MCID: SCK020
MIFTS: 14

Sickle Cell - Hemoglobin D Disease

Categories: Blood diseases, Bone diseases, Rare diseases

Aliases & Classifications for Sickle Cell - Hemoglobin D Disease

MalaCards integrated aliases for Sickle Cell - Hemoglobin D Disease:

Name: Sickle Cell - Hemoglobin D Disease 20
Sickle Cell-Hemoglobin D Disease Syndrome 20 58
Hbsd Disease 20 58
Sickle Cell-Hemoglobin D Disease 29
Hemoglobin Sd Disease 70

Characteristics:

Orphanet epidemiological data:

58
sickle cell-hemoglobin d disease syndrome
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D57.2
UMLS via Orphanet 71 C0272084
Orphanet 58 ORPHA251370
UMLS 70 C0272084

Summaries for Sickle Cell - Hemoglobin D Disease

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 251370 Definition A rare, genetic hemoglobinopathy characterized by anemia and erythrocyte abnormalities including anisocytosis, poikilocytosis, target cells, and irreversibly sickled cells. Clinical course is similar to sickle cell disease, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis.

MalaCards based summary : Sickle Cell - Hemoglobin D Disease, also known as sickle cell-hemoglobin d disease syndrome, is related to hemoglobin d disease and acute chest syndrome. An important gene associated with Sickle Cell - Hemoglobin D Disease is HBB (Hemoglobin Subunit Beta).

Related Diseases for Sickle Cell - Hemoglobin D Disease

Diseases related to Sickle Cell - Hemoglobin D Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hemoglobin d disease 10.4
2 acute chest syndrome 10.3
3 sickle cell disease 10.3

Symptoms & Phenotypes for Sickle Cell - Hemoglobin D Disease

Drugs & Therapeutics for Sickle Cell - Hemoglobin D Disease

Search Clinical Trials , NIH Clinical Center for Sickle Cell - Hemoglobin D Disease

Genetic Tests for Sickle Cell - Hemoglobin D Disease

Genetic tests related to Sickle Cell - Hemoglobin D Disease:

# Genetic test Affiliating Genes
1 Sickle Cell-Hemoglobin D Disease 29

Anatomical Context for Sickle Cell - Hemoglobin D Disease

Publications for Sickle Cell - Hemoglobin D Disease

Articles related to Sickle Cell - Hemoglobin D Disease:

# Title Authors PMID Year
1
Pulmonary thromboembolism in a child with sickle cell hemoglobin d disease in the setting of acute chest syndrome. 61
24159402 2013
2
First report of successful stem cell transplantation in a patient with sickle cell hemoglobin D disease. 61
20502357 2010
3
Sickle cell hemoglobin D disease: first reported case in Iran. 61
754514 1978
4
SICKLE CELL HEMOGLOBIN D DISEASE IN A NEGRO COLOMBIAN PATIENT. 61
14295513 1965

Variations for Sickle Cell - Hemoglobin D Disease

Expression for Sickle Cell - Hemoglobin D Disease

Search GEO for disease gene expression data for Sickle Cell - Hemoglobin D Disease.

Pathways for Sickle Cell - Hemoglobin D Disease

GO Terms for Sickle Cell - Hemoglobin D Disease

Sources for Sickle Cell - Hemoglobin D Disease

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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