COXPD7
MCID: CMB018
MIFTS: 22

Combined Oxidative Phosphorylation Deficiency 7 (COXPD7)

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

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 7

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 7:

Name: Combined Oxidative Phosphorylation Deficiency 7 58 76 30 13 6 74
Coxpd7 58 60 76
Severe C12orf65-Related Combined Oxidative Phosphorylation Defect 60
Combined Oxidative Phosphorylation Deficiency, Type 7 41
Combined Oxidative Phosphorylation Defect Type 7 60
Severe C12orf65-Related Coxpd 60

Characteristics:

Orphanet epidemiological data:

60
combined oxidative phosphorylation defect type 7
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: adult,late childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early childhood
two families have been reported (september 2010)


HPO:

33
combined oxidative phosphorylation deficiency 7:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 7

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 7: A mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 7, is also known as coxpd7, and has symptoms including ataxia, muscle weakness and ophthalmoplegia. An important gene associated with Combined Oxidative Phosphorylation Deficiency 7 is C12orf65 (Chromosome 12 Open Reading Frame 65). Affiliated tissues include brain, eye and skeletal muscle, and related phenotypes are ptosis and nystagmus

Description from OMIM: 613559

Related Diseases for Combined Oxidative Phosphorylation Deficiency 7

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 7

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 7:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508
2 nystagmus 33 HP:0000639
3 ataxia 33 HP:0001251
4 dysarthria 33 HP:0001260
5 failure to thrive 33 HP:0001508
6 developmental regression 33 HP:0002376
7 global developmental delay 33 HP:0001263
8 visual impairment 33 HP:0000505
9 optic atrophy 33 HP:0000648
10 skeletal muscle atrophy 33 HP:0003202
11 increased serum lactate 33 HP:0002151
12 ophthalmoplegia 33 HP:0000602
13 areflexia 33 HP:0001284
14 facial diplegia 33 HP:0001349
15 generalized hypotonia 33 HP:0001290
16 polyneuropathy 33 HP:0001271
17 distal sensory impairment 33 HP:0002936
18 increased csf lactate 33 HP:0002490
19 paralytic ileus 33 HP:0002590
20 psychomotor retardation 33 HP:0025356

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
nystagmus
visual impairment
optic atrophy
ophthalmoplegia

Muscle Soft Tissue:
muscle weakness
hypotonia
muscle atrophy

Laboratory Abnormalities:
increased serum lactate
fibroblasts show decreased activity of mitochondrial respiratory complex i, complex iii, complex iv, and complex v

Head And Neck Face:
facial diplegia

Neurologic Central Nervous System:
ataxia
dysarthria
increased csf lactate
loss of independent ambulation
psychomotor retardation
more
Growth Other:
failure to thrive

Neurologic Peripheral Nervous System:
areflexia
distal sensory impairment
axonal polyneuropathy

Abdomen Gastrointestinal:
paralytic ileus
difficulty chewing and swallowing

Clinical features from OMIM:

613559

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 7:


ataxia, muscle weakness, ophthalmoplegia

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 7

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 7

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 7

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 7:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 7 30 C12orf65

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 7

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 7:

42
Brain, Eye, Skeletal Muscle, Cerebellum

Publications for Combined Oxidative Phosphorylation Deficiency 7

Articles related to Combined Oxidative Phosphorylation Deficiency 7:

# Title Authors Year
1
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. ( 20598281 )
2010

Variations for Combined Oxidative Phosphorylation Deficiency 7

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 7:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 C12orf65 NM_001143905.2(C12orf65): c.248delT (p.Val83Glyfs) deletion Pathogenic/Likely pathogenic rs587776508 GRCh37 Chromosome 12, 123738469: 123738469
2 C12orf65 NM_001143905.2(C12orf65): c.248delT (p.Val83Glyfs) deletion Pathogenic/Likely pathogenic rs587776508 GRCh38 Chromosome 12, 123253922: 123253922
3 C12orf65 NM_152269.4(C12orf65): c.210delA (p.Gly72Alafs) deletion Pathogenic rs576462794 GRCh37 Chromosome 12, 123738431: 123738431
4 C12orf65 NM_152269.4(C12orf65): c.210delA (p.Gly72Alafs) deletion Pathogenic rs576462794 GRCh38 Chromosome 12, 123253884: 123253884
5 C12orf65 NM_152269.4(C12orf65): c.44G> A (p.Arg15Gln) single nucleotide variant Benign rs78651634 GRCh37 Chromosome 12, 123738265: 123738265
6 C12orf65 NM_152269.4(C12orf65): c.44G> A (p.Arg15Gln) single nucleotide variant Benign rs78651634 GRCh38 Chromosome 12, 123253718: 123253718
7 C12orf65 NM_152269.4(C12orf65): c.96_99dupATCC (p.Pro34Ilefs) duplication Pathogenic rs863223926 GRCh38 Chromosome 12, 123253770: 123253773
8 C12orf65 NM_152269.4(C12orf65): c.96_99dupATCC (p.Pro34Ilefs) duplication Pathogenic rs863223926 GRCh37 Chromosome 12, 123738317: 123738320
9 C12orf65 NM_152269.4(C12orf65): c.347T> C (p.Val116Ala) single nucleotide variant Uncertain significance rs374464556 GRCh37 Chromosome 12, 123741424: 123741424
10 C12orf65 NM_152269.4(C12orf65): c.347T> C (p.Val116Ala) single nucleotide variant Uncertain significance rs374464556 GRCh38 Chromosome 12, 123256877: 123256877
11 C12orf65 NM_152269.4(C12orf65): c.257A> T (p.His86Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 123253931: 123253931
12 C12orf65 NM_152269.4(C12orf65): c.257A> T (p.His86Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 123738478: 123738478

Expression for Combined Oxidative Phosphorylation Deficiency 7

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 7.

Pathways for Combined Oxidative Phosphorylation Deficiency 7

GO Terms for Combined Oxidative Phosphorylation Deficiency 7

Sources for Combined Oxidative Phosphorylation Deficiency 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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