MCID: HMG024
MIFTS: 6

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:

Orphanet 59 ORPHA280615
ICD10 via Orphanet 34 D58.2

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

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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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