MCID: CMB041
MIFTS: 19

Combined Oxidative Phosphorylation Deficiency 13

Categories: Genetic diseases, Metabolic 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 57 75 29 13 6 73
Coxpd13 57 59 75
Combined Oxidative Phosphorylation Deficiency, Type 13 40
Combined Oxidative Phosphorylation Defect Type 13 59

Characteristics:

Orphanet epidemiological data:

59
combined oxidative phosphorylation defect type 13
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset between 6 and 9 months after normal early development
static, nonprogressive disorder
two sibs have been reported (last curated november 2012)


HPO:

32
combined oxidative phosphorylation deficiency 13:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 614932
Orphanet 59 ORPHA319514
ICD10 via Orphanet 34 G71.3
MeSH 44 D017237
UMLS 73 C3554129

Summaries for Combined Oxidative Phosphorylation Deficiency 13

UniProtKB/Swiss-Prot : 75 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.

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 liver and skeletal muscle, and related phenotypes are dyskinesia and skeletal muscle atrophy

Description from OMIM: 614932

Related Diseases for Combined Oxidative Phosphorylation Deficiency 13

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 13

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dyskinesia
dystonia
choreoathetosis
lack of speech
loss of purposeful hand movements
more
Muscle Soft Tissue:
muscle atrophy
hypotonia, severe
muscle biopsy shows peripheral accumulation of abnormal mitochondria

Laboratory Abnormalities:
increased serum and csf lactate

Neurologic Peripheral Nervous System:
hyporeflexia
decreased nerve conduction velocities

Growth Other:
poor growth

Abdomen Liver:
liver shows mitochondrial respiratory chain deficiencies of complexes iii and iv


Clinical features from OMIM:

614932

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 13:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 dyskinesia 32 HP:0100660
2 skeletal muscle atrophy 32 HP:0003202
3 decreased nerve conduction velocity 32 HP:0000762
4 absent speech 32 HP:0001344
5 growth delay 32 HP:0001510
6 dystonia 32 HP:0001332
7 hyporeflexia 32 HP:0001265
8 choreoathetosis 32 HP:0001266
9 severe muscular hypotonia 32 HP:0006829

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:

41
Liver, Skeletal Muscle

Publications for Combined Oxidative Phosphorylation Deficiency 13

Variations for Combined Oxidative Phosphorylation Deficiency 13

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

75
# 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 12)
# 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.1528G> C (p.Ala510Pro) single nucleotide variant Pathogenic rs879255657 GRCh37 Chromosome 2, 55874556: 55874556
8 PNPT1 NM_033109.4(PNPT1): c.1528G> C (p.Ala510Pro) single nucleotide variant Pathogenic rs879255657 GRCh38 Chromosome 2, 55647421: 55647421
9 PNPT1 NM_033109.4(PNPT1): c.760C> A (p.Gln254Lys) single nucleotide variant Pathogenic rs778100619 GRCh37 Chromosome 2, 55900134: 55900134
10 PNPT1 NM_033109.4(PNPT1): c.760C> A (p.Gln254Lys) single nucleotide variant Pathogenic rs778100619 GRCh38 Chromosome 2, 55672999: 55672999
11 PNPT1 NM_033109.4(PNPT1): c.1661delT (p.Ile554Lysfs) deletion Likely pathogenic GRCh37 Chromosome 2, 55873563: 55873563
12 PNPT1 NM_033109.4(PNPT1): c.1661delT (p.Ile554Lysfs) deletion Likely pathogenic GRCh38 Chromosome 2, 55646428: 55646428

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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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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40 LOVD
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44 MeSH
45 MESH via Orphanet
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49 NCI
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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