COXPD5
MCID: CMB016
MIFTS: 34

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 12 72 29 13 6 15 70
Coxpd5 57 12 58 72
Hypotonia with Lactic Acidemia and Hyperammonemia 12 58
Combined Oxidative Phosphorylation Deficiency, Type 5 39
Combined Oxidative Phosphorylation Defect Type 5 58

Characteristics:

Orphanet epidemiological data:

58
hypotonia with lactic acidemia and hyperammonemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
antenatal onset
death often in first months of life
two families have been reported (as of june 2011)

Inheritance:
autosomal recessive


HPO:

31
combined oxidative phosphorylation deficiency 5:
Onset and clinical course death in infancy congenital onset antenatal onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111473
OMIM® 57 611719
OMIM Phenotypic Series 57 PS609060
MeSH 44 D028361
ICD10 via Orphanet 33 E88.8
UMLS via Orphanet 71 C2673642
Orphanet 58 ORPHA137908
MedGen 41 C2673642
UMLS 70 C2673642

Summaries for Combined Oxidative Phosphorylation Deficiency 5

Disease Ontology : 12 A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonaemia that has material basis in homozygous or compound heterozygous mutation in MRPS22 on chromosome 3q23.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 5, also known as coxpd5, is related to cleft soft palate and 46 xx gonadal dysgenesis, 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 skeletal muscle, and related phenotypes are microcephaly and spastic tetraplegia

UniProtKB/Swiss-Prot : 72 Combined oxidative phosphorylation deficiency 5: A mitochondrial disease resulting in severe metabolic acidosis, edema, hypertrophic cardiomyopathy, tubulopathy, and hypotonia.

More information from OMIM: 611719 PS609060

Related Diseases for Combined Oxidative Phosphorylation Deficiency 5

Diseases related to Combined Oxidative Phosphorylation Deficiency 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cleft soft palate 10.1 MRPS22 COPB2
2 46 xx gonadal dysgenesis 10.1 MRPS22 FOXL2
3 gonadal dysgenesis 10.0 MRPS22 FOXL2
4 esophagus leiomyoma 10.0 SDHC MRPS22
5 blepharophimosis, ptosis, and epicanthus inversus 10.0 MRPS22 FOXL2
6 blepharophimosis 9.9 MRPS22 FOXL2
7 hand-foot-genital syndrome 9.7 HOXA2 FOXL2

Graphical network of the top 20 diseases related to Combined Oxidative Phosphorylation Deficiency 5:



Diseases related to Combined Oxidative Phosphorylation Deficiency 5

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 5

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 5:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 spastic tetraplegia 31 HP:0002510
3 ascites 31 HP:0001541
4 growth delay 31 HP:0001510
5 retrognathia 31 HP:0000278
6 low-set ears 31 HP:0000369
7 hypertrophic cardiomyopathy 31 HP:0001639
8 abnormal renal tubule morphology 31 HP:0000091
9 increased serum lactate 31 HP:0002151
10 hypoplasia of the corpus callosum 31 HP:0002079
11 leukoencephalopathy 31 HP:0002352
12 metabolic acidosis 31 HP:0001942
13 psychomotor retardation 31 HP:0025356
14 posteriorly rotated ears 31 HP:0000358
15 generalized hypotonia 31 HP:0001290
16 edema 31 HP:0000969
17 muscular hypotonia of the trunk 31 HP:0008936
18 redundant neck skin 31 HP:0005989
19 delayed myelination 31 HP:0012448
20 abnormality of the amniotic fluid 31 HP:0001560
21 seizure 31 HP:0001250
22 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
leukoencephalopathy
delayed myelination
spastic quadriplegia
truncal hypotonia
more
Abdomen:
ascites

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

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

Head And Neck Neck:
redundant neck skin

Metabolic Features:
metabolic acidosis, severe

Head And Neck Head:
microcephaly

Head And Neck Face:
retrognathia

Cardiovascular Heart:
hypertrophic cardiomyopathy

Muscle Soft Tissue:
edema
hypotonia

Growth Other:
very poor growth

Genitourinary Kidneys:
tubulopathy (1 family)

