COXPD37
MCID: CMB087
MIFTS: 16

Combined Oxidative Phosphorylation Deficiency 37 (COXPD37)

Categories: Genetic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 37

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 37:

Name: Combined Oxidative Phosphorylation Deficiency 37 58 76 6
Coxpd37 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth or in first months of life
deterioration may be exacerbated by illness or fever
death in first months or years of life


Classifications:



External Ids:

OMIM 58 618329
MeSH 45 D028361
MedGen 43 CN258215

Summaries for Combined Oxidative Phosphorylation Deficiency 37

OMIM : 58 Combined oxidative phosphorylation deficiency-37 is an autosomal recessive multisystem disorder apparent at birth or in the first months of life. Affected individuals have hypotonia, failure to thrive, and neurodegeneration with loss of developmental milestones, as well as liver dysfunction. Some patients may have hypertrophic cardiomyopathy, loss of vision and hearing, and/or seizures. Mitochondrial respiratory dysfunction is apparent in liver and skeletal muscle tissue. Most patients die in childhood (summary by Zeharia et al., 2016). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (618329)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 37, is also known as coxpd37. An important gene associated with Combined Oxidative Phosphorylation Deficiency 37 is MICOS13 (Mitochondrial Contact Site And Cristae Organizing System Subunit 13). Affiliated tissues include liver, skeletal muscle and eye.

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 37: An autosomal recessive disorder due to mitochondrial dysfunction and characterized by hypotonia, failure to thrive, progressive neurodegeneration with neurologic deterioration after the first months of life, global developmental delay, as well as liver dysfunction. Some patients may have hypertrophic cardiomyopathy, loss of vision and hearing, and/or seizures. Death in first months or years of life is observed in most patients.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 37

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 37

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Respiratory:
respiratory insufficiency
respiratory failure

Head And Neck Eyes:
optic atrophy
retinal degeneration
poor eye contact
impaired vision
loss of eye contact

Muscle Soft Tissue:
hypotonia

Head And Neck Ears:
sensorineural deafness

Head And Neck Head:
microcephaly, acquired

Cardiovascular Heart:
hypertrophic cardiomyopathy (in some patients)

Metabolic Features:
hypothermia
hypoglycemia
lactic acidosis

Neurologic Central Nervous System:
global developmental delay
cerebellar atrophy
spasticity (in some patients)
seizures (in some patients)
head lag
more
Laboratory Abnormalities:
increased serum lactate
abnormal liver enzymes
increased serum alanine
increased urinary 3-methylglutaconic acid
mitochondrial respiratory deficiency of most enzyme complexes in liver and skeletal muscle tissue
more
Abdomen Gastrointestinal:
poor feeding

Abdomen Liver:
liver dysfunction
mitochondrial abnormalities in liver biopsy

Hematology:
coagulation defects due to liver disease

Genitourinary Kidneys:
renal calculi (1 patient)

Clinical features from OMIM:

618329

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 37

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 37

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 37

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 37

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 37:

42
Liver, Skeletal Muscle, Eye

Publications for Combined Oxidative Phosphorylation Deficiency 37

Articles related to Combined Oxidative Phosphorylation Deficiency 37:

# Title Authors Year
1
QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation. ( 29618761 )
2018
2
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease. ( 27623147 )
2016
3
Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit. ( 27485409 )
2016

Variations for Combined Oxidative Phosphorylation Deficiency 37

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 37:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MICOS13 NM_001308240.1(MICOS13): c.326-2A> G single nucleotide variant Uncertain significance rs1064797230 GRCh37 Chromosome 19, 5678661: 5678661
2 MICOS13 NM_001308240.1(MICOS13): c.326-2A> G single nucleotide variant Uncertain significance rs1064797230 GRCh38 Chromosome 19, 5678650: 5678650
3 MICOS13 NM_001308240.1(MICOS13): c.110del (p.Gly37Glufs) deletion Conflicting interpretations of pathogenicity GRCh38 Chromosome 19, 5679749: 5679749
4 MICOS13 NM_001308240.1(MICOS13): c.110del (p.Gly37Glufs) deletion Conflicting interpretations of pathogenicity GRCh37 Chromosome 19, 5679760: 5679760
5 MICOS13 NM_205767.2(MICOS13): c.30-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 19, 5679775: 5679775
6 MICOS13 NM_205767.2(MICOS13): c.30-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 19, 5679764: 5679764

Expression for Combined Oxidative Phosphorylation Deficiency 37

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 37.

Pathways for Combined Oxidative Phosphorylation Deficiency 37

GO Terms for Combined Oxidative Phosphorylation Deficiency 37

Sources for Combined Oxidative Phosphorylation Deficiency 37

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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