Hemoglobinopathy Toms River disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hemoglobinopathy Toms River

MalaCards integrated aliases for Hemoglobinopathy Toms River:

Name: Hemoglobinopathy Toms River ⁵⁹

Transient Neonatal Cyanosis and Anemia Due to Toms River Hemoglobin ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

hemoglobinopathy toms river
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Haemolytic anaemias

Other hereditary haemolytic anaemias

Other haemoglobinopathies

Orphanet: ⁵⁹

Rare haematological diseases

External Ids:

Orphanet ⁵⁹ ORPHA280615

ICD10 via Orphanet ³⁴ D58.2

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Summaries for Hemoglobinopathy Toms River

MalaCards based summary : Hemoglobinopathy Toms River, is also known as transient neonatal cyanosis and anemia due to toms river hemoglobin. An important gene associated with Hemoglobinopathy Toms River is HBG2 (Hemoglobin Subunit Gamma 2).

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Related Diseases for Hemoglobinopathy Toms River

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Symptoms & Phenotypes for Hemoglobinopathy Toms River

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Drugs & Therapeutics for Hemoglobinopathy Toms River

Search Clinical Trials , NIH Clinical Center for Hemoglobinopathy Toms River

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Genetic Tests for Hemoglobinopathy Toms River

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Anatomical Context for Hemoglobinopathy Toms River

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Publications for Hemoglobinopathy Toms River

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Genes for Hemoglobinopathy Toms River

Genes related to Hemoglobinopathy Toms River (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HBG2	Hemoglobin Subunit Gamma 2	Protein Coding	750	Pathogenic ⁶ Causative germline mutation ⁵⁹

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Variations for Hemoglobinopathy Toms River

ClinVar genetic disease variations for Hemoglobinopathy Toms River:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	HBG2	NM_000184.2(HBG2): c.190C> T (p.His64Tyr)	single nucleotide variant	Pathogenic	rs34474104	GRCh37	Chromosome 11, 5275647: 5275647
2	HBG2	NM_000184.2(HBG2): c.190C> T (p.His64Tyr)	single nucleotide variant	Pathogenic	rs34474104	GRCh38	Chromosome 11, 5254417: 5254417
3	HBG2	NM_000184.2(HBG2): c.277C> T (p.His93Tyr)	single nucleotide variant	Pathogenic	rs35103459	GRCh37	Chromosome 11, 5275560: 5275560
4	HBG2	NM_000184.2(HBG2): c.277C> T (p.His93Tyr)	single nucleotide variant	Pathogenic	rs35103459	GRCh38	Chromosome 11, 5254330: 5254330
5	HBG2	NM_000184.2(HBG2): c.125T> C (p.Phe42Ser)	single nucleotide variant	Pathogenic	rs34878913	GRCh37	Chromosome 11, 5275712: 5275712
6	HBG2	NM_000184.2(HBG2): c.125T> C (p.Phe42Ser)	single nucleotide variant	Pathogenic	rs34878913	GRCh38	Chromosome 11, 5254482: 5254482
7	HBG2	HBG2, HIS63LEU	undetermined variant	Pathogenic
8	HBG2	NM_000184.2(HBG2): c.202G> A (p.Val68Met)	single nucleotide variant	Pathogenic	rs587776864	GRCh38	Chromosome 11, 5254405: 5254405
9	HBG2	NM_000184.2(HBG2): c.202G> A (p.Val68Met)	single nucleotide variant	Pathogenic	rs587776864	GRCh37	Chromosome 11, 5275635: 5275635

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Expression for Hemoglobinopathy Toms River

Search GEO for disease gene expression data for Hemoglobinopathy Toms River.

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Pathways for Hemoglobinopathy Toms River

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GO Terms for Hemoglobinopathy Toms River

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Sources for Hemoglobinopathy Toms River

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia