MC1DN31
MCID: MTC176
MIFTS: 19

Mitochondrial Complex I Deficiency, Nuclear Type 31 (MC1DN31)

Categories: Genetic diseases, Metabolic 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 57 72
Mc1dn31 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 31 29 6
Nuclear Type Mitochondrial Complex I Deficiency 31 12

Characteristics:

OMIM®:

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

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


HPO:

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


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 31

UniProtKB/Swiss-Prot : 72 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). Related phenotypes are failure to thrive and nystagmus

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compound heterozygous mutation in TIMMDC1 on chromosome 3q13.33.

More information from OMIM: 618251 PS252010

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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 nystagmus 31 HP:0000639
3 global developmental delay 31 HP:0001263
4 sensorineural hearing impairment 31 HP:0000407
5 dysmetria 31 HP:0001310
6 peripheral neuropathy 31 HP:0009830
7 progressive neurologic deterioration 31 HP:0002344
8 generalized hypotonia 31 HP:0001290
9 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
global developmental delay
dysmetria
neurologic deterioration
dyskinetic movements
more
Head And Neck Eyes:
nystagmus

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
mitochondrial complex i deficiency in various tissues

Growth Other:
failure to thrive

Neurologic Peripheral Nervous System:
peripheral neuropathy

Head And Neck Ears:
sensorineural deafness

Clinical features from OMIM®:

618251 (Updated 20-May-2021)

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 1 Deficiency, Nuclear Type 31 29 TIMMDC1

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 31

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 31

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

# Title Authors PMID Year
1
Genetic diagnosis of Mendelian disorders via RNA sequencing. 6 57
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 Name Type Significance ClinVarId dbSNP ID Position
1 TIMMDC1 NM_016589.4(TIMMDC1):c.385C>T (p.Arg129Ter) SNV Pathogenic 983214 rs970547270 GRCh37: 3:119222403-119222403
GRCh38: 3:119503556-119503556
2 TIMMDC1 NM_016589.4(TIMMDC1):c.597-1340A>G SNV Pathogenic 429020 rs781525096 GRCh37: 3:119234712-119234712
GRCh38: 3:119515865-119515865
3 TIMMDC1 NM_016589.4(TIMMDC1):c.524C>T (p.Thr175Met) SNV Likely pathogenic 807710 rs370482859 GRCh37: 3:119232494-119232494
GRCh38: 3:119513647-119513647
4 TIMMDC1 NM_016589.4(TIMMDC1):c.-2C>T SNV Uncertain significance 1030567 GRCh37: 3:119217579-119217579
GRCh38: 3:119498732-119498732
5 TIMMDC1 NM_016589.4(TIMMDC1):c.361-5T>G SNV Uncertain significance 1030568 GRCh37: 3:119222374-119222374
GRCh38: 3:119503527-119503527
6 TIMMDC1 NM_016589.4(TIMMDC1):c.598A>G (p.Thr200Ala) SNV Uncertain significance 809523 rs200592275 GRCh37: 3:119236053-119236053
GRCh38: 3:119517206-119517206

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
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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