COXPD37
MCID: CMB087
MIFTS: 23

Combined Oxidative Phosphorylation Deficiency 37 (COXPD37)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 37

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 37:

Name: Combined Oxidative Phosphorylation Deficiency 37 57 12 72 29 6
Coxpd37 57 12 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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


HPO:

31
combined oxidative phosphorylation deficiency 37:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 37

OMIM® : 57 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) (Updated 20-May-2021)

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, and related phenotypes are spasticity and hyperreflexia

Disease Ontology : 12 A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has material basis in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3.

UniProtKB/Swiss-Prot : 72 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

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 37:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 very rare (1%) HP:0001257
2 hyperreflexia 31 very rare (1%) HP:0001347
3 hypertrophic cardiomyopathy 31 very rare (1%) HP:0001639
4 nephrolithiasis 31 very rare (1%) HP:0000787
5 seizure 31 very rare (1%) HP:0001250
6 failure to thrive 31 HP:0001508
7 hypothermia 31 HP:0002045
8 global developmental delay 31 HP:0001263
9 sensorineural hearing impairment 31 HP:0000407
10 visual impairment 31 HP:0000505
11 optic atrophy 31 HP:0000648
12 hypoglycemia 31 HP:0001943
13 elevated hepatic transaminase 31 HP:0002910
14 increased serum lactate 31 HP:0002151
15 respiratory failure 31 HP:0002878
16 poor eye contact 31 HP:0000817
17 lactic acidosis 31 HP:0003128
18 feeding difficulties 31 HP:0011968
19 cerebellar atrophy 31 HP:0001272
20 postnatal microcephaly 31 HP:0005484
21 retinal degeneration 31 HP:0000546
22 generalized hypotonia 31 HP:0001290
23 hyperalaninemia 31 HP:0003348
24 decreased liver function 31 HP:0001410

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Respiratory:
respiratory insufficiency
respiratory failure

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

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
poor feeding

Abdomen Liver:
liver dysfunction
mitochondrial abnormalities in liver biopsy

Hematology:
coagulation defects due to liver disease

Metabolic Features:
hypothermia
hypoglycemia
lactic acidosis

Neurologic Central Nervous System:
global developmental delay
cerebellar atrophy
seizures (in some patients)
spasticity (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
Head And Neck Ears:
sensorineural deafness

Cardiovascular Heart:
hypertrophic cardiomyopathy (in some patients)

Head And Neck Head:
microcephaly, acquired

Genitourinary Kidneys:
renal calculi (1 patient)

Clinical features from OMIM®:

618329 (Updated 20-May-2021)

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

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 37:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 37 29 MICOS13

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 37

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

40
Liver, Skeletal Muscle, Eye

Publications for Combined Oxidative Phosphorylation Deficiency 37

Articles related to Combined Oxidative Phosphorylation Deficiency 37:

# Title Authors PMID Year
1
QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation. 57 6
29618761 2018
2
Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit. 6 57
27485409 2016
3
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease. 6 57
27623147 2016

Variations for Combined Oxidative Phosphorylation Deficiency 37

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 37:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MICOS13 NM_001308240.1(MICOS13):c.110del (p.Gly37fs) Deletion Pathogenic 617631 rs1568293814 GRCh37: 19:5679760-5679760
GRCh38: 19:5679749-5679749
2 MICOS13 NM_205767.2(MICOS13):c.30-1G>A SNV Pathogenic 619099 rs1568293849 GRCh37: 19:5679775-5679775
GRCh38: 19:5679764-5679764
3 MICOS13 NM_205767.2(MICOS13):c.260-2A>G SNV Pathogenic 425157 rs1064797230 GRCh37: 19:5678661-5678661
GRCh38: 19:5678650-5678650

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

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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