MC1DN7
MCID: MTC155
MIFTS: 18

Mitochondrial Complex I Deficiency, Nuclear Type 7 (MC1DN7)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 7

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 7:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 7 58 76 30 6
Mc1dn7 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death may occur
variable features


HPO:

33
mitochondrial complex i deficiency, nuclear type 7:
Onset and clinical course infantile onset


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 7

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 7: 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. MC1DN7 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 7, is also known as mc1dn7. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 7 is NDUFV2 (NADH:Ubiquinone Oxidoreductase Core Subunit V2). Affiliated tissues include liver, brain and skeletal muscle, and related phenotypes are brain atrophy and nystagmus

Description from OMIM: 618229

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 7

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 7

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 7:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 brain atrophy 33 HP:0012444
2 nystagmus 33 HP:0000639
3 spasticity 33 HP:0001257
4 developmental regression 33 HP:0002376
5 optic atrophy 33 HP:0000648
6 generalized hypotonia 33 HP:0001290
7 encephalopathy 33 HP:0001298

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
brain atrophy
spasticity
developmental regression
encephalopathy
impaired psychomotor development
more
Growth Other:
failure to thrive

Metabolic Features:
lactic acidosis

Laboratory Abnormalities:
mitochondrial respiratory complex i deficiency in various tissues
increased lactate:pyruvate ratio

Head And Neck Eyes:
nystagmus
optic atrophy

Head And Neck Head:
microcephaly

Muscle Soft Tissue:
hypotonia
atrophic fibers
skeletal muscle biopsy shows variation in fiber size
subsarcolemmal accumulation of mitochondria

Cardiovascular Heart:
hypertrophic cardiomyopathy (in some patients)

Clinical features from OMIM:

618229

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 7

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 7

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 7

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 7:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 7 30 NDUFV2

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 7

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 7:

42
Liver, Brain, Skeletal Muscle

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 7

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 7:

# Title Authors Year
1
Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. ( 26008862 )
2015
2
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. ( 12754703 )
2003
3
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. ( 11220739 )
2001

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 7

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFV2 NM_021074.3(NDUFV2): c.120+5_120+8delGTAA deletion Pathogenic rs752670374 GRCh37 Chromosome 18, 9117906: 9117909
2 NDUFV2 NM_021074.3(NDUFV2): c.120+5_120+8delGTAA deletion Pathogenic rs752670374 GRCh38 Chromosome 18, 9117908: 9117911
3 NDUFV2 NM_021074.5(NDUFV2): c.669_670insG (p.Ser224Valfs) insertion Pathogenic GRCh38 Chromosome 18, 9134198: 9134199
4 NDUFV2 NM_021074.5(NDUFV2): c.669_670insG (p.Ser224Valfs) insertion Pathogenic GRCh37 Chromosome 18, 9134196: 9134197

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 7

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 7.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 7

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 7

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 7

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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