MCID: THL011
MIFTS: 22

Thalassemia-Beta, Dominant Inclusion-Body malady

Categories: Genetic diseases, Nephrological diseases, Blood diseases, Rare diseases

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

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Sources:
50OMIM, 12diseasecard, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 29ICD10 via Orphanet, 35MedGen, 37MeSH
See all MalaCards sources

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

Name: Thalassemia-Beta, Dominant Inclusion-Body 50 12
Beta Thalassemia Dominant Inclusion Body Type 68 25
Dyserythropoietic Anemia Congenital Irish or Weatherall Type 68
Beta-Thalassemia, Dominant, Inclusion Body Type 68
 
Beta-Thalassemia, Dominant Inclusion Body Type 50
Inclusion Body Beta-Thalassemia 52
Dominant Beta-Thalassemia 52
B-Thalib 68

Characteristics:

Orphanet epidemiological data:

52
inclusion body beta-thalassemia:
Inheritance: Autosomal dominant; Age of onset: Childhood

Classifications:



External Ids:

OMIM50 603902
Orphanet52 ORPHA231226
ICD10 via Orphanet29 D56.1
MedGen35 C1858990

Summaries for Thalassemia-Beta, Dominant Inclusion-Body

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UniProtKB/Swiss-Prot:68 Beta-thalassemia, dominant, inclusion body type: An autosomal dominant form of beta thalassemia characterized by moderate anemia, lifelong jaundice, cholelithiasis and splenomegaly, marked morphologic changes in the red cells, erythroid hyperplasia of the bone marrow with increased numbers of multinucleate red cell precursors, and the presence of large inclusion bodies in the normoblasts, both in the marrow and in the peripheral blood after splenectomy.

MalaCards based summary: Thalassemia-Beta, Dominant Inclusion-Body, also known as beta thalassemia dominant inclusion body type, is related to thalassemia, and has symptoms including pallor, abnormality of the liver and splenomegaly. An important gene associated with Thalassemia-Beta, Dominant Inclusion-Body is HBB (Hemoglobin Subunit Beta). Affiliated tissues include bone marrow, bone and liver.

Description from OMIM:50 603902

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1thalassemia10.4

Symptoms for Thalassemia-Beta, Dominant Inclusion-Body

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Clinical features from OMIM:

603902

Symptoms:

 52
  • jaundice
  • pallor
  • splenomegaly
  • anemia
  • microcytic anemia
  • abnormal hemoglobin

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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Interventional clinical trials:

Search ClinicalTrials, 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 Type25

Anatomical Context for Thalassemia-Beta, Dominant Inclusion-Body

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MalaCards organs/tissues related to Thalassemia-Beta, Dominant Inclusion-Body:

34
Bone marrow, Bone, Liver

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:

5
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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GO Terms for genes affiliated with Thalassemia-Beta, Dominant Inclusion-Body

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Sources for Thalassemia-Beta, Dominant Inclusion-Body

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet