B-THALIB
MCID: THL011
MIFTS: 21

Thalassemia-Beta, Dominant Inclusion-Body (B-THALIB) malady

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

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

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

Name: Thalassemia-Beta, Dominant Inclusion-Body 54 13
Beta Thalassemia Dominant Inclusion Body Type 66 29
Dyserythropoietic Anemia Congenital Irish or Weatherall Type 66
Beta-Thalassemia, Dominant, Inclusion Body Type 66
Beta-Thalassemia, Dominant Inclusion Body Type 54
Inclusion Body Beta-Thalassemia 56
Dominant Beta-Thalassemia 56
B-Thalib 66

Characteristics:

Orphanet epidemiological data:

56
dominant beta-thalassemia
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:



External Ids:

OMIM 54 603902
Orphanet 56 ORPHA231226
ICD10 via Orphanet 34 D56.1
MedGen 40 C1858990

Summaries for Thalassemia-Beta, Dominant Inclusion-Body

UniProtKB/Swiss-Prot : 66 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 splenomegaly, pallor and microcytic anemia. An important gene associated with Thalassemia-Beta, Dominant Inclusion-Body is HBB (Hemoglobin Subunit Beta). Affiliated tissues include bone and bone marrow.

Description from OMIM: 603902

Related Diseases for Thalassemia-Beta, Dominant Inclusion-Body

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

id Related Disease Score Top Affiliating Genes
1 thalassemia 10.2

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

Clinical features from OMIM:

603902

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

56 32 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
2 pallor 56 32 Very frequent (99-80%) HP:0000980
3 microcytic anemia 56 32 Very frequent (99-80%) HP:0001935
4 abnormal hemoglobin 56 32 Very frequent (99-80%) HP:0011902
5 jaundice 56 32 Very frequent (99-80%) HP:0000952
6 anemia 56 Very frequent (99-80%)

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

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

Genetic Tests for Thalassemia-Beta, Dominant Inclusion-Body

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

id Genetic test Affiliating Genes
1 Beta-Thalassemia, Dominant Inclusion Body Type 29

Anatomical Context for Thalassemia-Beta, Dominant Inclusion-Body

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

39
Bone, Bone Marrow

Publications for Thalassemia-Beta, Dominant Inclusion-Body

Variations for Thalassemia-Beta, Dominant Inclusion-Body

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic,protective rs334 GRCh37 Chromosome 11, 5248232: 5248232
2 HBB NM_000518.4(HBB): c.364G> T (p.Glu122Ter) single nucleotide variant Pathogenic rs33946267 GRCh37 Chromosome 11, 5246908: 5246908
3 HBB NM_000518.4(HBB): c.383A> C (p.Gln128Pro) single nucleotide variant Pathogenic rs33910569 GRCh37 Chromosome 11, 5246889: 5246889
4 HBB NM_000518.4(HBB): c.385_388delGCTGinsCCACA (p.Ala129Profs) indel Pathogenic rs63750860 GRCh37 Chromosome 11, 5246884: 5246887
5 HBB NM_000518.4(HBB): c.201delA (p.Val68Cysfs) deletion Likely pathogenic rs193922553 GRCh37 Chromosome 11, 5247921: 5247921

Expression for Thalassemia-Beta, Dominant Inclusion-Body

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

Pathways for Thalassemia-Beta, Dominant Inclusion-Body

GO Terms for Thalassemia-Beta, Dominant Inclusion-Body

Sources for Thalassemia-Beta, Dominant Inclusion-Body

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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