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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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 364) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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>A	SNV	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>G	SNV	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>C	SNV	Conflicting interpretations of pathogenicity	137463	rs77186707	3:158384184-158384184	3:158666395-158666395
17	GFM1	NM_024996.5(GFM1):c.-38C>T	SNV	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>G	SNV	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>C	SNV	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+15del	deletion	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>A	SNV	Conflicting interpretations of pathogenicity	343931	rs375168014	3:158380402-158380402	3:158662613-158662613
28	MRPS22	NM_020191.3(MRPS22):c.340-14T>A	SNV	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>T	SNV	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>T	SNV	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>A	SNV	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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Expression for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

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