MC1DN23
MCID: MTC169
MIFTS: 15

Mitochondrial Complex I Deficiency, Nuclear Type 23 (MC1DN23)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 23

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 23:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 23 58 76 30 6
Mc1dn23 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early childhood
one patient, born of consanguineous pakistani parents, has been reported (last curated january 2019)


HPO:

33
mitochondrial complex i deficiency, nuclear type 23:
Onset and clinical course progressive


Classifications:



External Ids:

OMIM 58 618244
MeSH 45 D028361
MedGen 43 CN257521
SNOMED-CT via HPO 70 252157006 255314001 74035001

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 23

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 23: 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. MC1DN23 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 23, is also known as mc1dn23. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 23 is NDUFA12 (NADH:Ubiquinone Oxidoreductase Subunit A12). Affiliated tissues include liver and skeletal muscle, and related phenotypes are skeletal muscle atrophy and dystonia

Description from OMIM: 618244

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 23

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 23

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 23:

33
# Description HPO Frequency HPO Source Accession
1 skeletal muscle atrophy 33 HP:0003202
2 dystonia 33 HP:0001332
3 generalized hypotonia 33 HP:0001290
4 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis

Skin Nails Hair Hair:
hypertrichosis

Growth Other:
poor overall growth

Neurologic Central Nervous System:
dystonia
delayed motor development
delayed walking
learning difficulties
white matter abnormalities consistent with leigh syndrome
more
Muscle Soft Tissue:
hypotonia
muscle atrophy

Laboratory Abnormalities:
mitochondrial complex i deficiency in various tissues

Clinical features from OMIM:

618244

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 23

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 23

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 23

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 23:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 23 30 NDUFA12

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 23

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 23:

42
Liver, Skeletal Muscle

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 23

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 23:

# Title Authors Year
1
Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. ( 21617257 )
2011

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 23

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 23:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFA12 NM_018838.4(NDUFA12): c.178C> T (p.Arg60Ter) single nucleotide variant Pathogenic rs387907139 GRCh37 Chromosome 12, 95388025: 95388025
2 NDUFA12 NM_018838.4(NDUFA12): c.178C> T (p.Arg60Ter) single nucleotide variant Pathogenic rs387907139 GRCh38 Chromosome 12, 94994249: 94994249

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 23

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 23.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 23

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 23

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 23

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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