MC1DN12
MCID: MTC147
MIFTS: 17

Mitochondrial Complex I Deficiency, Nuclear Type 12 (MC1DN12)

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 76 30 6
Mc1dn12 58 76

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


HPO:

33
mitochondrial complex i deficiency, nuclear type 12:
Onset and clinical course variable expressivity


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 12

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 12: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.

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 liver and brain, and related phenotypes are increased serum lactate and cerebellar atrophy

Description from OMIM: 301020

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 12

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

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 12:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 increased serum lactate 33 very rare (1%) HP:0002151
2 cerebellar atrophy 33 very rare (1%) HP:0001272
3 global developmental delay 33 HP:0001263
4 generalized myoclonic seizures 33 HP:0002123
5 abnormality of extrapyramidal motor function 33 HP:0002071
6 choreoathetosis 33 HP:0001266
7 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus

Neurologic Peripheral Nervous System:
hyporeflexia

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

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

Respiratory:
abnormal breathing pattern (in some patients)

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

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 12:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 12 30 NDUFA1

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 12

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

42
Liver, Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 12

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 12:

# Title Authors Year
1
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. ( 17262856 )
2007

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 12

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 12:

76
# Symbol AA change Variation ID SNP ID
1 NDUFA1 p.Gly8Arg VAR_035099 rs104894884
2 NDUFA1 p.Arg37Ser VAR_035100 rs104894885

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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