MCID: THL011
MIFTS: 16

Thalassemia-Beta, Dominant Inclusion-Body malady

Nephrological diseases, Blood diseases, Rare diseases categories
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Summaries for Thalassemia-Beta, Dominant Inclusion-Body

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MalaCards based summary: 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:46 603902

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

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Thalassemia-Beta, Dominant Inclusion-Body, Aliases & Descriptions:

Name: Thalassemia-Beta, Dominant Inclusion-Body 46
Inclusion Body Beta-Thalassemia 48
 
Dominant Beta-Thalassemia 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 603902
ICD10 via Orphanet26 D56.1

Related Diseases for Thalassemia-Beta, Dominant Inclusion-Body

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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
1thalassemia10.3
2beta thalassemia10.3

Symptoms for Thalassemia-Beta, Dominant Inclusion-Body

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Clinical features from OMIM:

603902

Symptoms:

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

HPO human phenotypes related to Thalassemia-Beta, Dominant Inclusion-Body:

id Description Frequency HPO Source Accession
1 pallor hallmark (90%) HP:0000980
2 abnormality of the liver hallmark (90%) HP:0001392
3 splenomegaly hallmark (90%) HP:0001744
4 microcytic anemia hallmark (90%) HP:0001935
5 abnormality of the heme biosynthetic pathway hallmark (90%) HP:0010472

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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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 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
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet