Mitochondrial Dna Depletion Syndrome 15 (hepatocerebral Type); Mtdps15

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 Mitochondrial Dna Depletion Syndrome 15 (hepatocerebral Type); Mtdps15

TFAM

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Dna Depletion Syndrome 15 (hepatocerebral Type); Mtdps15

Growth delay
Failure to thrive
Intrauterine growth retardation
Jaundice
Hypoglycemia
Elevated hepatic transaminase
Abnormality of the liver
Cirrhosis
Hepatic failure
Hepatic steatosis

And another 7 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.

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.

Mitochondrial Dna Depletion Syndrome 15 (hepatocerebral Type); Mtdps15 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mitochondrial Depletion Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SLC25A4, SPG7, SUCLA2, SUCLG1, TWNK, TFAM, TK2, FBXL4, APTX, MGME1, MFN2, RRM2B, AGK, ABAT, DGUOK, DNA2, TYMP, GFER, MPV17, OPA1 , (...) View the complete list with 3 more genes Panel complete gene list SLC25A4, SPG7, SUCLA2, SUCLG1, TWNK, TFAM, TK2, FBXL4, APTX, MGME1, MFN2, RRM2B, AGK, ABAT, DGUOK, DNA2, TYMP, GFER, MPV17, OPA1, OPA3, POLG, POLG2 Specificity 5 % Genes 100 %
Comprehensive Mitochondrial Metabolic Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...) View the complete list with 173 more genes Panel complete gene list BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A, TK2, TSFM, TUFM, UQCRB, LPIN1, GFM1, MRPS16, SLC25A20, SLC25A19, MRPS22, PUS1, LRPPRC, NDUFAF5, COX4I2, COQ8A, TFB1M, LARS2, NDUFA13, RRM2B, SARS2, PDSS1, NAGS, ATPAF2, NDUFAF1, MMAA, MMAB, NUBPL, NDUFA11, AARS2, NDUFAF4, FARS2, PDHX, RARS2, ACAD9, COX10, COX15, COX4I1, COX6B1, COX7A1, LMBRD1, PDSS2, CPT1A, ETHE1, CPT1B, CPT2, YARS2, TACO1, MMACHC, MARS2, MMADHC, COQ2, COQ9, TRMU, DARS2, TTC19, SDHAF2, TMEM70, NARS2, C12orf65, FOXRED1, NDUFAF2, DGUOK, DLAT, DLD, FASTKD2, UQCRQ, MTFMT, ISCU, NDUFAF3, TYMP, AGL, SDHAF1, ETFA, ETFB, ETFDH, G6PC, SLC37A4, GAA, GBE1, GYS1, GYS2, HADHA, HADHB, HLCS, IVD, KARS, ARG1, MCCC1, MCCC2, MPI, MPV17, MRRF, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MTRR, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MMUT, NDUFA1, NDUFA10, NDUFA2, NDUFA7, NDUFA8, NDUFB6, NDUFS1, NDUFS2, NDUFS3, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV3, OPA1, OPA3, ATP5F1E, ACACA, ACACB, OTC, PC, PCCA, PCCB, ACADL, PDHA1, PDHB, PFKM, PGAM2, ACADM, AUH, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PMM2, POLG, POLG2, ACADVL, PDP1, ACAT1, PYGL, PYGM Specificity 1 % 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 %
TFAM. By Fulgent Genetics Fulgent Genetics (United States). TFAM Specificity 100 % Genes 100 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test. By National Taiwan University Hospital A1 Center National Taiwan University Hospital (Taiwan). BCS1L, SCO1, SLC10A1, SLC40A1, SLCO1A2, SLCO1B1, SLCO1B3, SLCO2B1, SLC25A13, SUCLG1, TWNK, HNF1B, TFAM, TFR2, TJP2, UGT1A1, VPS33B, NPC2, HAMP, CD14 , (...) View the complete list with 53 more genes Panel complete gene list BCS1L, SCO1, SLC10A1, SLC40A1, SLCO1A2, SLCO1B1, SLCO1B3, SLCO2B1, SLC25A13, SUCLG1, TWNK, HNF1B, TFAM, TFR2, TJP2, UGT1A1, VPS33B, NPC2, HAMP, CD14, RRM2B, INVS, DCDC2, HSD3B7, CFTR, CLDN1, SEC63, COPA, CYP27A1, CYP7A1, CYP7B1, CHMP5, DGUOK, SLC51A, SLC51B, EPHX1, FGF19, ATP8B1, FOXM1, AKR1D1, FTL, ABCB1, G6PD, ABCB11, ABCB4, AMACR, HBA1, HBA2, HBB, HFE, HJV, HES1, ABCC2, ABCC3, ABCC4, JAG1, LIPA, MPV17, ASL, ASS1, MYO5B, NOTCH2, NPC1, NR1H4, ONECUT1, ATP7B, SERPINA1, PKD1, PKD2, PKHD1, POLG, BAAT, PRKCSH Specificity 2 % Genes 100 %

You can get up to -3 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like STARGARDT DISEASE 4; STGD4 METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED ALBINISM, OCULOCUTANEOUS, TYPE VI; OCA6 ADAMS-OLIVER SYNDROME 5; AOS5 COXOPODOPATELLAR SYNDROME MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS