COXPD15
MCID: CMB048
MIFTS: 20

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 75 29 13 6 73
Coxpd15 57 59 75
Combined Oxidative Phosphorylation Deficiency, Type 15 40
Combined Oxidative Phosphorylation Defect Type 15 59

Characteristics:

Orphanet epidemiological data:

59
combined oxidative phosphorylation defect type 15
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: early childhood,late childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in childhood


HPO:

32
combined oxidative phosphorylation deficiency 15:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 15

UniProtKB/Swiss-Prot : 75 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 obesity and nystagmus

Description from OMIM: 614947

Related Diseases for Combined Oxidative Phosphorylation Deficiency 15

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 15

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 15:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 obesity 32 occasional (7.5%) HP:0001513
2 nystagmus 32 occasional (7.5%) HP:0000639
3 seizures 32 occasional (7.5%) HP:0001250
4 ataxia 32 occasional (7.5%) HP:0001251
5 tremor 32 occasional (7.5%) HP:0001337
6 global developmental delay 32 HP:0001263
7 delayed speech and language development 32 HP:0000750
8 microcephaly 32 occasional (7.5%) HP:0000252
9 optic atrophy 32 occasional (7.5%) HP:0000648
10 short stature 32 occasional (7.5%) HP:0004322
11 cognitive impairment 32 HP:0100543
12 strabismus 32 occasional (7.5%) HP:0000486
13 reduced visual acuity 32 occasional (7.5%) HP:0007663
14 wolff-parkinson-white syndrome 32 occasional (7.5%) HP:0001716
15 increased serum lactate 32 occasional (7.5%) HP:0002151
16 ventricular septal defect 32 occasional (7.5%) HP:0001629
17 generalized hypotonia 32 occasional (7.5%) HP:0001290
18 incoordination 32 HP:0002311
19 unsteady gait 32 HP:0002317
20 increased csf lactate 32 HP:0002490
21 abnormality of the cerebral white matter 32 HP:0002500
22 abnormal pyramidal sign 32 occasional (7.5%) HP:0007256

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

Variations for Combined Oxidative Phosphorylation Deficiency 15

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

75
# Symbol AA change Variation ID SNP ID
1 MTFMT p.Ser125Leu VAR_069303 rs397514614
2 MTFMT p.Ser209Leu VAR_069304 rs201431517

