Combined Oxidative Phosphorylation Deficiency 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 2

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 2:

Name: Combined Oxidative Phosphorylation Deficiency 2 ⁵⁸ ⁷⁶ ³⁰ ¹³ ⁶ ⁷⁴

Coxpd2 ⁵⁸ ⁶⁰ ⁷⁶

Corpus Callosum, Agenesis of, with Dysmorphism and Fatal Lactic Acidosis ⁵⁸

Agenesis of Corpus Callosum with Dysmorphism and Fatal Lactic Acidosis ⁷⁶

Combined Oxidative Phosphorylation Deficiency, Type 2 ⁴¹

Combined Oxidative Phosphorylation Defect Type 2 ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

combined oxidative phosphorylation defect type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
genetic heterogeneity (see coxpd1, )

HPO:

³³

combined oxidative phosphorylation deficiency 2:
Onset and clinical course congenital onset
Inheritance heterogeneous autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Other specified metabolic disorders

Orphanet: ⁶⁰

Inborn errors of metabolism

External Ids:

OMIM ⁵⁸ 610498

MeSH ⁴⁵ D028361

ICD10 via Orphanet ³⁵ E88.8

UMLS via Orphanet ⁷⁵ C1864843

Orphanet ⁶⁰ ORPHA254920

MedGen ⁴³ C1864843

UMLS ⁷⁴ C1864843

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Summaries for Combined Oxidative Phosphorylation Deficiency 2

UniProtKB/Swiss-Prot : ⁷⁶ Combined oxidative phosphorylation deficiency 2: A mitochondrial disease resulting in fatal neonatal metabolic acidosis with agenesis of the corpus callosum.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 2, is also known as coxpd2. An important gene associated with Combined Oxidative Phosphorylation Deficiency 2 is MRPS16 (Mitochondrial Ribosomal Protein S16). Affiliated tissues include skin, liver and testes, and related phenotypes are low-set ears and agenesis of corpus callosum

Description from OMIM: 610498

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Related Diseases for Combined Oxidative Phosphorylation Deficiency 2

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Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 2

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 2:

³³ (show all 16)

#	Description	HPO Source Accession
1	low-set ears ³³	HP:0000369
2	agenesis of corpus callosum ³³	HP:0001274
3	abnormal facial shape ³³	HP:0001999
4	neonatal hypotonia ³³	HP:0001319
5	feeding difficulties in infancy ³³	HP:0008872
6	edema ³³	HP:0000969
7	patent ductus arteriosus ³³	HP:0001643
8	elevated hepatic transaminase ³³	HP:0002910
9	ventriculomegaly ³³	HP:0002119
10	increased serum lactate ³³	HP:0002151
11	lactic acidosis ³³	HP:0003128
12	brachydactyly ³³	HP:0001156
13	lethargy ³³	HP:0001254
14	hypokinesia ³³	HP:0002375
15	small for gestational age ³³	HP:0001518
16	redundant neck skin ³³	HP:0005989

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Ears:
low-set ears

Laboratory Abnormalities:
increased serum lactate
abnormal liver function tests
decreased activity of mitochondrial respiratory complexes i, ii+iii, iv, and v
normal complex ii activity

Skeletal Hands:
brachydactyly

Neurologic Central Nervous System:
agenesis of the corpus callosum
hypotonia, neonatal
dilated ventricles
decreased spontaneous movements
lethargy, neonatal

Head And Neck Face:
dysmorphic facies

Muscle Soft Tissue:
edema, nonpitting

Cardiovascular Vascular:
patent ductus arteriosus

Metabolic Features:
lactic acidosis

Growth Other:
small for gestational age

Abdomen Gastrointestinal:
poor feeding

Head And Neck Neck:
redundant skin over the neck

Clinical features from OMIM:

610498

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Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 2

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 2

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Genetic Tests for Combined Oxidative Phosphorylation Deficiency 2

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 2:

#	Genetic test	Affiliating Genes
1	Combined Oxidative Phosphorylation Deficiency 2 ³⁰	MRPS16

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Anatomical Context for Combined Oxidative Phosphorylation Deficiency 2

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 2:

⁴²

Skin, Liver, Testes

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Publications for Combined Oxidative Phosphorylation Deficiency 2

Articles related to Combined Oxidative Phosphorylation Deficiency 2:

#	Title	Authors	Year
1	Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. ( 15505824 )	Miller C...Elpeleg O	2004

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Genes for Combined Oxidative Phosphorylation Deficiency 2

Genes related to Combined Oxidative Phosphorylation Deficiency 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MRPS16	Mitochondrial Ribosomal Protein S16	Protein Coding	1377.69	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)
2	DNAJC9-AS1	DNAJC9 Antisense RNA 1	RNA Gene	7.87	GeneCards inferred via : Variants (show sections)

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Variations for Combined Oxidative Phosphorylation Deficiency 2

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 2:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MRPS16	NM_016065.3(MRPS16): c.331C> T (p.Arg111Ter)	single nucleotide variant	Pathogenic	rs104894168	GRCh37	Chromosome 10, 75010693: 75010693
2	MRPS16	NM_016065.3(MRPS16): c.331C> T (p.Arg111Ter)	single nucleotide variant	Pathogenic	rs104894168	GRCh38	Chromosome 10, 73250935: 73250935

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Expression for Combined Oxidative Phosphorylation Deficiency 2

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 2.

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Pathways for Combined Oxidative Phosphorylation Deficiency 2

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GO Terms for Combined Oxidative Phosphorylation Deficiency 2

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Sources for Combined Oxidative Phosphorylation Deficiency 2

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⁷² TGDB

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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Combined Oxidative Phosphorylation Deficiency 2 (COXPD2)

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 2

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 2:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Combined Oxidative Phosphorylation Deficiency 2

Related Diseases for Combined Oxidative Phosphorylation Deficiency 2

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 2

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 2

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 2

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 2:

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 2

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 2:

Publications for Combined Oxidative Phosphorylation Deficiency 2

Articles related to Combined Oxidative Phosphorylation Deficiency 2:

Genes for Combined Oxidative Phosphorylation Deficiency 2

Genes related to Combined Oxidative Phosphorylation Deficiency 2 (1 elite genes):

Variations for Combined Oxidative Phosphorylation Deficiency 2

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 2:

Expression for Combined Oxidative Phosphorylation Deficiency 2

Pathways for Combined Oxidative Phosphorylation Deficiency 2

GO Terms for Combined Oxidative Phosphorylation Deficiency 2

Sources for Combined Oxidative Phosphorylation Deficiency 2