MC1DN28
MCID: MTC174
MIFTS: 19

Mitochondrial Complex I Deficiency, Nuclear Type 28 (MC1DN28)

Categories: Genetic diseases, Metabolic 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 57 72
Mc1dn28 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 28 29 6
Nuclear Type Mitochondrial Complex I Deficiency 28 12

Characteristics:

OMIM®:

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

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


HPO:

31
mitochondrial complex i deficiency, nuclear type 28:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset slow progression


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 28

UniProtKB/Swiss-Prot : 72 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 eye, and related phenotypes are failure to thrive and abnormal pyramidal sign

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compound heterozygous mutation in NDUFA13 on chromosome 19p13.11.

More information from OMIM: 618249 PS252010

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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 abnormal pyramidal sign 31 HP:0007256
3 abnormality of eye movement 31 HP:0000496
4 hearing impairment 31 HP:0000365
5 global developmental delay 31 HP:0001263
6 dyskinesia 31 HP:0100660
7 optic atrophy 31 HP:0000648
8 increased serum lactate 31 HP:0002151
9 poor eye contact 31 HP:0000817
10 optic neuropathy 31 HP:0001138
11 poor head control 31 HP:0002421
12 choreoathetosis 31 HP:0001266
13 generalized hypotonia 31 HP:0001290
14 lower limb spasticity 31 HP:0002061
15 hyperalaninemia 31 HP:0003348
16 poor speech 31 HP:0002465

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

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

Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
global developmental delay
dyskinesia
poor head control
lower limb spasticity
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 (Updated 20-May-2021)

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 1 Deficiency, Nuclear Type 28 29 NDUFA13

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 28

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

40
Eye

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 28

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

# Title Authors PMID Year
1
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. 57 6
25901006 2015

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 28

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDUFA13 NM_015965.7(NDUFA13):c.170G>A (p.Arg57His) SNV Pathogenic 132643 rs752513525 GRCh37: 19:19637066-19637066
GRCh38: 19:19526257-19526257

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

72
# Symbol AA change Variation ID SNP ID
1 NDUFA13 p.Arg57His VAR_078938 rs752513525

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
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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