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

Sources

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 low-set ears

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 16)

#	Description	HPO Frequency	HPO Source Accession
1	hypertelorism ³²	occasional (7.5%)	HP:0000316
2	low-set ears ³²		HP:0000369
3	global developmental delay ³²		HP:0001263
4	depressed nasal bridge ³²		HP:0005280
5	wide nasal bridge ³²		HP:0000431
6	pectus carinatum ³²		HP:0000768
7	short nose ³²		HP:0003196
8	anteverted nares ³²		HP:0000463
9	short stature ³²		HP:0004322
10	long philtrum ³²		HP:0000343
11	feeding difficulties ³²		HP:0011968
12	cerebellar atrophy ³²		HP:0001272
13	generalized hypotonia ³²		HP:0001290
14	cerebral atrophy ³²		HP:0002059
15	growth hormone deficiency ³²		HP:0000824
16	dilatation ³²		HP:0002617

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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	1728.43	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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⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 25:

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

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

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

ClinVar 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