MC1DN27
MCID: MTC173
MIFTS: 15

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 58 76 6
Mc1dn27 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
mitochondrial complex i deficiency, nuclear type 27:
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 58 618248
MeSH 45 D028361
MedGen 43 CN257525

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 27

UniProtKB/Swiss-Prot : 76 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 mc1dn27. 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 spasticity and global developmental delay

Description from OMIM: 618248

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:

33
# Description HPO Frequency HPO Source Accession
1 spasticity 33 HP:0001257
2 global developmental delay 33 HP:0001263
3 optic atrophy 33 HP:0000648

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
developmental delay
impaired intellectual development
white matter abnormalities consistent with leigh syndrome

Muscle Soft Tissue:
hypotonia

Genitourinary Bladder:
neurogenic bladder dysfunction

Head And Neck Eyes:
optic atrophy
gaze palsy

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

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 27

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

42
Liver

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 27

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

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

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 27

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

76
# Symbol AA change Variation ID SNP ID
1 MTFMT p.Ser209Leu VAR_069304 rs201431517

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MTFMT NM_139242.3(MTFMT): c.626C> T (p.Ser209Leu) single nucleotide variant Pathogenic/Likely pathogenic rs201431517 GRCh37 Chromosome 15, 65313871: 65313871
2 MTFMT NM_139242.3(MTFMT): c.626C> T (p.Ser209Leu) single nucleotide variant Pathogenic/Likely pathogenic rs201431517 GRCh38 Chromosome 15, 65021533: 65021533
3 MTFMT NM_139242.3(MTFMT): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs200286768 GRCh37 Chromosome 15, 65295576: 65295576
4 MTFMT NM_139242.3(MTFMT): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs200286768 GRCh38 Chromosome 15, 65003238: 65003238

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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
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35 ICD10 via Orphanet
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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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