Clinical features from OMIM®:

611719 (Updated 05-Apr-2021)

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 5:


seizures; edema; very poor growth

MGI Mouse Phenotypes related to Combined Oxidative Phosphorylation Deficiency 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 ADGRG6 ALX1 COPB2 EDARADD HOXA2 LRBA
2 growth/size/body region MP:0005378 9.91 ADGRG6 ALX1 COPB2 EDARADD FOXL2 HOXA2
3 craniofacial MP:0005382 9.72 ALX1 COPB2 EDARADD HOXA2 LRBA
4 mortality/aging MP:0010768 9.56 ADGRG6 ALX1 COPB2 EDARADD FOXL2 HOXA2
5 hearing/vestibular/ear MP:0005377 9.46 ALX1 EDARADD HOXA2 LRBA
6 skeleton MP:0005390 9.1 ADGRG6 ALX1 EDARADD HOXA2 MRPS22 SDHC

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:

40
Skeletal Muscle

Publications for Combined Oxidative Phosphorylation Deficiency 5

Articles related to Combined Oxidative Phosphorylation Deficiency 5:

# Title Authors PMID Year
1
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy. 57 6
21189481 2011
2
Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. 6 57
17873122 2007

Variations for Combined Oxidative Phosphorylation Deficiency 5

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 5:

