COXPD1
MCID: CMB012
MIFTS: 31

Combined Oxidative Phosphorylation Deficiency 1 (COXPD1)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 1

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 1:

Name: Combined Oxidative Phosphorylation Deficiency 1 58 26 76 30 13 6 74
Coxpd1 58 26 76
Hepatoencephalopathy Due to Combined Oxidative Phosphorylation Defect Type 1 26 60
Combined Oxidative Phosphorylation Deficiency, Type 1 41
Hepatoencephalopathy, Early Fatal Progressive 58
Early Fatal Progressive Hepatoencephalopathy 26
Hepatoencephalopathy Early Fatal Progressive 76
Hepatoencephalopathy Due to Coxpd1 60

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death within first months or years of life
four patients have been reported (as of july 2011)


HPO:

33
combined oxidative phosphorylation deficiency 1:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 1

OMIM : 58 Combined oxidative phosphorylation deficiency is an autosomal recessive multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system. Onset occurs at or soon after birth, and features can include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction. Death usually occurs in the first weeks or years of life (summary by Smits et al., 2011). (609060)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 1, also known as coxpd1, is related to combined oxidative phosphorylation deficiency 8 and combined oxidative phosphorylation deficiency 10, and has symptoms including muscle spasticity and stiffness. An important gene associated with Combined Oxidative Phosphorylation Deficiency 1 is GFM1 (G Elongation Factor Mitochondrial 1). Affiliated tissues include liver, brain and eye, and related phenotypes are nystagmus and seizures

Genetics Home Reference : 26 Combined oxidative phosphorylation deficiency 1 is a severe condition that primarily impairs neurological and liver function.

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 1: A mitochondrial disease resulting in early rapidly progressive hepatoencephalopathy.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 1

Graphical network of the top 20 diseases related to Combined Oxidative Phosphorylation Deficiency 1:



Diseases related to Combined Oxidative Phosphorylation Deficiency 1

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 1

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 1:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 seizures 33 HP:0001250
3 spasticity 33 HP:0001257
4 hyperreflexia 33 HP:0001347
5 hepatomegaly 33 HP:0002240
6 microcephaly 33 HP:0000252
7 feeding difficulties 33 HP:0011968
8 intrauterine growth retardation 33 HP:0001511
9 increased serum lactate 33 HP:0002151
10 motor delay 33 HP:0001270
11 cholestasis 33 HP:0001396
12 metabolic acidosis 33 HP:0001942
13 hypokinesia 33 HP:0002375
14 hypoplasia of the corpus callosum 33 HP:0002079
15 muscular hypotonia of the trunk 33 HP:0008936
16 increased csf lactate 33 HP:0002490
17 global brain atrophy 33 HP:0002283
18 poor eye contact 33 HP:0000817
19 delayed myelination 33 HP:0012448
20 basal ganglia cysts 33 HP:0006799
21 fulminant hepatic failure 33 HP:0004448

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
poor eye contact

Abdomen Liver:
hepatomegaly
cholestasis
fulminant hepatic failure (in 2 sibs)
liver necrosis

Laboratory Abnormalities:
increased serum lactate
increased cerebrospinal fluid lactate
increased serum direct bilirubin
fibroblasts show decreased activity of mitochondrial respiratory complex i, complex iii, complex iv, and complex v

Head And Neck Head:
microcephaly, mild

Neurologic Central Nervous System:
spasticity
hyperreflexia
hypoplasia of the corpus callosum
delayed myelination
delayed motor development
more
Growth Other:
intrauterine growth retardation

Abdomen Gastrointestinal:
feeding problems

Metabolic Features:
metabolic acidosis, severe

Clinical features from OMIM:

609060

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 1:


muscle spasticity, stiffness

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 1

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 1

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 1

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 1:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 1 30 GFM1

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 1

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 1:

42
Liver, Brain, Eye

Publications for Combined Oxidative Phosphorylation Deficiency 1

Variations for Combined Oxidative Phosphorylation Deficiency 1

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 1:

