MCID: MTC183
MIFTS: 11

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
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...

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

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

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

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GFM1 NM_024996.5(GFM1):c.748C>T (p.Arg250Trp)SNV Pathogenic/Likely pathogenic 30598 rs139430866 3:158369943-158369943 3:158652154-158652154
2 AIFM1 NM_004208.4(AIFM1):c.340G>A (p.Ala114Thr)SNV Conflicting interpretations of pathogenicity 857026 X:129283453-129283453 X:130149478-130149478
3 MRPS16 NM_016065.4(MRPS16):c.389C>G (p.Thr130Arg)SNV Conflicting interpretations of pathogenicity 214673 rs117510230 10:75010635-75010635 10:73250877-73250877
4 MRPS16 NM_016065.4(MRPS16):c.112C>A (p.His38Asn)SNV Conflicting interpretations of pathogenicity 214670 rs116157972 10:75011683-75011683 10:73251925-73251925
5 AIFM1 NM_004208.4(AIFM1):c.1047C>T (p.Ser349=)SNV Conflicting interpretations of pathogenicity 214080 rs781350745 X:129271081-129271081 X:130137106-130137106
6 AIFM1 NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln)SNV Conflicting interpretations of pathogenicity 214082 rs752742151 X:129281749-129281749 X:130147774-130147774
7 MRPS16 NM_016065.4(MRPS16):c.-8G>CSNV Conflicting interpretations of pathogenicity 138249 rs2271909 10:75012248-75012248 10:73252490-73252490
8 AIFM1 NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile)SNV Conflicting interpretations of pathogenicity 243069 rs202219398 X:129267348-129267348 X:130133373-130133373
9 MRPS22 NM_020191.4(MRPS22):c.987+15deldeletion Conflicting interpretations of pathogenicity 343491 rs372892045 3:139074639-139074639 3:139355797-139355797
10 AARS2 NM_020745.4(AARS2):c.1534G>C (p.Asp512His)SNV Conflicting interpretations of pathogenicity 357070 rs146512155 6:44272836-44272836 6:44305099-44305099
11 MRPS16 NM_016065.4(MRPS16):c.63T>C (p.Leu21=)SNV Conflicting interpretations of pathogenicity 300721 rs376338190 10:75011732-75011732 10:73251974-73251974
12 MRPS16 NM_016065.4(MRPS16):c.14-12G>ASNV Conflicting interpretations of pathogenicity 300725 rs11594611 10:75011793-75011793 10:73252035-73252035
13 MRPS16 NM_016065.4(MRPS16):c.96C>T (p.Tyr32=)SNV Conflicting interpretations of pathogenicity 300720 rs201106309 10:75011699-75011699 10:73251941-73251941
14 MRPS16 NM_016065.4(MRPS16):c.59G>A (p.Arg20His)SNV Conflicting interpretations of pathogenicity 300722 rs202242186 10:75011736-75011736 10:73251978-73251978
15 MRPS16 NM_016065.4(MRPS16):c.-147C>GSNV Uncertain significance 300731 rs886047202 10:75012387-75012387 10:73252629-73252629
16 C12orf65 NM_152269.5(C12orf65):c.*14deldeletion Uncertain significance 307498 rs886049040 12:123741592-123741592 12:123257045-123257045
17 TUFM NM_003321.5(TUFM):c.1195-3T>CSNV Uncertain significance 318743 rs376169369 16:28854472-28854472 16:28843151-28843151
18 TUFM NM_003321.5(TUFM):c.-57_-55TCT[2]short repeat Uncertain significance 318759 rs147419027 16:28857639-28857641 16:28846318-28846320
19 TSFM NM_005726.6(TSFM):c.233C>T (p.Ala78Val)SNV Uncertain significance 310009 rs886049729 12:58179947-58179947 12:57786164-57786164
20 C12orf65 NM_152269.5(C12orf65):c.*702_*705CAGT[1]short repeat Uncertain significance 307511 rs886049046 12:123742280-123742283 12:123257733-123257736
21 TUFM NM_003321.4(TUFM):c.-81G>CSNV Uncertain significance 318761 rs573249163 16:28857671-28857671 16:28846350-28846350
22 TUFM NM_003321.4(TUFM):c.-128G>CSNV Uncertain significance 318762 rs555362028 16:28857718-28857718 16:28846397-28846397
