COXPD15
MCID: CMB048
MIFTS: 26

Combined Oxidative Phosphorylation Deficiency 15 (COXPD15)

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

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 15

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 15:

Name: Combined Oxidative Phosphorylation Deficiency 15 57 12 72 29 13 6 70
Coxpd15 57 12 58 72
Combined Oxidative Phosphorylation Deficiency, Type 15 39
Combined Oxidative Phosphorylation Defect Type 15 58

Characteristics:

Orphanet epidemiological data:

58
combined oxidative phosphorylation defect type 15
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: early childhood,late childhood;

OMIM®:

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

Miscellaneous:
highly variable phenotype
onset in childhood


HPO:

31
combined oxidative phosphorylation deficiency 15:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 15

UniProtKB/Swiss-Prot : 72 Combined oxidative phosphorylation deficiency 15: An autosomal recessive, mitochondrial, neurologic disorder characterized by features of Leigh syndrome and combined oxidative phosphorylation deficiency. Clinical features include mild global developmental delay, white matter abnormalities, ataxia, incoordination, speech and reading difficulties, T2-weighted hyperintensities in the basal ganglia, corpus callosum, and brainstem.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 15, is also known as coxpd15, and has symptoms including ataxia An important gene associated with Combined Oxidative Phosphorylation Deficiency 15 is MTFMT (Mitochondrial Methionyl-TRNA Formyltransferase). Related phenotypes are abnormal pyramidal sign and nystagmus

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation] in MTFMT on chromosome 15q22.31.

More information from OMIM: 614947 PS609060

Related Diseases for Combined Oxidative Phosphorylation Deficiency 15

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 15

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 15:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 abnormal pyramidal sign 31 occasional (7.5%) HP:0007256
2 nystagmus 31 occasional (7.5%) HP:0000639
3 ataxia 31 occasional (7.5%) HP:0001251
4 tremor 31 occasional (7.5%) HP:0001337
5 microcephaly 31 occasional (7.5%) HP:0000252
6 optic atrophy 31 occasional (7.5%) HP:0000648
7 short stature 31 occasional (7.5%) HP:0004322
8 strabismus 31 occasional (7.5%) HP:0000486
9 obesity 31 occasional (7.5%) HP:0001513
10 increased serum lactate 31 occasional (7.5%) HP:0002151
11 reduced visual acuity 31 occasional (7.5%) HP:0007663
12 ventricular septal defect 31 occasional (7.5%) HP:0001629
13 generalized hypotonia 31 occasional (7.5%) HP:0001290
14 wolff-parkinson-white syndrome 31 occasional (7.5%) HP:0001716
15 seizure 31 occasional (7.5%) HP:0001250
16 ventricular septal hypertrophy 31 very rare (1%) HP:0005144
17 global developmental delay 31 HP:0001263
18 delayed speech and language development 31 HP:0000750
19 cognitive impairment 31 HP:0100543
20 increased csf lactate 31 HP:0002490
21 abnormality of the cerebral white matter 31 HP:0002500
22 unsteady gait 31 HP:0002317
23 incoordination 31 HP:0002311

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
ataxia
global developmental delay
cognitive impairment
incoordination
seizures (rare)
more
Head And Neck Eyes:
optic atrophy (in some patients)
nystagmus (in some patients)
decreased visual acuity (in some patients)
strabismus (in some patients)

Growth Height:
short stature (in some patients)

Muscle Soft Tissue:
hypotonia (in some patients)

Laboratory Abnormalities:
increased csf lactate
increased serum lactate (in some patients)
patient fibroblasts and muscle show decreased activities of mitochondrial complexes i, iii, and iv
impaired mitochondrial translation

Cardiovascular Heart:
ventricular septal defect (in some patients)
wolff-parkinson-white syndrome (in some patients)
ventricular septal hypertrophy (in some patients)

Head And Neck Head:
microcephaly (in some patients)

Growth Weight:
obesity (in some patients)

Clinical features from OMIM®:

614947 (Updated 20-May-2021)

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 15:


ataxia

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 15

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 15

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 15

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 15:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 15 29 MTFMT

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 15

Publications for Combined Oxidative Phosphorylation Deficiency 15

Articles related to Combined Oxidative Phosphorylation Deficiency 15:

# Title Authors PMID Year
1
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 57 6
24461907 2014
2
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT. 57 6
23499752 2013
3
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 6 57
21907147 2011
4
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
5
Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase. 6
25288793 2014
6
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. 6
24123792 2013
7
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 6
22499348 2012

