MC1DN4
MCID: MTC153
MIFTS: 20

Mitochondrial Complex I Deficiency, Nuclear Type 4 (MC1DN4)

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 76 30 6
Mc1dn4 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
mitochondrial complex i deficiency, nuclear type 4:
Onset and clinical course infantile onset


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 4

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 4: 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. MC1DN4 transmission pattern is consistent with autosomal recessive inheritance.

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 liver and brain, and related phenotypes are brain atrophy and ptosis

Description from OMIM: 618225

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 4

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

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 4:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 brain atrophy 33 HP:0012444
2 ptosis 33 HP:0000508
3 seizures 33 HP:0001250
4 ataxia 33 HP:0001251
5 developmental regression 33 HP:0002376
6 global developmental delay 33 HP:0001263
7 strabismus 33 HP:0000486
8 myoclonus 33 HP:0001336
9 ophthalmoplegia 33 HP:0000602
10 lethargy 33 HP:0001254

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

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 4:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 4 30 NDUFV1

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 4

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

42
Liver, Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 4

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 4:

# Title Authors Year
1
Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system. ( 26345448 )
2015
2
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. ( 11349233 )
2001
3
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. ( 10080174 )
1999

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 4

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 4:

76
# Symbol AA change Variation ID SNP ID
1 NDUFV1 p.Ala341Val VAR_008846 rs121913660
2 NDUFV1 p.Thr423Met VAR_008847 rs121913659
3 NDUFV1 p.Glu214Lys VAR_019534 rs121913661

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 Pathogenic/Likely pathogenic rs199683937 GRCh37 Chromosome 11, 67379453: 67379453
8 NDUFV1 NM_007103.3(NDUFV1): c.1162+4A> C single nucleotide variant Pathogenic/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

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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