Linear Skin Defects With Multiple Congenital Anomalies 2; Lsdmca2

Table of contents:

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

Genes related to Linear Skin Defects With Multiple Congenital Anomalies 2; Lsdmca2

COX7B

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Clinical Features

Top most frequent phenotypes and symptoms related to Linear Skin Defects With Multiple Congenital Anomalies 2; Lsdmca2

Global developmental delay
Short stature
Microcephaly
Growth delay
Hypertelorism
Abnormal facial shape
Visual impairment
Hypertension
Myopia
Talipes equinovarus

And another 28 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Linear Skin Defects With Multiple Congenital Anomalies 2; Lsdmca2 Is also known as aplcc, aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies.

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.

Linear Skin Defects With Multiple Congenital Anomalies 2; Lsdmca2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection. By PreventionGenetics PreventionGenetics (United States). BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB , (...) View the complete list with 154 more genes Panel complete gene list BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB, UQCRC2, FBXL4, GFM1, MRPS16, ELAC2, MRPS7, MRPS22, MRPS23, GTPBP3, PUS1, LRPPRC, NDUFAF5, APTX, SFXN4, MGME1, SLC19A3, NFU1, LIAS, MRPL44, COQ8A, MFN2, LARS2, NDUFA13, RRM2B, TPK1, SARS2, PDSS1, COA6, RNASEH1, ATPAF2, NDUFAF1, COQ8B, MTO1, COQ4, ISCA2, COQ6, NUBPL, TRIT1, NDUFA11, NDUFB11, APOPT1, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, UQCC2, PDHX, LYRM4, RARS2, ACAD9, VARS2, AGK, COQ7, COX10, COX15, COX6A1, COX6B1, COX7B, COX8A, PDSS2, TRMT5, PNPT1, ETHE1, NDUFA12, YARS2, TACO1, BOLA3, FLAD1, COA3, MARS2, COQ2, COQ9, TRMU, MTPAP, DARS2, CARS2, COA7, CYC1, TTC19, TRMT10C, TMEM70, NSUN3, NARS2, C12orf65, FOXRED1, COX20, IBA57, LYRM7, NDUFAF2, COX14, DGUOK, NDUFAF6, COQ5, DLAT, DLD, FASTKD2, DNA2, EARS2, LIPT1, UQCRQ, MTFMT, GFM2, IARS2, ISCU, NDUFAF3, PARS2, TARS2, TMEM126B, TYMP, AFG3L2, ECHS1, COA5, SDHAF1, UQCC3, ETFA, ETFB, ETFDH, PET100, GARS, GFER, HADHA, HADHB, HARS2, HIBCH, KARS, MPV17, NDUFA1, NDUFA10, NDUFA2, NDUFA4, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, OPA1, OPA3, ATP5F1A, ATP5F1E, AIFM1, PDHA1, PDHB, POLG, POLG2, PDP1 Specificity 1 % Genes 100 %
Nuclear encoded Mitochondriopathies Panel. By CeGaT GmbH (Germany). RMRP, BCS1L, MRPL3, SACS, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC6A8, BTD , (...) View the complete list with 260 more genes Panel complete gene list RMRP, BCS1L, MRPL3, SACS, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC6A8, BTD, ATL1, SPAST, SPG7, STAR, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, ACO2, TIMM8A, TK2, TSFM, TUFM, UNG, UQCRB, UQCRC2, WFS1, WWOX, YWHAE, GFM1, MRPS16, ELAC2, SLC25A20, HTRA2, SLC25A19, MRPS22, PINK1, PUS1, CHCHD10, LRPPRC, PANK2, NDUFAF5, SAMHD1, GDAP1, APTX, SFXN4, MGME1, COX4I2, SLC19A3, NFU1, PARK7, LIAS, KIF1B, MRPL44, MCEE, COQ8A, MFN2, LARS2, RRM2B, TPK1, SARS2, PDSS1, NAGS, SPART, ATPAF2, NDUFAF1, MMAA, COQ8B, MTO1, MMAB, DDHD1, SLC25A22, CYCS, GLRX5, COQ6, NUBPL, NDUFA11, L2HGDH, CLPP, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, PDHX, LYRM4, RARS2, ACAD9, DIABLO, MPC1, AGK, COX10, COX15, COX6B1, COX7B, PDSS2, PNPT1, CPT1A, ETHE1, CPT2, CRAT, NDUFA12, CISD2, YARS2, TACO1, BOLA3, DMGDH, MARS2, HOGA1, MMADHC, COQ2, COQ9, TMEM126A, TRMU, MTPAP, DARS2, REEP1, CYC1, CEP89, TTC19, SDHAF2, CYP27A1, TMEM70, SLC25A38, C12orf65, FOXRED1, COX20, DBT, IBA57, DECR1, XPNPEP3, NDUFAF2, COX14, D2HGDH, DGUOK, NDUFAF6, DHODH, CYB5R3, DLAT, DLD, FASTKD2, DNA2, EARS2, UQCRQ, MTFMT, DNM1L, ISCU, NDUFAF3, COASY, DNAJC19, FDX2, PNPLA2, TYMP, AFG3L2, COA5, SDHAF1, ERCC6, ETFA, ETFB, ETFDH, FBP1, AK2, FH, FXN, ALAS2, PET100, ALDH4A1, GAMT, GARS, GATM, GCDH, GCK, GCSH, GFER, GK, GLDC, GLUD1, AMACR, AMT, HADH, ABCB7, HSD17B10, HADHA, HADHB, HARS2, HCCS, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HSPD1, IDH1, IDH2, IDH3B, IVD, KARS, KIF5A, MAOA, MCCC1, MCCC2, MLYCD, ALDH6A1, MPV17, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TL1, MT-TL2, MT-TS1, MT-TS2, MMUT, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OAT, OGDH, OPA1, OPA3, ATP5F1A, ATP5F1E, OTC, OXCT1, PRKN, PC, PCCA, PCCB, ACAD8, PCK2, AIFM1, PDHA1, PDHB, PDK3, ACADM, AUH, ACADS, ACADSB, PNKD, POLG, POLG2, ACADVL, PDP1, PPOX, ACAT1, SLC33A1, BCAT2, BCKDHA, BCKDHB Specificity 1 % Genes 100 %
Developmental Eye Disease panel. By Molecular Vision Laboratory (United States). BMP4, SHH, SIX3, SIX6, SLC25A1, SNX3, SOX2, SOX3, ELP4, VAX1, ATOH7, RAB18, ZEB2, CASK, RAB3GAP1, RAB3GAP2, FKRP, MFRP, RAX, NAA10 , (...) View the complete list with 39 more genes Panel complete gene list BMP4, SHH, SIX3, SIX6, SLC25A1, SNX3, SOX2, SOX3, ELP4, VAX1, ATOH7, RAB18, ZEB2, CASK, RAB3GAP1, RAB3GAP2, FKRP, MFRP, RAX, NAA10, POMT2, VSX2, B3GLCT, DCDC1, CHD7, BCOR, COL4A1, COX7B, CRX, TMEM98, CYP1B1, C12orf57, TENM3, STRA6, FKTN, ISPD, FOXC1, FOXC2, FOXE3, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6, HESX1, HMGB3, HMX1, LAMB2, LARGE1, LHX2, MAB21L2, NDP, OTX2, PAX2, PAX6, PITX2, PITX3, POMT1, RARB Specificity 2 % Genes 100 %
COX7B. By Fulgent Genetics Fulgent Genetics (United States). COX7B Specificity 100 % Genes 100 %
