COXPD7
MCID: CMB018
MIFTS: 37

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 57 12 72 29 13 6 15 70
Coxpd7 57 12 58 72
Severe C12orf65-Related Combined Oxidative Phosphorylation Defect 12 58
Severe C12orf65-Related Coxpd 12 58
Combined Oxidative Phosphorylation Deficiency, Type 7 39
Combined Oxidative Phosphorylation Defect Type 7 58

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
combined oxidative phosphorylation deficiency 7:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 7

UniProtKB/Swiss-Prot : 72 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, also known as coxpd7, is related to charcot-marie-tooth disease type 2a2a and behr syndrome, and has symptoms including ataxia, muscle weakness and ophthalmoplegia. An important gene associated with Combined Oxidative Phosphorylation Deficiency 7 is MTRFR (Mitochondrial Translation Release Factor In Rescue). Affiliated tissues include eye, brain and skeletal muscle, and related phenotypes are optic atrophy and failure to thrive

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31.

More information from OMIM: 613559 PS609060

Related Diseases for Combined Oxidative Phosphorylation Deficiency 7

Graphical network of the top 20 diseases related to Combined Oxidative Phosphorylation Deficiency 7:



Diseases related to Combined Oxidative Phosphorylation Deficiency 7

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 7

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 7:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
2 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
3 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
4 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
5 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
6 ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000602
7 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
8 spastic paraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0002313
9 visual field defect 58 31 frequent (33%) Frequent (79-30%) HP:0001123
10 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
11 distal sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002936
12 distal amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003693
13 peripheral axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003477
14 impaired tandem gait 58 31 frequent (33%) Frequent (79-30%) HP:0031629
15 lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0007340
16 lower limb hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0002395
17 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
18 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
19 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
20 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
21 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
22 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
23 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
24 gastrostomy tube feeding in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011471
25 impaired mastication 58 31 occasional (7.5%) Occasional (29-5%) HP:0005216
26 oral-pharyngeal dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0200136
27 inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002540
28 upper limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003484
29 thoracic scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002943
30 abnormal thalamic mri signal intensity 58 31 occasional (7.5%) Occasional (29-5%) HP:0012696
31 infantile muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008947
32 bulbar palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001283
33 abnormal brainstem mri signal intensity 58 31 occasional (7.5%) Occasional (29-5%) HP:0012747
34 decreased number of peripheral myelinated nerve fibers 58 31 occasional (7.5%) Occasional (29-5%) HP:0003380
35 dyschromatopsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007641
36 facial diplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001349
37 elevated brain lactate level by mrs 58 31 occasional (7.5%) Occasional (29-5%) HP:0012707
38 paralytic ileus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002590
39 exodeviation 58 31 occasional (7.5%) Occasional (29-5%) HP:0020049
40 visual impairment 58 31 Very frequent (99-80%) HP:0000505
41 skeletal muscle atrophy 58 31 Very frequent (99-80%) HP:0003202
42 increased serum lactate 31 HP:0002151
43 increased csf lactate 31 HP:0002490
44 psychomotor retardation 31 HP:0025356
45 polyneuropathy 31 HP:0001271
46 abnormality of the cerebral white matter 58 Occasional (29-5%)
47 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Neurologic Central Nervous System:
ataxia
dysarthria
increased csf lactate
psychomotor retardation
loss of independent ambulation
more
Neurologic Peripheral Nervous System:
areflexia
distal sensory impairment
axonal polyneuropathy

Head And Neck Face:
facial diplegia

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

Abdomen Gastrointestinal:
paralytic ileus
difficulty chewing and swallowing

Clinical features from OMIM®:

613559 (Updated 20-May-2021)

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 7:


ataxia; muscle weakness; ophthalmoplegia

GenomeRNAi Phenotypes related to Combined Oxidative Phosphorylation Deficiency 7 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 8.92 SNCA
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 8.92 MPHOSPH9 MTRFR SNCA

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 MTRFR

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 7

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

40
Eye, Brain, Skeletal Muscle, Cerebellum, Skin

Publications for Combined Oxidative Phosphorylation Deficiency 7

Articles related to Combined Oxidative Phosphorylation Deficiency 7:

# Title Authors PMID Year
1
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. 6 57
20598281 2010
2
Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. 6 61
24284555 2014
3
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
4
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. 6
27858754 2015
5
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship. 6
24424123 2014

Variations for Combined Oxidative Phosphorylation Deficiency 7

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 7:

