COXPD13
MCID: CMB041
MIFTS: 23

Combined Oxidative Phosphorylation Deficiency 13 (COXPD13)

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

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 13

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 13:

Name: Combined Oxidative Phosphorylation Deficiency 13 58 76 30 13 6 74
Coxpd13 58 60 76
Combined Oxidative Phosphorylation Deficiency, Type 13 41
Combined Oxidative Phosphorylation Defect Type 13 60

Characteristics:

Orphanet epidemiological data:

60
combined oxidative phosphorylation defect type 13
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset between 6 and 9 months after normal early development
static, nonprogressive disorder


HPO:

33
combined oxidative phosphorylation deficiency 13:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 13

OMIM : 58 Combined oxidative phosphorylation deficiency-13 is an autosomal recessive multisystem disorder resulting from mitochondrial dysfunction. Affected individuals develop severe neurologic impairment in the first months of life, including hypotonia, abnormal dystonic movements, hearing loss, poor feeding, global developmental delay, and abnormal eye movements. Brain imaging shows signal abnormalities in putamen, basal ganglia, caudate nuclei, or corpus callosum, as well as delayed myelination. Analysis of patient tissues shows multiple defects in enzymatic activities of the mitochondrial respiratory chain, although some tissues may show normal values since tissue expression of the mitochondrial defect and metabolic needs of specific tissues are variable (summary by Vedrenne et al., 2012). (614932)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 13, is also known as coxpd13. An important gene associated with Combined Oxidative Phosphorylation Deficiency 13 is PNPT1 (Polyribonucleotide Nucleotidyltransferase 1). Affiliated tissues include eye, brain and liver, and related phenotypes are nystagmus and cataract

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 13: A mitochondrial disorder characterized by early onset severe encephalomyopathy, dystonia, choreoathetosis, bucofacial dyskinesias and combined mitochondrial respiratory chain deficiency. Nerve conductions velocities are decreased. Levels of plasma and cerebrospinal fluid lactate are increased.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 13

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 13

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 13:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 cataract 33 HP:0000518
3 dyskinesia 33 HP:0100660
4 skeletal muscle atrophy 33 HP:0003202
5 decreased nerve conduction velocity 33 HP:0000762
6 absent speech 33 HP:0001344
7 growth delay 33 HP:0001510
8 dystonia 33 HP:0001332
9 hyporeflexia 33 HP:0001265
10 choreoathetosis 33 HP:0001266
11 severe muscular hypotonia 33 HP:0006829
12 leukodystrophy 33 HP:0002415

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
cataracts
abnormal eye movements

Neurologic Peripheral Nervous System:
hyporeflexia
decreased nerve conduction velocities

Head And Neck Ears:
hearing loss, sensorineural

Laboratory Abnormalities:
increased serum and csf lactate

Neurologic Central Nervous System:
dyskinesia
dystonia
choreoathetosis
leukodystrophy
lack of speech
more
Muscle Soft Tissue:
muscle atrophy
hypotonia, severe
peripheral accumulation of abnormal mitochondria seen on muscle biopsy

Growth Other:
poor growth

Abdomen Liver:
mitochondrial respiratory chain deficiencies of complexes iii and iv seen on liver biopsy

Clinical features from OMIM:

614932

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 13

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 13

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 13

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 13:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 13 30 PNPT1

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 13

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 13:

42
Eye, Brain, Liver, Skeletal Muscle

Publications for Combined Oxidative Phosphorylation Deficiency 13

Articles related to Combined Oxidative Phosphorylation Deficiency 13:

# Title Authors Year
1
Mitochondrial double-stranded RNA triggers antiviral signalling in humans. ( 30046113 )
2018
2
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects. ( 25457163 )
2015
3
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. ( 23084291 )
2012

Variations for Combined Oxidative Phosphorylation Deficiency 13

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 13:

76
# Symbol AA change Variation ID SNP ID
1 PNPT1 p.Gln387Arg VAR_069248 rs397514598

