MCID: THL011
MIFTS: 21

Thalassemia-Beta, Dominant Inclusion-Body malady

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

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

About this section
Sources:
12diseasecard, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 52OMIM, 54Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Thalassemia-Beta, Dominant Inclusion-Body 52 12
Beta Thalassemia Dominant Inclusion Body Type 70 27
Dyserythropoietic Anemia Congenital Irish or Weatherall Type 70
Beta-Thalassemia, Dominant, Inclusion Body Type 70
 
Beta-Thalassemia, Dominant Inclusion Body Type 52
Inclusion Body Beta-Thalassemia 54
Dominant Beta-Thalassemia 54
B-Thalib 70

Characteristics:

Orphanet epidemiological data:

54
inclusion body beta-thalassemia:
Inheritance: Autosomal dominant; Age of onset: Childhood

Classifications:



External Ids:

OMIM52 603902
Orphanet54 ORPHA231226
ICD10 via Orphanet31 D56.1
MedGen37 C1858990

Summaries for Thalassemia-Beta, Dominant Inclusion-Body

About this section
UniProtKB/Swiss-Prot:70 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:52 603902

Related Diseases for Thalassemia-Beta, Dominant Inclusion-Body

About this section

Diseases related to Thalassemia-Beta, Dominant Inclusion-Body via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1thalassemia10.2

Symptoms & Phenotypes for Thalassemia-Beta, Dominant Inclusion-Body

About this section


Clinical features from OMIM:

603902

Human phenotypes related to Thalassemia-Beta, Dominant Inclusion-Body:

 64 54 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pallor64 54 hallmark (90%) Very frequent (99-80%) HP:0000980
2 abnormality of the liver64 hallmark (90%) HP:0001392
3 splenomegaly64 54 hallmark (90%) Very frequent (99-80%) HP:0001744
4 microcytic anemia64 54 hallmark (90%) Very frequent (99-80%) HP:0001935
5 abnormality of the heme biosynthetic pathway64 hallmark (90%) HP:0010472
6 jaundice54 Very frequent (99-80%)
7 anemia54 Very frequent (99-80%)
8 abnormal hemoglobin54 Very frequent (99-80%)

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

About this section

Interventional clinical trials:

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

Genetic Tests for Thalassemia-Beta, Dominant Inclusion-Body

About this section

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

id Genetic test Affiliating Genes
1 Beta-Thalassemia, Dominant Inclusion Body Type27

Anatomical Context for Thalassemia-Beta, Dominant Inclusion-Body

About this section

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

36
Bone marrow, Bone, Liver

Publications for Thalassemia-Beta, Dominant Inclusion-Body

About this section

Variations for Thalassemia-Beta, Dominant Inclusion-Body

About this section

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)SNVPathogenicrs33946267GRCh37Chr 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

About this section
Search GEO for disease gene expression data for Thalassemia-Beta, Dominant Inclusion-Body.

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

About this section

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

About this section

Sources for Thalassemia-Beta, Dominant Inclusion-Body

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet