COXPD36
MCID: CMB086
MIFTS: 17

Combined Oxidative Phosphorylation Deficiency 36 (COXPD36)

Categories: Genetic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 36

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 36:

Name: Combined Oxidative Phosphorylation Deficiency 36 58 76 30 6
Coxpd36 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
nonprogressive disorder
two unrelated patients have been reported (last curated april 2018)


HPO:

33
combined oxidative phosphorylation deficiency 36:
Onset and clinical course infantile onset nonprogressive


Classifications:



External Ids:

OMIM 58 617950
MeSH 45 D028361

Summaries for Combined Oxidative Phosphorylation Deficiency 36

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 36: An autosomal recessive, multisystem disease resulting from deficiencies of mitochondrial respiratory enzyme complexes and mitochondrial dysfunction. Clinical manifestations include sensorineural hearing impairment, mild developmental delay, hypoglycemia, and intellectual disability.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 36, is also known as coxpd36. An important gene associated with Combined Oxidative Phosphorylation Deficiency 36 is MRPS2 (Mitochondrial Ribosomal Protein S2). Affiliated tissues include skin, and related phenotypes are intellectual disability and global developmental delay

Description from OMIM: 617950

Related Diseases for Combined Oxidative Phosphorylation Deficiency 36

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 36

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 36:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 global developmental delay 33 HP:0001263
3 poor speech 33 HP:0002465
4 aciduria 33 HP:0012072

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability
poor speech
delayed psychomotor development
mildly delayed walking

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
increased lactate
increased alanine
2-oxoglutaric aciduria
increased excretion of krebs cycle intermediates
variably decreased activities of mitochondrial respiratory complexes i, iii, and iv in different tissues

Skin Nails Hair Skin:
wrinkly skin (1 patient)

Growth Other:
failure to thrive

Head And Neck Ears:
hearing loss, sensorineural

Head And Neck Face:
dysmorphic features, mild (in some patients)

Metabolic Features:
hypoglycemia, episodic

Clinical features from OMIM:

617950

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 36

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 36

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 36

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 36:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 36 30 MRPS2

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 36

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 36:

42
Skin

Publications for Combined Oxidative Phosphorylation Deficiency 36

Articles related to Combined Oxidative Phosphorylation Deficiency 36:

# Title Authors Year
1
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies. ( 29576219 )
2018

Variations for Combined Oxidative Phosphorylation Deficiency 36

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 36:

76
# Symbol AA change Variation ID SNP ID
1 MRPS2 p.Arg110Cys VAR_080787 rs761334309
2 MRPS2 p.Asp114Asn VAR_080788 rs201229537
3 MRPS2 p.Arg138His VAR_080789 rs758539748

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 36:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MRPS2 NM_016034.5(MRPS2): c.328C> T (p.Arg110Cys) single nucleotide variant Pathogenic rs761334309 GRCh37 Chromosome 9, 138395416: 138395416
2 MRPS2 NM_016034.5(MRPS2): c.328C> T (p.Arg110Cys) single nucleotide variant Pathogenic rs761334309 GRCh38 Chromosome 9, 135503570: 135503570
3 MRPS2 NM_016034.5(MRPS2): c.340G> A (p.Asp114Asn) single nucleotide variant Pathogenic rs201229537 GRCh37 Chromosome 9, 138395428: 138395428
4 MRPS2 NM_016034.5(MRPS2): c.340G> A (p.Asp114Asn) single nucleotide variant Pathogenic rs201229537 GRCh38 Chromosome 9, 135503582: 135503582
5 MRPS2 NM_016034.5(MRPS2): c.413G> A (p.Arg138His) single nucleotide variant Pathogenic rs758539748 GRCh37 Chromosome 9, 138395501: 138395501
6 MRPS2 NM_016034.5(MRPS2): c.413G> A (p.Arg138His) single nucleotide variant Pathogenic rs758539748 GRCh38 Chromosome 9, 135503655: 135503655

Expression for Combined Oxidative Phosphorylation Deficiency 36

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 36.

Pathways for Combined Oxidative Phosphorylation Deficiency 36

GO Terms for Combined Oxidative Phosphorylation Deficiency 36

Sources for Combined Oxidative Phosphorylation Deficiency 36

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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