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 MRPS22 NM_020191.3(MRPS22):c.617C>T (p.Thr206Ile)SNV Conflicting interpretations of pathogenicity 214683 rs76148008 3:139069133-139069133 3:139350291-139350291
3 AIFM1 NM_004208.4(AIFM1):c.1047C>T (p.Ser349=)SNV Conflicting interpretations of pathogenicity 214080 rs781350745 X:129271081-129271081 X:130137106-130137106
4 GFM1 NM_024996.5(GFM1):c.235-14G>ASNV Conflicting interpretations of pathogenicity 214478 rs201304690 3:158363940-158363940 3:158646151-158646151
5 GFM1 NM_024996.5(GFM1):c.622G>A (p.Glu208Lys)SNV Conflicting interpretations of pathogenicity 214492 rs191462023 3:158366879-158366879 3:158649090-158649090
6 GFM1 NM_024996.5(GFM1):c.960A>C (p.Pro320=)SNV Conflicting interpretations of pathogenicity 214485 rs145970222 3:158371218-158371218 3:158653429-158653429
7 AARS2 NM_020745.4(AARS2):c.1192G>A (p.Ala398Thr)SNV Conflicting interpretations of pathogenicity 213953 rs202171981 6:44274125-44274125 6:44306388-44306388
8 AARS2 NM_020745.4(AARS2):c.268G>C (p.Val90Leu)SNV Conflicting interpretations of pathogenicity 213948 rs863223860 6:44279976-44279976 6:44312239-44312239
9 MRPS16 NM_016065.4(MRPS16):c.389C>G (p.Thr130Arg)SNV Conflicting interpretations of pathogenicity 214673 rs117510230 10:75010635-75010635 10:73250877-73250877
10 MRPS16 NM_016065.4(MRPS16):c.112C>A (p.His38Asn)SNV Conflicting interpretations of pathogenicity 214670 rs116157972 10:75011683-75011683 10:73251925-73251925
11 TUFM NM_003321.5(TUFM):c.1292A>G (p.Asn431Ser)SNV Conflicting interpretations of pathogenicity 215313 rs146326033 16:28854372-28854372 16:28843051-28843051
12 AARS2 NM_020745.4(AARS2):c.1196A>G (p.Asn399Ser)SNV Conflicting interpretations of pathogenicity 136228 rs113433939 6:44274121-44274121 6:44306384-44306384
13 AARS2 NM_020745.4(AARS2):c.1752G>A (p.Glu584=)SNV Conflicting interpretations of pathogenicity 136231 rs78525157 6:44272382-44272382 6:44304645-44304645
14 GFM1 NM_024996.5(GFM1):c.1083+6T>GSNV Conflicting interpretations of pathogenicity 137461 rs142919829 3:158372426-158372426 3:158654637-158654637
15 GFM1 NM_024996.5(GFM1):c.127A>G (p.Asn43Asp)SNV Conflicting interpretations of pathogenicity 137462 rs35942089 3:158363463-158363463 3:158645674-158645674
16 GFM1 NM_024996.5(GFM1):c.1601+9G>CSNV Conflicting interpretations of pathogenicity 137463 rs77186707 3:158384184-158384184 3:158666395-158666395
17 GFM1 NM_024996.5(GFM1):c.-38C>TSNV Conflicting interpretations of pathogenicity 137468 rs377352238 3:158362386-158362386 3:158644597-158644597
18 GFM1 NM_024996.5(GFM1):c.568A>C (p.Met190Leu)SNV Conflicting interpretations of pathogenicity 137465 rs75450876 3:158364732-158364732 3:158646943-158646943
19 TSFM NM_005726.6(TSFM):c.361-12T>GSNV Conflicting interpretations of pathogenicity 137763 rs368313488 12:58180811-58180811 12:57787028-57787028
20 TSFM NM_005726.6(TSFM):c.796C>A (p.Leu266Ile)SNV Conflicting interpretations of pathogenicity 235467 rs62000432 12:58190184-58190184 12:57796401-57796401
21 AIFM1 NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile)SNV Conflicting interpretations of pathogenicity 243069 rs202219398 X:129267348-129267348 X:130133373-130133373
22 MRPS16 NM_016065.4(MRPS16):c.-8G>CSNV Conflicting interpretations of pathogenicity 138249 rs2271909 10:75012248-75012248 10:73252490-73252490
23 EARS2 NM_001308211.1(EARS2):c.280A>G (p.Met94Val)SNV Conflicting interpretations of pathogenicity 290959 rs200139797 16:23563485-23563485 16:23552164-23552164
24 MRPS22 NM_001363857.1(MRPS22):c.864+15deldeletion Conflicting interpretations of pathogenicity 343491 rs372892045 3:139074639-139074639 3:139355797-139355797
25 GFM1 NM_024996.5(GFM1):c.373G>A (p.Val125Met)SNV Conflicting interpretations of pathogenicity 343923 rs200923387 3:158364537-158364537 3:158646748-158646748
