Combined Oxidative Phosphorylation Deficiency 25 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 25

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 25:

Name: Combined Oxidative Phosphorylation Deficiency 25 ⁵⁶ ¹² ⁷³ ²⁹ ⁶

Coxpd25 ⁵⁶ ¹² ⁵⁸ ⁷³

Combined Oxidative Phosphorylation Defect Type 25 ⁵⁸ ¹⁷

Oxidative Phosphorylation Deficiency, Combined, Type 25 ³⁹

Characteristics:

Orphanet epidemiological data:

⁵⁸

combined oxidative phosphorylation defect type 25
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two sibs have been reported (last curated june 2015)

HPO:

³¹

combined oxidative phosphorylation deficiency 25:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Other specified metabolic disorders

Orphanet: ⁵⁸

Rare neurological diseases

Rare otorhinolaryngological diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0111468

OMIM ⁵⁶ 616430

OMIM Phenotypic Series ⁵⁶ PS609060

MeSH ⁴³ D028361

ICD10 via Orphanet ³³ E88.8

Orphanet ⁵⁸ ORPHA447954

MedGen ⁴¹ C4225329 CN231322

EFO ¹⁷ EFO_0009035

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Summaries for Combined Oxidative Phosphorylation Deficiency 25

UniProtKB/Swiss-Prot : ⁷³ Combined oxidative phosphorylation deficiency 25: A mitochondrial disorder resulting in developmental delay, growth failure, and sensorineural hearing loss.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 25, is also known as coxpd25. An important gene associated with Combined Oxidative Phosphorylation Deficiency 25 is MARS2 (Methionyl-TRNA Synthetase 2, Mitochondrial). Related phenotypes are hypertelorism and low-set ears

Disease Ontology : ¹² A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in MARS2 on chromosome 2q33.1.

More information from OMIM: 616430 PS609060

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Related Diseases for Combined Oxidative Phosphorylation Deficiency 25

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Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 25

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 25:

³¹ (show all 16)

#	Description	HPO Frequency	HPO Source Accession
1	hypertelorism ³¹	occasional (7.5%)	HP:0000316
2	low-set ears ³¹		HP:0000369
3	global developmental delay ³¹		HP:0001263
4	depressed nasal bridge ³¹		HP:0005280
5	wide nasal bridge ³¹		HP:0000431
6	pectus carinatum ³¹		HP:0000768
7	short nose ³¹		HP:0003196
8	short stature ³¹		HP:0004322
9	feeding difficulties ³¹		HP:0011968
10	anteverted nares ³¹		HP:0000463
11	long philtrum ³¹		HP:0000343
12	generalized hypotonia ³¹		HP:0001290
13	growth hormone deficiency ³¹		HP:0000824
14	cerebellar atrophy ³¹		HP:0001272
15	cerebral atrophy ³¹		HP:0002059
16	dilatation ³¹		HP:0002617

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Ears:
low-set ears

Head And Neck Nose:
short nose
anteverted nares
broad nasal bridge
flat nasal bridge
thickened ala nasi

Abdomen Gastrointestinal:
feeding difficulties

Endocrine Features:
growth hormone deficiency

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
hypertelorism (1 patient)

Laboratory Abnormalities:
decreased activities of mitochondrial complexes i and iv (in fibroblasts)

Chest External Features:
pectus carinatum

Growth Height:
short stature

Head And Neck Face:
long philtrum

Neurologic Central Nervous System:
cerebellar atrophy
cerebral atrophy
delayed psychomotor development
quadriventricular dilatation seen on mri
thin posterior corpus callosum
more

Growth Other:
poor overall growth

Head And Neck Head:
prominent forehead midline ridge

Clinical features from OMIM:

616430

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Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 25

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 25

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Genetic Tests for Combined Oxidative Phosphorylation Deficiency 25

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 25:

#	Genetic test	Affiliating Genes
1	Combined Oxidative Phosphorylation Deficiency 25 ²⁹	MARS2

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Anatomical Context for Combined Oxidative Phosphorylation Deficiency 25

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Publications for Combined Oxidative Phosphorylation Deficiency 25

Articles related to Combined Oxidative Phosphorylation Deficiency 25:

#	Title	Authors	PMID	Year
1	Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss. ⁵⁶ ⁶	Webb BD...Schadt EE	25754315	2015

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Genes for Combined Oxidative Phosphorylation Deficiency 25

Genes related to Combined Oxidative Phosphorylation Deficiency 25 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MARS2	Methionyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	1718.33	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Unconfirmed association ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)	25754315

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Variations for Combined Oxidative Phosphorylation Deficiency 25

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 25:

⁶ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MARS2	NM_138395.4(MARS2):c.550C>T (p.Gln184Ter)	SNV	Pathogenic	193027	rs794726869	2:198570679-198570679	2:197705955-197705955
2	MARS2	NM_138395.4(MARS2):c.424C>T (p.Arg142Trp)	SNV	Pathogenic	193028	rs794726870	2:198570553-198570553	2:197705829-197705829

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 25:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	MARS2	p.Arg142Trp	VAR_073858	rs794726870

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Expression for Combined Oxidative Phosphorylation Deficiency 25

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 25.

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Pathways for Combined Oxidative Phosphorylation Deficiency 25

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GO Terms for Combined Oxidative Phosphorylation Deficiency 25

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Sources for Combined Oxidative Phosphorylation Deficiency 25

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⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Combined Oxidative Phosphorylation Deficiency 25 (COXPD25)

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 25

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 25:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Combined Oxidative Phosphorylation Deficiency 25

Related Diseases for Combined Oxidative Phosphorylation Deficiency 25

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 25

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 25:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 25

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 25

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 25:

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 25

Publications for Combined Oxidative Phosphorylation Deficiency 25

Articles related to Combined Oxidative Phosphorylation Deficiency 25:

Genes for Combined Oxidative Phosphorylation Deficiency 25

Genes related to Combined Oxidative Phosphorylation Deficiency 25 (1 elite genes):

Variations for Combined Oxidative Phosphorylation Deficiency 25

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 25:

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 25:

Expression for Combined Oxidative Phosphorylation Deficiency 25

Pathways for Combined Oxidative Phosphorylation Deficiency 25

GO Terms for Combined Oxidative Phosphorylation Deficiency 25

Sources for Combined Oxidative Phosphorylation Deficiency 25