Even-plus Syndrome

Table of contents:

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

Description

EVEN-PLUS syndrome is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome ({600373}; Royer-Bertrand et al., 2015).

Genes related to Even-plus Syndrome

HSPA9

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Clinical Features

Top most frequent phenotypes and symptoms related to Even-plus Syndrome

Intellectual disability
Global developmental delay
Short stature
Generalized hypotonia
Growth delay
Abnormal facial shape
High palate
Depressed nasal bridge
Anteverted nares
Short neck

And another 41 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

Even-plus Syndrome Is also known as epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome, epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations.

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.

Even-plus Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive mitochondrial disorders panel. By Centogene AG - the Rare Disease Company (Germany). RNASEL, BCS1L, MRPL3, SARDH, SCO1, SCO2, SCP2, SDHA, SDHB, SDHC, SDHD, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC9A6, SOD2, SPG7, STAR , (...) View the complete list with 156 more genes Panel complete gene list RNASEL, BCS1L, MRPL3, SARDH, SCO1, SCO2, SCP2, SDHA, SDHB, SDHC, SDHD, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC9A6, SOD2, SPG7, STAR, SUCLA2, SUCLG1, SUOX, SURF1, TWNK, ACO2, TIMM8A, TK2, TSFM, TUFM, UNG, UQCRB, GFM1, MRPS16, SLC25A20, HTRA2, SLC25A19, MRPS22, PINK1, PANK2, COX4I2, PARK7, LIAS, KIF1B, MCEE, MFN2, HAX1, LARS2, TIMM44, AASS, SARS2, TMLHE, ATPAF2, NDUFAF1, MMAA, MMAB, SLC25A22, CYCS, NDUFA11, BRIP1, PDHX, ACAD9, DIABLO, AGK, COX10, COX15, COX6B1, ABAT, CPOX, CPT1A, CPT2, DMGDH, COQ2, TRMU, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, DBT, DGUOK, DHODH, DLAT, DLD, CRBN, AFG3L2, AGXT, ETFA, ETFB, ETFDH, ACSL4, AK2, FECH, FH, FXN, ALAS2, ALDH4A1, ALDH5A1, GATM, GCDH, GCSH, GK, GLDC, GLUD1, AMACR, ABCB6, AMT, HADH, ABCB7, HADHA, HADHB, HK1, HLCS, HMGCL, HMGCS2, HSD3B2, HSPA9, HSPD1, IDH2, IDH3B, PDX1, IVD, MAOA, MCCC1, MCCC2, MIP, MLYCD, ALDH6A1, MTRR, MMUT, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OAT, OGG1, OPA1, OPA3, ATP5F1E, OTC, OXCT1, PC, PCCA, PCCB, ACAD8, ATP7B, PCK2, PDHA1, PDHB, ACADM, AUH, ACADS, ACADSB, POLG, POLG2, ACADVL, PDP1, PPOX, ACAT1, PRODH, CAVIN1, ALDH18A1, BCKDHA, BCKDHB Specificity 1 % Genes 100 %
Hereditary Sideroblastic Anemia. By Asper Biogene Asper Biogene LLC (Estonia). SLC19A2, PUS1, TRNT1, GLRX5, YARS2, SLC25A38, ALAS2, ABCB7, HSPA9 Specificity 12 % Genes 100 %
NGS Panel for Congenital and Acquired Sideroblastic Anemia. By BLOODGENETICS BLOODGENETICS (Spain). SF3B1, SLC19A2, PUS1, LARS2, TRNT1, GLRX5, NDUFB11, YARS2, STEAP3, SLC25A38, ALAS2, ABCB7, HSPA9 Specificity 8 % 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 %
HSPA9. By Fulgent Genetics Fulgent Genetics (United States). HSPA9 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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