26 MRPS22 NM_020191.3(MRPS22):c.90G>A (p.Gln30=)SNV Conflicting interpretations of pathogenicity 343483 rs772766573 3:139062958-139062958 3:139344116-139344116
27 GFM1 NM_024996.5(GFM1):c.1324-15T>ASNV Conflicting interpretations of pathogenicity 343931 rs375168014 3:158380402-158380402 3:158662613-158662613
28 MRPS22 NM_020191.3(MRPS22):c.340-14T>ASNV Conflicting interpretations of pathogenicity 343486 rs377459479 3:139066988-139066988 3:139348146-139348146
29 MRPS22 NM_020191.3(MRPS22):c.327A>G (p.Ala109=)SNV Conflicting interpretations of pathogenicity 343485 rs138148950 3:139065874-139065874 3:139347032-139347032
30 GFM1 NM_024996.5(GFM1):c.56C>T (p.Ala19Val)SNV Conflicting interpretations of pathogenicity 343920 rs567086019 3:158362479-158362479 3:158644690-158644690
31 GFM1 NM_024996.5(GFM1):c.1343A>G (p.Asp448Gly)SNV Conflicting interpretations of pathogenicity 343932 rs146951325 3:158380436-158380436 3:158662647-158662647
32 GFM1 NM_024996.5(GFM1):c.987C>A (p.Leu329=)SNV Conflicting interpretations of pathogenicity 343928 rs531887279 3:158371245-158371245 3:158653456-158653456
33 GFM1 NM_024996.5(GFM1):c.1032C>T (p.Asn344=)SNV Conflicting interpretations of pathogenicity 343929 rs373952002 3:158372369-158372369 3:158654580-158654580
34 GFM1 NM_024996.5(GFM1):c.2190C>T (p.Asp730=)SNV Conflicting interpretations of pathogenicity 343937 rs149049400 3:158409190-158409190 3:158691401-158691401
35 AARS2 NM_020745.4(AARS2):c.1534G>C (p.Asp512His)SNV Conflicting interpretations of pathogenicity 357070 rs146512155 6:44272836-44272836 6:44305099-44305099
36 AARS2 NM_020745.4(AARS2):c.2679C>T (p.Leu893=)SNV Conflicting interpretations of pathogenicity 357058 rs766642839 6:44269121-44269121 6:44301384-44301384
37 AARS2 NM_020745.4(AARS2):c.1661G>A (p.Arg554His)SNV Conflicting interpretations of pathogenicity 357067 rs139280416 6:44272473-44272473 6:44304736-44304736
38 AARS2 NM_020745.4(AARS2):c.*9C>TSNV Conflicting interpretations of pathogenicity 357054 rs772455600 6:44268275-44268275 6:44300538-44300538
39 AARS2 NM_020745.4(AARS2):c.1569C>T (p.Ser523=)SNV Conflicting interpretations of pathogenicity 357069 rs374173311 6:44272801-44272801 6:44305064-44305064
40 AARS2 NM_020745.4(AARS2):c.1084A>T (p.Met362Leu)SNV Conflicting interpretations of pathogenicity 357073 rs147091256 6:44274725-44274725 6:44306988-44306988
41 AARS2 NM_020745.4(AARS2):c.985C>T (p.Arg329Cys)SNV Conflicting interpretations of pathogenicity 357074 rs200187887 6:44275041-44275041 6:44307304-44307304
42 AARS2 NM_020745.4(AARS2):c.761G>C (p.Gly254Ala)SNV Conflicting interpretations of pathogenicity 357080 rs199919912 6:44278169-44278169 6:44310432-44310432
43 AARS2 NM_020745.4(AARS2):c.2007+8C>TSNV Conflicting interpretations of pathogenicity 357064 rs150125794 6:44271910-44271910 6:44304173-44304173
44 MRPS16 NM_016065.4(MRPS16):c.63T>C (p.Leu21=)SNV Conflicting interpretations of pathogenicity 300721 rs376338190 10:75011732-75011732 10:73251974-73251974
45 TSFM NM_005726.6(TSFM):c.271T>G (p.Trp91Gly)SNV Conflicting interpretations of pathogenicity 310010 rs542571914 12:58179985-58179985 12:57786202-57786202
46 TSFM NM_005726.6(TSFM):c.539G>C (p.Gly180Ala)SNV Conflicting interpretations of pathogenicity 310016 rs138534976 12:58186824-58186824 12:57793041-57793041
47 MRPS16 NM_016065.4(MRPS16):c.14-12G>ASNV Conflicting interpretations of pathogenicity 300725 rs11594611 10:75011793-75011793 10:73252035-73252035
48 EARS2 NM_001308211.1(EARS2):c.263C>A (p.Ala88Glu)SNV Conflicting interpretations of pathogenicity 318556 rs201929423 16:23563502-23563502 16:23552181-23552181
49 MRPS16 NM_016065.4(MRPS16):c.96C>T (p.Tyr32=)SNV Conflicting interpretations of pathogenicity 300720 rs201106309 10:75011699-75011699 10:73251941-73251941
50 MRPS16 NM_016065.4(MRPS16):c.59G>A (p.Arg20His)SNV Conflicting interpretations of pathogenicity 300722 rs202242186 10:75011736-75011736 10:73251978-73251978

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