MC1DN33
MCID: MTC178
MIFTS: 20

Mitochondrial Complex I Deficiency, Nuclear Type 33 (MC1DN33)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 33

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 33:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 33 57 72
Mc1dn33 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 33 29 6
Nuclear Type Mitochondrial Complex I Deficiency 33 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
early death may occur
onset in the first days, months, or years
symptoms may be aggravated by concurrent infection


HPO:

31
mitochondrial complex i deficiency, nuclear type 33:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 33

UniProtKB/Swiss-Prot : 72 Mitochondrial complex I deficiency, nuclear type 33: 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. MC1DN33 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 33, is also known as mc1dn33. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 33 is NDUFA6 (NADH:Ubiquinone Oxidoreductase Subunit A6). Related phenotypes are optic atrophy and abnormality of the cerebral white matter

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compound heterozygous mutation in NDUFA6 on chromosome 22q13.2.

More information from OMIM: 618253 PS252010

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 33

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 33

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 33:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 31 very rare (1%) HP:0000648
2 abnormality of the cerebral white matter 31 very rare (1%) HP:0002500
3 spasticity 31 HP:0001257
4 dysphagia 31 HP:0002015
5 respiratory insufficiency 31 HP:0002093
6 global developmental delay 31 HP:0001263
7 hypoglycemia 31 HP:0001943
8 intrauterine growth retardation 31 HP:0001511
9 ventriculomegaly 31 HP:0002119
10 hyperammonemia 31 HP:0001987
11 cerebellar hypoplasia 31 HP:0001321
12 encephalopathy 31 HP:0001298
13 metabolic acidosis 31 HP:0001942
14 progressive neurologic deterioration 31 HP:0002344
15 generalized hypotonia 31 HP:0001290
16 poor speech 31 HP:0002465
17 mutism 31 HP:0002300

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
global developmental delay
cerebellar hypoplasia
encephalopathy
poor speech
more
Respiratory:
respiratory insufficiency

Growth Other:
intrauterine growth retardation

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
dysphagia
tube feeding

Metabolic Features:
hypoglycemia
metabolic acidosis

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

Head And Neck Eyes:
optic atrophy (in some patients)

Clinical features from OMIM®:

618253 (Updated 20-May-2021)

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 33

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 33

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 33

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 33:

# Genetic test Affiliating Genes
1 Mitochondrial Complex 1 Deficiency, Nuclear Type 33 29 NDUFA6

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 33

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 33

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 33:

# Title Authors PMID Year
1
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. 6 57
30245030 2018

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 33

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 33:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDUFA6 NM_002490.6(NDUFA6):c.191G>C (p.Arg64Pro) SNV Pathogenic 487477 rs750830935 GRCh37: 22:42483128-42483128
GRCh38: 22:42087124-42087124
2 NDUFA6 NM_002490.6(NDUFA6):c.265G>T (p.Glu89Ter) SNV Pathogenic 487478 rs758833609 GRCh37: 22:42482309-42482309
GRCh38: 22:42086305-42086305
3 NDUFA6 NM_002490.6(NDUFA6):c.331_332del (p.Glu111fs) Deletion Pathogenic 487475 rs1569463838 GRCh37: 22:42482242-42482243
GRCh38: 22:42086238-42086239
4 NDUFA6 NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile) SNV Pathogenic 487476 rs1023075742 GRCh37: 22:42486746-42486746
GRCh38: 22:42090742-42090742
5 NDUFA6 NM_002490.6(NDUFA6):c.309del (p.Met104fs) Deletion Pathogenic 549665 rs763006208 GRCh37: 22:42482265-42482265
GRCh38: 22:42086261-42086261
6 NDUFA6 NM_002490.6(NDUFA6):c.355del (p.Leu119fs) Deletion Pathogenic 549666 rs781099275 GRCh37: 22:42482219-42482219
GRCh38: 22:42086215-42086215

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 33:

72
# Symbol AA change Variation ID SNP ID
1 NDUFA6 p.Arg64Pro VAR_081470

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 33

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 33.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 33

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 33

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 33

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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