MCID: HMG024
MIFTS: 11

Hemoglobinopathy Toms River

Categories: Blood diseases, Rare diseases

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:



External Ids:

ICD10 via Orphanet 34 D58.2
Orphanet 59 ORPHA280615

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).

Related Diseases for Hemoglobinopathy Toms River

Symptoms & Phenotypes for Hemoglobinopathy Toms River

Drugs & Therapeutics for Hemoglobinopathy Toms River

Search Clinical Trials , NIH Clinical Center for Hemoglobinopathy Toms River

Genetic Tests for Hemoglobinopathy Toms River

Anatomical Context for Hemoglobinopathy Toms River

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. 71
21561349 2011
2
Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT]. 71
19065339 2008
3
Hb F-M-Osaka [Ggamma63(E7)His --> tyr] in a newborn from southwest France. 71
12603090 2003
4
A new case of Hb F-M-Osaka [G gamma 63(E7)His-->Tyr] showed only benign neonatal cyanosis. 71
8811323 1996
5
Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis. 71
7741137 1995
6
Mutant fetal hemoglobin causing cyanosis in a newborn. 71
2470017 1989
7
Hemoglobin FM-Fort Ripley: another lesson from the neonate. 71
2470018 1989
8
Hb F-M-Osaka or alpha 2G gamma 2(63)(E7)His----Tyr in a Caucasian male infant. 71
2483933 1989
9
A new abnormal fetal hemoglobin, Hb FM-Osaka (alpha 2 gamma 2 63His replaced by Tyr). 71
6158500 1980

Variations for Hemoglobinopathy Toms River

ClinVar genetic disease variations for Hemoglobinopathy Toms River:

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

Expression for Hemoglobinopathy Toms River

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

Pathways for Hemoglobinopathy Toms River

GO Terms for Hemoglobinopathy Toms River

Sources for Hemoglobinopathy Toms River

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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