76
# Symbol AA change Variation ID SNP ID
1 GFM1 p.Asn174Ser VAR_021512 rs119470018
2 GFM1 p.Met496Arg VAR_031901 rs119470020
3 GFM1 p.Ser57Tyr VAR_076197 rs125497232
4 GFM1 p.Arg250Trp VAR_076198 rs139430866

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 1:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 GFM1 NM_024996.5(GFM1): c.521A> G (p.Asn174Ser) single nucleotide variant Likely pathogenic rs119470018 GRCh37 Chromosome 3, 158364685: 158364685
2 GFM1 NM_024996.5(GFM1): c.521A> G (p.Asn174Ser) single nucleotide variant Likely pathogenic rs119470018 GRCh38 Chromosome 3, 158646896: 158646896
3 GFM1 NM_024996.5(GFM1): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic rs119470019 GRCh37 Chromosome 3, 158363475: 158363475
4 GFM1 NM_024996.5(GFM1): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic rs119470019 GRCh38 Chromosome 3, 158645686: 158645686
5 GFM1 NM_024996.5(GFM1): c.1487T> G (p.Met496Arg) single nucleotide variant Pathogenic rs119470020 GRCh37 Chromosome 3, 158383232: 158383232
6 GFM1 NM_024996.5(GFM1): c.1487T> G (p.Met496Arg) single nucleotide variant Pathogenic rs119470020 GRCh38 Chromosome 3, 158665443: 158665443
7 GFM1 NM_024996.5(GFM1): c.748C> T (p.Arg250Trp) single nucleotide variant Pathogenic rs139430866 GRCh37 Chromosome 3, 158369943: 158369943
8 GFM1 NM_024996.5(GFM1): c.748C> T (p.Arg250Trp) single nucleotide variant Pathogenic rs139430866 GRCh38 Chromosome 3, 158652154: 158652154
9 GFM1 NM_001308164.1(GFM1): c.395A> C (p.Glu132Ala) single nucleotide variant Likely pathogenic rs1553847587 GRCh38 Chromosome 3, 158646770: 158646770
10 GFM1 NM_001308164.1(GFM1): c.395A> C (p.Glu132Ala) single nucleotide variant Likely pathogenic rs1553847587 GRCh37 Chromosome 3, 158364559: 158364559
11 NARS2 NM_024678.5(NARS2): c.1306C> G (p.Arg436Gly) single nucleotide variant Pathogenic rs751383065 GRCh37 Chromosome 11, 78147844: 78147844
12 NARS2 NM_024678.5(NARS2): c.1306C> G (p.Arg436Gly) single nucleotide variant Pathogenic rs751383065 GRCh38 Chromosome 11, 78436798: 78436798
13 NARS2 NM_001243251.1(NARS2): c.-541+350del deletion Pathogenic rs1555047651 GRCh38 Chromosome 11, 78574479: 78574479
14 NARS2 NM_001243251.1(NARS2): c.-541+350del deletion Pathogenic rs1555047651 GRCh37 Chromosome 11, 78285524: 78285524
15 MRPS22 NM_020191.3(MRPS22): c.508C> T (p.Arg170Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 139350182: 139350182
16 MRPS22 NM_020191.3(MRPS22): c.508C> T (p.Arg170Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 139069024: 139069024
17 VARS2 NM_001167734.1(VARS2): c.3188C> T (p.Ser1063Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 30926116: 30926116
18 VARS2 NM_001167734.1(VARS2): c.3188C> T (p.Ser1063Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 30893893: 30893893

Expression for Combined Oxidative Phosphorylation Deficiency 1

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 1.

Pathways for Combined Oxidative Phosphorylation Deficiency 1

GO Terms for Combined Oxidative Phosphorylation Deficiency 1

Cellular components related to Combined Oxidative Phosphorylation Deficiency 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.96 GFM1 NARS2
2 mitochondrial matrix GO:0005759 8.62 GFM1 NARS2

Biological processes related to Combined Oxidative Phosphorylation Deficiency 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 8.62 GFM1 NARS2

Sources for Combined Oxidative Phosphorylation Deficiency 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
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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