MCID: MTC183
MIFTS: 12

Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

MalaCards integrated aliases for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies:

Name: Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies 58 6
Mitochondrial Oxidative Phosphorylation Disorder Due to Ndna Anomalies 58
Oxphos Disease Due to Nuclear Dna Anomalies 58
Oxphos Disease Due to Ndna Anomalies 58

Characteristics:

Orphanet epidemiological data:

58
mitochondrial oxidative phosphorylation disorder due to nuclear dna anomalies
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Orphanet 58 ORPHA2443

Summaries for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

MalaCards based summary : Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies, is also known as mitochondrial oxidative phosphorylation disorder due to ndna anomalies. An important gene associated with Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies is GFM1 (G Elongation Factor Mitochondrial 1).

Related Diseases for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

Symptoms & Phenotypes for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

Drugs & Therapeutics for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

Search Clinical Trials , NIH Clinical Center for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies

Genetic Tests for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

Anatomical Context for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

Publications for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

Articles related to Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies:

# Title Authors PMID Year
1
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. 6
28216230 2017

Variations for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

ClinVar genetic disease variations for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies:

6 (show top 50) (show all 117)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GFM1 NM_024996.5(GFM1):c.689+908G>A SNV Likely pathogenic 509754 rs751069628 3:158367854-158367854 3:158650065-158650065
2 GFM1 NM_024996.5(GFM1):c.748C>T (p.Arg250Trp) SNV Likely pathogenic 30598 rs139430866 3:158369943-158369943 3:158652154-158652154
3 MTRFR NM_152269.5(MTRFR):c.*14del Deletion Uncertain significance 307498 rs886049040 12:123741592-123741592 12:123257045-123257045
4 RAB33A NM_004208.4(AIFM1):c.1643C>T (p.Pro548Leu) SNV Uncertain significance 411665 rs750418813 X:129264072-129264072 X:130130097-130130097
5 RAB33A NM_004208.4(AIFM1):c.952G>A (p.Ala318Thr) SNV Uncertain significance 594797 rs773680831 X:129272583-129272583 X:130138608-130138608
6 RAB33A NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) SNV Uncertain significance 214082 rs752742151 X:129281749-129281749 X:130147774-130147774
7 AARS2 NM_020745.4(AARS2):c.1534G>C (p.Asp512His) SNV Uncertain significance 357070 rs146512155 6:44272836-44272836 6:44305099-44305099
8 TUFM NM_003321.4(TUFM):c.-81G>C SNV Uncertain significance 318761 rs573249163 16:28857671-28857671 16:28846350-28846350
9 TUFM NM_003321.4(TUFM):c.-128G>C SNV Uncertain significance 318762 rs555362028 16:28857718-28857718 16:28846397-28846397
10 COPB2 NM_020191.4(MRPS22):c.987+15del Deletion Uncertain significance 343491 rs372892045 3:139074639-139074639 3:139355797-139355797
11 RAB33A NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) SNV Uncertain significance 214080 rs781350745 X:129271081-129271081 X:130137106-130137106
12 RAB33A NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys) SNV Uncertain significance 372555 rs1057517852 X:129264118-129264118 X:130130143-130130143
13 MTRFR NM_152269.5(MTRFR):c.*702_*705CAGT[1] Microsatellite Uncertain significance 307511 rs886049046 12:123742280-123742283 12:123257733-123257736
14 RAB33A NM_004208.4(AIFM1):c.1627A>G (p.Ile543Val) SNV Uncertain significance 916843 X:129264088-129264088 X:130130113-130130113
15 DNAJC9-AS1 NM_016065.4(MRPS16):c.-85_-84GT[1] Microsatellite Uncertain significance 300726 rs886047201 10:75012322-75012323 10:73252564-73252565
16 DNAJC9-AS1 NM_016065.4(MRPS16):c.-120_-118del Deletion Uncertain significance 300729 rs574159820 10:75012358-75012360 10:73252600-73252602
17 DNAJC9-AS1 NM_016065.4(MRPS16):c.*450del Deletion Uncertain significance 300712 rs886047196 10:75010160-75010160 10:73250402-73250402
18 DNAJC9-AS1 NM_016065.4(MRPS16):c.275-5T>G SNV Uncertain significance 300717 rs763591161 10:75010754-75010754 10:73250996-73250996
19 MRPS22 NM_020191.3(MRPS22):c.799T>C (p.Tyr267His) SNV Uncertain significance 343490 rs762299963 3:139071555-139071555 3:139352713-139352713