X-chromosome High Resolution microarray analysis. By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center (United States). RP2, RPGR, RPL10, RPS6KA3, RS1, SAT1, SH2D1A, SHOX, SLC16A2, SLC35A2, SLC6A14, SLC6A8, SLC9A6, KDM5C, SMPX, SMS, SOX3, SRY, BTK, CDKL5 , (...) View the complete list with 140 more genes Panel complete gene list RP2, RPGR, RPL10, RPS6KA3, RS1, SAT1, SH2D1A, SHOX, SLC16A2, SLC35A2, SLC6A14, SLC6A8, SLC9A6, KDM5C, SMPX, SMS, SOX3, SRY, BTK, CDKL5, STS, SYN1, SYP, TAF1, TAZ, SERPINA7, TBX22, TIMM8A, TSPAN7, MED12, UBA1, UBE2A, UBQLN2, KDM6A, WAS, XK, ZIC3, ZNF41, ZNF711, ZNF81, FTSJ1, HDAC8, NSDHL, CACNA1F, PCDH19, NLGN4X, NLGN3, ARHGEF9, CASK, MBTPS2, RAB39B, BRWD3, ZNF674, PORCN, ARX, PHF6, ATP6AP2, TMLHE, ZDHHC9, NAA10, CHM, GPR143, CLCN5, ZDHHC15, UPF3B, CLIC2, PHF8, BCOR, COL4A5, VMA21, COX7B, TRAPPC2, CSF2RA, ZC4H2, RAB40AL, OFD1, MAMLD1, CYBB, AMER1, DCX, CCNQ, MAGT1, DKC1, WDR45, DLG3, SHROOM4, DMD, CHRDL1, SRPX2, ALG13, EBP, EDA, EFNB1, EMD, AGTR2, F8, F9, ACSL4, FANCB, FHL1, FLNA, AFF2, ALAS2, G6PD, GATA1, OPN1MW, GDI1, GJB1, GK, GLA, GRIA3, AMELX, ABCB7, HSD17B10, HCCS, HCFC1, HPRT1, IDS, IGBP1, AP1S2, XIAP, IGSF1, IKBKG, IL1RAPL1, IL2RG, ABCD1, ANOS1, AR, L1CAM, LAMP2, MAOA, ARHGEF6, MECP2, MID1, ARSE, MTM1, NDP, NHS, NR0B1, OCRL, OPHN1, ATP2B3, OTC, PAK3, ATP7A, AIFM1, PDHA1, ATRX, CFP, PGK1, PHKA1, PHKA2, PIGA, AVPR2, PLP1, POLA1, POU3F4, PQBP1, PRPS1, RBM10 Specificity 1 % Genes 100 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel. By Blueprint Genetics (Finland). BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TFAP2A, ZIC2, PXDN, RAB3GAP1, ADAMTS18, MFRP, RAX, NAA10, GRIP1, FRAS1, VSX2, SMOC1, CHD7 , (...) View the complete list with 34 more genes Panel complete gene list BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TFAP2A, ZIC2, PXDN, RAB3GAP1, ADAMTS18, MFRP, RAX, NAA10, GRIP1, FRAS1, VSX2, SMOC1, CHD7, BCOR, VPS13B, COL4A1, COX7B, FREM1, FREM2, CYP1B1, SMCHD1, TENM3, STRA6, SLC38A8, ERCC2, ERCC5, ERCC6, FOXC1, FOXE3, PRSS56, ALDH1A3, GJA1, ABCB6, HCCS, HESX1, HMX1, MAB21L2, MITF, NDP, OCRL, OTX2, PAX2, PAX6, PITX2, PQBP1, RARB, RBP4 Specificity 2 % Genes 100 %
ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL. By Laboratorio de Genetica Clinica SL (Spain). SALL1, SALL2, BMP4, SHH, SIX6, SOX2, PXDN, MFRP, RAX, NAA10, VSX2, SMOC1, BCOR, COX7B, CRYBA4, C12orf57, TENM3, STRA6, PRSS56, ALDH1A3 , (...) View the complete list with 9 more genes Panel complete gene list SALL1, SALL2, BMP4, SHH, SIX6, SOX2, PXDN, MFRP, RAX, NAA10, VSX2, SMOC1, BCOR, COX7B, CRYBA4, C12orf57, TENM3, STRA6, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6, HCCS, MAB21L2, OTX2, PAX2, PAX6, RARB Specificity 4 % Genes 100 %

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Sources and references

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