MCID: CMB012
MIFTS: 29

Combined Oxidative Phosphorylation Deficiency 1

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 53 24 71 28 13 69
Coxpd1 53 24 71
Hepatoencephalopathy Due to Combined Oxidative Phosphorylation Defect Type 1 24 55
Hepatoencephalopathy, Early Fatal Progressive 53
Early Fatal Progressive Hepatoencephalopathy 24
Hepatoencephalopathy Early Fatal Progressive 71
Hepatoencephalopathy Due to Coxpd1 55

Characteristics:

Orphanet epidemiological data:

55

OMIM:

53
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:

31
combined oxidative phosphorylation deficiency 1:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 1

OMIM : 53 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 seizures, nystagmus and spasticity. An important gene associated with Combined Oxidative Phosphorylation Deficiency 1 is GFM1 (G Elongation Factor Mitochondrial 1). Affiliated tissues include liver, brain and eye.

Genetics Home Reference : 24 Combined oxidative phosphorylation deficiency 1 is a severe condition that primarily impairs neurological and liver function.

UniProtKB/Swiss-Prot : 71 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

Symptoms via clinical synopsis from OMIM:

53
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 Gastroin testinal:
feeding problems

Metabolic Features:
metabolic acidosis, severe


Clinical features from OMIM:

609060

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 1:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 nystagmus 31 HP:0000639
3 spasticity 31 HP:0001257
4 hyperreflexia 31 HP:0001347
5 hepatomegaly 31 HP:0002240
6 microcephaly 31 HP:0000252
7 feeding difficulties 31 HP:0011968
8 intrauterine growth retardation 31 HP:0001511
9 increased serum lactate 31 HP:0002151
10 cholestasis 31 HP:0001396
11 metabolic acidosis 31 HP:0001942
12 motor delay 31 HP:0001270
13 hypokinesia 31 HP:0002375
14 hypoplasia of the corpus callosum 31 HP:0002079
15 muscular hypotonia of the trunk 31 HP:0008936
16 increased csf lactate 31 HP:0002490
17 poor eye contact 31 HP:0000817
18 global brain atrophy 31 HP:0002283
19 delayed myelination 31 HP:0012448
20 basal ganglia cysts 31 HP:0006799
21 fulminant hepatic failure 31 HP:0004448

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 1:


stiffness, muscle spasticity

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 28 GFM1

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 1

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

38
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:

71
# 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
4 GFM1 p.Arg250Trp VAR_076198 rs139430866

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GFM1 NM_024996.5(GFM1): c.748C> T (p.Arg250Trp) single nucleotide variant Pathogenic rs139430866 GRCh37 Chromosome 3, 158369943: 158369943
2 GFM1 NM_024996.5(GFM1): c.521A> G (p.Asn174Ser) single nucleotide variant Pathogenic rs119470018 GRCh37 Chromosome 3, 158364685: 158364685
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.1487T> G (p.Met496Arg) single nucleotide variant Pathogenic rs119470020 GRCh37 Chromosome 3, 158383232: 158383232

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

Sources for Combined Oxidative Phosphorylation Deficiency 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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