All individuals with variants in gene MPV17

16 entries on 1 page. Showing entries 1 - 16.
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00004533 - Uusimaa 2014, EJHG, 22, 181-191 - - - ? (unknown) - - 0 - - MTDPS-6 - 1 2 Carl Fratter
00036198 - - - - - Germany - - 0 - - ? hepatic cirrhosis, psychomotor retardation, muscular hypotonia, splenomegaly 1 1 Andreas Laner
00080805 - PubMed: Trujillano 2017 unaffected heterozygous carrier mother - - - - - 0 - - MTDPS-6 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type (OMIM:256810) 2 1 Daniel Trujillano
00143674 - - - F yes - - 00y05m 0 - - MTDPS-6 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) 1 1 Hongzheng Dai
00143675 - - - F yes - - - 0 - - MTDPS-6 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) 1 1 Hongzheng Dai
00143676 - - - F - - - - 0 - - MTDPS-6 Liver dysfunction Liver failure Hepatomegaly Cholestasis Developmental delay Hypotonia Microcephaly Lactic acidemia Failure to thrive Feeding difficulties 8% mtDNA in liver 1 1 Hongzheng Dai
00143678 - - - - - - - - 0 - - MTDPS-6 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 1 1 Hongzheng Dai
00143679 - Ayman et al - - - - - - 0 - - MTDPS-6 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) 1 1 Hongzheng Dai
00143680 - - - - - - - - 0 - - MTDPS-6 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) 1 1 Hongzheng Dai
00143681 - Ayman et al - - - - - - 0 - - MTDPS-6 Liver dysfunction Cholestasis Steatosis Liver cirrhosis Developmental delay Peripheral neuropathy Lactic acidemia Hypoglycemia Failure to thrive Low CI Low CIII 20% mtDNA in liver 1 1 Hongzheng Dai
00143682 - Ayman et al - - - - - - 0 - - MTDPS-6 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 1 1 Hongzheng Dai
00164466 - - - - - - - - 0 - - CMT - 1 1 Jan Senderek
00164467 - - - - - - - - 0 - - CMT - 1 1 Jan Senderek
00288227 Pat37 PubMed: Lee 2019 - - - United States - - 0 - - ? anisocoria, ptosis, photophobia, tinnitus, scoliosis, muscle cramps, limb pain, muscle weakness, skeletal muscle atrophy, difficulty walking, distal lower limb amyotrophy, broad-based gait, sensory neuropathy, impaired vibratory sensation, severe sensorimotor polyneuropathy with predominantty axonal features, gait imbalance, steppage gait, areflexia, impaired proprioception, peripheral demyelination, demyelination around nerves in a muscle biopsy 2 1 Johan den Dunnen
00307447 Fam20PatLP168 PubMed: Stalke 2018 - - - Germany - - 0 - - MTDPS characteristic phenotype (Neonatal cholestasis, failure to thrive, metabolic acidosis) 1 1 Johan den Dunnen
00307457 Fam31PatLP147 PubMed: Stalke 2018 - - - Germany - - 0 - - MTDPS liver cirrhosis, celiac disease, mass. increased alpha‐feto protein 1 1 Johan den Dunnen
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