MCID: HMG001
MIFTS: 29

Hemoglobin C Disease malady

Genetic diseases, Rare diseases, Blood diseases categories
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Summaries for Hemoglobin C Disease

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65Wikipedia, 33MalaCards
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Wikipedia:65 Hemoglobin C (abbreviated as Hb C or HbC) is an abnormal hemoglobin in which substitution of a glutamic... more...

MalaCards: Hemoglobin C Disease, also known as hb c disease, is related to sickle cell - hemoglobin c disease and sickle cell anemia. An important gene associated with Hemoglobin C Disease is HBB (hemoglobin, beta). Affiliated tissues include spleen, bone and bone marrow.

Aliases & Classifications for Hemoglobin C Disease

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8Disease Ontology, 43NIH Rare Diseases, 49Orphanet, 62UMLS, 40NCIt, 35MeSH, 58SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

49
hemoglobin c disease:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

hemoglobin c disease 8 43 49 62
hb c disease 43 62
hb-c disease 8


External Ids:

Disease Ontology8 DOID:2859
NCIt40 C34675
MeSH35 D006445
MESH via Orphanet36 D006445
SNOMED-CT58 51053007
ICD10 via Orphanet26 D58.2
SNOMED-CT via Orphanet59 51053007
UMLS via Orphanet63 C0019021

Related Diseases for Hemoglobin C Disease

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17GeneCards, 18GeneDecks
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Diseases in the Hemoglobin E Disease family:

hemoglobin c disease Hemoglobin D Disease
Hemoglobin Sd Hemoglobin Ss
Hemoglobin So

Diseases related to Hemoglobin C Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1sickle cell - hemoglobin c disease10.9
2sickle cell anemia10.5
3splenic sequestration10.4
4thalassemia10.4
5thrombotic thrombocytopenic purpura10.3
6splenic infarction10.3
7purpura10.3
8sickle cell disease10.3
9diabetes mellitus10.2
10hemoglobinopathy10.2
11hemolytic anemia10.2
12osteomyelitis10.2
13mononeuritis multiplex10.1
14mononeuritis10.1
15rheumatic fever10.1
16gout10.1
17retinitis10.1
18essential thrombocythemia10.1
19hemoglobin c - beta-thalassemia10.1

Graphical network of diseases related to Hemoglobin C Disease:



Diseases related to hemoglobin c disease

Symptoms for Hemoglobin C Disease

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Drugs & Therapeutics for Hemoglobin C Disease

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hemoglobin C Disease

Search NIH Clinical Center for Hemoglobin C Disease

Genetic Tests for Hemoglobin C Disease

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Anatomical Context for Hemoglobin C Disease

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33MalaCards
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MalaCards organs/tissues related to Hemoglobin C Disease:

33
Spleen, Bone, Bone marrow

Animal Models for Hemoglobin C Disease or affiliated genes

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Publications for Hemoglobin C Disease

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52PubMed
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Articles related to Hemoglobin C Disease:

