COXPD29
MCID: CMB079
MIFTS: 20

Combined Oxidative Phosphorylation Deficiency 29 (COXPD29)

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

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 29

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 29:

Name: Combined Oxidative Phosphorylation Deficiency 29 58 76 6
Coxpd29 58 60 76
Combined Oxidative Phosphorylation Defect Type 29 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth
favorable response to treatment with coenzyme q10
one patient with unrelated german parents has been reported (last curated february 2016)


HPO:

33
combined oxidative phosphorylation deficiency 29:
Onset and clinical course congenital onset infantile onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 29

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 29: An autosomal recessive, infantile-onset, neurodegenerative disorder characterized by decreased activities of mitochondrial respiratory complexes I and III, severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 29, is also known as coxpd29. An important gene associated with Combined Oxidative Phosphorylation Deficiency 29 is TXN2 (Thioredoxin 2). Affiliated tissues include brain and skeletal muscle, and related phenotypes are retinopathy and severe global developmental delay

Description from OMIM: 616811

Related Diseases for Combined Oxidative Phosphorylation Deficiency 29

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 29

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 29:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 retinopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000488
2 severe global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011344
3 generalized tonic-clonic seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002069
4 increased serum lactate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002151
5 neurodegeneration 60 33 hallmark (90%) Very frequent (99-80%) HP:0002180
6 optic neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001138
7 myoclonic spasms 60 33 hallmark (90%) Very frequent (99-80%) HP:0003739
8 poor coordination 60 33 hallmark (90%) Very frequent (99-80%) HP:0002370
9 increased csf protein 60 33 hallmark (90%) Very frequent (99-80%) HP:0002922
10 increased csf lactate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002490
11 diffuse cerebellar atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100275
12 congenital microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0011451
13 abnormal autonomic nervous system physiology 60 33 hallmark (90%) Very frequent (99-80%) HP:0012332
14 decreased activity of mitochondrial complex i 60 33 hallmark (90%) Very frequent (99-80%) HP:0011923
15 global brain atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002283
16 abnormal muscle tone 60 33 hallmark (90%) Very frequent (99-80%) HP:0003808
17 gastrointestinal dysmotility 60 33 hallmark (90%) Very frequent (99-80%) HP:0002579
18 delayed myelination 60 33 hallmark (90%) Very frequent (99-80%) HP:0012448
19 subependymal cysts 60 33 hallmark (90%) Very frequent (99-80%) HP:0002416
20 decreased activity of mitochondrial complex iii 60 33 hallmark (90%) Very frequent (99-80%) HP:0011924
21 gastrojejunal tube feeding in infancy 60 33 hallmark (90%) Very frequent (99-80%) HP:0030884
22 axonal degeneration 60 33 hallmark (90%) Very frequent (99-80%) HP:0040078
23 seizures 33 HP:0001250
24 spasticity 33 HP:0001257
25 global developmental delay 33 HP:0001263
26 microcephaly 33 HP:0000252
27 optic atrophy 33 HP:0000648
28 peripheral neuropathy 33 HP:0009830
29 feeding difficulties 33 HP:0011968
30 dystonia 33 HP:0001332
31 cerebellar atrophy 33 HP:0001272
32 generalized hypotonia 33 HP:0001290
33 delayed cns myelination 33 HP:0002188

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
dystonia
cerebellar atrophy
global brain atrophy
delayed myelination
more
Head And Neck Eyes:
optic atrophy
retinopathy

Laboratory Abnormalities:
increased serum lactate
increased csf lactate

Abdomen Gastrointestinal:
poor feeding

Head And Neck Head:
microcephaly

Neurologic Peripheral Nervous System:
peripheral neuropathy
axonal degeneration

Muscle Soft Tissue:
hypotonia
abnormal muscles tone
decreased activities of mitochondrial respiratory complexes i and iii seen on skeletal muscle biopsy

Clinical features from OMIM:

616811

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 29

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 29

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 29

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 29

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 29:

42
Brain, Skeletal Muscle

Publications for Combined Oxidative Phosphorylation Deficiency 29

Articles related to Combined Oxidative Phosphorylation Deficiency 29:

# Title Authors Year
1
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration. ( 26626369 )
2016

Variations for Combined Oxidative Phosphorylation Deficiency 29

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 29:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TXN2 NM_012473.3(TXN2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs754022333 GRCh38 Chromosome 22, 36480767: 36480767
2 TXN2 NM_012473.3(TXN2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs754022333 GRCh37 Chromosome 22, 36876814: 36876814

Expression for Combined Oxidative Phosphorylation Deficiency 29

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 29.

Pathways for Combined Oxidative Phosphorylation Deficiency 29

GO Terms for Combined Oxidative Phosphorylation Deficiency 29

Sources for Combined Oxidative Phosphorylation Deficiency 29

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....