MC1DN7
MCID: MTC155
MIFTS: 24

Mitochondrial Complex I Deficiency, Nuclear Type 7 (MC1DN7)

Categories: Genetic diseases, Metabolic 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 57 72
Mc1dn7 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 7 29 6
Nuclear Type Mitochondrial Complex I Deficiency 7 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
early death may occur
variable features


HPO:

31
mitochondrial complex i deficiency, nuclear type 7:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 7

UniProtKB/Swiss-Prot : 72 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, also known as mc1dn7, is related to mitochondrial complex i deficiency, nuclear type 1 and leigh syndrome. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 7 is NDUFV2 (NADH:Ubiquinone Oxidoreductase Core Subunit V2). Affiliated tissues include brain and skeletal muscle, and related phenotypes are hypertrophic cardiomyopathy and spasticity

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compound heterozygous mutation in NDUFV2 on chromosome 18p11.22.

More information from OMIM: 618229 PS252010

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 7

Diseases related to Mitochondrial Complex I Deficiency, Nuclear Type 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mitochondrial complex i deficiency, nuclear type 1 9.6 NDUFV2-AS1 NDUFV2
2 leigh syndrome 9.5 NDUFV2-AS1 NDUFV2

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

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

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 31 very rare (1%) HP:0001639
2 spasticity 31 HP:0001257
3 failure to thrive 31 HP:0001508
4 nystagmus 31 HP:0000639
5 developmental regression 31 HP:0002376
6 microcephaly 31 HP:0000252
7 optic atrophy 31 HP:0000648
8 encephalopathy 31 HP:0001298
9 lactic acidosis 31 HP:0003128
10 generalized hypotonia 31 HP:0001290
11 brain atrophy 31 HP:0012444

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
developmental regression
encephalopathy
brain atrophy
impaired psychomotor development
more
Head And Neck Eyes:
nystagmus
optic atrophy

Metabolic Features:
lactic acidosis

Cardiovascular Heart:
hypertrophic cardiomyopathy (in some patients)

Growth Other:
failure to thrive

Head And Neck Head:
microcephaly

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

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

Clinical features from OMIM®:

618229 (Updated 20-May-2021)

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 1 Deficiency, Nuclear Type 7 29 NDUFV2

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 7

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

40
Brain, Skeletal Muscle

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 7

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

# Title Authors PMID Year
1
Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. 6 57
26008862 2015
2
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. 6 57
12754703 2003
3
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. 57 6
11220739 2001
4
Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects. 57
19167255 2009

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 7

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDUFV2 NM_021074.5(NDUFV2):c.120+5_120+8del Microsatellite Pathogenic 279920 rs752670374 GRCh37: 18:9117902-9117905
GRCh38: 18:9117904-9117907
2 NDUFV2 , NDUFV2-AS1 NM_021074.5(NDUFV2):c.669_670insG (p.Ser224fs) Insertion Pathogenic 617494 rs772188600 GRCh37: 18:9134196-9134197
GRCh38: 18:9134198-9134199
3 NDUFV2 NM_021074.5(NDUFV2):c.17C>G (p.Ala6Gly) SNV Uncertain significance 327876 rs559485096 GRCh37: 18:9102758-9102758
GRCh38: 18:9102760-9102760
4 NDUFV2 NM_021074.5(NDUFV2):c.201A>T (p.Val67=) SNV Benign 129703 rs41274300 GRCh37: 18:9119489-9119489
GRCh38: 18:9119491-9119491
5 NDUFV2 NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) SNV Benign 9054 rs906807 GRCh37: 18:9117867-9117867
GRCh38: 18:9117869-9117869

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
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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