MCID: THL011
MIFTS: 16

Thalassemia-Beta, Dominant Inclusion-Body malady

Nephrological diseases, Blood diseases, Rare diseases categories

Summaries for Thalassemia-Beta, Dominant Inclusion-Body

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48OMIM, 34MalaCards
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MalaCards: Thalassemia-Beta, Dominant Inclusion-Body, also known as inclusion body beta-thalassemia, is related to beta thalassemia and 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:48 603902

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

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Sources:
48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
inclusion body beta-thalassemia:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

thalassemia-beta, dominant inclusion-body 48
inclusion body beta-thalassemia 50
dominant beta-thalassemia 50


External Ids:

ICD10 via Orphanet27 D56.1
OMIM48 603902

Related Diseases for Thalassemia-Beta, Dominant Inclusion-Body

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18GeneCards, 19GeneDecks
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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
1beta thalassemia10.3
2thalassemia10.3

Symptoms for Thalassemia-Beta, Dominant Inclusion-Body

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48OMIM, 50Orphanet
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Clinical features from OMIM:

603902

Symptoms:

50
  • hepatitis/icterus/cholestasis
  • splenomegaly
  • anaemia
  • microcytic anemia
  • hemoglobinosis/hemoglobinopathy
  • pallor

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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Variations for Thalassemia-Beta, Dominant Inclusion-Body

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Thalassemia-Beta, Dominant Inclusion-Body:

1
id Gene Name Type Significance SNP ID Assembly Location
1HBBNM_000518.4(HBB): c.364G> T (p.Glu122Ter)single nucleotide variantPathogenicrs33946267GRCh37Chr 11, 5246908: 5246908
2HBBNM_000518.4(HBB): c.385_388delGCTGinsCCACA (p.Ala129Profs)indelPathogenicrs63750860GRCh37Chr 11, 5246884: 5246887

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

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Sources:
2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet