MCID: CMB018
MIFTS: 22

Combined Oxidative Phosphorylation Deficiency 7

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Metabolic 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 57 75 29 13 6 73
Coxpd7 57 59 75
Severe C12orf65-Related Combined Oxidative Phosphorylation Defect 59
Combined Oxidative Phosphorylation Deficiency, Type 7 40
Combined Oxidative Phosphorylation Defect Type 7 59
Severe C12orf65-Related Coxpd 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 75 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, ophthalmoplegia and muscle weakness. 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 7:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 nystagmus 32 HP:0000639
3 ataxia 32 HP:0001251
4 dysarthria 32 HP:0001260
5 failure to thrive 32 HP:0001508
6 developmental regression 32 HP:0002376
7 global developmental delay 32 HP:0001263
8 visual impairment 32 HP:0000505
9 optic atrophy 32 HP:0000648
10 skeletal muscle atrophy 32 HP:0003202
11 increased serum lactate 32 HP:0002151
12 areflexia 32 HP:0001284
13 ophthalmoplegia 32 HP:0000602
14 generalized hypotonia 32 HP:0001290
15 distal sensory impairment 32 HP:0002936
16 increased csf lactate 32 HP:0002490
17 facial diplegia 32 HP:0001349
18 paralytic ileus 32 HP:0002590

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 7:


ataxia, ophthalmoplegia, muscle weakness

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 29 C12orf65

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 7

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

41
Brain, Eye, Skeletal Muscle, Cerebellum

Publications for Combined Oxidative Phosphorylation Deficiency 7

Variations for Combined Oxidative Phosphorylation Deficiency 7

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C12orf65 NM_001143905.2(C12orf65): c.248delT (p.Val83Glyfs) deletion Likely pathogenic rs587776508 GRCh37 Chromosome 12, 123738469: 123738469
2 C12orf65 NM_001143905.2(C12orf65): c.248delT (p.Val83Glyfs) deletion 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

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 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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