MCID: THL011
MIFTS: 10

Thalassemia-Beta, Dominant Inclusion-Body malady

Genetic diseases (common), Blood diseases categories

Summaries for Thalassemia-Beta, Dominant Inclusion-Body

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MalaCards based summary: Thalassemia-Beta, Dominant Inclusion-Body, is also known as beta-thalassemia, dominant inclusion body type An important gene associated with Thalassemia-Beta, Dominant Inclusion-Body is HBB (hemoglobin, beta).

Description from OMIM:45 603902

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

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Thalassemia-Beta, Dominant Inclusion-Body, Aliases & Descriptions:

Name: Thalassemia-Beta, Dominant Inclusion-Body 45 10
 
Beta-Thalassemia, Dominant Inclusion Body Type 45 22


Classifications:

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


External Ids:

OMIM45 603902

Related Diseases for Thalassemia-Beta, Dominant Inclusion-Body

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Symptoms for Thalassemia-Beta, Dominant Inclusion-Body

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Clinical features from OMIM:

603902

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

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Drug clinical trials:

Search ClinicalTrials for Thalassemia-Beta, Dominant Inclusion-Body

Search NIH Clinical Center for Thalassemia-Beta, Dominant Inclusion-Body

Genetic Tests for Thalassemia-Beta, Dominant Inclusion-Body

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Genetic tests related to Thalassemia-Beta, Dominant Inclusion-Body:

id Genetic test Affiliating Genes
1 Beta Thalassemia, Dominant Inclusion Body Type22

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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Clinvar genetic disease variations for Thalassemia-Beta, Dominant Inclusion-Body:

6
id Gene Variation 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
3HBBNM_000518.4(HBB): c.201delA (p.Val68Cysfs)deletionLikely pathogenicrs193922553GRCh37Chr 11, 5247921: 5247921

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

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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
  • Proteins
  • Kits and Assays

Sources for Thalassemia-Beta, Dominant Inclusion-Body

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet