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
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).

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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 AARS2 NM_020745.4(AARS2):c.1196A>G (p.Asn399Ser)SNV Conflicting interpretations of pathogenicity 136228 rs113433939 6:44274121-44274121 6:44306384-44306384
3 AARS2 NM_020745.4(AARS2):c.1752G>A (p.Glu584=)SNV Conflicting interpretations of pathogenicity 136231 rs78525157 6:44272382-44272382 6:44304645-44304645
4 GFM1 NM_024996.5(GFM1):c.1083+6T>GSNV Conflicting interpretations of pathogenicity 137461 rs142919829 3:158372426-158372426 3:158654637-158654637
5 GFM1 NM_024996.5(GFM1):c.127A>G (p.Asn43Asp)SNV Conflicting interpretations of pathogenicity 137462 rs35942089 3:158363463-158363463 3:158645674-158645674
6 GFM1 NM_024996.5(GFM1):c.1601+9G>CSNV Conflicting interpretations of pathogenicity 137463 rs77186707 3:158384184-158384184 3:158666395-158666395
7 GFM1 NM_024996.5(GFM1):c.568A>C (p.Met190Leu)SNV Conflicting interpretations of pathogenicity 137465 rs75450876 3:158364732-158364732 3:158646943-158646943
8 GFM1 NM_024996.5(GFM1):c.-38C>TSNV Conflicting interpretations of pathogenicity 137468 rs377352238 3:158362386-158362386 3:158644597-158644597
9 TSFM NM_001172697.1(TSFM):c.361-12T>GSNV Conflicting interpretations of pathogenicity 137763 rs368313488 12:58180811-58180811 12:57787028-57787028
10 MRPS16 NM_016065.4(MRPS16):c.-8G>CSNV Conflicting interpretations of pathogenicity 138249 rs2271909 10:75012248-75012248 10:73252490-73252490
11 GFM1 NM_024996.5(GFM1):c.235-14G>ASNV Conflicting interpretations of pathogenicity 214478 rs201304690 3:158363940-158363940 3:158646151-158646151
12 AARS2 NM_020745.4(AARS2):c.1192G>A (p.Ala398Thr)SNV Conflicting interpretations of pathogenicity 213953 rs202171981 6:44274125-44274125 6:44306388-44306388
13 AARS2 NM_020745.4(AARS2):c.268G>C (p.Val90Leu)SNV Conflicting interpretations of pathogenicity 213948 rs863223860 6:44279976-44279976 6:44312239-44312239
14 MRPS16 NM_016065.4(MRPS16):c.389C>G (p.Thr130Arg)SNV Conflicting interpretations of pathogenicity 214673 rs117510230 10:75010635-75010635 10:73250877-73250877
15 MRPS16 NM_016065.4(MRPS16):c.112C>A (p.His38Asn)SNV Conflicting interpretations of pathogenicity 214670 rs116157972 10:75011683-75011683 10:73251925-73251925
16 GFM1 NM_024996.5(GFM1):c.960A>C (p.Pro320=)SNV Conflicting interpretations of pathogenicity 214485 rs145970222 3:158371218-158371218 3:158653429-158653429
17 AIFM1 NM_004208.4(AIFM1):c.1047C>T (p.Ser349=)SNV Conflicting interpretations of pathogenicity 214080 rs781350745 X:129271081-129271081 X:130137106-130137106
18 TSFM NM_001172697.1(TSFM):c.571+3328C>ASNV Conflicting interpretations of pathogenicity 235467 rs62000432 12:58190184-58190184 12:57796401-57796401
19 AIFM1 NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile)SNV Conflicting interpretations of pathogenicity 243069 rs202219398 X:129267348-129267348 X:130133373-130133373
20 EARS2 NM_001308211.1(EARS2):c.280A>G (p.Met94Val)SNV Conflicting interpretations of pathogenicity 290959 rs200139797 16:23563485-23563485 16:23552164-23552164
21 MRPS22 NM_001363857.1(MRPS22):c.864+15deldeletion Conflicting interpretations of pathogenicity 343491 rs372892045 3:139074647-139074647 3:139355805-139355805
22 GFM1 NM_024996.5(GFM1):c.1324-15T>ASNV Conflicting interpretations of pathogenicity 343931 rs375168014 3:158380402-158380402 3:158662613-158662613
23 MRPS22 NM_020191.3(MRPS22):c.90G>A (p.Gln30=)SNV Conflicting interpretations of pathogenicity 343483 rs772766573 3:139062958-139062958 3:139344116-139344116
24 MRPS22 NM_020191.3(MRPS22):c.340-14T>ASNV Conflicting interpretations of pathogenicity 343486 rs377459479 3:139066988-139066988 3:139348146-139348146
25 GFM1 NM_024996.5(GFM1):c.1032C>T (p.Asn344=)SNV Conflicting interpretations of pathogenicity 343929 rs373952002 3:158372369-158372369 3:158654580-158654580
26 GFM1 NM_024996.5(GFM1):c.2190C>T (p.Asp730=)SNV Conflicting interpretations of pathogenicity 343937 rs149049400 3:158409190-158409190 3:158691401-158691401
27 AARS2 NM_020745.4(AARS2):c.1534G>C (p.Asp512His)SNV Conflicting interpretations of pathogenicity 357070 rs146512155 6:44272836-44272836 6:44305099-44305099
28 AARS2 NM_020745.4(AARS2):c.2679C>T (p.Leu893=)SNV Conflicting interpretations of pathogenicity 357058 rs766642839 6:44269121-44269121 6:44301384-44301384
29 AARS2 NM_020745.4(AARS2):c.*9C>TSNV Conflicting interpretations of pathogenicity 357054 rs772455600 6:44268275-44268275 6:44300538-44300538
30 AARS2 NM_020745.4(AARS2):c.2007+8C>TSNV Conflicting interpretations of pathogenicity 357064 rs150125794 6:44271910-44271910 6:44304173-44304173
31 AARS2 NM_020745.4(AARS2):c.985C>T (p.Arg329Cys)SNV Conflicting interpretations of pathogenicity 357074 rs200187887 6:44275041-44275041 6:44307304-44307304
32 MRPS16 NM_016065.4(MRPS16):c.63T>C (p.Leu21=)SNV Conflicting interpretations of pathogenicity 300721 rs376338190 10:75011732-75011732 10:73251974-73251974
33 MRPS16 NM_016065.4(MRPS16):c.14-12G>ASNV Conflicting interpretations of pathogenicity 300725 rs11594611 10:75011793-75011793 10:73252035-73252035
34 TUFM NM_003321.5(TUFM):c.759C>T (p.Pro253=)SNV Conflicting interpretations of pathogenicity 318749 rs185379779 16:28855798-28855798 16:28844477-28844477
35 TSFM NM_001172697.1(TSFM):c.408G>A (p.Leu136=)SNV Conflicting interpretations of pathogenicity 310013 rs144109380 12:58180870-58180870 12:57787087-57787087
36 TSFM NM_001172697.1(TSFM):c.69T>A (p.Leu23=)SNV Conflicting interpretations of pathogenicity 310007 rs147317818 12:58176904-58176904 12:57783121-57783121
37 TUFM NM_003321.5(TUFM):c.519+15G>ASNV Conflicting interpretations of pathogenicity 318753 rs758912548 16:28856257-28856257 16:28844936-28844936
38 EARS2 NM_001308211.1(EARS2):c.1317G>A (p.Ser439=)SNV Conflicting interpretations of pathogenicity 318545 rs74014932 16:23540858-23540858 16:23529537-23529537
39 EARS2 NM_001308211.1(EARS2):c.667G>A (p.Asp223Asn)SNV Conflicting interpretations of pathogenicity 318552 rs746087016 16:23546500-23546500 16:23535179-23535179
40 TUFM NM_003321.5(TUFM):c.684+8C>TSNV Conflicting interpretations of pathogenicity 318750 rs117782882 16:28856011-28856011 16:28844690-28844690
41 TUFM NM_003321.5(TUFM):c.520-13C>GSNV Conflicting interpretations of pathogenicity 318752 rs115691896 16:28856196-28856196 16:28844875-28844875
42 AIFM1 NM_004208.4(AIFM1):c.366A>G (p.Glu122=)SNV Conflicting interpretations of pathogenicity 367891 rs756883753 X:129281835-129281835 X:130147860-130147860
43 AIFM1 NM_004208.4(AIFM1):c.*49C>TSNV Uncertain significance 367888 rs1057515766 X:129263483-129263483 X:130129508-130129508
44 AIFM1 NM_004208.4(AIFM1):c.1643C>T (p.Pro548Leu)SNV Uncertain significance 411665 rs750418813 X:129264072-129264072 X:130130097-130130097
45 AIFM1 NM_004208.4(AIFM1):c.1501A>T (p.Ser501Cys)SNV Uncertain significance 411664 rs769816388 X:129265722-129265722 X:130131747-130131747
46 AIFM1 NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys)SNV Uncertain significance 445310 rs201711375 X:129290514-129290514 X:130156540-130156540
47 AIFM1 NM_004208.4(AIFM1):c.1481C>T (p.Ala494Val)SNV Uncertain significance 477606 rs1556254400 X:129265742-129265742 X:130131767-130131767
48 AIFM1 NM_004208.4(AIFM1):c.597A>C (p.Lys199Asn)SNV Uncertain significance 477607 rs143670174 X:129281476-129281476 X:130147501-130147501
49 EARS2 NM_001308211.1(EARS2):c.558G>A (p.Ala186=)SNV Uncertain significance 318554 rs374363396 16:23546609-23546609 16:23535288-23535288
50 EARS2 NM_001308211.1(EARS2):c.351A>G (p.Gln117=)SNV Uncertain significance 318555 rs375906347 16:23555969-23555969 16:23544648-23544648

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