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 ⁵⁸

Transient Neonatal Cyanosis and Anemia Due to Toms River Hemoglobin ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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: ³³

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

Haemolytic anaemias

Other hereditary haemolytic anaemias

Other haemoglobinopathies

Orphanet: ⁵⁸

Rare haematological diseases

External Ids:

ICD10 via Orphanet ³³ D58.2

Orphanet ⁵⁸ ORPHA280615

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Summaries for Hemoglobinopathy Toms River

MalaCards based summary : Hemoglobinopathy Toms River, also known as transient neonatal cyanosis and anemia due to toms river hemoglobin, is related to cyanosis, transient neonatal and fetal hemoglobin quantitative trait locus 1. An important gene associated with Hemoglobinopathy Toms River is HBG2 (Hemoglobin Subunit Gamma 2).

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Related Diseases for Hemoglobinopathy Toms River

Diseases related to Hemoglobinopathy Toms River via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	cyanosis, transient neonatal	9.6	LOC106099065 HBG2
2	fetal hemoglobin quantitative trait locus 1	9.5	LOC106099065 HBG2

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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

Articles related to Hemoglobinopathy Toms River:

#	Title	Authors	PMID	Year
1	A hemoglobin variant associated with neonatal cyanosis and anemia. ⁶	Crowley MA...Weiss MJ	21561349	2011
2	Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT]. ⁶	Dainer E...Kutlar F	19065339	2008
3	Hb F-M-Osaka [Ggamma63(E7)His --> tyr] in a newborn from southwest France. ⁶	Prehu C...Wajcman H	12603090	2003
4	A new case of Hb F-M-Osaka [G gamma 63(E7)His-->Tyr] showed only benign neonatal cyanosis. ⁶	Urabe D...Ohba Y	8811323	1996
5	Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis. ⁶	Kohli-Kumar M...Rucknagel DL	7741137	1995
6	Mutant fetal hemoglobin causing cyanosis in a newborn. ⁶	Priest JR...Hedlund BE	2470017	1989
7	Hemoglobin FM-Fort Ripley: another lesson from the neonate. ⁶	Glader BE	2470018	1989
8	Hb F-M-Osaka or alpha 2G gamma 2(63)(E7)His----Tyr in a Caucasian male infant. ⁶	Glader BE...Huisman TH	2483933	1989
9	A new abnormal fetal hemoglobin, Hb FM-Osaka (alpha 2 gamma 2 63His replaced by Tyr). ⁶	Hayashi A...Titani K	6158500	1980

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Genes for Hemoglobinopathy Toms River

Genes related to Hemoglobinopathy Toms River (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	HBG2	Hemoglobin Subunit Gamma 2	Protein Coding	750	Pathogenic ⁶ Causative germline mutation ⁵⁸	19065339
2	LOC106099065	HBG2 Recombination Region	Biological Region	400	Pathogenic ⁶	21561349 7741137 2470017 (more) 2483933 2470018 6158500 8811323 12603090 19065339

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Variations for Hemoglobinopathy Toms River

ClinVar genetic disease variations for Hemoglobinopathy Toms River:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	LOC106099065	NM_000184.3(HBG2):c.190C>T (p.His64Tyr)	SNV	Pathogenic	14981	rs34474104	11:5275647-5275647	11:5254417-5254417
2	LOC106099065	NM_000184.2(HBG2):c.277C>T (p.His93Tyr)	SNV	Pathogenic	14989	rs35103459	11:5275560-5275560	11:5254330-5254330
3	LOC106099065	NM_000184.3(HBG2):c.125T>C (p.Phe42Ser)	SNV	Pathogenic	14996	rs34878913	11:5275712-5275712	11:5254482-5254482
4	HBG2	H63L	Variation	Pathogenic	29752
5	LOC106099065	NM_000184.3(HBG2):c.202G>A (p.Val68Met)	SNV	Pathogenic	29753	rs587776864	11:5275635-5275635	11:5254405-5254405
6	LOC106099065	NM_000184.3(HBG2):c.85C>A (p.Leu29Met)	SNV	Pathogenic	800493	rs1278163109	11:5275874-5275874	11:5254644-5254644

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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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