MC1DN12
MCID: MTC147
MIFTS: 21

Mitochondrial Complex I Deficiency, Nuclear Type 12 (MC1DN12)

Categories: Genetic diseases, Metabolic 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 57 72
Mc1dn12 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 12 29 6
Nuclear Type Mitochondrial Complex I Deficiency 12 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
mitochondrial complex i deficiency, nuclear type 12:
Onset and clinical course variable expressivity
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112099
OMIM® 57 301020
OMIM Phenotypic Series 57 PS252010
MeSH 44 D028361

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 12

UniProtKB/Swiss-Prot : 72 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 brain, and related phenotypes are increased serum lactate and cerebellar atrophy

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in hemizygous mutation in NDUFA1 on chromosome Xq24.

More information from OMIM: 301020 PS252010

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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 increased serum lactate 31 very rare (1%) HP:0002151
2 cerebellar atrophy 31 very rare (1%) HP:0001272
3 nystagmus 31 HP:0000639
4 global developmental delay 31 HP:0001263
5 abnormality of extrapyramidal motor function 31 HP:0002071
6 hyporeflexia 31 HP:0001265
7 choreoathetosis 31 HP:0001266
8 muscular hypotonia of the trunk 31 HP:0008936
9 delayed ability to walk 31 HP:0031936
10 generalized myoclonic seizure 31 HP:0002123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 1 Deficiency, Nuclear Type 12 29 NDUFA1

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 12

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

40
Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 12

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

# Title Authors PMID Year
1
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. 57 6
17262856 2007
2
Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. 57
21596602 2011
3
A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. 57
19185523 2009
4
SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I. 57
15293270 2004

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 12

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDUFA1 NM_004541.4(NDUFA1):c.22G>C (p.Gly8Arg) SNV Pathogenic 11648 rs104894884 GRCh37: X:119005896-119005896
GRCh38: X:119871933-119871933
2 NDUFA1 NM_004541.4(NDUFA1):c.111G>C (p.Arg37Ser) SNV Pathogenic 11649 rs104894885 GRCh37: X:119007275-119007275
GRCh38: X:119873312-119873312
3 NDUFA1 NM_004541.4(NDUFA1):c.194G>T (p.Gly65Val) SNV Uncertain significance 981164 GRCh37: X:119010478-119010478
GRCh38: X:119876515-119876515
4 NDUFA1 NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) SNV Likely benign 36974 rs1801316 GRCh37: X:119005968-119005968
GRCh38: X:119872005-119872005

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

72
# Symbol AA change Variation ID SNP ID
1 NDUFA1 p.Gly8Arg VAR_035099 rs104894884
2 NDUFA1 p.Arg37Ser VAR_035100 rs104894885

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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