MCID: CMB079
MIFTS: 18

Combined Oxidative Phosphorylation Deficiency 29

Categories: Genetic 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 75 6
Coxpd29 57 59 75
Combined Oxidative Phosphorylation Defect Type 29 59

Characteristics:

OMIM:

57
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:

32
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 : 75 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 skeletal muscle and brain, and related phenotypes are microcephaly and retinopathy

Description from OMIM: 616811

Related Diseases for Combined Oxidative Phosphorylation Deficiency 29

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 29

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 29:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 retinopathy 32 HP:0000488
3 optic atrophy 32 HP:0000648
4 optic neuropathy 32 HP:0001138
5 seizures 32 HP:0001250
6 spasticity 32 HP:0001257
7 global developmental delay 32 HP:0001263
8 cerebellar atrophy 32 HP:0001272
9 generalized hypotonia 32 HP:0001290
10 dystonia 32 HP:0001332
11 increased serum lactate 32 HP:0002151
12 delayed cns myelination 32 HP:0002188
13 global brain atrophy 32 HP:0002283
14 subependymal cysts 32 HP:0002416
15 increased csf lactate 32 HP:0002490
16 increased csf protein 32 HP:0002922
17 peripheral neuropathy 32 HP:0009830
18 decreased activity of mitochondrial complex i 32 HP:0011923
19 decreased activity of mitochondrial complex iii 32 HP:0011924
20 feeding difficulties 32 HP:0011968
21 axonal degeneration 32 HP:0040078

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:

41
Skeletal Muscle, Brain

Publications for Combined Oxidative Phosphorylation Deficiency 29

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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