABCD1, PDX1, IVD, KARS, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ11, KCNJ2, KCNQ1, KCNQ2, KCNQ3, KRT5, KYNU, LDHA, LDHB, LETM1, ABCD3, MAOA, MAOB, MCCC1, MCCC2, MDH1, MECP2, MEN1, MGST3, MLYCD, ALDH6A1, MOCS1, MOCS2, MRRF, MTHFD1, MTHFS, MTRR, MMUT, MUTYH, ASS1, NDUFA1, NDUFA10, NDUFA2, NDUFA4, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFB1, NDUFB3, NDUFB6, NDUFB9, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NIPSNAP1, NME1, ATIC, NRXN1, NTHL1, OAT, OGG1, OPA1, OPA3, ATP5F1E, ACACA, ACACB, OTC, OXCT1, PAH, PRKN, PC, PCCA, PCCB, ACAD8, ATP7B, PCK1, PCK2, AIFM1, ALDH7A1, ACADL, PDHA1, PDHB, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PGAM2, PGK1, ACADM, AUH, PHB, PHYH, ACADS, PKLR, ACADSB, PNKD, PNMT, POLG, POLG2, ACADVL, POLRMT, PPARGC1A, PDP1, PPOX, ACAT1, PPT1, ACAT2, PRODH, BAX, PTS, PEX19, PEX2, PEX5, PYCR1, ALDH18A1, QDPR, BCAT1, BCAT2, BCKDHA, BCKDHB Specificity 1 % Genes 100 %
GPX4. By Fulgent Genetics Fulgent Genetics (United States). GPX4 Specificity 100 % Genes 100 %

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Sources and references

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