Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MTC183 MIFTS: 12	Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies Categories: Metabolic diseases, Rare diseases
Genes Variations Expand all tables

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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:

MalaCards categories:
Global: Metabolic diseases Rare diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Inborn errors of metabolism

External Ids:

Orphanet ⁵⁸ ORPHA2443

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

Diseases in the Mitochondrial Oxidative Phosphorylation Disorder family:

Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies	Mitochondrial Oxidative Phosphorylation Disorder Due to a Large-Scale Single Deletion of Mitochondrial Dna
Mitochondrial Oxidative Phosphorylation Disorder Due to Mitochondrial Dna Anomalies	Mitochondrial Oxidative Phosphorylation Disorder Due to a Point Mutation of Mitochondrial Dna

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

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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

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

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

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

Genes related to Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GFM1	G Elongation Factor Mitochondrial 1	Protein Coding	400	Pathogenic/Likely pathogenic ⁶

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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:

⁶ (show top 50) (show all 373) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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>G	SNV	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>C	SNV	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>T	SNV	Conflicting interpretations of pathogenicity	137468	rs377352238	3:158362386-158362386	3:158644597-158644597
9	TSFM	NM_001172697.1(TSFM):c.361-12T>G	SNV	Conflicting interpretations of pathogenicity	137763	rs368313488	12:58180811-58180811	12:57787028-57787028
10	MRPS16	NM_016065.4(MRPS16):c.-8G>C	SNV	Conflicting interpretations of pathogenicity	138249	rs2271909	10:75012248-75012248	10:73252490-73252490
11	GFM1	NM_024996.5(GFM1):c.235-14G>A	SNV	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>A	SNV	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+15del	deletion	Conflicting interpretations of pathogenicity	343491	rs372892045	3:139074647-139074647	3:139355805-139355805
22	GFM1	NM_024996.5(GFM1):c.1324-15T>A	SNV	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>A	SNV	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>T	SNV	Conflicting interpretations of pathogenicity	357054	rs772455600	6:44268275-44268275	6:44300538-44300538
30	AARS2	NM_020745.4(AARS2):c.2007+8C>T	SNV	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>A	SNV	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>A	SNV	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>T	SNV	Conflicting interpretations of pathogenicity	318750	rs117782882	16:28856011-28856011	16:28844690-28844690
41	TUFM	NM_003321.5(TUFM):c.520-13C>G	SNV	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>T	SNV	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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Expression for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

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