20 DNAJC9-AS1 NM_016065.4(MRPS16):c.*1503A>G SNV Uncertain significance 300690 rs2018198 10:75009107-75009107 10:73249349-73249349
21 DNAJC9-AS1 NM_016065.4(MRPS16):c.*854_*856del Deletion Uncertain significance 300699 rs886047188 10:75009754-75009756 10:73249996-73249998
22 DNAJC9-AS1 NM_016065.4(MRPS16):c.*1291_*1293del Deletion Uncertain significance 300694 rs767465725 10:75009317-75009319 10:73249559-73249561
23 AARS2 NM_020745.4(AARS2):c.*1284_*1287del Deletion Uncertain significance 357034 rs201274623 6:44266997-44267000 6:44299260-44299263
24 AARS2 NM_020745.4(AARS2):c.*1473del Deletion Uncertain significance 357031 rs766302064 6:44266811-44266811 6:44299074-44299074
25 TUFM NM_003321.5(TUFM):c.1195-3T>C SNV Uncertain significance 318743 rs376169369 16:28854472-28854472 16:28843151-28843151
26 TUFM NM_003321.5(TUFM):c.-57_-55TCT[2] Microsatellite Uncertain significance 318759 rs147419027 16:28857639-28857641 16:28846318-28846320
27 MRPS22 NM_020191.4(MRPS22):c.648+19del Deletion Uncertain significance 343487 rs773240427 3:139069180-139069180 3:139350338-139350338
28 EARS2 NM_001083614.2(EARS2):c.*1048del Deletion Uncertain significance 318526 rs750087699 16:23534644-23534644 16:23523323-23523323
29 EARS2 NM_001083614.2(EARS2):c.*1902dup Duplication Uncertain significance 318512 rs79556186 16:23533789-23533790 16:23522468-23522469
30 EARS2 NM_001083614.2(EARS2):c.558G>A (p.Ala186=) SNV Uncertain significance 318554 rs374363396 16:23546609-23546609 16:23535288-23535288
31 GFM1 NM_024996.5(GFM1):c.1384G>T (p.Asp462Tyr) SNV Uncertain significance 343933 rs200244667 3:158383129-158383129 3:158665340-158665340
32 AARS2 NM_020745.4(AARS2):c.*1112dup Duplication Uncertain significance 357037 rs112521684 6:44267171-44267172 6:44299434-44299435
33 DNAJC9-AS1 NM_016065.4(MRPS16):c.*633dup Duplication Uncertain significance 300704 rs555061429 10:75009976-75009977 10:73250218-73250219
34 EARS2 NM_001083614.2(EARS2):c.*535dup Duplication Uncertain significance 318531 rs11300207 16:23535156-23535157 16:23523835-23523836
35 TSFM NM_005726.6(TSFM):c.233C>T (p.Ala78Val) SNV Uncertain significance 310009 rs886049729 12:58179947-58179947 12:57786164-57786164
36 RAB33A NM_004208.4(AIFM1):c.1501A>T (p.Ser501Cys) SNV Uncertain significance 411664 rs769816388 X:129265722-129265722 X:130131747-130131747
37 RAB33A NM_004208.4(AIFM1):c.1481C>T (p.Ala494Val) SNV Uncertain significance 477606 rs1556254400 X:129265742-129265742 X:130131767-130131767
38 RAB33A NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) SNV Uncertain significance 243069 rs202219398 X:129267348-129267348 X:130133373-130133373
39 RAB33A NM_004208.4(AIFM1):c.597A>C (p.Lys199Asn) SNV Uncertain significance 477607 rs143670174 X:129281476-129281476 X:130147501-130147501
40 RAB33A NM_004208.4(AIFM1):c.134C>G (p.Pro45Arg) SNV Uncertain significance 214085 rs756361109 X:129290550-129290550 X:130156576-130156576
41 RAB33A NM_004208.4(AIFM1):c.1114G>A (p.Val372Ile) SNV Uncertain significance 543931 rs1056740593 X:129270668-129270668 X:130136693-130136693
42 RAB33A NM_004208.4(AIFM1):c.1081G>A (p.Val361Ile) SNV Uncertain significance 576371 rs1569417347 X:129270701-129270701 X:130136726-130136726
43 RAB33A NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) SNV Uncertain significance 445310 rs201711375 X:129290514-129290514 X:130156540-130156540
44 RAB33A NM_004208.4(AIFM1):c.341C>T (p.Ala114Val) SNV Uncertain significance 639720 rs138662844 X:129283452-129283452 X:130149477-130149477
45 RAB33A NM_004208.4(AIFM1):c.1075+4G>C SNV Uncertain significance 640384 rs374943447 X:129271049-129271049 X:130137074-130137074
46 RAB33A NM_004208.4(AIFM1):c.1006G>A (p.Glu336Lys) SNV Uncertain significance 641733 rs1603223158 X:129271122-129271122 X:130137147-130137147
47 RAB33A NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val) SNV Uncertain significance 642792 rs1375125488 X:129264022-129264022 X:130130047-130130047
48 RAB33A NM_004208.4(AIFM1):c.238G>A (p.Ala80Thr) SNV Uncertain significance 643584 rs1603230120 X:129290446-129290446 X:130156472-130156472
49 RAB33A NM_004208.4(AIFM1):c.1710C>A (p.Asp570Glu) SNV Uncertain significance 643666 rs1603218828 X:129264005-129264005 X:130130030-130130030
50 RAB33A NM_004208.4(AIFM1):c.1594A>G (p.Ser532Gly) SNV Uncertain significance 646433 rs1603218953 X:129264121-129264121 X:130130146-130130146

Expression for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

Search GEO for disease gene expression data for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies.

Pathways for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

GO Terms for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

Sources for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....