COXPD39
MCID: CMB091
MIFTS: 25

Combined Oxidative Phosphorylation Deficiency 39 (COXPD39)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 39

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 39:

Name: Combined Oxidative Phosphorylation Deficiency 39 56 12 73 29 6
Coxpd39 56 12 58 73
Gfm2-Related Combined Oxidative Phosphorylation Defect 58
Combined Oxidative Phosphorylation Defect Type 39 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
combined oxidative phosphorylation deficiency 39:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 39

OMIM : 56 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 and cerebellum, and related phenotypes are intrauterine growth retardation and microcephaly

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in GFM2 on chromosome 5q13.3.

UniProtKB/Swiss-Prot : 73 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

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 39:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 intrauterine growth retardation 31 very rare (1%) HP:0001511
2 microcephaly 31 very rare (1%) HP:0000252
3 arthrogryposis multiplex congenita 31 very rare (1%) HP:0002804
4 hypsarrhythmia 31 very rare (1%) HP:0002521
5 pachygyria 31 very rare (1%) HP:0001302
6 simplified gyral pattern 31 very rare (1%) HP:0009879
7 spasticity 31 HP:0001257
8 dysarthria 31 HP:0001260
9 developmental regression 31 HP:0002376
10 global developmental delay 31 HP:0001263
11 delayed speech and language development 31 HP:0000750
12 dystonia 31 HP:0001332
13 ventriculomegaly 31 HP:0002119
14 increased serum lactate 31 HP:0002151
15 involuntary movements 31 HP:0004305
16 drooling 31 HP:0002307
17 abnormal cerebellum morphology 31 HP:0001317
18 myopathic facies 31 HP:0002058
19 increased csf lactate 31 HP:0002490

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
spasticity
dysarthria
developmental regression
dystonia
involuntary movements
more
Head And Neck Mouth:
drooling

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 Face:
myopathic facies

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:

40
Brain, Cerebellum

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. 56 6
29075935 2017
2
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita. 56 6
26016410 2015
3
Exome sequencing can improve diagnosis and alter patient management. 56 6
22700954 2012

Variations for Combined Oxidative Phosphorylation Deficiency 39

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 39:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GFM2 NM_032380.5(GFM2):c.206+4A>GSNV Pathogenic 225205 rs869320703 5:74055190-74055190 5:74759365-74759365
2 GFM2 NM_032380.5(GFM2):c.2029-1G>ASNV Pathogenic 225206 rs869320704 5:74018387-74018387 5:74722562-74722562
3 GFM2 NM_032380.5(GFM2):c.636del (p.Glu213fs)deletion Pathogenic 440787 rs746538436 5:74041963-74041963 5:74746138-74746138
4 GFM2 NM_032380.5(GFM2):c.275A>C (p.Tyr92Ser)SNV Pathogenic 440788 rs1554042187 5:74054703-74054703 5:74758878-74758878
5 GFM2 NM_032380.5(GFM2):c.569G>A (p.Arg190Gln)SNV Likely pathogenic 214509 rs761283105 5:74043556-74043556 5:74747731-74747731
6 GFM2 NM_032380.5(GFM2):c.1728T>A (p.Asp576Glu)SNV Uncertain significance 55856 rs140077535 5:74021950-74021950 5:74726125-74726125

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 39:

73
# Symbol AA change Variation ID SNP ID
1 GFM2 p.Tyr92Ser VAR_082193 rs155404218
2 GFM2 p.Arg190Gln VAR_082194 rs761283105

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

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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