MC1DN37
MCID: MTC232
MIFTS: 12

Mitochondrial Complex I Deficiency, Nuclear Type 37 (MC1DN37)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 37

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 37:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 37 57 6
Mc1dn37 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
two siblings and an unrelated individual have been described (last curated april 2021)
one patient was asymptomatic until age 4


Classifications:



External Ids:

OMIM® 57 619272
OMIM Phenotypic Series 57 PS252010

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 37

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 37, is also known as mc1dn37. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 37 is NDUFA8 (NADH:Ubiquinone Oxidoreductase Subunit A8).

More information from OMIM: 619272 PS252010

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 37

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 37

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
hypertonia
cerebellar atrophy
cerebral atrophy
hypotonia
more
Cardiovascular Vascular:
pulmonary hypertension

Muscle Soft Tissue:
congenital myopathy with disproportion of fibers (seen on muscle biopsy) decreased activity of complex i (severe)
decreased activity of complex ii and complex iii (mild)

Growth Other:
failure to thrive
growth retardation

Cardiovascular Heart:
left ventricular hypertrophy, mild (in 1 patient)
right ventricular dilation (in 1 patient)

Laboratory Abnormalities:
elevated plasma lactate
elevated plasma pyruvate
elevated csf lactate

Clinical features from OMIM®:

619272 (Updated 20-May-2021)

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 37

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 37

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 37

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 37

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 37

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 37:

# Title Authors PMID Year
1
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution. 57 6
33153867 2020
2
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency. 57 6
32385911 2020

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 37

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 37:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDUFA8 NM_014222.3(NDUFA8):c.139C>T (p.Arg47Cys) SNV Pathogenic 1064534 GRCh37: 9:124914600-124914600
GRCh38: 9:122152321-122152321
2 NDUFA8 NM_014222.3(NDUFA8):c.293G>T (p.Arg98Leu) SNV Pathogenic 1064535 GRCh37: 9:124910479-124910479
GRCh38: 9:122148200-122148200

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 37

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 37.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 37

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 37

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 37

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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