MCID: CMB078
MIFTS: 16

Combined Oxidative Phosphorylation Deficiency 32

Categories: Genetic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 32

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 32:

Name: Combined Oxidative Phosphorylation Deficiency 32 57 75 6
Coxpd32 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
may result in early death
onset in first days or months of life


Classifications:



External Ids:

OMIM 57 617664
MeSH 44 D028361

Summaries for Combined Oxidative Phosphorylation Deficiency 32

OMIM : 57 Combined oxidative phosphorylation deficiency-32 is an autosomal recessive neurodegenerative disorder characterized by onset of delayed psychomotor development and developmental regression in infancy. Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem consistent with Leigh syndrome (256000). Patient cells showed decreased activities of mitochondrial respiratory chain complexes, I, III, and IV, as well as impaired mitochondrial translation (summary by Lake et al., 2017). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (617664)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 32, is also known as coxpd32. An important gene associated with Combined Oxidative Phosphorylation Deficiency 32 is MRPS34 (Mitochondrial Ribosomal Protein S34). Affiliated tissues include brain and eye.

UniProtKB/Swiss-Prot : 75 Combined oxidative phosphorylation deficiency 32: An autosomal recessive disorder due to deficiency of mitochondrial respiratory chain complexes, I, III and IV, and characterized by delayed psychomotor development and neurodevelopmental regression. Additional variable symptoms include poor or absent speech, inability to walk, and abnormal movements.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 32

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 32

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
nystagmus
strabismus
exotropia
dysconjugate eye movements
more
Neurologic Peripheral Nervous System:
hyperreflexia

Laboratory Abnormalities:
increased serum lactate
increased csf lactate
combined oxidative phosphorylation deficiency

Skeletal Spine:
kyphoscoliosis

Skeletal:
joint contractures

Head And Neck Face:
coarse facial features (in some patients)

Neurologic Central Nervous System:
spasticity
developmental regression
dystonia
inability to walk
delayed psychomotor development
more
Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
poor feeding

Metabolic Features:
lactic acidosis

Muscle Soft Tissue:
hypotonia
decreased activities of mitochondrial respiratory complexes i, iii, and iv

Head And Neck Head:
microcephaly (in some patients)

Respiratory:
abnormal breathing pattern (in some patients)


Clinical features from OMIM:

617664

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 32

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 32

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 32

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 32

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 32:

41
Brain, Eye

Publications for Combined Oxidative Phosphorylation Deficiency 32

Variations for Combined Oxidative Phosphorylation Deficiency 32

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 32:

75
# Symbol AA change Variation ID SNP ID
1 MRPS34 p.Glu13Lys VAR_080218

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 32:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MRPS34 NM_023936.1(MRPS34): c.37G> A (p.Glu13Lys) single nucleotide variant Pathogenic/Likely pathogenic rs1131692037 GRCh37 Chromosome 16, 1823084: 1823084
2 MRPS34 NM_023936.1(MRPS34): c.37G> A (p.Glu13Lys) single nucleotide variant Pathogenic/Likely pathogenic rs1131692037 GRCh38 Chromosome 16, 1773083: 1773083
3 MRPS34 NM_023936.1(MRPS34): c.321+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 16, 1822799: 1822799
4 MRPS34 NM_023936.1(MRPS34): c.321+1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 16, 1772798: 1772798
5 MRPS34 NM_023936.1(MRPS34): c.322-10G> A single nucleotide variant Pathogenic rs563189672 GRCh38 Chromosome 16, 1772656: 1772656
6 MRPS34 NM_023936.1(MRPS34): c.322-10G> A single nucleotide variant Pathogenic rs563189672 GRCh37 Chromosome 16, 1822657: 1822657
7 MRPS34 NM_023936.1(MRPS34): c.94C> T (p.Gln32Ter) single nucleotide variant Pathogenic rs763672163 GRCh37 Chromosome 16, 1823027: 1823027
8 MRPS34 NM_023936.1(MRPS34): c.94C> T (p.Gln32Ter) single nucleotide variant Pathogenic rs763672163 GRCh38 Chromosome 16, 1773026: 1773026

Expression for Combined Oxidative Phosphorylation Deficiency 32

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 32.

Pathways for Combined Oxidative Phosphorylation Deficiency 32

GO Terms for Combined Oxidative Phosphorylation Deficiency 32

Sources for Combined Oxidative Phosphorylation Deficiency 32

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
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40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
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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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