MC1DN19
MCID: MTC166
MIFTS: 23

Mitochondrial Complex I Deficiency, Nuclear Type 19 (MC1DN19)

Categories: Genetic diseases, Metabolic 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 57 72
Mc1dn19 57 12 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 19 29 6
Nuclear Type Mitochondrial Complex I Deficiency 19 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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 19:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 19

UniProtKB/Swiss-Prot : 72 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 brain, and related phenotypes are optic atrophy and hypertrophic cardiomyopathy

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compound heterozygous mutation in FOXRED1 on chromosome 11q24.2.

More information from OMIM: 618241 PS252010

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:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 31 very rare (1%) HP:0000648
2 hypertrophic cardiomyopathy 31 very rare (1%) HP:0001639
3 cerebral visual impairment 31 very rare (1%) HP:0100704
4 scoliosis 31 HP:0002650
5 respiratory insufficiency 31 HP:0002093
6 global developmental delay 31 HP:0001263
7 hypoglycemia 31 HP:0001943
8 myoclonus 31 HP:0001336
9 ventriculomegaly 31 HP:0002119
10 lactic acidosis 31 HP:0003128
11 feeding difficulties 31 HP:0011968
12 cerebellar atrophy 31 HP:0001272
13 rigidity 31 HP:0002063
14 postnatal microcephaly 31 HP:0005484
15 athetosis 31 HP:0002305
16 generalized hypotonia 31 HP:0001290
17 inability to walk 31 HP:0002540
18 poor speech 31 HP:0002465
19 delayed myelination 31 HP:0012448
20 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
myoclonus
cerebellar atrophy
rigidity
inability to walk
more
Respiratory:
respiratory insufficiency

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

Skeletal Spine:
scoliosis

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 (Updated 20-May-2021)

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

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 19:

# Genetic test Affiliating Genes
1 Mitochondrial Complex 1 Deficiency, Nuclear Type 19 29 FOXRED1

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 19

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

40
Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 19

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

# Title Authors PMID Year
1
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. 6 57
20858599 2010
2
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 6 57
20818383 2010

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 19

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

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOXRED1 NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter) SNV Pathogenic 5 rs267606829 GRCh37: 11:126145284-126145284
GRCh38: 11:126275389-126275389
2 FOXRED1 NM_017547.4(FOXRED1):c.1289A>G (p.Asn430Ser) SNV Pathogenic 6 rs267606830 GRCh37: 11:126147412-126147412
GRCh38: 11:126277517-126277517
3 FOXRED1 NM_017547.4(FOXRED1):c.1054C>T (p.Arg352Trp) SNV Pathogenic 31048 rs387907087 GRCh37: 11:126146371-126146371
GRCh38: 11:126276476-126276476
4 FOXRED1 NM_017547.4(FOXRED1):c.1261G>A (p.Val421Met) SNV Pathogenic 870426 GRCh37: 11:126147384-126147384
GRCh38: 11:126277489-126277489
5 FOXRED1 NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) Duplication Pathogenic 95754 rs398124308 GRCh37: 11:126144895-126144896
GRCh38: 11:126275000-126275001
6 FOXRED1 NM_017547.4(FOXRED1):c.1057G>T (p.Glu353Ter) SNV Likely pathogenic 981124 GRCh37: 11:126146374-126146374
GRCh38: 11:126276479-126276479
7 FOXRED1 NM_017547.4(FOXRED1):c.86-1G>A SNV Likely pathogenic 214454 rs768720209 GRCh37: 11:126141331-126141331
GRCh38: 11:126271436-126271436
8 FOXRED1 NM_017547.4(FOXRED1):c.209G>C (p.Gly70Ala) SNV Likely pathogenic 915282 GRCh37: 11:126141455-126141455
GRCh38: 11:126271560-126271560
9 FOXRED1 NM_017547.4(FOXRED1):c.874G>A (p.Gly292Arg) SNV Uncertain significance 449732 rs749110767 GRCh37: 11:126146017-126146017
GRCh38: 11:126276122-126276122
10 FOXRED1 NM_017547.4(FOXRED1):c.943A>G (p.Thr315Ala) SNV Uncertain significance 1029471 GRCh37: 11:126146086-126146086
GRCh38: 11:126276191-126276191
11 FOXRED1 NM_017547.4(FOXRED1):c.972-3C>A SNV Uncertain significance 931237 GRCh37: 11:126146286-126146286
GRCh38: 11:126276391-126276391

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

72
# Symbol AA change Variation ID SNP ID
1 FOXRED1 p.Asn430Ser VAR_064571 rs267606830
2 FOXRED1 p.Arg352Trp VAR_073273 rs387907087

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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