MCID: THL011
MIFTS: 19

Thalassemia-Beta, Dominant Inclusion-Body malady

Nephrological diseases, Blood diseases categories

Summaries for Thalassemia-Beta, Dominant Inclusion-Body

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46OMIM, 32MalaCards
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MalaCards: Thalassemia-Beta, Dominant Inclusion-Body, also known as inclusion body beta-thalassemia, is related to alpha thalassemia and beta thalassemia, and has symptoms including hepatitis/icterus/cholestasis, splenomegaly and anaemia. An important gene associated with Thalassemia-Beta, Dominant Inclusion-Body is HBB (hemoglobin, beta).

Description from OMIM:46 603902

Aliases & Classifications for Thalassemia-Beta, Dominant Inclusion-Body

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

48
inclusion body beta-thalassemia:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

thalassemia-beta, dominant inclusion-body 46
inclusion body beta-thalassemia 48
dominant beta-thalassemia 48


External Ids:

ICD10 via Orphanet26 D56.1
OMIM46 603902

Related Diseases for Thalassemia-Beta, Dominant Inclusion-Body

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17GeneCards, 18GeneDecks
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Diseases related to Thalassemia-Beta, Dominant Inclusion-Body via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1alpha thalassemia30.1HBB
2beta thalassemia10.3
3thalassemia10.3
4deficiency anemia10.0HBB
5thalassemias, beta-10.0HBB, HBBP1
6heinz body anemias, beta-10.0HBB, HBBP1
7sickle cell anemia10.0HBBP1, HBB

Graphical network of diseases related to Thalassemia-Beta, Dominant Inclusion-Body:



Diseases related to thalassemia-beta, dominant inclusion-body

Clinical Features for Thalassemia-Beta, Dominant Inclusion-Body

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

603902

Symptoms:

48
  • hepatitis/icterus/cholestasis
  • splenomegaly
  • anaemia
  • microcytic anemia
  • hemoglobinosis/hemoglobinopathy
  • pallor

Drugs & Therapeutics for Thalassemia-Beta, Dominant Inclusion-Body

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Thalassemia-Beta, Dominant Inclusion-Body

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Anatomical Context for Thalassemia-Beta, Dominant Inclusion-Body

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Animal Models for Thalassemia-Beta, Dominant Inclusion-Body or affiliated genes

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Publications for Thalassemia-Beta, Dominant Inclusion-Body

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Genetic Variations for Thalassemia-Beta, Dominant Inclusion-Body

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Expression for genes affiliated with Thalassemia-Beta, Dominant Inclusion-Body

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thalassemia-Beta, Dominant Inclusion-Body

Search GEO for disease gene expression data for Thalassemia-Beta, Dominant Inclusion-Body.

Pathways for genes affiliated with Thalassemia-Beta, Dominant Inclusion-Body

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Compounds for genes affiliated with Thalassemia-Beta, Dominant Inclusion-Body

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GO Terms for genes affiliated with Thalassemia-Beta, Dominant Inclusion-Body

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Products for genes affiliated with Thalassemia-Beta, Dominant Inclusion-Body

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thalassemia-Beta, Dominant Inclusion-Body

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet