All individuals with variants in gene MPV17

25 entries on 1 page. Showing entries 1 - 25.
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00004533 - Uusimaa 2014, EJHG, 22, 181-191 - - - - - - - - - MTDPS6 - 1 2 Carl Fratter
00036198 - - - - - Germany - - - - - ? hepatic cirrhosis, psychomotor retardation, muscular hypotonia, splenomegaly 1 1 Andreas Laner
00080805 - PubMed: Trujillano 2017 unaffected heterozygous carrier mother - - - - - - - - MTDPS6 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type (OMIM:256810) 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) 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) 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 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 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) 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) 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 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 1 1 Hongzheng Dai
00164466 - - - - - - - - - - - CMT - 1 1 Jan Senderek
00164467 - - - - - - - - - - - CMT - 1 1 Jan Senderek
00288227 Pat37 PubMed: Lee 2019 - - - United States - - - - - ? 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 - - - - - MTDPS characteristic phenotype (Neonatal cholestasis, failure to thrive, metabolic acidosis) 1 1 Johan den Dunnen
00307457 Fam31PatLP147 PubMed: Stalke 2018 - - - Germany - - - - - MTDPS liver cirrhosis, celiac disease, mass. increased alpha‐feto protein 1 1 Johan den Dunnen
00396023 FM-01 PubMed: Ababneh 2021 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M yes Jordan - - - - - NMD see paper; ... 1 2 Johan den Dunnen
00403633 Fam2Pat1 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents - F yes Egypt - - - - - CMT normal pregnancy and delivery, normal developmental milestones; 6y-progressive distal weakness, wasting of both LL and UL; 8y-progressive trophic changes in form of frequent ulceration sole feet with frequent burning injuries in hands during doing household duties due to insensitivity to pain; sensory loss distal parts limbs taking glove and stock distribution; walks without support; bilateral pes cavus, hammer toes, tropic changes hands and feet; scoliosis, distal hypotonia around ankles and toes; muscle power around toes and ankle dorsiflexion grade 2; weak hand grip grade 4; motor power around elbow, shoulders, knees and hips grade; bilateral loss deep reflexes ULs and LLs, lost abdominal reflexes, bilateral planter flexion, stocking and glove hypoesthesia, impaired deep sensation both LLs; no electrical motor and sensory response distally both LLs; no electrical sensory response distally both ULs; normal electrical motor response distally both ULs 1 3 Sherifa Ahmed Hamed
00403693 Fam3Pat1 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents - F yes Egypt - - - - - CMT normal pregnancy and delivery, normal developmental milestones; 12y-progressive distal weakness both upper and lower limbs, wasting muscles hands and feet; 13y-decreased sensation distal parts limbs; frequent trauma feet due to insensitivity to pain; suggestive autonomic manifestation frequent swelling of feet; 14y-foot deformity, high arched; walks with mild support; bilateral pes cavus; muscle wasting small muscles hands, anterior tibial group, dorsal feet muscles; distal hypotonia around wrist, fingers, ankles, toe; muscle power hand grip grade 3-4; dorsiflexors toes and ankles grade 0, planter flexors of toes and ankles grade 0-1, knee and hip flexors and extensors grade 4; bilateral loss deep reflexes ULs and LLs; lost abdominal reflexes, no response planter bilaterally, stocking and glove hypothesia, lost deep sensation both LLs; positive Romberg’s sign; thickened peroneal nerves bilterally; no electrical response distally from LLs, axonal neuropathy upper limbs 1 2 Sherifa Ahmed Hamed
00403694 FamPat1 2-generation family, affected brother/sister, unaffected heterozygous carrier parents - M yes Egypt - - - - - CMT uneventful pregnancy and delivery; normal developmental milestones; 4y-progressive distal weakness, wasting of LT LL, foot inversion, foot drop with deformity; developed progressive distal weakness, wasting ULs and LLs, progressive diminished sensation ULs and LLs (stocking, glove distribution), marked imbalance occurs in dim vision, attacks of palpitation; no cranial nerve affection, no sphincteric disturbance; walks support, wears foot brace; bilateral flexion deformities of fingers, bilateral foot drop, flexion deformities feet, high arched feet (equinous deformities, trophic ulcerations), bilateral wasting both ULs and LLs (distal and proximal), fingers, hand grips, toes, ankles (grade 0); normal muscle power around knees, hips, shoulders; bilateral lost deep reflexes ULs and LLs; no planter response, long stocking and glove hypoesthesia; impaired deep sensation both LLs; severe axonal neuropathy with secondary demyelination 1 2 Sherifa Ahmed Hamed
00403695 FamPat2 - sister F yes Egypt - - - - - CMT phenotype similar to brother; 12y-walks without support 1 1 Sherifa Ahmed Hamed
00403749 Fam2Pat2 - sister F yes Egypt - - - - - CMT normal pregnancy and delivery, normal developmental milestones; 6y-progressive distal weakness, wasting both LL and UL; 10y-progressive feet deformity, sensory loss distal parts limbs taking glove and stock distribution; walks without support; Charcot joints, bilateral pes cavus (not correctable), hammer toes, tropic changes hands and feet, distal hypotonia around ankles and toes; muscle power around toes and ankle dorsiflexion is grade 2; weak hand grip grade 4; motor power around elbow, shoulders, knees and hips grade 5; bilateral loss deep reflexes ULs and LLs, lost abdominal reflexes, bilateral planter flexion, stocking and glove hypoesthesia, Impaired deep sensation both LLs; no electrical motor and sensory response distally both LLs; no electrical sensory response distally both ULs; normal electrical motor response distally both ULs. 1 1 Sherifa Ahmed Hamed
00403750 Fam2Pat3 - brother M yes Egypt - - - - - CMT normal pregnancy and delivery, normal developmental milestones; 8y-progressive trophic changes feet in form of frequent ulceration sole feet; sensory loss distal parts limbs; frequent ulcer surgeries, 9y6m-osteomyelitis; no distal muscle weakness; walks without support; bilateral pes cavus, hammer toes, tropic changes feet, clubbing fingers, hyperextension fingers, distal hypotonia around ankles and toes; normal muscle power upper and lower limbs, bilateral loss deep reflexes ULs and LLs, lost abdominal reflexes, bilateral planter flexion, stocking hypoesthesia, impaired deep sensation both LLs; no electrical motor and sensory response distally both LLs; no electrical sensory response distally both ULs; normal electrical motor response distally both ULs 1 1 Sherifa Ahmed Hamed
00403759 Fam3Pat2 - sister F yes Egypt - - - - - CMT normal pregnancy and delivery, normal developmental milestones; 11y-progressive distal weakness both upper and lower limbs, pain distal parts limbs involving toes and fingers; 12y-toe deformity, hammer toes; walks without support; bilateral pes cavus; muscle wasting small muscles hands, anterior tibial group, dorsal feet muscles; distal hypotonia around wrist, fingers, ankles, toes; normal muscle power both upper limbs; dorsiflexors toes and ankles grade 0, planter flexors toes and ankles grade 2-3; bilateral loss deep reflexes ULs and LLs; lost abdominal reflexes, bilateral planter no response, stocking and glove hypothesia, lost vibration both LLs. 1 1 Sherifa Ahmed Hamed
00457805 patient - - M - China - - - - - ? 3m-yellow sclera, chronic disease, physical examination: moderate yellow sclera, liver rib 2cm, medium texture; laboratory examination indicated: liver enzymes, elevated bilirubin, coagulation dysfunction, hypoglycemia, hypoproteinemia, hyperlactaemia. Fresh frozen plasma, prothrombin complex, and cryoprecipitate treatment showed poor improvement in coagulation function, repeated hypoglycemia, separation of liver function bile enzymes, and gastrointestinal manifestations such as diarrhea and feeding difficulties 1 1 Shiying Liu
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