(show top 50)    (show all 90)
idTitleAuthorsYear
1
Severe proliferative retinopathy is associated with blood hyperviscosity in sickle cell hemoglobin-C disease but not in sickle cell anemia. (23076002)
2013
2
Relationships between systemic vascular resistance, blood rheology and nitric oxide in children with sickle cell anemia or sickle cell-hemoglobin C disease. (23302597)
2013
3
Homozygous hemoglobin C disease. (24137818)
2013
4
Paravertebral mass in a patient with hemoglobin C disease. (21602071)
2011
5
Diverse phenotypic expression of sickle cell hemoglobin C disease in an Indian family. (20556388)
2011
6
Thrombotic thrombocytopenic purpura and multiorgan system failure in a child with sickle cell-hemoglobin C disease. (19525485)
2010
7
Red blood cell aggregation, aggregate strength and oxygen transport potential of blood are abnormal in both homozygous sickle cell anemia and sickle-hemoglobin C disease. (19644138)
2009
8
Successful mobilization and transplantation of filgrastim mobilized hematopoietic stem cells in sickle cell-hemoglobin C disease. (16708064)
2006
9
Intrathoracic extramedullary hematopoietic tumor in hemoglobin C disease. (9140302)
1997
10
Intrathoracic extramedullary hematopoietic tumor in hemoglobin C disease. (9140301)
1997
11
Intrathoracic extramedullary hematopoietic tumor in hemoglobin C disease. (8639058)
1996
12
Evolution of a retinal hemorrhage in a patient with sickle cell-hemoglobin C disease. (7639661)
1995
13
Retrospective diagnosis of sickle cell-hemoglobin C disease and parvovirus infection by molecular DNA analysis of postmortem tissue. (8522312)
1995
14
Thrombotic thrombocytopenic purpura associated with sickle cell-hemoglobin C disease. (7973909)
1994
15
A fatal case of acute splenic sequestration in a 53-year-old woman with sickle-hemoglobin C disease. (1731518)
1992
16
The distinct pathobiology of sickle cell-hemoglobin C disease. Therapeutic implications. (1864818)
1991
17
Vasoocclusion with homozygous hemoglobin-C disease. (3239710)
1988
18
Sickle-cell hemoglobin C disease in pregnancy: report of a case with review of the literature. (7380681)
1980
19
Splenic sequestration syndrome in sickle/hemoglobin C disease at low altitude. (874706)
1977
20
Spontaneous rupture of the spleen in homozygous hemoglobin C disease. (576317)
1977
21
Splenic infarction in sickle cell-hemoglobin C disease. Demonstration by selective splenic arteriogram and scintillation scan. (949192)
1976
22
Red cell life span in sickle cell-hemoglobin C disease with a note about sickle cell-hemoglobin O ARAB. (1120186)
1975
23
Occlusion of the macular capillaries in sickle cell hemoglobin C disease. (4819448)
1974
24
Fractionation studies of copper in erythrocytes from normal, sickle cell anemia, and hemoglobin C disease. (5423505)
1970
25
Homozygous hemoglobin C disease: Clinical review of fifteen patients. (5643614)
1968
26
Homozygous hemoglobin C disease and pregnancy. (5742480)
1968
27
Thalassemia--hemoglobin C disease in white siblings. (5989222)
1966
28
THE COEXISTENCE OF ACUTE RHEUMATIC FEVER AND SICKLE CELL-HEMOGLOBIN C DISEASE. (14247521)
1965
29
HEMOGLOBIN C DISEASE. QUANTITATIVE DETERMINATION OF IRON KINETICS AND HEMOGLOBIN SYNTHESIS. (14158490)
1964
30
SICKLE CELL--HEMOGLOBIN C DISEASE. (14208415)
1964
31
HEMOGLOBIN C DISEASE IN A SICILIAN-CANADIAN FAMILY. (14084707)
1963
32
Roentgenographic and clinical appraisal of sickle cell-hemoglobin C disease. (14491713)
1962
33
Salmonella typhimurium osteomyelitis with sickle cell-hemoglobin C disease: a review and case report. (13785022)
1961
34
Hemoglobin C disease. Report of a case in a 12 year old Negro. (13908880)
1961
35
Hemoglobin C disease in an Anglo-Saxon family. (13826023)
1960
36
Sickle cell hemoglobin-C disease treated by splenectomy. (13835649)
1960
37
Pulmonary infarction and atrophy of the spleen associated with sickle-cell hemoglobin C disease. (13657308)
1959
38
Hemolytic studies in homozygous hemoglobin C disease. (13661102)
1959
39
Sickle cell-hemoglobin C disease; report of a case associated with sudden coma in the puerperium. (13633147)
1959
40
Homozygous hemoglobin C disease: report of three cases. (13545731)
1958
41
Homozygous hemoglobin C disease; relation to military service. (13422753)
1957
42
Homozygous hemoglobin C disease in a 79 year old man with gout. (13403527)
1957
43
Sickle-cell-hemoglobin-C disease; report of a case with electrophoretic studies of hemoglobin in family members. (13275117)
1956
44
Vitreous hemorrhages associated with sickle cell-hemoglobin C disease. (13372691)
1956
45
Gross hematuria in sickle cell trait and sickle cell hemoglobin-C disease. (13268478)
1955
46
Hemoglobin-C disease. (14387324)
1955
47
Homozygous hemoglobin C disease; report of a case with studies on the pathophysiology and neonatal formation of hemoglobin C. (14361465)
1955
48
Studies in sickle-cell anemia. V. Sickle-cell hemoglobin C disease; report of two cases in siblings with clinical and genetic observations and a brief review of the literature. (14387282)
1955
49
Studies on abnormal hemoglobins. IX. Pure (homozygous) hemoglobin C disease. (13208754)
1954
50
Thalassemia-hemoglobin C disease; a new syndrome presumably due to the combination of the genes for thalassemia and hemoglobin C. (13208756)
1954

Variations for Hemoglobin C Disease

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Expression for genes affiliated with Hemoglobin C Disease

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemoglobin C Disease

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

Pathways for genes affiliated with Hemoglobin C Disease

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Compounds for genes affiliated with Hemoglobin C Disease

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GO Terms for genes affiliated with Hemoglobin C Disease

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Products for genes affiliated with Hemoglobin C Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemoglobin C Disease

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet