MC1DN31
MCID: MTC176
MIFTS: 14

Mitochondrial Complex I Deficiency, Nuclear Type 31 (MC1DN31)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 31

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 31:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 31 58 76 30 6
Mc1dn31 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death may occur
three unrelated families have been reported (last curated january 2019)


HPO:

33
mitochondrial complex i deficiency, nuclear type 31:
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 58 618251
MeSH 45 D028361
MedGen 43 CN257528

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 31

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 31: 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. MC1DN31 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 31, is also known as mc1dn31. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 31 is TIMMDC1 (Translocase Of Inner Mitochondrial Membrane Domain Containing 1). Affiliated tissues include liver, and related phenotypes are seizures and global developmental delay

Description from OMIM: 618251

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 31

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 31

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 31:

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 global developmental delay 33 HP:0001263
3 dysmetria 33 HP:0001310
4 progressive neurologic deterioration 33 HP:0002344

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus

Growth Other:
failure to thrive

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
mitochondrial complex i deficiency in various tissues

Neurologic Central Nervous System:
seizures
global developmental delay
dysmetria
neurologic deterioration
dyskinetic movements
more
Neurologic Peripheral Nervous System:
peripheral neuropathy

Head And Neck Ears:
sensorineural deafness

Clinical features from OMIM:

618251

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 31

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 31

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 31

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 31:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency, Nuclear Type 31 30 TIMMDC1

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 31

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 31:

42
Liver

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 31

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 31:

# Title Authors Year
1
Genetic diagnosis of Mendelian disorders via RNA sequencing. ( 28604674 )
2017

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 31

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 31:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TIMMDC1 NM_016589.3(TIMMDC1): c.597-1340A> G single nucleotide variant Pathogenic rs781525096 GRCh38 Chromosome 3, 119515865: 119515865
2 TIMMDC1 NM_016589.3(TIMMDC1): c.597-1340A> G single nucleotide variant Pathogenic rs781525096 GRCh37 Chromosome 3, 119234712: 119234712

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 31

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 31.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 31

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 31

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 31

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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