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 13:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 PNPT1 NM_033109.4(PNPT1): c.1160A> G (p.Gln387Arg) single nucleotide variant Pathogenic rs397514598 GRCh37 Chromosome 2, 55894142: 55894142
2 PNPT1 NM_033109.4(PNPT1): c.1160A> G (p.Gln387Arg) single nucleotide variant Pathogenic rs397514598 GRCh38 Chromosome 2, 55667007: 55667007
3 PNPT1 NM_033109.4(PNPT1): c.1592C> G (p.Thr531Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs374698153 GRCh37 Chromosome 2, 55874492: 55874492
4 PNPT1 NM_033109.4(PNPT1): c.1592C> G (p.Thr531Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs374698153 GRCh38 Chromosome 2, 55647357: 55647357
5 PNPT1 NM_033109.4(PNPT1): c.1525G> A (p.Val509Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs146571352 GRCh37 Chromosome 2, 55874559: 55874559
6 PNPT1 NM_033109.4(PNPT1): c.1525G> A (p.Val509Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs146571352 GRCh38 Chromosome 2, 55647424: 55647424
7 PNPT1 NM_033109.4(PNPT1): c.1519G> T (p.Ala507Ser) single nucleotide variant Uncertain significance rs143712760 GRCh38 Chromosome 2, 55647430: 55647430
8 PNPT1 NM_033109.4(PNPT1): c.1519G> T (p.Ala507Ser) single nucleotide variant Uncertain significance rs143712760 GRCh37 Chromosome 2, 55874565: 55874565
9 PNPT1 NM_033109.4(PNPT1): c.688G> C (p.Glu230Gln) single nucleotide variant Uncertain significance rs34928857 GRCh38 Chromosome 2, 55673071: 55673071
10 PNPT1 NM_033109.4(PNPT1): c.688G> C (p.Glu230Gln) single nucleotide variant Uncertain significance rs34928857 GRCh37 Chromosome 2, 55900206: 55900206
11 PNPT1 NM_033109.4(PNPT1): c.404-1G> A single nucleotide variant Pathogenic rs863225449 GRCh37 Chromosome 2, 55910970: 55910970
12 PNPT1 NM_033109.4(PNPT1): c.404-1G> A single nucleotide variant Pathogenic rs863225449 GRCh38 Chromosome 2, 55683835: 55683835
13 PNPT1 NM_033109.4(PNPT1): c.1528G> C (p.Ala510Pro) single nucleotide variant Pathogenic rs879255657 GRCh37 Chromosome 2, 55874556: 55874556
14 PNPT1 NM_033109.4(PNPT1): c.1528G> C (p.Ala510Pro) single nucleotide variant Pathogenic rs879255657 GRCh38 Chromosome 2, 55647421: 55647421
15 PNPT1 NM_033109.4(PNPT1): c.760C> A (p.Gln254Lys) single nucleotide variant Pathogenic rs778100619 GRCh37 Chromosome 2, 55900134: 55900134
16 PNPT1 NM_033109.4(PNPT1): c.760C> A (p.Gln254Lys) single nucleotide variant Pathogenic rs778100619 GRCh38 Chromosome 2, 55672999: 55672999
17 PNPT1 NM_033109.4(PNPT1): c.1361C> G (p.Ala454Gly) single nucleotide variant Likely pathogenic rs200088200 GRCh37 Chromosome 2, 55883346: 55883346
18 PNPT1 NM_033109.4(PNPT1): c.1361C> G (p.Ala454Gly) single nucleotide variant Likely pathogenic rs200088200 GRCh38 Chromosome 2, 55656211: 55656211
19 PNPT1 NM_033109.4(PNPT1): c.407G> A (p.Arg136His) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 55910966: 55910966
20 PNPT1 NM_033109.4(PNPT1): c.407G> A (p.Arg136His) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 55683831: 55683831
21 PNPT1 NM_033109.4(PNPT1): c.208T> C (p.Ser70Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 55687659: 55687659
22 PNPT1 NM_033109.4(PNPT1): c.208T> C (p.Ser70Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 55914794: 55914794
23 PNPT1 NM_033109.4(PNPT1): c.2137G> T (p.Asp713Tyr) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 55640638: 55640638
24 PNPT1 NM_033109.4(PNPT1): c.2137G> T (p.Asp713Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 55867773: 55867773
25 PNPT1 NM_033109.4(PNPT1): c.1495G> C (p.Gly499Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 55654900: 55654900
26 PNPT1 NM_033109.4(PNPT1): c.1495G> C (p.Gly499Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 55882035: 55882035

Expression for Combined Oxidative Phosphorylation Deficiency 13

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 13.

Pathways for Combined Oxidative Phosphorylation Deficiency 13

GO Terms for Combined Oxidative Phosphorylation Deficiency 13

Sources for Combined Oxidative Phosphorylation Deficiency 13

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
Content
Loading form....