COXPD22
MCID: CMB053
MIFTS: 28

Combined Oxidative Phosphorylation Deficiency 22 (COXPD22)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 22

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 22:

Name: Combined Oxidative Phosphorylation Deficiency 22 57 12 72 29 6 15 70
Coxpd22 57 12 72
Oxidative Phosphorylation Deficiency, Combined, Type 22 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014)
death in the first years of life


HPO:

31
combined oxidative phosphorylation deficiency 22:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 22

UniProtKB/Swiss-Prot : 72 Combined oxidative phosphorylation deficiency 22: A mitochondrial disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, pulmonary hypertension, failure to thrive, encephalopathy, and heart failure.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 22, also known as coxpd22, is related to combined oxidative phosphorylation deficiency 4 and infantile cerebellar-retinal degeneration, and has symptoms including seizures An important gene associated with Combined Oxidative Phosphorylation Deficiency 22 is ATP5F1A (ATP Synthase F1 Subunit Alpha). Affiliated tissues include heart, and related phenotypes are failure to thrive and microcephaly

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in ATP5A1 on chromosome 18q21.1.

More information from OMIM: 616045 PS609060

Related Diseases for Combined Oxidative Phosphorylation Deficiency 22

Graphical network of the top 20 diseases related to Combined Oxidative Phosphorylation Deficiency 22:



Diseases related to Combined Oxidative Phosphorylation Deficiency 22

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 22

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 22:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 microcephaly 31 HP:0000252
3 congestive heart failure 31 HP:0001635
4 intrauterine growth retardation 31 HP:0001511
5 pulmonary arterial hypertension 31 HP:0002092
6 encephalopathy 31 HP:0001298
7 generalized hypotonia 31 HP:0001290
8 hyperalaninemia 31 HP:0003348
9 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
encephalopathy

Head And Neck Head:
microcephaly

Cardiovascular Vascular:
pulmonary hypertension

Laboratory Abnormalities:
increased serum alanine

Growth Other:
failure to thrive
intrauterine growth retardation

Muscle Soft Tissue:
hypotonia
mitochondrial dna depletion
decreased activities of several mitochondrial respiratory enzymes

Cardiovascular Heart:
heart failure

Clinical features from OMIM®:

616045 (Updated 05-Apr-2021)

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 22:


seizures

GenomeRNAi Phenotypes related to Combined Oxidative Phosphorylation Deficiency 22 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.17 UQCRQ
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.17 ATP5F1A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.17 UQCRQ
4 Increased shRNA abundance (Z-score > 2) GR00366-A-160 9.17 ATP5F1A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.17 UQCRQ
6 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.17 UQCRQ
7 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.17 UQCRQ

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 22

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 22

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 22

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 22:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 22 29 ATP5F1A

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 22

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 22:

40
Heart

Publications for Combined Oxidative Phosphorylation Deficiency 22

Articles related to Combined Oxidative Phosphorylation Deficiency 22:

# Title Authors PMID Year
1
Targeted exome sequencing of suspected mitochondrial disorders. 6 57
23596069 2013

Variations for Combined Oxidative Phosphorylation Deficiency 22

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 22:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP5F1A NM_004046.6(ATP5F1A):c.962A>G (p.Tyr321Cys) SNV Pathogenic 156426 rs587777788 GRCh37: 18:43667188-43667188
GRCh38: 18:46087222-46087222
2 ATP5F1A NM_004046.6(ATP5F1A):c.295T>C (p.Ser99Pro) SNV Uncertain significance 1034338 GRCh37: 18:43671662-43671662
GRCh38: 18:46091696-46091696

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 22:

72
# Symbol AA change Variation ID SNP ID
1 ATP5F1A p.Tyr321Cys VAR_071982 rs587777788

Expression for Combined Oxidative Phosphorylation Deficiency 22

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 22.

Pathways for Combined Oxidative Phosphorylation Deficiency 22

GO Terms for Combined Oxidative Phosphorylation Deficiency 22

Cellular components related to Combined Oxidative Phosphorylation Deficiency 22 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.43 UQCC2 LYRM7 ATP5F1A
2 mitochondrion GO:0005739 9.43 UQCRQ UQCC3 UQCC2 TTC19 LYRM7 ATP5F1A
3 respiratory chain GO:0070469 9.32 UQCRQ TTC19
4 mitochondrial respiratory chain complex III GO:0005750 9.16 UQCRQ UQCC3
5 mitochondrial inner membrane GO:0005743 9.02 UQCRQ UQCC3 UQCC2 TTC19 ATP5F1A

Biological processes related to Combined Oxidative Phosphorylation Deficiency 22 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP biosynthetic process GO:0006754 9.26 UQCC3 ATP5F1A
2 cristae formation GO:0042407 9.16 UQCC3 ATP5F1A
3 mitochondrial electron transport, ubiquinol to cytochrome c GO:0006122 8.96 UQCRQ UQCC3
4 mitochondrial respiratory chain complex III assembly GO:0034551 8.92 UQCC3 UQCC2 TTC19 LYRM7

Sources for Combined Oxidative Phosphorylation Deficiency 22

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
Content
Loading form....