MC1DN23
MCID: MTC169
MIFTS: 19

Mitochondrial Complex I Deficiency, Nuclear Type 23 (MC1DN23)

Categories: Genetic diseases, Metabolic 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 57 72
Mc1dn23 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 23 29 6
Nuclear Type Mitochondrial Complex I Deficiency 23 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
mitochondrial complex i deficiency, nuclear type 23:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0112087
OMIM® 57 618244
OMIM Phenotypic Series 57 PS252010
MeSH 44 D028361

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 23

UniProtKB/Swiss-Prot : 72 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 skeletal muscle, and related phenotypes are scoliosis and skeletal muscle atrophy

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compound heterozygous mutation in NDUFA12 on chromosome 12q22.

More information from OMIM: 618244 PS252010

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 skeletal muscle atrophy 31 HP:0003202
3 dystonia 31 HP:0001332
4 generalized hypotonia 31 HP:0001290
5 hypertrichosis 31 HP:0000998
6 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 1 Deficiency, Nuclear Type 23 29 NDUFA12

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 23

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

40
Skeletal Muscle

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 23

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

# Title Authors PMID Year
1
Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. 6 57
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 Name Type Significance ClinVarId dbSNP ID Position
1 NDUFA12 NM_018838.5(NDUFA12):c.178C>T (p.Arg60Ter) SNV Pathogenic 31207 rs387907139 GRCh37: 12:95388025-95388025
GRCh38: 12:94994249-94994249
2 NDUFA12 NM_018838.5(NDUFA12):c.253G>T (p.Glu85Ter) SNV Pathogenic 802883 rs1592704794 GRCh37: 12:95387950-95387950
GRCh38: 12:94994174-94994174
3 NDUFA12 NM_018838.5(NDUFA12):c.69T>G (p.Tyr23Ter) SNV Likely pathogenic 1030675 GRCh37: 12:95397388-95397388
GRCh38: 12:95003612-95003612
4 NDUFA12 NM_018838.5(NDUFA12):c.4G>T (p.Glu2Ter) SNV Likely pathogenic 800980 rs1411237396 GRCh37: 12:95397453-95397453
GRCh38: 12:95003677-95003677

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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