23 EARS2 NM_001083614.2(EARS2):c.*1902dupduplication Uncertain significance 318512 rs79556186 16:23533789-23533790 16:23522468-23522469
24 EARS2 NM_001083614.2(EARS2):c.*1048deldeletion Uncertain significance 318526 rs750087699 16:23534644-23534644 16:23523323-23523323
25 EARS2 NM_001083614.2(EARS2):c.*535dupduplication Uncertain significance 318531 rs11300207 16:23535156-23535157 16:23523835-23523836
26 EARS2 NM_001083614.2(EARS2):c.558G>A (p.Ala186=)SNV Uncertain significance 318554 rs374363396 16:23546609-23546609 16:23535288-23535288
27 AIFM1 NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys)SNV Uncertain significance 372555 rs1057517852 X:129264118-129264118 X:130130143-130130143
28 MRPS16 NM_016065.4(MRPS16):c.16A>C (p.Thr6Pro)SNV Uncertain significance 300724 rs141953041 10:75011779-75011779 10:73252021-73252021
29 MRPS16 NM_016065.4(MRPS16):c.275-7C>ASNV Uncertain significance 300718 rs886047199 10:75010756-75010756 10:73250998-73250998
30 MRPS16 NM_016065.4(MRPS16):c.247C>A (p.Leu83Ile)SNV Uncertain significance 300719 rs886047200 10:75011548-75011548 10:73251790-73251790
31 MRPS16 NM_016065.4(MRPS16):c.*1295T>ASNV Uncertain significance 300693 rs778852449 10:75009315-75009315 10:73249557-73249557
32 MRPS16 NM_016065.4(MRPS16):c.*642T>CSNV Uncertain significance 300703 rs145765900 10:75009968-75009968 10:73250210-73250210
33 MRPS16 NM_016065.4(MRPS16):c.*1074A>CSNV Uncertain significance 300696 rs530487067 10:75009536-75009536 10:73249778-73249778
34 MRPS16 NM_016065.4(MRPS16):c.*979C>GSNV Uncertain significance 300697 rs112218454 10:75009631-75009631 10:73249873-73249873
35 MRPS16 NM_016065.4(MRPS16):c.*593A>GSNV Uncertain significance 300706 rs886047193 10:75010017-75010017 10:73250259-73250259
36 MRPS16 NM_016065.4(MRPS16):c.*566A>GSNV Uncertain significance 300707 rs886047194 10:75010044-75010044 10:73250286-73250286
37 MRPS16 NM_016065.4(MRPS16):c.*280C>TSNV Uncertain significance 300713 rs181757719 10:75010330-75010330 10:73250572-73250572
38 MRPS16 NM_016065.4(MRPS16):c.*1391G>ASNV Uncertain significance 300692 rs139703406 10:75009219-75009219 10:73249461-73249461
39 MRPS16 NM_016065.4(MRPS16):c.*1150G>ASNV Uncertain significance 300695 rs79140810 10:75009460-75009460 10:73249702-73249702
40 MRPS16 NM_016065.4(MRPS16):c.*922G>ASNV Uncertain significance 300698 rs561890630 10:75009688-75009688 10:73249930-73249930
41 MRPS16 NM_016065.4(MRPS16):c.-120_-118deldeletion Uncertain significance 300729 rs574159820 10:75012358-75012360 10:73252600-73252602
42 MRPS16 NM_016065.4(MRPS16):c.*742G>TSNV Uncertain significance 300700 rs886047189 10:75009868-75009868 10:73250110-73250110
43 MRPS16 NM_016065.4(MRPS16):c.*741A>TSNV Uncertain significance 300701 rs886047190 10:75009869-75009869 10:73250111-73250111
44 MRPS16 NM_016065.4(MRPS16):c.*502G>ASNV Uncertain significance 300709 rs560241550 10:75010108-75010108 10:73250350-73250350
45 MRPS16 NM_016065.4(MRPS16):c.*472C>TSNV Uncertain significance 300711 rs886047195 10:75010138-75010138 10:73250380-73250380
46 MRPS16 NM_016065.4(MRPS16):c.*450deldeletion Uncertain significance 300712 rs886047196 10:75010160-75010160 10:73250402-73250402
47 MRPS16 NM_016065.4(MRPS16):c.275-5T>GSNV Uncertain significance 300717 rs763591161 10:75010754-75010754 10:73250996-73250996
48 MRPS16 NM_016065.4(MRPS16):c.*1860G>TSNV Uncertain significance 300686 rs886047186 10:75008750-75008750 10:73248992-73248992
49 MRPS16 NM_016065.4(MRPS16):c.*1503A>GSNV Uncertain significance 300690 rs2018198 10:75009107-75009107 10:73249349-73249349
50 MRPS16 NM_016065.4(MRPS16):c.*1291_*1293deldeletion Uncertain significance 300694 rs767465725 10:75009317-75009319 10:73249559-73249561

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