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 ⁵⁷ ⁷⁵ ²⁹ ⁶

Coxpd25 ⁵⁷ ⁵⁹ ⁷⁵

Oxidative Phosphorylation Deficiency, Combined, Type 25 ⁴⁰

Combined Oxidative Phosphorylation Defect Type 25 ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Other specified metabolic disorders

Orphanet: ⁵⁹

Rare neurological diseases

Rare otorhinolaryngological diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 616430

Orphanet ⁵⁹ ORPHA447954

ICD10 via Orphanet ³⁴ E88.8

MedGen ⁴² C4225329 CN231322

MeSH ⁴⁴ D028361

SNOMED-CT via HPO ⁶⁹ 258211005 194021007 22006008 more

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Summaries for Combined Oxidative Phosphorylation Deficiency 25

UniProtKB/Swiss-Prot : ⁷⁵ 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 long philtrum

Description from OMIM: 616430

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Related Diseases for Combined Oxidative Phosphorylation Deficiency 25

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Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 25

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Ears:
low-set ears

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

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

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

Abdomen Gastrointestinal:
feeding difficulties

Endocrine Features:
growth hormone deficiency

Growth Other:
poor overall growth

Head And Neck Head:
prominent forehead midline ridge

Clinical features from OMIM:

616430

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 25:

³² (show all 15)

#	Description	HPO Frequency	HPO Source Accession
1	hypertelorism ³²	occasional (7.5%)	HP:0000316
2	long philtrum ³²		HP:0000343
3	low-set ears ³²		HP:0000369
4	wide nasal bridge ³²		HP:0000431
5	anteverted nares ³²		HP:0000463
6	pectus carinatum ³²		HP:0000768
7	growth hormone deficiency ³²		HP:0000824
8	global developmental delay ³²		HP:0001263
9	cerebellar atrophy ³²		HP:0001272
10	generalized hypotonia ³²		HP:0001290
11	cerebral atrophy ³²		HP:0002059
12	short nose ³²		HP:0003196
13	short stature ³²		HP:0004322
14	depressed nasal bridge ³²		HP:0005280
15	feeding difficulties ³²		HP:0011968

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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

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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	1728.6	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	25754315

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Variations for Combined Oxidative Phosphorylation Deficiency 25

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

⁷⁵

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

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 25:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MARS2	NM_138395.3(MARS2): c.550C> T (p.Gln184Ter)	single nucleotide variant	Pathogenic	rs794726869	GRCh37	Chromosome 2, 198570679: 198570679
2	MARS2	NM_138395.3(MARS2): c.550C> T (p.Gln184Ter)	single nucleotide variant	Pathogenic	rs794726869	GRCh38	Chromosome 2, 197705955: 197705955
3	MARS2	NM_138395.3(MARS2): c.424C> T (p.Arg142Trp)	single nucleotide variant	Pathogenic	rs794726870	GRCh37	Chromosome 2, 198570553: 198570553
4	MARS2	NM_138395.3(MARS2): c.424C> T (p.Arg142Trp)	single nucleotide variant	Pathogenic	rs794726870	GRCh38	Chromosome 2, 197705829: 197705829

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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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