Variations for Combined Oxidative Phosphorylation Deficiency 15

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 15:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MTFMT NM_139242.4(MTFMT):c.382C>T (p.Arg128Ter) SNV Pathogenic 39828 rs397514613 GRCh37: 15:65319206-65319206
GRCh38: 15:65026868-65026868
2 MTFMT NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu) SNV Pathogenic 39829 rs397514614 GRCh37: 15:65319214-65319214
GRCh38: 15:65026876-65026876
3 MTFMT NM_139242.4(MTFMT):c.452C>T (p.Pro151Leu) SNV Pathogenic 120309 rs587777244 GRCh37: 15:65316100-65316100
GRCh38: 15:65023762-65023762
4 MTFMT NM_139242.4(MTFMT):c.878G>A (p.Ser293Asn) SNV Pathogenic 133324 rs587777418 GRCh37: 15:65298465-65298465
GRCh38: 15:65006127-65006127
5 MTFMT NM_139242.4(MTFMT):c.219_222del (p.Glu74fs) Deletion Pathogenic 435899 rs777725264 GRCh37: 15:65319366-65319369
GRCh38: 15:65027028-65027031
6 MTFMT NM_139242.4(MTFMT):c.91C>T (p.Arg31Ter) SNV Pathogenic 488549 rs1555404423 GRCh37: 15:65321861-65321861
GRCh38: 15:65029523-65029523
7 MTFMT NM_139242.4(MTFMT):c.146_153del (p.Arg49fs) Deletion Pathogenic 133323 rs587777417 GRCh37: 15:65321799-65321806
GRCh38: 15:65029461-65029468
8 MTFMT NM_139242.4(MTFMT):c.73C>T (p.Gln25Ter) SNV Pathogenic 133325 rs587777419 GRCh37: 15:65321879-65321879
GRCh38: 15:65029541-65029541
9 MTFMT NM_139242.4(MTFMT):c.38_49delinsC (p.Leu13fs) Indel Pathogenic 1031638 GRCh37: 15:65321903-65321914
GRCh38: 15:65029565-65029576
10 MTFMT NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) SNV Pathogenic 39827 rs201431517 GRCh37: 15:65313871-65313871
GRCh38: 15:65021533-65021533
11 MTFMT NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter) SNV Pathogenic 39830 rs200286768 GRCh37: 15:65295576-65295576
GRCh38: 15:65003238-65003238
12 MTFMT NM_139242.4(MTFMT):c.1116del (p.Pro373fs) Deletion Likely pathogenic 216965 rs863224897 GRCh37: 15:65295454-65295454
GRCh38: 15:65003116-65003116
13 MTFMT NM_139242.4(MTFMT):c.19C>G (p.Arg7Gly) SNV Uncertain significance 548003 rs759489465 GRCh37: 15:65321933-65321933
GRCh38: 15:65029595-65029595
14 MTFMT NM_139242.4(MTFMT):c.419+3A>G SNV Uncertain significance 1027737 GRCh37: 15:65319166-65319166
GRCh38: 15:65026828-65026828
15 MTFMT NM_139242.4(MTFMT):c.460C>T (p.Arg154Cys) SNV Uncertain significance 1027738 GRCh37: 15:65316092-65316092
GRCh38: 15:65023754-65023754
16 MTFMT NM_139242.4(MTFMT):c.466C>T (p.Pro156Ser) SNV Uncertain significance 1027739 GRCh37: 15:65316086-65316086
GRCh38: 15:65023748-65023748
17 MTFMT NM_139242.4(MTFMT):c.1123AAG[2] (p.Lys377del) Microsatellite Uncertain significance 1031156 GRCh37: 15:65295439-65295441
GRCh38: 15:65003101-65003103
18 MTFMT NM_139242.4(MTFMT):c.34C>A (p.Pro12Thr) SNV Uncertain significance 1031157 GRCh37: 15:65321918-65321918
GRCh38: 15:65029580-65029580
19 MTFMT NM_139242.4(MTFMT):c.796C>T (p.Arg266Cys) SNV Benign 138264 rs35302908 GRCh37: 15:65308791-65308791
GRCh38: 15:65016453-65016453
20 MTFMT NM_139242.4(MTFMT):c.172T>A (p.Phe58Ile) SNV not provided 440931 rs188718836 GRCh37: 15:65321780-65321780
GRCh38: 15:65029442-65029442

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 15:

72
# Symbol AA change Variation ID SNP ID
1 MTFMT p.Ser125Leu VAR_069303 rs397514614
2 MTFMT p.Ser209Leu VAR_069304 rs201431517

Expression for Combined Oxidative Phosphorylation Deficiency 15

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 15.

Pathways for Combined Oxidative Phosphorylation Deficiency 15

GO Terms for Combined Oxidative Phosphorylation Deficiency 15

Sources for Combined Oxidative Phosphorylation Deficiency 15

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
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
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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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