MCID: THL011
MIFTS: 16

Thalassemia-Beta, Dominant Inclusion-Body malady

Nephrological, Blood categories

Summaries for Thalassemia-Beta, Dominant Inclusion-Body

Sources:
47OMIM, 33MalaCards
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MalaCards: Thalassemia-Beta, Dominant Inclusion-Body, also known as inclusion body beta-thalassemia, is related to 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:47 603902

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

Sources:
47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
inclusion body beta-thalassemia:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

thalassemia-beta, dominant inclusion-body 47
inclusion body beta-thalassemia 49
dominant beta-thalassemia 49


External Ids:

ICD10 via Orphanet26 D56.1
OMIM47 603902

Related Diseases for Thalassemia-Beta, Dominant Inclusion-Body

Sources:
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
1thalassemia30.4HBB
2beta thalassemia10.3
3alpha thalassemia10.1
4hemoglobin s beta-thalassemia10.1
5hemoglobin c - beta-thalassemia10.1
6deficiency anemia10.0HBB
7heinz body anemias, beta-10.0HBBP1, HBB
8thalassemias, beta-10.0HBBP1, HBB
9sickle 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

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

603902

Symptoms:

49 (show all 6)
  • hepatitis/icterus/cholestasis
  • splenomegaly
  • anaemia
  • microcytic anemia
  • hemoglobinosis/hemoglobinopathy
  • pallor

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

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Thalassemia-Beta, Dominant Inclusion-Body

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

Sources:
28inGenious Targeting Laboratory
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Publications for Thalassemia-Beta, Dominant Inclusion-Body

Sources:
51PubMed
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Articles related to Thalassemia-Beta, Dominant Inclusion-Body:

idTitleAuthorsYear
1
Molecular basis for dominantly inherited inclusion body beta- thalassemia. (1971109)
1990

Genetic Variations for Thalassemia-Beta, Dominant Inclusion-Body

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

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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thalassemia-Beta, Dominant Inclusion-Body

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet