Disease #05534 (mitochondrial (mitochondrial disorder))

Official abbreviation mitochondrial
Name mitochondrial disorder
OMIM ID -
Inheritance -
Individuals reported having this disease 38
Phenotype entries for this disease 39
Associated with 2 genes MT-ND3, MT-ND6
Associated tissues -
Disease features maternal mitochondrial
Remarks -
Date created 2018-12-22 14:29:23 +01:00 (CET)
Date last edited N/A


Individuals

38 entries on 1 page. Showing entries 1 - 38.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00209013 28771251-Pat16 PubMed: Lionel 2018 - F - Canada - - - - - mitochondrial suspected mitochondrial disorder DLD DLD 1 1 Johan den Dunnen
00209030 28771251-Pat49 PubMed: Lionel 2018 - F - Canada - - - - - mitochondrial suspected mitochondrial disorder MT-ND3 MT-ND3 1 1 Johan den Dunnen
00209040 28771251-Pat90 PubMed: Lionel 2018 - F - Canada - - - - - mitochondrial suspected mitochondrial disorder MT-ATP6 MT-ATP6 1 1 Johan den Dunnen
00209042 28771251-Pat04 PubMed: Lionel 2018 - F - Canada - - - - - mitochondrial Leigh syndrome MT-ND6 - 1 1 Johan den Dunnen
00311803 - - - M no Australia - 00y00m02d - - - mitochondrial neonatal hypertrophic cardiomyopathy encephalopathy severe lactic acidosis Isolated complex IV deficiency COX16 COX16 1 1 Liesbeth T. Wintjes
00328346 - de Boer 2021, submitted - M ? Netherlands - - - - - mitochondrial Severe intellectual disability, brain imaging abnormalities (pachygyria, polymicrogyria, white matter abnormalities, in retrospect signs of stroke on brain CT), spastic tetraparesis, oral dystonia and dystonia of hands and feet, epilepsy, episodic headaches with nausea and emesis, adverse drug reactions, feeding difficulties, secondary microcephaly in childhood, low body weight, drooling, severe progressive neuromuscular scoliosis and congenital hip dysplasia, dental and gingival abnormalities, facial dysmorphisms - MT-TL1 1 1 Elke de Boer
00454645 NGSP91 PubMed: Legati 2016 2-generation family, 1 affected nd affected brother, unaffected heterozygous carrier parents M yes Italy - - - - - mitochondrial pshycomotor delay, microcephaly, hypoacusis, Leigh syndrome - E4F1 1 2 Daniele Ghezzi
00454650 NGSP38 PubMed: Ardisonne 2015, PubMed: Legati 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - mitochondrial see papr; ..., cerebellar ataxia, optic atrophy, hypoacusis, peripheral neuropathy, intellectual disability AIFM1 AIFM1 1 1 Johan den Dunnen
00454696 NGSP36 PubMed: Legati 2016 - F - - - - - - - mitochondrial pshycomotor delay, encephalopathy - NDUFS3 2 1 Daniele Ghezzi
00454697 NGSP109 PubMed: Legati 2016 - M - - - - - - - mitochondrial psycomotor regression, dystonia, leukoencephalopathy - NDUFV1 1 1 Daniele Ghezzi
00454698 NGSP21 PubMed: Legati 2016 - M - - - - - - - mitochondrial myopathy - PDHA1 1 1 Daniele Ghezzi
00454699 NGSP92 PubMed: Ardissone 2016, PubMed: Legati 2016 - M - - - - - - - mitochondrial psycomotor regression, dystonia, leukoencephalopathy - TTC19 1 1 Daniele Ghezzi
00454700 NGSP113 PubMed: Legati 2016 - M - - - - - - - mitochondrial leukoencephalopathy - LYRM7 1 1 Daniele Ghezzi
00454701 NGSP90 PubMed: Legati 2016 - M - - - - - - - mitochondrial pshycomotor delay, respiratory distress, microcephaly, epilepsy, pontocerebellar hypoplasia - RARS2 2 1 Daniele Ghezzi
00454702 NGSP100 PubMed: Legati 2016 - M - - - - - - - mitochondrial ataxia, neuropathy, leukoencephalopathy - DARS2 2 1 Daniele Ghezzi
00454703 NGSP70 PubMed: Legati 2016 - M - - - - - - - mitochondrial pshycomotor delay, respiratory distress, epilepsy, leukoencephalopathy - FBXL4 2 1 Daniele Ghezzi
00454704 NGSP117 PubMed: Legati 2016 - F - - - - - - - mitochondrial cardiomyopathy - TSFM 2 1 Daniele Ghezzi
00454705 NGSP35 PubMed: Legati 2016 - M - - - - - - - mitochondrial cardiomyopathy - MRPL44 2 1 Daniele Ghezzi
00454706 NGSP122 PubMed: Legati 2016 - F - - - - - - - mitochondrial cardiomyopathy - DNAJC19 1 1 Daniele Ghezzi
00454707 NGSP18 PubMed: Legati 2016 - F - - - - - - - mitochondrial pshycomotor delay, dystonia, Leigh syndrome - MTFMT 2 1 Daniele Ghezzi
00454708 NGSP33 PubMed: Legati 2016 - F - - - - - - - mitochondrial Leigh syndrome - DLD 1 1 Daniele Ghezzi
00454709 NGSP31 PubMed: Legati 2016 family, affected female F - - - - - - - mitochondrial pshycomotor delay, hypotonia - PDHA1 1 1 Daniele Ghezzi
00454710 NGSP23 PubMed: Legati 2016 2-generation family, 1 affected, carrier mother M - - - - - - - mitochondrial hypertrophic cardiomyopathy - ACAD9 1 1 Daniele Ghezzi
00454711 NGSP98 PubMed: Legati 2016 2-generation family, affected patient, mother and brother M - - - - - - - mitochondrial myopathy - POLG 1 3 Daniele Ghezzi
00454712 NGSP60 PubMed: Legati 2016 - F - - - - - - - mitochondrial progressive external ophtalmoparesis - POLG 1 1 Daniele Ghezzi
00454713 NGSP1 PubMed: Legati 2016 - M - - - - - - - mitochondrial pshycomotor delay, epileptic encephalopathy - POLG 1 1 Daniele Ghezzi
00454714 NGSP48 PubMed: Legati 2016 - M - - - - - - - mitochondrial pshycomotor delay, epilepsy, leukoencephalopathy - POLG 1 1 Daniele Ghezzi
00454715 NGSP121 PubMed: Legati 2016 - F - - - - - - - mitochondrial psycomotor delay, intellectual disability, ataxia - DNA2 1 1 Daniele Ghezzi
00454716 NGSP66 PubMed: Legati 2016 - F - - - - - - - mitochondrial pshycomotor delay, myopathy - OPA1, PREPL 2 1 Daniele Ghezzi
00454717 NGSP86 PubMed: Legati 2016 - F - - - - - - - mitochondrial pshycomotor delay, cerebellar signs - MFN2 1 1 Daniele Ghezzi
00454718 NGSP67 PubMed: Legati 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes - - - - - - mitochondrial pyramidal signs, intellectual disability, leukoencephalopathy - PC 1 2 Daniele Ghezzi
00454719 NGSP73 PubMed: Legati 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents; reported as compound heterozygous in “COA-X” F yes - - - - - - mitochondrial pshycomotor delay, peripheral neuropathy, cerebellar signs, leukoencephalopathy - NTRK1 1 1 Daniele Ghezzi
00454720 NGSP65 PubMed: Legati 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - mitochondrial psycomotor regression, diabetes, intellectual disability, leukoencephalopathy - CYP2U1 1 1 Daniele Ghezzi
00454721 NGSP110 PubMed: Legati 2016 “affected” mother F - - - - - - - mitochondrial pshycomotor delay, epilepsy - RANBP2 1 1 Daniele Ghezzi
00454722 NGSP47 PubMed: Legati 2016 2-generation family, patient and affected sibling F - - - - - - - mitochondrial respiratory distress, hypotonia - TRMT1 2 2 Daniele Ghezzi
00454723 NGSP49 PubMed: Legati 2016 2-generation family, patient and 2 affected siblings F - - - - - - - mitochondrial psycomotor regression, leukoencephalopathy - ODZ4 2 3 Daniele Ghezzi
00454724 NGSP89 PubMed: Legati 2016 - M - - - - - - - mitochondrial pshycomotor delay, dystonia, Leigh syndrome - GNAO1 2 1 Daniele Ghezzi
00454725 NGSP116 PubMed: Legati 2016 - M yes - - - - - - mitochondrial cardiomyopathy, renal dysfunction - MRS2 1 1 Daniele Ghezzi
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.