COXPD36
MCID: CMB086
MIFTS: 16

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 57 75 6
Coxpd36 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
combined oxidative phosphorylation deficiency 36:
Onset and clinical course infantile onset nonprogressive


Classifications:



External Ids:

OMIM 57 617950
MedGen 42 CN244569
MeSH 44 D028361

Summaries for Combined Oxidative Phosphorylation Deficiency 36

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 36:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 global developmental delay 32 HP:0001263
3 poor speech 32 HP:0002465
4 aciduria 32 HP:0012072

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

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

75
# Symbol AA change Variation ID SNP ID
1 MRPS2 p.Arg110Cys VAR_080787
2 MRPS2 p.Asp114Asn VAR_080788
3 MRPS2 p.Arg138His VAR_080789

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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