MC1DN7
MCID: MTC155
MIFTS: 20

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 56 73
Mitochondrial Complex 1 Deficiency, Nuclear Type 7 29 6
Mc1dn7 56 73

Characteristics:

OMIM:

56
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 : 73 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 mitochondrial complex 1 deficiency, nuclear type 7. 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 hypertrophic cardiomyopathy and microcephaly

More information from OMIM: 618229 PS252010

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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 31 very rare (1%) HP:0001639
2 microcephaly 31 HP:0000252
3 optic atrophy 31 HP:0000648
4 developmental regression 31 HP:0002376
5 failure to thrive 31 HP:0001508
6 spasticity 31 HP:0001257
7 nystagmus 31 HP:0000639
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:

56
Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
developmental regression
spasticity
encephalopathy
brain atrophy
impaired psychomotor development
more
Metabolic Features:
lactic acidosis

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

Head And Neck Eyes:
optic atrophy
nystagmus

Growth Other:
failure to thrive

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 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
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 PMID Year
1
Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. 6 56
26008862 2015
2
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. 6 56
12754703 2003
3
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. 56 6
11220739 2001
4
Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects. 56
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 GRCh37 Pos GRCh38 Pos
1 NDUFV2 NM_021074.5(NDUFV2):c.669_670insG (p.Ser224fs)insertion Pathogenic 617494 rs772188600 18:9134196-9134197 18:9134198-9134199
2 NDUFV2 NM_021074.5(NDUFV2):c.120+5_120+8delshort repeat Pathogenic 279920 rs752670374 18:9117902-9117905 18:9117904-9117907
3 NDUFV2 NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala)SNV Benign 9054 rs906807 18:9117867-9117867 18:9117869-9117869
4 NDUFV2 NM_021074.5(NDUFV2):c.201A>T (p.Val67=)SNV Benign 129703 rs41274300 18:9119489-9119489 18:9119491-9119491

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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