MC1DN27
MCID: MTC173
MIFTS: 18

Mitochondrial Complex I Deficiency, Nuclear Type 27 (MC1DN27)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 27

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 27:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 27 56 73
Mitochondrial Complex 1 Deficiency, Nuclear Type 27 29 6
Mc1dn27 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
two unrelated patients have been reported (last curated january 2019)


HPO:

31
mitochondrial complex i deficiency, nuclear type 27:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 56 618248
OMIM Phenotypic Series 56 PS252010
MeSH 43 D028361

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 27

UniProtKB/Swiss-Prot : 73 Mitochondrial complex I deficiency, nuclear type 27: 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. MC1DN27 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 27, is also known as mitochondrial complex 1 deficiency, nuclear type 27. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 27 is MTFMT (Mitochondrial Methionyl-TRNA Formyltransferase). Affiliated tissues include liver, and related phenotypes are global developmental delay and optic atrophy

More information from OMIM: 618248 PS252010

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 27

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 27

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 27:

31
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 optic atrophy 31 HP:0000648
3 spasticity 31 HP:0001257
4 generalized hypotonia 31 HP:0001290
5 neurogenic bladder 31 HP:0000011

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
optic atrophy
gaze palsy

Muscle Soft Tissue:
hypotonia

Genitourinary Bladder:
neurogenic bladder dysfunction

Neurologic Central Nervous System:
spasticity
developmental delay
impaired intellectual development
white matter abnormalities consistent with leigh syndrome

Laboratory Abnormalities:
mitochondrial complex i deficiency in various tissues

Clinical features from OMIM:

618248

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 27

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 27

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 27

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 27:

# Genetic test Affiliating Genes
1 Mitochondrial Complex 1 Deficiency, Nuclear Type 27 29 MTFMT

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 27

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 27:

40
Liver

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 27

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 27:

# Title Authors PMID Year
1
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 6 56
22499348 2012
2
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 6
24461907 2014
3
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT. 6
23499752 2013
4
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 6
21907147 2011

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 27

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 27:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MTFMT NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)SNV Pathogenic 39827 rs201431517 15:65313871-65313871 15:65021533-65021533
2 MTFMT NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter)SNV Pathogenic 39830 rs200286768 15:65295576-65295576 15:65003238-65003238

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 27:

73
# Symbol AA change Variation ID SNP ID
1 MTFMT p.Ser209Leu VAR_069304 rs201431517

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 27

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 27.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 27

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 27

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 27

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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