MCID: MTC173
MIFTS: 8

Mitochondrial Complex I Deficiency, Nuclear Type 27

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 6
Mc1dn27 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 58 618248

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 27

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).

Description from OMIM: 618248

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 27

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

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

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 27

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 27

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

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70 SNOMED-CT via HPO
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72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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