6 (show top 50) (show all 65)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MTRFR NM_152269.5(MTRFR):c.248del (p.Val83fs) Deletion Pathogenic 53 rs587776508 GRCh37: 12:123738469-123738469
GRCh38: 12:123253922-123253922
2 MTRFR NM_152269.5(MTRFR):c.96_99dup (p.Pro34fs) Duplication Pathogenic 214192 rs863223926 GRCh37: 12:123738316-123738317
GRCh38: 12:123253769-123253770
3 MTRFR NM_152269.5(MTRFR):c.307del (p.Gln103fs) Deletion Pathogenic 834522 GRCh37: 12:123741384-123741384
GRCh38: 12:123256837-123256837
4 MTRFR NM_152269.5(MTRFR):c.33dup (p.Pro12fs) Duplication Pathogenic 859045 GRCh37: 12:123738253-123738254
GRCh38: 12:123253706-123253707
5 MTRFR GRCh37/hg19 12q24.31(chr12:123738222-123738503) copy number loss Pathogenic 813299 GRCh37: 12:123738222-123738503
GRCh38:
6 MTRFR GRCh37/hg19 12q24.31(chr12:123738221-123738503) copy number loss Pathogenic 915979 GRCh37: 12:123738221-123738503
GRCh38:
7 MTRFR NM_152269.5(MTRFR):c.210del (p.Gly72fs) Deletion Pathogenic/Likely pathogenic 54 rs576462794 GRCh37: 12:123738431-123738431
GRCh38: 12:123253884-123253884
8 MTRFR NM_152269.5(MTRFR):c.56C>T (p.Ala19Val) SNV Uncertain significance 307495 rs140452371 GRCh37: 12:123738277-123738277
GRCh38: 12:123253730-123253730
9 MTRFR NM_152269.5(MTRFR):c.112G>A (p.Val38Ile) SNV Uncertain significance 307497 rs146534475 GRCh37: 12:123738333-123738333
GRCh38: 12:123253786-123253786
10 MTRFR NM_152269.5(MTRFR):c.34C>T (p.Pro12Ser) SNV Uncertain significance 307494 rs751310720 GRCh37: 12:123738255-123738255
GRCh38: 12:123253708-123253708
11 MTRFR NM_152269.5(MTRFR):c.*747G>A SNV Uncertain significance 307513 rs886049048 GRCh37: 12:123742325-123742325
GRCh38: 12:123257778-123257778
12 MTRFR NM_152269.5(MTRFR):c.*468C>T SNV Uncertain significance 307506 rs886049043 GRCh37: 12:123742046-123742046
GRCh38: 12:123257499-123257499
13 MTRFR NM_152269.5(MTRFR):c.*211C>T SNV Uncertain significance 307503 rs749221383 GRCh37: 12:123741789-123741789
GRCh38: 12:123257242-123257242
14 MTRFR NM_152269.5(MTRFR):c.*139A>C SNV Uncertain significance 307500 rs886049041 GRCh37: 12:123741717-123741717
GRCh38: 12:123257170-123257170
15 MTRFR NM_152269.5(MTRFR):c.*674A>G SNV Uncertain significance 307509 rs886049044 GRCh37: 12:123742252-123742252
GRCh38: 12:123257705-123257705
16 MTRFR , MPHOSPH9 NM_152269.4(C12orf65):c.-128C>T SNV Uncertain significance 307493 rs886049039 GRCh37: 12:123717979-123717979
GRCh38: 12:123233432-123233432
17 MTRFR NM_152269.5(MTRFR):c.90G>A (p.Thr30=) SNV Uncertain significance 307496 rs775127232 GRCh37: 12:123738311-123738311
GRCh38: 12:123253764-123253764
18 MTRFR NM_152269.5(MTRFR):c.*143G>T SNV Uncertain significance 307501 rs886049042 GRCh37: 12:123741721-123741721
GRCh38: 12:123257174-123257174
19 MTRFR NM_152269.5(MTRFR):c.257A>T (p.His86Leu) SNV Uncertain significance 582973 rs1565998038 GRCh37: 12:123738478-123738478
GRCh38: 12:123253931-123253931
20 MTRFR NM_152269.5(MTRFR):c.419A>G (p.Glu140Gly) SNV Uncertain significance 645919 rs1255911546 GRCh37: 12:123741496-123741496
GRCh38: 12:123256949-123256949
21 MTRFR NM_152269.5(MTRFR):c.326G>A (p.Arg109Gln) SNV Uncertain significance 662218 rs147098739 GRCh37: 12:123741403-123741403
GRCh38: 12:123256856-123256856
22 MTRFR , MPHOSPH9 NM_152269.4(C12orf65):c.-206G>T SNV Uncertain significance 307492 rs886049038 GRCh37: 12:123717901-123717901
GRCh38: 12:123233354-123233354
23 MTRFR NM_152269.5(MTRFR):c.347T>C (p.Val116Ala) SNV Uncertain significance 547960 rs374464556 GRCh37: 12:123741424-123741424
GRCh38: 12:123256877-123256877
24 MTRFR NC_000012.12:g.(?_123253665)_(123257041_?)dup Duplication Uncertain significance 832824 GRCh37: 12:123738212-123741588
GRCh38:
25 MTRFR NM_152269.5(MTRFR):c.486T>G (p.Ser162Arg) SNV Uncertain significance 881087 GRCh37: 12:123741563-123741563
GRCh38: 12:123257016-123257016
26 MTRFR NM_152269.5(MTRFR):c.*13A>C SNV Uncertain significance 881088 GRCh37: 12:123741591-123741591
GRCh38: 12:123257044-123257044
