COXPD51
MCID: CMB107
MIFTS: 19

Combined Oxidative Phosphorylation Deficiency 51 (COXPD51)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 51

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 51:

Name: Combined Oxidative Phosphorylation Deficiency 51 57 12 6
Coxpd51 57 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death in early childhood
one japanese patient has been reported (last curated october 2020)


HPO:

31
combined oxidative phosphorylation deficiency 51:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 51

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in PTCD3 on chromosome 2p11.2.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 51, is also known as coxpd51. An important gene associated with Combined Oxidative Phosphorylation Deficiency 51 is PTCD3 (Pentatricopeptide Repeat Domain 3). Affiliated tissues include brain and thalamus, and related phenotypes are nystagmus and developmental regression

More information from OMIM: 619057 PS609060

Related Diseases for Combined Oxidative Phosphorylation Deficiency 51

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 51

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 51:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 very rare (1%) HP:0000639
2 developmental regression 31 very rare (1%) HP:0002376
3 hearing impairment 31 very rare (1%) HP:0000365
4 optic atrophy 31 very rare (1%) HP:0000648
5 myoclonus 31 very rare (1%) HP:0001336
6 intrauterine growth retardation 31 very rare (1%) HP:0001511
7 neonatal respiratory distress 31 very rare (1%) HP:0002643
8 respiratory failure 31 very rare (1%) HP:0002878
9 decreased activity of mitochondrial complex i 31 very rare (1%) HP:0011923
10 rigidity 31 very rare (1%) HP:0002063
11 severe short stature 31 very rare (1%) HP:0003510
12 cerebral atrophy 31 very rare (1%) HP:0002059
13 small for gestational age 31 very rare (1%) HP:0001518
14 aspiration pneumonia 31 very rare (1%) HP:0011951
15 caesarian section 31 very rare (1%) HP:0011410
16 nasogastric tube feeding 31 very rare (1%) HP:0040288
17 focal t2 hyperintense thalamic lesion 31 very rare (1%) HP:0012692

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
optic atrophy

Neurologic Central Nervous System:
myoclonus
cerebral atrophy
limb rigidity
delayed psychomotor development
psychomotor regression
more
Head And Neck Ears:
hearing loss

Laboratory Abnormalities:
impaired mitochondrial translation
combined mitochondrial respiratory oxidative phosphorylation defect in fibroblasts
decreased levels and activities of mitochondrial complexes i and iv
decreased cellular respiration and atp production

Respiratory:
respiratory insufficiency
respiratory support needed

Growth Other:
intrauterine growth retardation
poor overall growth

Abdomen Gastrointestinal:
poor feeding
tube feeding

Clinical features from OMIM®:

619057 (Updated 05-Apr-2021)

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 51

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 51

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 51

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 51

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 51:

40
Brain, Thalamus

Publications for Combined Oxidative Phosphorylation Deficiency 51

Articles related to Combined Oxidative Phosphorylation Deficiency 51:

# Title Authors PMID Year
1
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome. 57 6
30607703 2019
2
PTCD3 mutations cause Leigh-like rather than Leigh syndrome. 57
30706245 2019

Variations for Combined Oxidative Phosphorylation Deficiency 51

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 51:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTCD3 NM_017952.6(PTCD3):c.415-2A>G SNV Pathogenic 982042 GRCh37: 2:86346042-86346042
GRCh38: 2:86118919-86118919
2 PTCD3 NM_017952.6(PTCD3):c.1746_1747dup (p.Phe583fs) Microsatellite Pathogenic 982043 GRCh37: 2:86362075-86362076
GRCh38: 2:86134952-86134953

Expression for Combined Oxidative Phosphorylation Deficiency 51

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 51.

Pathways for Combined Oxidative Phosphorylation Deficiency 51

GO Terms for Combined Oxidative Phosphorylation Deficiency 51

Sources for Combined Oxidative Phosphorylation Deficiency 51

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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