COXPD5
MCID: CMB016
MIFTS: 21

Combined Oxidative Phosphorylation Deficiency 5 (COXPD5)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 5

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 5:

Name: Combined Oxidative Phosphorylation Deficiency 5 57 75 29 13 6 73
Coxpd5 57 59 75
Combined Oxidative Phosphorylation Deficiency, Type 5 40
Hypotonia with Lactic Acidemia and Hyperammonemia 59
Combined Oxidative Phosphorylation Defect Type 5 59

Characteristics:

Orphanet epidemiological data:

59
hypotonia with lactic acidemia and hyperammonemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
antenatal onset
death often in first months of life
two families have been reported (as of june 2011)


HPO:

32
combined oxidative phosphorylation deficiency 5:
Mortality/Aging death in infancy
Onset and clinical course congenital onset antenatal onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 5

UniProtKB/Swiss-Prot : 75 Combined oxidative phosphorylation deficiency 5: A mitochondrial disease resulting in severe metabolic acidosis, edema, hypertrophic cardiomyopathy, tubulopathy, and hypotonia.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 5, is also known as coxpd5, and has symptoms including seizures, edema and very poor growth. An important gene associated with Combined Oxidative Phosphorylation Deficiency 5 is MRPS22 (Mitochondrial Ribosomal Protein S22). Affiliated tissues include skin and skeletal muscle, and related phenotypes are low-set ears and seizures

Description from OMIM: 611719

Related Diseases for Combined Oxidative Phosphorylation Deficiency 5

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 5

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Head:
microcephaly

Abdomen:
ascites

Head And Neck Face:
retrognathia

Head And Neck Neck:
redundant neck skin

Metabolic Features:
metabolic acidosis, severe

Neurologic Central Nervous System:
seizures
leukoencephalopathy
delayed myelination
spastic quadriplegia
truncal hypotonia
more
Cardiovascular Heart:
hypertrophic cardiomyopathy

Muscle Soft Tissue:
edema
hypotonia

Laboratory Abnormalities:
increased serum lactate
increased serum ammonia
skeletal muscle shows decreased activities of mitochondrial respiratory complexes i, iii, iv, and v

Growth Other:
very poor growth

Genitourinary Kidneys:
tubulopathy (1 family)


Clinical features from OMIM:

611719

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 5:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 seizures 32 HP:0001250
3 muscular hypotonia 32 HP:0001252
4 microcephaly 32 HP:0000252
5 spastic tetraplegia 32 HP:0002510
6 hypertrophic cardiomyopathy 32 HP:0001639
7 ascites 32 HP:0001541
8 edema 32 HP:0000969
9 retrognathia 32 HP:0000278
10 growth delay 32 HP:0001510
11 abnormality of the renal tubule 32 HP:0000091
12 increased serum lactate 32 HP:0002151
13 metabolic acidosis 32 HP:0001942
14 generalized hypotonia 32 HP:0001290
15 hypoplasia of the corpus callosum 32 HP:0002079
16 posteriorly rotated ears 32 HP:0000358
17 redundant neck skin 32 HP:0005989
18 muscular hypotonia of the trunk 32 HP:0008936
19 leukoencephalopathy 32 HP:0002352
20 delayed myelination 32 HP:0012448
21 abnormality of the amniotic fluid 32 HP:0001560

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 5:


seizures, edema, very poor growth

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 5

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 5

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 5

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 5:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 5 29 MRPS22

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 5

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 5:

41
Skin, Skeletal Muscle

Publications for Combined Oxidative Phosphorylation Deficiency 5

Variations for Combined Oxidative Phosphorylation Deficiency 5

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 5:

75
# Symbol AA change Variation ID SNP ID
1 MRPS22 p.Arg170His VAR_042733 rs119478059

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MRPS22 NM_020191.2(MRPS22): c.509G> A (p.Arg170His) single nucleotide variant Pathogenic rs119478059 GRCh37 Chromosome 3, 139069025: 139069025
2 MRPS22 NM_020191.2(MRPS22): c.509G> A (p.Arg170His) single nucleotide variant Pathogenic rs119478059 GRCh38 Chromosome 3, 139350183: 139350183
3 MRPS22 NM_020191.2(MRPS22): c.644T> C (p.Leu215Pro) single nucleotide variant Pathogenic rs387906924 GRCh37 Chromosome 3, 139069160: 139069160
4 MRPS22 NM_020191.2(MRPS22): c.644T> C (p.Leu215Pro) single nucleotide variant Pathogenic rs387906924 GRCh38 Chromosome 3, 139350318: 139350318

Expression for Combined Oxidative Phosphorylation Deficiency 5

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 5.

Pathways for Combined Oxidative Phosphorylation Deficiency 5

GO Terms for Combined Oxidative Phosphorylation Deficiency 5

Sources for Combined Oxidative Phosphorylation Deficiency 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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