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 15:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 MTFMT NM_139242.3(MTFMT): c.626C> T (p.Ser209Leu) single nucleotide variant Pathogenic/Likely pathogenic rs201431517 GRCh37 Chromosome 15, 65313871: 65313871
2 MTFMT NM_139242.3(MTFMT): c.626C> T (p.Ser209Leu) single nucleotide variant Pathogenic/Likely pathogenic rs201431517 GRCh38 Chromosome 15, 65021533: 65021533
3 MTFMT NM_139242.3(MTFMT): c.382C> T (p.Arg128Ter) single nucleotide variant Pathogenic rs397514613 GRCh37 Chromosome 15, 65319206: 65319206
4 MTFMT NM_139242.3(MTFMT): c.382C> T (p.Arg128Ter) single nucleotide variant Pathogenic rs397514613 GRCh38 Chromosome 15, 65026868: 65026868
5 MTFMT NM_139242.3(MTFMT): c.374C> T (p.Ser125Leu) single nucleotide variant Pathogenic rs397514614 GRCh37 Chromosome 15, 65319214: 65319214
6 MTFMT NM_139242.3(MTFMT): c.374C> T (p.Ser125Leu) single nucleotide variant Pathogenic rs397514614 GRCh38 Chromosome 15, 65026876: 65026876
7 MTFMT NM_139242.3(MTFMT): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs200286768 GRCh37 Chromosome 15, 65295576: 65295576
8 MTFMT NM_139242.3(MTFMT): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs200286768 GRCh38 Chromosome 15, 65003238: 65003238
9 MTFMT NM_139242.3(MTFMT): c.452C> T (p.Pro151Leu) single nucleotide variant Pathogenic rs587777244 GRCh38 Chromosome 15, 65023762: 65023762
10 MTFMT NM_139242.3(MTFMT): c.452C> T (p.Pro151Leu) single nucleotide variant Pathogenic rs587777244 GRCh37 Chromosome 15, 65316100: 65316100
11 MTFMT NM_139242.3(MTFMT): c.146_153delGGGTGCTC (p.Arg49Leufs) deletion Likely pathogenic rs587777417 GRCh38 Chromosome 15, 65029461: 65029468
12 MTFMT NM_139242.3(MTFMT): c.146_153delGGGTGCTC (p.Arg49Leufs) deletion Likely pathogenic rs587777417 GRCh37 Chromosome 15, 65321799: 65321806
13 MTFMT NM_139242.3(MTFMT): c.878G> A (p.Ser293Asn) single nucleotide variant Pathogenic rs587777418 GRCh38 Chromosome 15, 65006127: 65006127
14 MTFMT NM_139242.3(MTFMT): c.878G> A (p.Ser293Asn) single nucleotide variant Pathogenic rs587777418 GRCh37 Chromosome 15, 65298465: 65298465
15 MTFMT NM_139242.3(MTFMT): c.73C> T (p.Gln25Ter) single nucleotide variant Pathogenic rs587777419 GRCh38 Chromosome 15, 65029541: 65029541
16 MTFMT NM_139242.3(MTFMT): c.73C> T (p.Gln25Ter) single nucleotide variant Pathogenic rs587777419 GRCh37 Chromosome 15, 65321879: 65321879
17 MTFMT NM_139242.3(MTFMT): c.1116delT (p.Pro373Glnfs) deletion Likely pathogenic rs863224897 GRCh37 Chromosome 15, 65295454: 65295454
18 MTFMT NM_139242.3(MTFMT): c.1116delT (p.Pro373Glnfs) deletion Likely pathogenic rs863224897 GRCh38 Chromosome 15, 65003116: 65003116
19 MTFMT NM_139242.3(MTFMT): c.219_222delAGAA (p.Glu74Lysfs) deletion Pathogenic rs777725264 GRCh37 Chromosome 15, 65319366: 65319369
20 MTFMT NM_139242.3(MTFMT): c.219_222delAGAA (p.Glu74Lysfs) deletion Pathogenic rs777725264 GRCh38 Chromosome 15, 65027028: 65027031
21 MTFMT NM_139242.3(MTFMT): c.172T> A (p.Phe58Ile) single nucleotide variant Likely benign rs188718836 GRCh37 Chromosome 15, 65321780: 65321780
22 MTFMT NM_139242.3(MTFMT): c.172T> A (p.Phe58Ile) single nucleotide variant Likely benign rs188718836 GRCh38 Chromosome 15, 65029442: 65029442
23 MTFMT NM_139242.3(MTFMT): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 65321861: 65321861
24 MTFMT NM_139242.3(MTFMT): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 65029523: 65029523
25 MTFMT NM_139242.3(MTFMT): c.1100_1101delTT (p.Phe367Serfs) deletion Pathogenic rs754222633 GRCh37 Chromosome 15, 65295469: 65295470
26 MTFMT NM_139242.3(MTFMT): c.1100_1101delTT (p.Phe367Serfs) deletion Pathogenic rs754222633 GRCh38 Chromosome 15, 65003131: 65003132
27 MTFMT NM_139242.3(MTFMT): c.19C> G (p.Arg7Gly) single nucleotide variant Uncertain significance rs759489465 GRCh37 Chromosome 15, 65321933: 65321933
28 MTFMT NM_139242.3(MTFMT): c.19C> G (p.Arg7Gly) single nucleotide variant Uncertain significance rs759489465 GRCh38 Chromosome 15, 65029595: 65029595

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

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