MCID: MTC147
MIFTS: 9

Mitochondrial Complex I Deficiency, Nuclear Type 12

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 12

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 12:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 12 58 6
Mc1dn12 58

Characteristics:

OMIM:

58
Miscellaneous:
variable severity
onset in the first year of life
death in early childhood may occur
two unrelated families have been reported (last curated january 2019)

Inheritance:
x-linked recessive


Classifications:



External Ids:

OMIM 58 301020

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 12

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 12, is also known as mc1dn12. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 12 is NDUFA1 (NADH:Ubiquinone Oxidoreductase Subunit A1). Affiliated tissues include brain.

Description from OMIM: 301020

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 12

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 12

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus

Neurologic Peripheral Nervous System:
hyporeflexia

Respiratory:
abnormal breathing pattern (in some patients)

Neurologic Central Nervous System:
global developmental delay
choreoathetosis
extrapyramidal signs
myoclonic seizures
delayed walking
more
Muscle Soft Tissue:
axial hypotonia

Laboratory Abnormalities:
increased serum lactate (in some patients)
mitochondrial respiratory complex i deficiency in various tissues

Clinical features from OMIM:

301020

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 12

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 12

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 12

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 12

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 12:

42
Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 12

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 12

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 12:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFA1 NM_004541.3(NDUFA1): c.22G> C (p.Gly8Arg) single nucleotide variant Pathogenic rs104894884 GRCh37 Chromosome X, 119005896: 119005896
2 NDUFA1 NM_004541.3(NDUFA1): c.22G> C (p.Gly8Arg) single nucleotide variant Pathogenic rs104894884 GRCh38 Chromosome X, 119871933: 119871933
3 NDUFA1 NM_004541.3(NDUFA1): c.111G> C (p.Arg37Ser) single nucleotide variant Pathogenic rs104894885 GRCh37 Chromosome X, 119007275: 119007275
4 NDUFA1 NM_004541.3(NDUFA1): c.111G> C (p.Arg37Ser) single nucleotide variant Pathogenic rs104894885 GRCh38 Chromosome X, 119873312: 119873312

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 12

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 12.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 12

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 12

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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