COXPD29
MCID: CMB079
MIFTS: 22

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 57 12 72 29 6
Coxpd29 57 12 58 72
Combined Oxidative Phosphorylation Defect Type 29 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
combined oxidative phosphorylation deficiency 29:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 29

UniProtKB/Swiss-Prot : 72 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 increased serum lactate

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in TXN2 on chromosome 22q12.3.

More information from OMIM: 616811 PS609060

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:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 retinopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000488
2 increased serum lactate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002151
3 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
4 decreased activity of mitochondrial complex i 58 31 hallmark (90%) Very frequent (99-80%) HP:0011923
5 optic neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001138
6 increased csf lactate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002490
7 gastrointestinal dysmotility 58 31 hallmark (90%) Very frequent (99-80%) HP:0002579
8 diffuse cerebellar atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100275
9 poor coordination 58 31 hallmark (90%) Very frequent (99-80%) HP:0002370
10 myoclonic spasms 58 31 hallmark (90%) Very frequent (99-80%) HP:0003739
11 delayed myelination 58 31 hallmark (90%) Very frequent (99-80%) HP:0012448
12 abnormal autonomic nervous system physiology 58 31 hallmark (90%) Very frequent (99-80%) HP:0012332
13 increased csf protein 58 31 hallmark (90%) Very frequent (99-80%) HP:0002922
14 neurodegeneration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002180
15 abnormal muscle tone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003808
16 global brain atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002283
17 congenital microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0011451
18 axonal degeneration 58 31 hallmark (90%) Very frequent (99-80%) HP:0040078
19 subependymal cysts 58 31 hallmark (90%) Very frequent (99-80%) HP:0002416
20 decreased activity of mitochondrial complex iii 58 31 hallmark (90%) Very frequent (99-80%) HP:0011924
21 gastrojejunal tube feeding in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0030884
22 bilateral tonic-clonic seizure 31 hallmark (90%) HP:0002069
23 spasticity 31 HP:0001257
24 global developmental delay 31 HP:0001263
25 microcephaly 31 HP:0000252
26 optic atrophy 31 HP:0000648
27 dystonia 31 HP:0001332
28 peripheral neuropathy 31 HP:0009830
29 feeding difficulties 31 HP:0011968
30 generalized tonic-clonic seizures 58 Very frequent (99-80%)
31 cerebellar atrophy 31 HP:0001272
32 generalized hypotonia 31 HP:0001290
33 delayed cns myelination 31 HP:0002188
34 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
dystonia
cerebellar atrophy
delayed myelination
global brain atrophy
more
Head And Neck Eyes:
optic atrophy
retinopathy

Neurologic Peripheral Nervous System:
peripheral neuropathy
axonal degeneration

Abdomen Gastrointestinal:
poor feeding

Head And Neck Head:
microcephaly

Laboratory Abnormalities:
increased serum lactate
increased csf lactate

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 (Updated 20-May-2021)

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

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 29:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 29 29 TXN2

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 29

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

40
Brain, Skeletal Muscle

Publications for Combined Oxidative Phosphorylation Deficiency 29

Articles related to Combined Oxidative Phosphorylation Deficiency 29:

# Title Authors PMID Year
1
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration. 57 6
26626369 2016

Variations for Combined Oxidative Phosphorylation Deficiency 29

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 29:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TXN2 NM_012473.4(TXN2):c.71G>A (p.Trp24Ter) SNV Pathogenic 222023 rs754022333 GRCh37: 22:36876814-36876814
GRCh38: 22:36480767-36480767
2 TXN2 NM_012473.4(TXN2):c.376A>G (p.Ile126Val) SNV Uncertain significance 1031205 GRCh37: 22:36872791-36872791
GRCh38: 22:36476744-36476744

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....