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 54 24 71 29 13 69
Coxpd1 24 71
Hepatoencephalopathy Due to Combined Oxidative Phosphorylation Defect Type 1 56
Hepatoencephalopathy Early Fatal Progressive 71
Hepatoencephalopathy Due to Coxpd1 56

Characteristics:

Orphanet epidemiological data:

56

OMIM:

54
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:

32
combined oxidative phosphorylation deficiency 1:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 1

OMIM : 54
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 28 and combined oxidative phosphorylation deficiency 14, and has symptoms including nystagmus, hyperreflexia 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.

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:

54

Neurologic- Central Nervous System:
delayed motor development
hyperreflexia
spasticity
hypoplasia of the corpus callosum
axial hypotonia
more
Head And Neck- Eyes:
nystagmus
poor eye contact

Growth- Other:
intrauterine growth retardation

Head And Neck- Head:
microcephaly, mild

Abdomen- Gastroin testinal:
feeding problems

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

Metabolic Features:
metabolic acidosis, severe


Clinical features from OMIM:

609060

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 1:

32 (show all 21)
id Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 hyperreflexia 32 HP:0001347
3 spasticity 32 HP:0001257
4 hepatomegaly 32 HP:0002240
5 seizures 32 HP:0001250
6 microcephaly 32 HP:0000252
7 metabolic acidosis 32 HP:0001942
8 poor eye contact 32 HP:0000817
9 intrauterine growth retardation 32 HP:0001511
10 increased csf lactate 32 HP:0002490
11 increased serum lactate 32 HP:0002151
12 basal ganglia cysts 32 HP:0006799
13 hypoplasia of the corpus callosum 32 HP:0002079
14 motor delay 32 HP:0001270
15 delayed myelination 32 HP:0012448
16 hypokinesia 32 HP:0002375
17 feeding difficulties 32 HP:0011968
18 cholestasis 32 HP:0001396
19 global brain atrophy 32 HP:0002283
20 muscular hypotonia of the trunk 32 HP:0008936
21 fulminant hepatic failure 32 HP:0004448

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:

id Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 1 29 24 GFM1

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 1

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

39
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
id Symbol AA change Variation ID SNP ID
1 GFM1 p.Asn174Ser VAR_021512 rs28939098
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
id Gene Variation Type Significance SNP ID Assembly Location
1 GFM1 NM_024996.5(GFM1): c.521A> G (p.Asn174Ser) single nucleotide variant Pathogenic rs119470018 GRCh37 Chromosome 3, 158364685: 158364685
2 GFM1 NM_024996.5(GFM1): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic rs119470019 GRCh37 Chromosome 3, 158363475: 158363475
3 GFM1 NM_024996.5(GFM1): c.1487T> G (p.Met496Arg) single nucleotide variant Pathogenic rs119470020 GRCh37 Chromosome 3, 158383232: 158383232
4 GFM1 NM_024996.5(GFM1): c.748C> T (p.Arg250Trp) single nucleotide variant Pathogenic rs139430866 GRCh37 Chromosome 3, 158369943: 158369943

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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