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 56 73
Mitochondrial Complex 1 Deficiency, Nuclear Type 6 29 6
Mc1dn6 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death
rapid progression and deterioration


HPO:

31
mitochondrial complex i deficiency, nuclear type 6:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 6

UniProtKB/Swiss-Prot : 73 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 mitochondrial complex 1 deficiency, nuclear type 6. 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 optic atrophy and developmental regression

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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 31 HP:0000648
2 developmental regression 31 HP:0002376
3 failure to thrive 31 HP:0001508
4 abnormal pyramidal sign 31 HP:0007256
5 hypertrophic cardiomyopathy 31 HP:0001639
6 nystagmus 31 HP:0000639
7 hyperreflexia 31 HP:0001347
8 respiratory insufficiency 31 HP:0002093
9 ventriculomegaly 31 HP:0002119
10 lethargy 31 HP:0001254
11 lactic acidosis 31 HP:0003128
12 brain atrophy 31 HP:0012444
13 muscular hypotonia of the trunk 31 HP:0008936

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
optic atrophy
nystagmus

Growth Other:
failure to thrive

Respiratory:
respiratory insufficiency

Muscle Soft Tissue:
axial hypotonia
peripheral hypertonia

Neurologic Central Nervous System:
developmental regression
hyperreflexia
lethargy
brain atrophy
enlarged ventricles
more
Cardiovascular Heart:
hypertrophic cardiomyopathy

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 1 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:

40
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. 56 6
11220739 2001
2
Effect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency. 56
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NDUFS2 NM_004550.4(NDUFS2):c.683G>A (p.Arg228Gln)SNV Pathogenic 6709 rs121434427 1:161179702-161179702 1:161209912-161209912
2 NDUFS2 NM_004550.4(NDUFS2):c.686C>A (p.Pro229Gln)SNV Pathogenic 6710 rs121434428 1:161179705-161179705 1:161209915-161209915
3 NDUFS2 NM_004550.4(NDUFS2):c.1237T>C (p.Ser413Pro)SNV Pathogenic 6711 rs121434429 1:161183463-161183463 1:161213673-161213673
4 NDUFS2 NM_004550.4(NDUFS2):c.968G>A (p.Arg323Gln)SNV Conflicting interpretations of pathogenicity 214787 rs35086265 1:161180482-161180482 1:161210692-161210692
5 NDUFS2 NM_004550.4(NDUFS2):c.1138C>G (p.His380Asp)SNV Uncertain significance 214795 rs144411579 1:161183191-161183191 1:161213401-161213401
6 NDUFS2 NM_004550.4(NDUFS2):c.934G>C (p.Asp312His)SNV Uncertain significance 638369 1:161180448-161180448 1:161210658-161210658
7 NDUFS2 NM_004550.4(NDUFS2):c.58C>A (p.Pro20Thr)SNV Benign 293269 rs11538340 1:161172233-161172233 1:161202443-161202443

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

73
# 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 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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