MCID: CMB053
MIFTS: 17

Combined Oxidative Phosphorylation Deficiency 22

Categories: Genetic 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 75 29 6 73
Coxpd22 57 75
Oxidative Phosphorylation Deficiency, Combined, Type 22 40

Characteristics:

OMIM:

57
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:

32
combined oxidative phosphorylation deficiency 22:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 22

UniProtKB/Swiss-Prot : 75 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, is also known as coxpd22, 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 microcephaly and seizures

Description from OMIM: 616045

Related Diseases for Combined Oxidative Phosphorylation Deficiency 22

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 22

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
encephalopathy

Head And Neck Head:
microcephaly

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

Laboratory Abnormalities:
increased serum alanine

Growth Other:
failure to thrive
intrauterine growth retardation

Cardiovascular Vascular:
pulmonary hypertension

Cardiovascular Heart:
heart failure


Clinical features from OMIM:

616045

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 22:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 seizures 32 HP:0001250
3 generalized hypotonia 32 HP:0001290
4 encephalopathy 32 HP:0001298
5 failure to thrive 32 HP:0001508
6 intrauterine growth retardation 32 HP:0001511
7 congestive heart failure 32 HP:0001635
8 pulmonary arterial hypertension 32 HP:0002092
9 hyperalaninemia 32 HP:0003348

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 22:


seizures

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:

41
Heart

Publications for Combined Oxidative Phosphorylation Deficiency 22

Variations for Combined Oxidative Phosphorylation Deficiency 22

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

75
# Symbol AA change Variation ID SNP ID
1 ATP5F1A p.Tyr321Cys VAR_071982 rs587777788

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 22:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP5F1A NM_004046.5(ATP5F1A): c.962A> G (p.Tyr321Cys) single nucleotide variant Pathogenic rs587777788 GRCh38 Chromosome 18, 46087222: 46087222
2 ATP5F1A NM_004046.5(ATP5F1A): c.962A> G (p.Tyr321Cys) single nucleotide variant Pathogenic rs587777788 GRCh37 Chromosome 18, 43667188: 43667188

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

Sources for Combined Oxidative Phosphorylation Deficiency 22

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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