MC1DN19
MCID: MTC166
MIFTS: 19

Mitochondrial Complex I Deficiency, Nuclear Type 19 (MC1DN19)

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 76 6
Mc1dn19 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 19:
Onset and clinical course infantile onset


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 19

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, nuclear type 19: 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. MC1DN19 transmission pattern is consistent with autosomal recessive inheritance.

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 liver and brain, and related phenotypes are optic atrophy and cerebral visual impairment

Description from OMIM: 618241

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 19

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

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 19:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 33 very rare (1%) HP:0000648
2 cerebral visual impairment 33 very rare (1%) HP:0100704
3 seizures 33 HP:0001250
4 global developmental delay 33 HP:0001263
5 hypoglycemia 33 HP:0001943
6 myoclonus 33 HP:0001336
7 inability to walk 33 HP:0002540
8 ventriculomegaly 33 HP:0002119
9 lactic acidosis 33 HP:0003128
10 rigidity 33 HP:0002063
11 cerebellar atrophy 33 HP:0001272
12 generalized hypotonia 33 HP:0001290
13 athetosis 33 HP:0002305
14 poor speech 33 HP:0002465
15 delayed myelination 33 HP:0012448

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
Liver, Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 19

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 19:

# Title Authors Year
1
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. ( 20858599 )
2010
2
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. ( 20818383 )
2010

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 19

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 19:

76
# Symbol AA change Variation ID SNP ID
1 FOXRED1 p.Asn430Ser VAR_064571 rs267606830
2 FOXRED1 p.Arg352Trp VAR_073273 rs387907087

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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75 UMLS via Orphanet
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