MC1DN6
MCID: MTC154
MIFTS: 21

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 57 74 29 6
Mc1dn6 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death
rapid progression and deterioration


HPO:

32
mitochondrial complex i deficiency, nuclear type 6:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

MeSH 44 D028361

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 6

UniProtKB/Swiss-Prot : 74 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

More information from OMIM: 618228 PS252010

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:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 brain atrophy 32 HP:0012444
2 nystagmus 32 HP:0000639
3 hyperreflexia 32 HP:0001347
4 failure to thrive 32 HP:0001508
5 respiratory insufficiency 32 HP:0002093
6 developmental regression 32 HP:0002376
7 abnormal pyramidal sign 32 HP:0007256
8 optic atrophy 32 HP:0000648
9 hypertrophic cardiomyopathy 32 HP:0001639
10 ventriculomegaly 32 HP:0002119
11 lactic acidosis 32 HP:0003128
12 lethargy 32 HP:0001254
13 muscular hypotonia of the trunk 32 HP:0008936

Symptoms via clinical synopsis from OMIM:

57
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

GenomeRNAi Phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 6 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.62 FCER1G NDUFS2

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 29 NDUFS2

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 6

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

41
Liver, Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 6

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

# Title Authors PMID Year
1
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. 8 71
11220739 2001
2
Effect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency. 8
11743516 2001

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 6

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NDUFS2 NM_004550.4(NDUFS2): c.683G> A (p.Arg228Gln) single nucleotide variant Pathogenic rs121434427 1:161179702-161179702 1:161209912-161209912
2 NDUFS2 NM_004550.4(NDUFS2): c.686C> A (p.Pro229Gln) single nucleotide variant Pathogenic rs121434428 1:161179705-161179705 1:161209915-161209915
3 NDUFS2 NM_004550.4(NDUFS2): c.1237T> C (p.Ser413Pro) single nucleotide variant Pathogenic rs121434429 1:161183463-161183463 1:161213673-161213673
4 NDUFS2 NM_004550.4(NDUFS2): c.934G> C (p.Asp312His) single nucleotide variant Uncertain significance 1:161180448-161180448 1:161210658-161210658

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

74
# 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

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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