COXPD9
MCID: CMB043
MIFTS: 21

Combined Oxidative Phosphorylation Deficiency 9 (COXPD9)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 9

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 9:

Name: Combined Oxidative Phosphorylation Deficiency 9 57 75 29 13 6 73
Coxpd9 57 59 75
Combined Oxidative Phosphorylation Deficiency, Type 9 40
Combined Oxidative Phosphorylation Defect Type 9 59

Characteristics:

Orphanet epidemiological data:

59
combined oxidative phosphorylation defect type 9
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset about 6 months of age after normal growth and development in the first few months of life
one family with 4 affected sibs has been reported (as of april 2012)
two sibs died before 2 years of age


HPO:

32
combined oxidative phosphorylation deficiency 9:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 9

UniProtKB/Swiss-Prot : 75 Combined oxidative phosphorylation deficiency 9: A mitochondrial disease characterized by failure to thrive, poor feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor retardation. Death in infancy has been observed in some cases.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 9, also known as coxpd9, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and sensorineural hearing loss, and has symptoms including dyspnea An important gene associated with Combined Oxidative Phosphorylation Deficiency 9 is MRPL3 (Mitochondrial Ribosomal Protein L3). Affiliated tissues include liver, and related phenotypes are failure to thrive and global developmental delay

Description from OMIM: 614582

Related Diseases for Combined Oxidative Phosphorylation Deficiency 9

Diseases related to Combined Oxidative Phosphorylation Deficiency 9 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
2 sensorineural hearing loss 10.0
3 interstitial nephritis 10.0
4 lactic acidosis 10.0
5 hypertrophic cardiomyopathy 10.0

Graphical network of the top 20 diseases related to Combined Oxidative Phosphorylation Deficiency 9:



Diseases related to Combined Oxidative Phosphorylation Deficiency 9

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 9

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Cardiovascular Heart:
hypertrophic cardiomyopathy

Abdomen Gastrointestinal:
feeding difficulties

Neurologic Central Nervous System:
delayed psychomotor development
cortical hypergyria (in some patients)

Abdomen Liver:
hepatomegaly

Respiratory:
dyspnea

Laboratory Abnormalities:
increased serum lactate
abnormal liver enzymes
increased serum alanine
variably decreased activity of mitochondrial respiratory complexes i, iii, iv, and v in fibroblasts and muscle


Clinical features from OMIM:

614582

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 9:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 global developmental delay 32 HP:0001263
3 hepatomegaly 32 HP:0002240
4 hypertrophic cardiomyopathy 32 HP:0001639
5 dyspnea 32 HP:0002094
6 feeding difficulties 32 HP:0011968
7 increased serum lactate 32 HP:0002151
8 hyperalaninemia 32 HP:0003348
9 elevated hepatic transaminase 32 HP:0002910

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 9:


dyspnea

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 9

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 9

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 9

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 9:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 9 29 MRPL3

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 9

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 9:

41
Liver

Publications for Combined Oxidative Phosphorylation Deficiency 9

Variations for Combined Oxidative Phosphorylation Deficiency 9

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 9:

75
# Symbol AA change Variation ID SNP ID
1 MRPL3 p.Pro317Arg VAR_066676 rs387906962

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MRPL3 NM_007208.3(MRPL3): c.950C> G (p.Pro317Arg) single nucleotide variant Pathogenic rs387906962 GRCh37 Chromosome 3, 131181664: 131181664
2 MRPL3 NM_007208.3(MRPL3): c.950C> G (p.Pro317Arg) single nucleotide variant Pathogenic rs387906962 GRCh38 Chromosome 3, 131462820: 131462820
3 MRPL3 NM_007208.3(MRPL3): c.884G> C (p.Cys295Ser) single nucleotide variant not provided rs758835610 GRCh38 Chromosome 3, 131468101: 131468101
4 MRPL3 NM_007208.3(MRPL3): c.884G> C (p.Cys295Ser) single nucleotide variant not provided rs758835610 GRCh37 Chromosome 3, 131186945: 131186945

Expression for Combined Oxidative Phosphorylation Deficiency 9

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 9.

Pathways for Combined Oxidative Phosphorylation Deficiency 9

GO Terms for Combined Oxidative Phosphorylation Deficiency 9

Sources for Combined Oxidative Phosphorylation Deficiency 9

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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