MCID: SCK020
MIFTS: 16

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 54
Sickle Cell-Hemoglobin D Disease Syndrome 54 60
Hbsd Disease 54 60
Sickle Cell-Hemoglobin D Disease 30
Hemoglobin Sd Disease 74

Characteristics:

Orphanet epidemiological data:

60
sickle cell-hemoglobin d disease syndrome
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:



External Ids:

ICD10 via Orphanet 35 D57.2
UMLS via Orphanet 75 C0272084
Orphanet 60 ORPHA251370
UMLS 74 C0272084

Summaries for Sickle Cell - Hemoglobin D Disease

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 251370Disease definitionA 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.Visit the Orphanet disease page for more resources.

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). Affiliated tissues include bone and brain.

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 10.3
2 acute chest syndrome 10.0

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 30

Anatomical Context for Sickle Cell - Hemoglobin D Disease

MalaCards organs/tissues related to Sickle Cell - Hemoglobin D Disease:

42
Bone, Brain

Publications for Sickle Cell - Hemoglobin D Disease

Articles related to Sickle Cell - Hemoglobin D Disease:

# Title Authors Year
1
Pulmonary thromboembolism in a child with sickle cell hemoglobin d disease in the setting of acute chest syndrome. ( 24159402 )
2013
2
First report of successful stem cell transplantation in a patient with sickle cell hemoglobin D disease. ( 20502357 )
2010
3
Sickle cell hemoglobin D disease: first reported case in Iran. ( 754514 )
1978
4
SICKLE CELL HEMOGLOBIN D DISEASE IN A NEGRO COLOMBIAN PATIENT. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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