COXPD45
MCID: CMB101
MIFTS: 18

Combined Oxidative Phosphorylation Deficiency 45 (COXPD45)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 45

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 45:

Name: Combined Oxidative Phosphorylation Deficiency 45 57 12 72 6
Coxpd45 57 12 72

Characteristics:

OMIM®:

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

Miscellaneous:
early death (in some patients)
onset in utero
one consanguineous roma gypsy family has been reported (last curated july, 2020)


HPO:

31
combined oxidative phosphorylation deficiency 45:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 45

OMIM® : 57 Combined oxidative phosphorylation deficiency-45 (COXPD45) is an autosomal recessive multisystem disorder characterized by poor overall growth apparent from infancy, global developmental delay, seizures, and acute progressive neurologic deterioration with loss of skills. Other features may include dysmorphic facies and lesions on brain imaging. Laboratory studies show increased serum lactate and COXPD in patient tissues, consistent with a mitochondrial defect (summary by Serre et al., 2013). For discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (618951) (Updated 05-Apr-2021)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 45, is also known as coxpd45. An important gene associated with Combined Oxidative Phosphorylation Deficiency 45 is MRPL12 (Mitochondrial Ribosomal Protein L12). Affiliated tissues include liver, and related phenotypes are failure to thrive and ataxia

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in MRPL12 on chromosome 17q25.3.

UniProtKB/Swiss-Prot : 72 Combined oxidative phosphorylation deficiency 45: An autosomal recessive mitochondrial disorder with onset in utero and characterized by poor overall growth, failure to thrive, global developmental delay, poor or absent speech, seizures, hypotonia, loss of walking, acute progressive neurologic deterioration, brain lesions, and facial dysmorphism. Laboratory studies show increased serum lactate and decreased mitochondrial respiratory chain enzyme activity in patient tissues.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 45

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 45

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 45:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 ataxia 31 very rare (1%) HP:0001251
3 tremor 31 very rare (1%) HP:0001337
4 high palate 31 very rare (1%) HP:0000218
5 short neck 31 very rare (1%) HP:0000470
6 muscle weakness 31 very rare (1%) HP:0001324
7 absent speech 31 very rare (1%) HP:0001344
8 low-set ears 31 very rare (1%) HP:0000369
9 epicanthus 31 very rare (1%) HP:0000286
10 increased serum lactate 31 very rare (1%) HP:0002151
11 round face 31 very rare (1%) HP:0000311
12 decreased activity of mitochondrial complex i 31 very rare (1%) HP:0011923
13 psychomotor retardation 31 very rare (1%) HP:0025356
14 abnormality of the cerebral white matter 31 very rare (1%) HP:0002500
15 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
16 horizontal nystagmus 31 very rare (1%) HP:0000666
17 cardiac arrest 31 very rare (1%) HP:0001695
18 decreased activity of mitochondrial complex iv 31 very rare (1%) HP:0008347
19 seizure 31 very rare (1%) HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
tremor
global developmental delay
cerebellar ataxia
hypotonia
more
Head And Neck Eyes:
nystagmus
epicanthal folds

Head And Neck Ears:
low-set ears

Head And Neck Face:
round face

Skeletal Hands:
median palmar crease

Growth Other:
failure to thrive
intrauterine growth retardation
poor overall growth

Head And Neck Neck:
short neck

Laboratory Abnormalities:
increased serum lactate
combined mitochondrial respiratory oxidative phosphorylation deficiency
decreased mitochondrial respiratory chain enzyme activity in muscle, liver, and skin fibroblasts

Head And Neck Mouth:
high-arched palate

Clinical features from OMIM®:

618951 (Updated 05-Apr-2021)

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 45

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 45

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 45

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 45

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 45:

40
Liver

Publications for Combined Oxidative Phosphorylation Deficiency 45

Articles related to Combined Oxidative Phosphorylation Deficiency 45:

# Title Authors PMID Year
1
Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency. 57 6
23603806 2013

Variations for Combined Oxidative Phosphorylation Deficiency 45

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 45:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MRPL12 NM_002949.4(MRPL12):c.542C>T (p.Ala181Val) SNV Pathogenic 973971 GRCh37: 17:79674215-79674215
GRCh38: 17:81707185-81707185

Expression for Combined Oxidative Phosphorylation Deficiency 45

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 45.

Pathways for Combined Oxidative Phosphorylation Deficiency 45

GO Terms for Combined Oxidative Phosphorylation Deficiency 45

Sources for Combined Oxidative Phosphorylation Deficiency 45

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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