COXPD39
MCID: CMB091
MIFTS: 19

Combined Oxidative Phosphorylation Deficiency 39 (COXPD39)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 39

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 39:

Name: Combined Oxidative Phosphorylation Deficiency 39 57 74 29 6
Coxpd39 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first years of life
some patients may have normal early development and then show regression


Classifications:



External Ids:

MeSH 44 D028361
MedGen 42 CN258295

Summaries for Combined Oxidative Phosphorylation Deficiency 39

OMIM : 57 Combined oxidative phosphorylation deficiency-39 (COXPD39) is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. Affected individuals show global developmental delay, sometimes with regression after normal early development, axial hypotonia with limb spasticity or abnormal involuntary movements, and impaired intellectual development with poor speech. More variable features may include hypotonia, seizures, and features of Leigh syndrome (256000) on brain imaging. There are variable deficiencies of the mitochondrial respiratory chain enzyme complexes in patient tissues (summary by Glasgow et al., 2017). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (618397)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 39, is also known as coxpd39. An important gene associated with Combined Oxidative Phosphorylation Deficiency 39 is GFM2 (G Elongation Factor Mitochondrial 2). Affiliated tissues include brain.

UniProtKB/Swiss-Prot : 74 Combined oxidative phosphorylation deficiency 39: An autosomal recessive disorder due to mitochondrial dysfunction and characterized by global developmental delay, axial hypotonia, dystonia, dysarthria, impaired intellectual development with poor speech, and deficiencies of the mitochondrial respiratory chain enzyme complexes. Neuroimaging shows abnormalities in the putamen and caudate nuclei, along with subcortical white matter involvement.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 39

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 39

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
dysarthria
developmental regression
dystonia
involuntary movements
more
Head And Neck Face:
myopathic facies

Head And Neck Head:
microcephaly (in some patients)

Muscle Soft Tissue:
hypotonia, axial
hypertonia, limbs

Metabolic Features:
hypoglycemia (in some patients) diabetes mellitus (in some patients)

Laboratory Abnormalities:
increased serum lactate
increased csf lactate
decreased mitochondrial respiratory chain activities, variable, in multiple tissues

Head And Neck Mouth:
drooling

Skeletal:
contractures (in some patients)
arthrogryposis multiplex congenita (in some patients)

Growth Other:
intrauterine growth retardation (in some patients)

Clinical features from OMIM:

618397

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 39

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 39

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 39

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 39:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 39 29 GFM2

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 39

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 39:

41
Brain

Publications for Combined Oxidative Phosphorylation Deficiency 39

Articles related to Combined Oxidative Phosphorylation Deficiency 39:

# Title Authors PMID Year
1
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. 8 71
29075935 2017
2
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita. 8 71
26016410 2015
3
Exome sequencing can improve diagnosis and alter patient management. 8 71
22700954 2012

Variations for Combined Oxidative Phosphorylation Deficiency 39

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 39:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GFM2 NM_032380.5(GFM2): c.636del (p.Glu213fs) deletion Pathogenic rs746538436 5:74041963-74041963 5:74746138-74746138
2 GFM2 NM_032380.5(GFM2): c.275A> C (p.Tyr92Ser) single nucleotide variant Pathogenic rs1554042187 5:74054703-74054703 5:74758878-74758878
3 GFM2 NM_032380.5(GFM2): c.206+4A> G single nucleotide variant Pathogenic rs869320703 5:74055190-74055190 5:74759365-74759365
4 GFM2 NM_032380.5(GFM2): c.2029-1G> A single nucleotide variant Pathogenic rs869320704 5:74018387-74018387 5:74722562-74722562
5 GFM2 NM_032380.5(GFM2): c.569G> A (p.Arg190Gln) single nucleotide variant Likely pathogenic rs761283105 5:74043556-74043556 5:74747731-74747731
6 GFM2 NM_032380.5(GFM2): c.1728T> A (p.Asp576Glu) single nucleotide variant Uncertain significance rs140077535 5:74021950-74021950 5:74726125-74726125

Expression for Combined Oxidative Phosphorylation Deficiency 39

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 39.

Pathways for Combined Oxidative Phosphorylation Deficiency 39

GO Terms for Combined Oxidative Phosphorylation Deficiency 39

Sources for Combined Oxidative Phosphorylation Deficiency 39

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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