MCID: HMG024
MIFTS: 13

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 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:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D58.2
Orphanet 58 ORPHA280615

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).

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

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

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

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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