Disease #00320 (MTDPS6 (mitochondrial DNA depletion syndrome (hepatocerebral), type 6 (MTDPS-6)), OMIM:256810)

Official abbreviation MTDPS6
Name mitochondrial DNA depletion syndrome (hepatocerebral), type 6 (MTDPS-6)
OMIM ID 256810
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 10
Phenotype entries for this disease 10
Associated with 1 gene MPV17
Associated tissues -
Disease features -
Remarks -
Date created 2014-02-02 21:36:48 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00004533 - Uusimaa 2014, EJHG, 22, 181-191 - - - - - - - - - MTDPS6 - MPV17 MPV17 1 2 Carl Fratter
00080805 - PubMed: Trujillano 2017 unaffected heterozygous carrier mother - - - - - - - - MTDPS6 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type (OMIM:256810) MPV17 MPV17 2 1 Daniel Trujillano
00143674 - - - F yes - - 00y05m - - - MTDPS6 Liver dysfunction Liver failure Hepatomegaly Cholestasis Steatosis Liver cirrhosis Developmental delay Hypotonia Microcephaly Retinopathy Lactic acidemia Hypoglycemia Failure to thrive Feeding difficulties GI dysmotility (GER, recurrent vomiting or diarrhea) MPV17 MPV17 1 1 Hongzheng Dai
00143675 - - - F yes - - - - - - MTDPS6 Liver dysfunction Liver failure Hepatomegaly Cholestasis Steatosis Liver cirrhosis Developmental delay Hypotonia Microcephaly Retinopathy Lactic acidemia Hypoglycemia Failure to thrive Feeding difficulties GI dysmotility (GER, recurrent vomiting or diarrhea) MPV17 MPV17 1 1 Hongzheng Dai
00143676 - - - F - - - - - - - MTDPS6 Liver dysfunction Liver failure Hepatomegaly Cholestasis Developmental delay Hypotonia Microcephaly Lactic acidemia Failure to thrive Feeding difficulties 8% mtDNA in liver MPV17 MPV17 1 1 Hongzheng Dai
00143678 - - - - - - - - - - - MTDPS6 Liver dysfunction Liver failure Hepatomegaly Cholestasis Steatosis Developmental delay Hypotonia Microcephaly Lactic acidemia Hypoglycemia Failure to thrive Feeding difficulties GI dysmotility (GER, recurrent vomiting or diarrhea) 16% mtDNA in liver MPV17 MPV17 1 1 Hongzheng Dai
00143679 - Ayman et al - - - - - - - - - MTDPS6 Liver dysfunction Liver failure Hepatomegaly Cholestasis Developmental delay Hypotonia Microcephaly White matter abnormalities  Basal ganglia abnormal signal Lactic acidemia Failure to thrive Feeding difficulties GI dysmotility (GER, recurrent vomiting or diarrhea) MPV17 MPV17 1 1 Hongzheng Dai
00143680 - - - - - - - - - - - MTDPS6 Liver dysfunction Liver failure Hepatomegaly Cholestasis Steatosis Developmental delay Hypotonia Microcephaly Lactic acidemia Failure to thrive Feeding difficulties GI dysmotility (GER, recurrent vomiting or diarrhea) MPV17 MPV17 1 1 Hongzheng Dai
00143681 - Ayman et al - - - - - - - - - MTDPS6 Liver dysfunction Cholestasis Steatosis Liver cirrhosis Developmental delay Peripheral neuropathy Lactic acidemia Hypoglycemia Failure to thrive Low CI Low CIII 20% mtDNA in liver MPV17 MPV17 1 1 Hongzheng Dai
00143682 - Ayman et al - - - - - - - - - MTDPS6 Liver dysfunction Hepatomegaly Cholestasis Steatosis Developmental delay Lactic acidemia Failure to thrive Feeding difficulties GI dysmotility (GER, recurrent vomiting or diarrhea) Low CI Low CIII Low CIv 3% mtDNA in liver MPV17 MPV17 1 1 Hongzheng Dai
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