MCID: MTC153
MIFTS: 9

Mitochondrial Complex I Deficiency, Nuclear Type 4

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 4

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 4:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 4 58 6
Mc1dn4 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death may occur
episodic decompensation and regression


Classifications:



External Ids:

OMIM 58 618225

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 4

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 4, is also known as mc1dn4. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 4 is NDUFV1 (NADH:Ubiquinone Oxidoreductase Core Subunit V1). Affiliated tissues include brain.

Description from OMIM: 618225

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 4

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 4

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
brain atrophy
seizures
developmental regression
global developmental delay
myoclonus
more
Abdomen Gastrointestinal:
vomiting

Metabolic Features:
metabolic acidosis

Laboratory Abnormalities:
mitochondrial respiratory complex i deficiency in various tissues
increased serum and csf lactate

Head And Neck Eyes:
ptosis
strabismus
ophthalmoplegia

Respiratory:
apnea

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

618225

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 4

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 4

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 4

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 4

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 4:

42
Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 4

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 4

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFV1 NM_007103.3(NDUFV1): c.1268C> T (p.Thr423Met) single nucleotide variant Pathogenic/Likely pathogenic rs121913659 GRCh37 Chromosome 11, 67379696: 67379696
2 NDUFV1 NM_007103.3(NDUFV1): c.1268C> T (p.Thr423Met) single nucleotide variant Pathogenic/Likely pathogenic rs121913659 GRCh38 Chromosome 11, 67612225: 67612225
3 NDUFV1 NM_007103.3(NDUFV1): c.175C> T (p.Arg59Ter) single nucleotide variant Pathogenic rs768050261 GRCh38 Chromosome 11, 67608571: 67608571
4 NDUFV1 NM_007103.3(NDUFV1): c.175C> T (p.Arg59Ter) single nucleotide variant Pathogenic rs768050261 GRCh37 Chromosome 11, 67376042: 67376042
5 NDUFV1 NM_007103.3(NDUFV1): c.640G> A (p.Glu214Lys) single nucleotide variant Likely pathogenic rs121913661 GRCh37 Chromosome 11, 67377981: 67377981
6 NDUFV1 NM_007103.3(NDUFV1): c.640G> A (p.Glu214Lys) single nucleotide variant Likely pathogenic rs121913661 GRCh38 Chromosome 11, 67610510: 67610510
7 NDUFV1 NM_007103.3(NDUFV1): c.1162+4A> C single nucleotide variant Likely pathogenic rs199683937 GRCh37 Chromosome 11, 67379453: 67379453
8 NDUFV1 NM_007103.3(NDUFV1): c.1162+4A> C single nucleotide variant Likely pathogenic rs199683937 GRCh38 Chromosome 11, 67611982: 67611982

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 4

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 4.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 4

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 4

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
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35 ICD10 via Orphanet
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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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