MC1DN6
MCID: MTC154
MIFTS: 18

Mitochondrial Complex I Deficiency, Nuclear Type 6 (MC1DN6)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 6

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 6:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 6 58 76 30 6
Mc1dn6 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death
rapid progression and deterioration


HPO:

33
mitochondrial complex i deficiency, nuclear type 6:
Onset and clinical course infantile onset


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 6

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 6: 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. MC1DN6 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 6, is also known as mc1dn6. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 6 is NDUFS2 (NADH:Ubiquinone Oxidoreductase Core Subunit S2). Affiliated tissues include liver and brain, and related phenotypes are brain atrophy and nystagmus

Description from OMIM: 618228

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 6

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 6

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 6:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 brain atrophy 33 HP:0012444
2 nystagmus 33 HP:0000639
3 hyperreflexia 33 HP:0001347
4 developmental regression 33 HP:0002376
5 abnormal pyramidal sign 33 HP:0007256
6 optic atrophy 33 HP:0000648
7 ventriculomegaly 33 HP:0002119
8 lethargy 33 HP:0001254
9 muscular hypotonia of the trunk 33 HP:0008936

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
brain atrophy
hyperreflexia
developmental regression
lethargy
enlarged ventricles
more
Growth Other:
failure to thrive

Cardiovascular Heart:
hypertrophic cardiomyopathy

Muscle Soft Tissue:
axial hypotonia
peripheral hypertonia

Head And Neck Eyes:
nystagmus
optic atrophy

Respiratory:
respiratory insufficiency

Metabolic Features:
lactic acidosis

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

Clinical features from OMIM:

618228

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 6

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 6

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 6

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 6:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 6 30 NDUFS2

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 6

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 6:

42
Liver, Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 6

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 6:

# Title Authors Year
1
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. ( 11220739 )
2001

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 6

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 6:

76
# Symbol AA change Variation ID SNP ID
1 NDUFS2 p.Arg228Gln VAR_019535 rs121434427
2 NDUFS2 p.Pro229Gln VAR_019536 rs121434428
3 NDUFS2 p.Ser413Pro VAR_019537 rs121434429

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFS2 NM_004550.4(NDUFS2): c.683G> A (p.Arg228Gln) single nucleotide variant Pathogenic rs121434427 GRCh37 Chromosome 1, 161179702: 161179702
2 NDUFS2 NM_004550.4(NDUFS2): c.683G> A (p.Arg228Gln) single nucleotide variant Pathogenic rs121434427 GRCh38 Chromosome 1, 161209912: 161209912
3 NDUFS2 NM_004550.4(NDUFS2): c.686C> A (p.Pro229Gln) single nucleotide variant Pathogenic rs121434428 GRCh37 Chromosome 1, 161179705: 161179705
4 NDUFS2 NM_004550.4(NDUFS2): c.686C> A (p.Pro229Gln) single nucleotide variant Pathogenic rs121434428 GRCh38 Chromosome 1, 161209915: 161209915
5 NDUFS2 NM_004550.4(NDUFS2): c.1237T> C (p.Ser413Pro) single nucleotide variant Pathogenic rs121434429 GRCh37 Chromosome 1, 161183463: 161183463
6 NDUFS2 NM_004550.4(NDUFS2): c.1237T> C (p.Ser413Pro) single nucleotide variant Pathogenic rs121434429 GRCh38 Chromosome 1, 161213673: 161213673

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 6

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 6.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 6

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 6

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 6

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
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47 MGI
50 NCI
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52 NDF-RT
55 NINDS
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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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