COXPD13
MCID: CMB041
MIFTS: 28

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 56 12 73 29 13 6 71
Coxpd13 56 12 58 73
Combined Oxidative Phosphorylation Deficiency, Type 13 39
Combined Oxidative Phosphorylation Defect Type 13 58

Characteristics:

Orphanet epidemiological data:

58
combined oxidative phosphorylation defect type 13
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
combined oxidative phosphorylation deficiency 13:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 13

OMIM : 56 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 skeletal muscle, and related phenotypes are increased serum lactate and mitochondrial respiratory chain defects

Disease Ontology : 12 A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has material basis in homozygous or compound heterozygous mutation in PNPT1 on chromosome 2p16.1.

UniProtKB/Swiss-Prot : 73 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:

58 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased serum lactate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002151
2 mitochondrial respiratory chain defects 58 31 hallmark (90%) Very frequent (99-80%) HP:0200125
3 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
4 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
5 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
6 choreoathetosis 58 31 frequent (33%) Frequent (79-30%) HP:0001266
7 poor head control 58 31 frequent (33%) Frequent (79-30%) HP:0002421
8 increased csf lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002490
9 delayed myelination 58 31 frequent (33%) Frequent (79-30%) HP:0012448
10 abnormal corpus striatum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0010994
11 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
12 limb dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002451
13 profound static encephalopathy 58 31 frequent (33%) Frequent (79-30%) HP:0007069
14 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
15 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
16 sensory neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000763
17 decreased nerve conduction velocity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000762
18 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
19 type 1 muscle fiber predominance 58 31 occasional (7.5%) Occasional (29-5%) HP:0003803
20 developmental cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000519
21 hip contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0003273
22 lower limb hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006895
23 gastrostomy tube feeding in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011471
24 orofacial dyskinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002310
25 abnormal corpus callosum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001273
26 type 2 muscle fiber atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003554
27 subsarcolemmal accumulations of abnormally shaped mitochondria 58 31 occasional (7.5%) Occasional (29-5%) HP:0003548
28 elevated csf neopterin level 58 31 occasional (7.5%) Occasional (29-5%) HP:0040204
29 ankle flexion contracture 31 occasional (7.5%) HP:0006466
30 abnormality of eye movement 58 Occasional (29-5%)
31 muscle weakness 58 Frequent (79-30%)
32 cataract 31 HP:0000518
33 dyskinesia 31 HP:0100660
34 feeding difficulties 58 Occasional (29-5%)
35 skeletal muscle atrophy 31 HP:0003202
36 growth delay 31 HP:0001510
37 dystonia 31 HP:0001332
38 hyporeflexia 31 HP:0001265
39 severe muscular hypotonia 31 HP:0006829
40 leukodystrophy 31 HP:0002415
41 ankle contracture 58 Occasional (29-5%)
42 abnormality of the basal ganglia 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
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 29 PNPT1

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 13

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

40
Eye, Brain, Skeletal Muscle, Liver

Publications for Combined Oxidative Phosphorylation Deficiency 13

Articles related to Combined Oxidative Phosphorylation Deficiency 13:

# Title Authors PMID Year
1
Mitochondrial double-stranded RNA triggers antiviral signalling in humans. 56 6
30046113 2018
2
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects. 56 6
25457163 2015
3
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. 56 6
23084291 2012

Variations for Combined Oxidative Phosphorylation Deficiency 13

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 13:

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PNPT1 NM_033109.5(PNPT1):c.404-1G>ASNV Pathogenic 218175 rs863225449 2:55910970-55910970 2:55683835-55683835
2 PNPT1 NM_033109.5(PNPT1):c.1160A>G (p.Gln387Arg)SNV Pathogenic 39801 rs397514598 2:55894142-55894142 2:55667007-55667007
3 PNPT1 NM_033109.5(PNPT1):c.1528G>C (p.Ala510Pro)SNV Pathogenic 253224 rs879255657 2:55874556-55874556 2:55647421-55647421
4 PNPT1 NM_033109.5(PNPT1):c.760C>A (p.Gln254Lys)SNV Pathogenic 253225 rs778100619 2:55900134-55900134 2:55672999-55672999
5 PNPT1 NM_033109.5(PNPT1):c.407G>A (p.Arg136His)SNV Pathogenic 587375 rs746356243 2:55910966-55910966 2:55683831-55683831
6 PNPT1 NM_033109.5(PNPT1):c.208T>C (p.Ser70Pro)SNV Pathogenic 587376 rs1559114055 2:55914794-55914794 2:55687659-55687659
7 PNPT1 NM_033109.5(PNPT1):c.2137G>T (p.Asp713Tyr)SNV Pathogenic 587377 rs752550279 2:55867773-55867773 2:55640638-55640638
8 PNPT1 NM_033109.5(PNPT1):c.1495G>C (p.Gly499Arg)SNV Pathogenic 587378 rs1559094461 2:55882035-55882035 2:55654900-55654900
9 PNPT1 NM_033109.5(PNPT1):c.526G>A (p.Ala176Thr)SNV Likely pathogenic 801714 2:55907886-55907886 2:55680751-55680751
10 PNPT1 NM_033109.5(PNPT1):c.1361C>G (p.Ala454Gly)SNV Likely pathogenic 548987 rs200088200 2:55883346-55883346 2:55656211-55656211
11 PNPT1 NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg)SNV Conflicting interpretations of pathogenicity 209184 rs374698153 2:55874492-55874492 2:55647357-55647357
12 PNPT1 NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)SNV Conflicting interpretations of pathogenicity 209185 rs146571352 2:55874559-55874559 2:55647424-55647424
13 PNPT1 NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln)SNV Conflicting interpretations of pathogenicity 215008 rs34928857 2:55900206-55900206 2:55673071-55673071
14 PNPT1 NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)SNV Uncertain significance 215010 rs143712760 2:55874565-55874565 2:55647430-55647430

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

73
# Symbol AA change Variation ID SNP ID
1 PNPT1 p.Gln387Arg VAR_069248 rs397514598

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

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