6 (show all 27)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MRPS22 NM_020191.3(MRPS22):c.509G>A (p.Arg170His) SNV Pathogenic 4753 rs119478059 GRCh37: 3:139069025-139069025
GRCh38: 3:139350183-139350183
2 MRPS22 NM_020191.3(MRPS22):c.644T>C (p.Leu215Pro) SNV Pathogenic 30524 rs387906924 GRCh37: 3:139069160-139069160
GRCh38: 3:139350318-139350318
3 MRPS22 NM_020191.4(MRPS22):c.789_790insAAAGT (p.Ser264fs) Insertion Pathogenic 1033932 GRCh37: 3:139071543-139071544
GRCh38: 3:139352701-139352702
4 MRPS22 NM_020191.4(MRPS22):c.874_875del (p.Asp292fs) Microsatellite Pathogenic 1033933 GRCh37: 3:139071625-139071626
GRCh38: 3:139352783-139352784
5 COPB2 , MRPS22 NM_020191.3(MRPS22):c.1032_1035dup (p.Leu346fs) Duplication Conflicting interpretations of pathogenicity 631909 rs772578397 GRCh37: 3:139075804-139075805
GRCh38: 3:139356962-139356963
6 MRPS22 NM_020191.3(MRPS22):c.90G>A (p.Gln30=) SNV Uncertain significance 343483 rs772766573 GRCh37: 3:139062958-139062958
GRCh38: 3:139344116-139344116
7 MRPS22 NM_020191.3(MRPS22):c.340-14T>A SNV Uncertain significance 343486 rs377459479 GRCh37: 3:139066988-139066988
GRCh38: 3:139348146-139348146
8 MRPS22 NM_020191.3(MRPS22):c.617C>T (p.Thr206Ile) SNV Uncertain significance 214683 rs76148008 GRCh37: 3:139069133-139069133
GRCh38: 3:139350291-139350291
9 COPB2 , MRPS22 NM_020191.3(MRPS22):c.938C>T (p.Ser313Leu) SNV Uncertain significance 214681 rs147932653 GRCh37: 3:139074583-139074583
GRCh38: 3:139355741-139355741
10 MRPS22 NM_020191.3(MRPS22):c.6G>A (p.Ala2=) SNV Uncertain significance 138252 rs144902770 GRCh37: 3:139062874-139062874
GRCh38: 3:139344032-139344032
11 MRPS22 NM_020191.3(MRPS22):c.327A>G (p.Ala109=) SNV Uncertain significance 343485 rs138148950 GRCh37: 3:139065874-139065874
GRCh38: 3:139347032-139347032
12 LOC112903839 , MRPS22 NM_020191.3(MRPS22):c.172+11T>C SNV Uncertain significance 343484 rs374112977 GRCh37: 3:139063051-139063051
GRCh38: 3:139344209-139344209
13 MRPS22 NM_020191.3(MRPS22):c.652A>G (p.Met218Val) SNV Uncertain significance 343488 rs201627731 GRCh37: 3:139069822-139069822
GRCh38: 3:139350980-139350980
14 COPB2 , MRPS22 NM_020191.3(MRPS22):c.1045T>A (p.Tyr349Asn) SNV Uncertain significance 343492 rs886058024 GRCh37: 3:139075818-139075818
GRCh38: 3:139356976-139356976
15 MRPS22 NM_020191.3(MRPS22):c.732G>A (p.Lys244=) SNV Uncertain significance 343489 rs755022329 GRCh37: 3:139069902-139069902
GRCh38: 3:139351060-139351060
16 MRPS22 NM_020191.4(MRPS22):c.878+13T>C SNV Uncertain significance 899639 GRCh37: 3:139071647-139071647
GRCh38: 3:139352805-139352805
17 MRPS22 NM_020191.4(MRPS22):c.64C>G (p.Arg22Gly) SNV Uncertain significance 902377 GRCh37: 3:139062932-139062932
GRCh38: 3:139344090-139344090
18 LOC112903839 , MRPS22 NM_020191.4(MRPS22):c.166G>A (p.Glu56Lys) SNV Uncertain significance 902378 GRCh37: 3:139063034-139063034
GRCh38: 3:139344192-139344192
19 MRPS22 NM_020191.3(MRPS22):c.787C>T (p.Arg263Cys) SNV Uncertain significance 214684 GRCh37: 3:139071543-139071543
GRCh38: 3:139352701-139352701
20 LOC112903839 , MRPS22 NM_020191.4(MRPS22):c.172+7G>T SNV Uncertain significance 743755 rs777163637 GRCh37: 3:139063047-139063047
GRCh38: 3:139344205-139344205
21 MRPS22 NM_020191.3(MRPS22):c.502C>T (p.Arg168Trp) SNV Uncertain significance 214686 rs544369132 GRCh37: 3:139067164-139067164
GRCh38: 3:139348322-139348322
22 LOC112903839 , MRPS22 NM_020191.4(MRPS22):c.137T>C (p.Met46Thr) SNV Uncertain significance 1029741 GRCh37: 3:139063005-139063005
GRCh38: 3:139344163-139344163
23 MRPS22 NM_020191.4(MRPS22):c.213G>T (p.Met71Ile) SNV Uncertain significance 1029743 GRCh37: 3:139065760-139065760
GRCh38: 3:139346918-139346918
24 MRPS22 NM_020191.4(MRPS22):c.318G>A (p.Met106Ile) SNV Uncertain significance 1029744 GRCh37: 3:139065865-139065865
GRCh38: 3:139347023-139347023
25 MRPS22 NM_020191.3(MRPS22):c.741C>G (p.His247Gln) SNV Likely benign 214680 rs140631494 GRCh37: 3:139071497-139071497
GRCh38: 3:139352655-139352655
26 MRPS22 NM_020191.3(MRPS22):c.201A>G (p.Lys67=) SNV Likely benign 138250 rs11556243 GRCh37: 3:139065748-139065748
GRCh38: 3:139346906-139346906
27 MRPS22 NM_020191.3(MRPS22):c.283A>C (p.Ile95Leu) SNV Benign 138251 rs73866065 GRCh37: 3:139065830-139065830
GRCh38: 3:139346988-139346988

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

72
# Symbol AA change Variation ID SNP ID
1 MRPS22 p.Arg170His VAR_042733 rs119478059

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

Biological processes related to Combined Oxidative Phosphorylation Deficiency 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 embryonic skeletal system morphogenesis GO:0048704 8.62 HOXA2 ALX1

Sources for Combined Oxidative Phosphorylation Deficiency 5

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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