MCID: HMG029
MIFTS: 23

Hemoglobin Se Disease

Categories: Rare diseases, Blood diseases, Genetic diseases, Endocrine diseases

Aliases & Classifications for Hemoglobin Se Disease

MalaCards integrated aliases for Hemoglobin Se Disease:

Name: Hemoglobin Se Disease 53 73
Sickle Cell-Hemoglobin E Disease Syndrome 53 59
Hb Ss Disease 29 6
Hbse Disease 53 59
Sickle Cell - Hemoglobin E Disease 53
Anemia, Sickle Cell 73

Characteristics:

Orphanet epidemiological data:

59
sickle cell-hemoglobin e disease syndrome
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:



External Ids:

Orphanet 59 ORPHA251375
UMLS via Orphanet 74 C0272085
ICD10 via Orphanet 34 D57.2
UMLS 73 C1112747

Summaries for Hemoglobin Se Disease

MalaCards based summary : Hemoglobin Se Disease, also known as sickle cell-hemoglobin e disease syndrome, is related to sickle cell anemia and hemoglobin e disease, and has symptoms including abdominal pain, angina pectoris and chest pain. An important gene associated with Hemoglobin Se Disease is HBB (Hemoglobin Subunit Beta). Affiliated tissues include bone and bone marrow.

Related Diseases for Hemoglobin Se Disease

Diseases in the Hemoglobin H Disease family:

Hemoglobin C Disease Hemoglobin D Disease
Hemoglobin E Disease Hemoglobin Se Disease

Diseases related to Hemoglobin Se Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 sickle cell anemia 11.2
2 hemoglobin e disease 10.1
3 thalassemia 9.8

Symptoms & Phenotypes for Hemoglobin Se Disease

UMLS symptoms related to Hemoglobin Se Disease:


abdominal pain, angina pectoris, chest pain, edema

Drugs & Therapeutics for Hemoglobin Se Disease

Search Clinical Trials , NIH Clinical Center for Hemoglobin Se Disease

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Hemoglobin Se Disease

Genetic tests related to Hemoglobin Se Disease:

# Genetic test Affiliating Genes
1 Hb Ss Disease 29 HBB

Anatomical Context for Hemoglobin Se Disease

MalaCards organs/tissues related to Hemoglobin Se Disease:

41
Bone, Bone Marrow

Publications for Hemoglobin Se Disease

Articles related to Hemoglobin Se Disease:

# Title Authors Year
1
Unrecognized hemoglobin SE disease as microcytosis. ( 27365881 )
2016
2
First Reported Case of Proliferative Retinopathy in Hemoglobin SE Disease. ( 25210638 )
2014
3
Fatal bone marrow embolism in a child with hemoglobin SE disease. ( 20131308 )
2010
4
Hemoglobin SE disease in Maine, and severe thalassemia in New Hampshire. ( 19346889 )
2009
5
Hemoglobin SE disease: a concise review. ( 17278112 )
2007
6
Functional asplenia in hemoglobin SE disease. ( 7060304 )
1982

Variations for Hemoglobin Se Disease

ClinVar genetic disease variations for Hemoglobin Se Disease:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs33930165 GRCh37 Chromosome 11, 5248233: 5248233
2 HBB NM_000518.4(HBB): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs33930165 GRCh38 Chromosome 11, 5227003: 5227003
3 HBB NM_000518.4(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs33950507 GRCh37 Chromosome 11, 5248173: 5248173
4 HBB NM_000518.4(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs33950507 GRCh38 Chromosome 11, 5226943: 5226943
5 HBB NM_000518.4(HBB): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic rs33946267 GRCh37 Chromosome 11, 5246908: 5246908
6 HBB NM_000518.4(HBB): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic rs33946267 GRCh38 Chromosome 11, 5225678: 5225678
7 HBB NM_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh37 Chromosome 11, 5248232: 5248232
8 HBB NM_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh38 Chromosome 11, 5227002: 5227002
9 HBB NM_000518.4(HBB): c.9T> C (p.His3=) single nucleotide variant Benign rs713040 GRCh37 Chromosome 11, 5248243: 5248243
10 HBB NM_000518.4(HBB): c.9T> C (p.His3=) single nucleotide variant Benign rs713040 GRCh38 Chromosome 11, 5227013: 5227013
11 HBB NM_000518.4(HBB): c.*56A> T single nucleotide variant Uncertain significance rs537944366 GRCh37 Chromosome 11, 5246772: 5246772
12 HBB NM_000518.4(HBB): c.*56A> T single nucleotide variant Uncertain significance rs537944366 GRCh38 Chromosome 11, 5225542: 5225542
13 HBB NM_000518.4(HBB): c.*53C> A single nucleotide variant Uncertain significance rs886048393 GRCh37 Chromosome 11, 5246775: 5246775
14 HBB NM_000518.4(HBB): c.*53C> A single nucleotide variant Uncertain significance rs886048393 GRCh38 Chromosome 11, 5225545: 5225545

Expression for Hemoglobin Se Disease

Search GEO for disease gene expression data for Hemoglobin Se Disease.

Pathways for Hemoglobin Se Disease

GO Terms for Hemoglobin Se Disease

Sources for Hemoglobin Se Disease

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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