27 MTRFR NM_152269.5(MTRFR):c.*159G>A SNV Uncertain significance 881089 GRCh37: 12:123741737-123741737
GRCh38: 12:123257190-123257190
28 MTRFR NM_152269.5(MTRFR):c.*195G>A SNV Uncertain significance 881090 GRCh37: 12:123741773-123741773
GRCh38: 12:123257226-123257226
29 MTRFR NM_152269.5(MTRFR):c.*212G>A SNV Uncertain significance 881552 GRCh37: 12:123741790-123741790
GRCh38: 12:123257243-123257243
30 MTRFR NM_152269.5(MTRFR):c.*374A>G SNV Uncertain significance 881553 GRCh37: 12:123741952-123741952
GRCh38: 12:123257405-123257405
31 MTRFR NM_152269.5(MTRFR):c.*439C>T SNV Uncertain significance 881554 GRCh37: 12:123742017-123742017
GRCh38: 12:123257470-123257470
32 MTRFR , MPHOSPH9 NC_000012.12:g.123233394T>C SNV Uncertain significance 882665 GRCh37: 12:123717941-123717941
GRCh38: 12:123233394-123233394
33 MTRFR , MPHOSPH9 NC_000012.12:g.123233428A>G SNV Uncertain significance 882666 GRCh37: 12:123717975-123717975
GRCh38: 12:123233428-123233428
34 MPHOSPH9 , MTRFR NM_152269.5(MTRFR):c.-51C>T SNV Uncertain significance 882667 GRCh37: 12:123718056-123718056
GRCh38: 12:123233509-123233509
35 MTRFR NM_152269.5(MTRFR):c.*647G>C SNV Uncertain significance 882714 GRCh37: 12:123742225-123742225
GRCh38: 12:123257678-123257678
36 MTRFR NM_152269.5(MTRFR):c.*761G>A SNV Uncertain significance 882715 GRCh37: 12:123742339-123742339
GRCh38: 12:123257792-123257792
37 MTRFR NM_152269.5(MTRFR):c.181G>A (p.Glu61Lys) SNV Uncertain significance 883440 GRCh37: 12:123738402-123738402
GRCh38: 12:123253855-123253855
38 MTRFR NM_152269.5(MTRFR):c.243C>T (p.Cys81=) SNV Uncertain significance 136595 rs140411575 GRCh37: 12:123738464-123738464
GRCh38: 12:123253917-123253917
39 MTRFR NM_152269.5(MTRFR):c.304G>A (p.Asp102Asn) SNV Uncertain significance 883441 GRCh37: 12:123741381-123741381
GRCh38: 12:123256834-123256834
40 MTRFR NM_152269.5(MTRFR):c.336A>G (p.Leu112=) SNV Uncertain significance 883442 GRCh37: 12:123741413-123741413
GRCh38: 12:123256866-123256866
41 MTRFR NM_152269.5(MTRFR):c.353T>C (p.Val118Ala) SNV Uncertain significance 883443 GRCh37: 12:123741430-123741430
GRCh38: 12:123256883-123256883
42 MTRFR NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg) SNV Uncertain significance 136596 rs147328685 GRCh37: 12:123741490-123741490
GRCh38: 12:123256943-123256943
43 MTRFR NM_152269.5(MTRFR):c.*809A>C SNV Uncertain significance 883490 GRCh37: 12:123742387-123742387
GRCh38: 12:123257840-123257840
44 MTRFR NM_152269.5(MTRFR):c.*853C>G SNV Uncertain significance 883491 GRCh37: 12:123742431-123742431
GRCh38: 12:123257884-123257884
45 MTRFR NM_152269.5(MTRFR):c.*869T>C SNV Uncertain significance 883492 GRCh37: 12:123742447-123742447
GRCh38: 12:123257900-123257900
46 MTRFR NM_152269.5(MTRFR):c.*887T>A SNV Uncertain significance 883493 GRCh37: 12:123742465-123742465
GRCh38: 12:123257918-123257918
47 MTRFR NM_152269.5(MTRFR):c.112G>A (p.Val38Ile) SNV Uncertain significance 307497 rs146534475 GRCh37: 12:123738333-123738333
GRCh38: 12:123253786-123253786
48 MTRFR NM_152269.5(MTRFR):c.296G>A (p.Arg99Lys) SNV Uncertain significance 953575 GRCh37: 12:123741373-123741373
GRCh38: 12:123256826-123256826
49 MTRFR NM_152269.5(MTRFR):c.297A>T (p.Arg99Ser) SNV Uncertain significance 998425 GRCh37: 12:123741374-123741374
GRCh38: 12:123256827-123256827
50 MTRFR NM_152269.5(MTRFR):c.56C>T (p.Ala19Val) SNV Uncertain significance 307495 rs140452371 GRCh37: 12:123738277-123738277
GRCh38: 12:123253730-123253730

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

Cellular components related to Combined Oxidative Phosphorylation Deficiency 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial outer membrane GO:0005741 8.62 SNCA MFN2

Biological processes related to Combined Oxidative Phosphorylation Deficiency 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial membrane organization GO:0007006 8.62 SNCA MFN2

Sources for Combined Oxidative Phosphorylation Deficiency 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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