COXPD47
MCID: CMB103
MIFTS: 23

Combined Oxidative Phosphorylation Deficiency 47 (COXPD47)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 47

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 47:

Name: Combined Oxidative Phosphorylation Deficiency 47 57 12 72 29 6
Coxpd47 57 12 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset in utero
one patient has been reported (last curated july 2020)


HPO:

31
combined oxidative phosphorylation deficiency 47:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 47

UniProtKB/Swiss-Prot : 72 Combined oxidative phosphorylation deficiency 47: An autosomal recessive, multisystemic, mitochondrial disorder characterized by intrauterine growth retardation, swallowing difficulties with failure to thrive, hypoglycemia, dehydration, and hepatomegaly. Additional features include global developmental delay with impaired intellectual development and absent speech, microcephaly, facial dysmorphism, cataract, sensorineural deafness, skeletal features, and cryptorchidism. Laboratory studies show metabolic acidosis, increased serum lactate, and variably impaired activity of mitochondrial respiratory complexes I, III, IV, and V in different tissues.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 47, is also known as coxpd47. An important gene associated with Combined Oxidative Phosphorylation Deficiency 47 is MRPS28 (Mitochondrial Ribosomal Protein S28). Affiliated tissues include brain, liver and globus pallidus, and related phenotypes are failure to thrive and ptosis

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in MRPS28 on chromosome 8q21.13.

More information from OMIM: 618958 PS609060

Related Diseases for Combined Oxidative Phosphorylation Deficiency 47

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 47

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 47:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 ptosis 31 very rare (1%) HP:0000508
3 dysphagia 31 very rare (1%) HP:0002015
4 short neck 31 very rare (1%) HP:0000470
5 cataract 31 very rare (1%) HP:0000518
6 hepatomegaly 31 very rare (1%) HP:0002240
7 microcephaly 31 very rare (1%) HP:0000252
8 sensorineural hearing impairment 31 very rare (1%) HP:0000407
9 dehydration 31 very rare (1%) HP:0001944
10 hypoglycemia 31 very rare (1%) HP:0001943
11 cryptorchidism 31 very rare (1%) HP:0000028
12 intrauterine growth retardation 31 very rare (1%) HP:0001511
13 elevated hepatic transaminase 31 very rare (1%) HP:0002910
14 low-set, posteriorly rotated ears 31 very rare (1%) HP:0000368
15 long philtrum 31 very rare (1%) HP:0000343
16 platyspondyly 31 very rare (1%) HP:0000926
17 increased serum lactate 31 very rare (1%) HP:0002151
18 round face 31 very rare (1%) HP:0000311
19 toe syndactyly 31 very rare (1%) HP:0001770
20 metabolic acidosis 31 very rare (1%) HP:0001942
21 short palm 31 very rare (1%) HP:0004279
22 generalized hypotonia 31 very rare (1%) HP:0001290
23 cone-shaped epiphyses of the distal phalanges of the hand 31 very rare (1%) HP:0010248

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
intrauterine growth retardation
poor overall growth

Head And Neck Neck:
short neck

Abdomen Liver:
hepatomegaly
elevated liver enzymes

Head And Neck Ears:
low-set ears
posteriorly rotated ears
sensorineural hearing loss

Laboratory Abnormalities:
increased serum lactate
increased serum alanine
combined oxidative phosphorylation deficiency
urinary excretion of krebs cycle intermediates
variably decreased activities of mitochondrial respiratory complexes i, iii, iv, and v in multiple tissues

Skeletal Hands:
camptodactyly
short hands
cone-shaped terminal phalanges

Skeletal Spine:
flat vertebrae

Head And Neck Eyes:
ptosis
cataract
abnormal electroretinogram

Neurologic Central Nervous System:
global developmental delay
cerebellar atrophy
hypotonia
impaired intellectual development
absent speech and language
more
Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Face:
long philtrum
round face

Abdomen Gastrointestinal:
feeding difficulties

Skeletal Feet:
toe syndactyly, 2-3

Head And Neck Head:
microcephaly (-4 sd)

Clinical features from OMIM®:

618958 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Combined Oxidative Phosphorylation Deficiency 47 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00293-A 8.62 MRPS28 TPD52

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 47

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 47

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 47

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 47:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 47 29 MRPS28

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 47

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 47:

40
Brain, Liver, Globus Pallidus

Publications for Combined Oxidative Phosphorylation Deficiency 47

Articles related to Combined Oxidative Phosphorylation Deficiency 47:

# Title Authors PMID Year
1
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement. 6 57
30566640 2019
2
Craniofacial anomalies and malformations in respiratory chain deficiency. 57
8989468 1996

Variations for Combined Oxidative Phosphorylation Deficiency 47

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 47:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MRPS28 , TPD52 NM_014018.3(MRPS28):c.356A>G (p.Lys119Arg) SNV Pathogenic 973977 GRCh37: 8:80915273-80915273
GRCh38: 8:80003038-80003038
2 MRPS28 , TPD52 and overlap with 1 gene(s) NC_000008.11:g.(79919149_80002998)_(80003181_80030035)del Deletion Pathogenic 973978 GRCh37:
GRCh38: 8:79919149-80030035

Expression for Combined Oxidative Phosphorylation Deficiency 47

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 47.

Pathways for Combined Oxidative Phosphorylation Deficiency 47

GO Terms for Combined Oxidative Phosphorylation Deficiency 47

Sources for Combined Oxidative Phosphorylation Deficiency 47

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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