MCID: MTC166
MIFTS: 10

Mitochondrial Complex I Deficiency, Nuclear Type 19

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 19

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 19:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 19 58 6
Mc1dn19 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 618241

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 19

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 19, is also known as mc1dn19. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 19 is FOXRED1 (FAD Dependent Oxidoreductase Domain Containing 1). Affiliated tissues include brain.

Description from OMIM: 618241

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 19

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 19

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
myoclonus
inability to walk
rigidity
cerebellar atrophy
more
Skeletal Spine:
scoliosis

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Eyes:
optic atrophy (1 patient)
cortical blindness (1 patient)

Laboratory Abnormalities:
mitochondrial respiratory complex i deficiency in various tissues
increased serum and csf lactate

Respiratory:
respiratory insufficiency

Metabolic Features:
hypoglycemia
lactic acidosis

Muscle Soft Tissue:
hypotonia
ragged red fibers seen on muscle biopsy

Cardiovascular Heart:
hypertrophic cardiomyopathy (1 patient)

Head And Neck Head:
microcephaly, acquired

Clinical features from OMIM:

618241

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 19

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 19

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 19

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 19

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 19:

42
Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 19

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 19

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 19:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXRED1 NM_017547.3(FOXRED1): c.694C> T (p.Gln232Ter) single nucleotide variant Pathogenic rs267606829 GRCh37 Chromosome 11, 126145284: 126145284
2 FOXRED1 NM_017547.3(FOXRED1): c.694C> T (p.Gln232Ter) single nucleotide variant Pathogenic rs267606829 GRCh38 Chromosome 11, 126275389: 126275389
3 FOXRED1 NM_017547.3(FOXRED1): c.1289A> G (p.Asn430Ser) single nucleotide variant Pathogenic rs267606830 GRCh37 Chromosome 11, 126147412: 126147412
4 FOXRED1 NM_017547.3(FOXRED1): c.1289A> G (p.Asn430Ser) single nucleotide variant Pathogenic rs267606830 GRCh38 Chromosome 11, 126277517: 126277517
5 FOXRED1 NM_017547.3(FOXRED1): c.1054C> T (p.Arg352Trp) single nucleotide variant Pathogenic rs387907087 GRCh37 Chromosome 11, 126146371: 126146371
6 FOXRED1 NM_017547.3(FOXRED1): c.1054C> T (p.Arg352Trp) single nucleotide variant Pathogenic rs387907087 GRCh38 Chromosome 11, 126276476: 126276476

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 19

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 19.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 19

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 19

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 19

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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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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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