MCID: CMB086
MIFTS: 9

Combined Oxidative Phosphorylation Deficiency 36

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 57 6
Coxpd36 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617950

Summaries for Combined Oxidative Phosphorylation Deficiency 36

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.

Description from OMIM: 617950

Related Diseases for Combined Oxidative Phosphorylation Deficiency 36

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 36

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Head And Neck Ears:
hearing loss, sensorineural

Muscle Soft Tissue:
hypotonia

Metabolic Features:
hypoglycemia, episodic

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

Skin Nails Hair Skin:
wrinkly skin (1 patient)

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

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


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

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 36

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

41
Skin

Publications for Combined Oxidative Phosphorylation Deficiency 36

Variations for Combined Oxidative Phosphorylation Deficiency 36

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 36:

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