MC1DN28
MCID: MTC174
MIFTS: 17

Mitochondrial Complex I Deficiency, Nuclear Type 28 (MC1DN28)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 28

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 28:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 28 58 76 30 6
Mc1dn28 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
slowly progressive
one consanguineous turkish family has been reported (last curated january 2019)


HPO:

33
mitochondrial complex i deficiency, nuclear type 28:
Onset and clinical course infantile onset slow progression


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 28

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 28: 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. MC1DN28 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 28, is also known as mc1dn28. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 28 is NDUFA13 (NADH:Ubiquinone Oxidoreductase Subunit A13). Affiliated tissues include liver and eye, and related phenotypes are abnormality of eye movement and abnormal pyramidal sign

Description from OMIM: 618249

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 28

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 28

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 28:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 abnormality of eye movement 33 HP:0000496
2 abnormal pyramidal sign 33 HP:0007256
3 hearing impairment 33 HP:0000365
4 global developmental delay 33 HP:0001263
5 dyskinesia 33 HP:0100660
6 optic atrophy 33 HP:0000648
7 increased serum lactate 33 HP:0002151
8 optic neuropathy 33 HP:0001138
9 choreoathetosis 33 HP:0001266
10 lower limb spasticity 33 HP:0002061
11 hyperalaninemia 33 HP:0003348
12 poor head control 33 HP:0002421
13 poor speech 33 HP:0002465
14 poor eye contact 33 HP:0000817

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Head And Neck Eyes:
optic atrophy
optic neuropathy
poor eye contact
abnormal eye movements

Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
global developmental delay
dyskinesia
lower limb spasticity
poor head control
poor speech
more
Laboratory Abnormalities:
increased serum lactate
increased serum alanine
mitochondrial complex i deficiency in various tissues

Head And Neck Ears:
hearing loss
auditory neuropathy

Clinical features from OMIM:

618249

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 28

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 28

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 28

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 28:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 28 30 NDUFA13

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 28

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 28:

42
Liver, Eye

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 28

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 28:

# Title Authors Year
1
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. ( 25901006 )
2015

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 28

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 28:

76
# Symbol AA change Variation ID SNP ID
1 NDUFA13 p.Arg57His VAR_078938 rs752513525

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 28:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFA13 NM_015965.6(NDUFA13): c.170G> A (p.Arg57His) single nucleotide variant Pathogenic rs752513525 GRCh38 Chromosome 19, 19526257: 19526257
2 NDUFA13 NM_015965.6(NDUFA13): c.170G> A (p.Arg57His) single nucleotide variant Pathogenic rs752513525 GRCh37 Chromosome 19, 19637066: 19637066

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 28

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 28.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 28

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 28

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 28

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
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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