Mitochondrial Dna Depletion Syndrome 15 (hepatocerebral Type); Mtdps15

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.

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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.

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.


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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
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
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
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
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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