B-THALIB
MCID: BTT013
MIFTS: 23

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

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

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

MalaCards integrated aliases for Beta-Thalassemia, Dominant Inclusion Body Type:

Name: Beta-Thalassemia, Dominant Inclusion Body Type 58 30 6
Thalassemia-Beta, Dominant Inclusion-Body 58 13
Dyserythropoietic Anemia, Congenital, Irish or Weatherall Type 58
Dyserythropoietic Anemia Congenital Irish or Weatherall Type 76
Beta-Thalassemia, Dominant, Inclusion Body Type 76
Thalassemia, Beta, Dominant Inclusion Body Type 41
Beta Thalassemia Dominant Inclusion Body Type 76
Inclusion Body Beta-Thalassemia 60
Beta-Plus-Thalassemia, Dominant 6
Dominant Beta-Thalassemia 60
Beta-Thalassemia Dominant 6
B-Thalib 76

Characteristics:

Orphanet epidemiological data:

60
dominant beta-thalassemia
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:



External Ids:

OMIM 58 603902
ICD10 via Orphanet 35 D56.1
UMLS via Orphanet 75 C1858990
Orphanet 60 ORPHA231226
MedGen 43 C1858990

Summaries for Beta-Thalassemia, Dominant Inclusion Body Type

UniProtKB/Swiss-Prot : 76 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 : Beta-Thalassemia, Dominant Inclusion Body Type, also known as thalassemia-beta, dominant inclusion-body, is related to beta-thalassemia and thalassemia. An important gene associated with Beta-Thalassemia, Dominant Inclusion Body Type is HBB (Hemoglobin Subunit Beta). Affiliated tissues include bone and bone marrow, and related phenotypes are splenomegaly and pallor

Description from OMIM: 603902

Related Diseases for Beta-Thalassemia, Dominant Inclusion Body Type

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

# Related Disease Score Top Affiliating Genes
1 beta-thalassemia 10.4
2 thalassemia 10.4
3 bowenoid papulosis 10.1

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

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

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001744
2 pallor 60 33 hallmark (90%) Very frequent (99-80%) HP:0000980
3 microcytic anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001935
4 abnormal hemoglobin 60 33 hallmark (90%) Very frequent (99-80%) HP:0011902
5 jaundice 60 33 hallmark (90%) Very frequent (99-80%) HP:0000952
6 anemia 60 Very frequent (99-80%)

Clinical features from OMIM:

603902

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

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

Genetic Tests for Beta-Thalassemia, Dominant Inclusion Body Type

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

# Genetic test Affiliating Genes
1 Beta-Thalassemia, Dominant Inclusion Body Type 30 HBB

Anatomical Context for Beta-Thalassemia, Dominant Inclusion Body Type

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

42
Bone, Bone Marrow

Publications for Beta-Thalassemia, Dominant Inclusion Body Type

Articles related to Beta-Thalassemia, Dominant Inclusion Body Type:

# Title Authors Year
1
A deletion of 11 bp (CD 131-134) in exon 3 of the beta-globin gene produces the phenotype of inclusion body beta-thalassemia. ( 15977037 )
2005
2
Molecular basis for dominantly inherited inclusion body beta- thalassemia. ( 1971109 )
1990

Variations for Beta-Thalassemia, Dominant Inclusion Body Type

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

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.208G> A (p.Gly70Ser) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33947415 GRCh37 Chromosome 11, 5247914: 5247914
2 HBB NM_000518.4(HBB): c.208G> A (p.Gly70Ser) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33947415 GRCh38 Chromosome 11, 5226684: 5226684
3 HBB NM_000518.5(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh37 Chromosome 11, 5248232: 5248232
4 HBB NM_000518.5(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh38 Chromosome 11, 5227002: 5227002
5 HBB NM_000518.5(HBB): c.364G> T (p.Glu122Ter) single nucleotide variant Pathogenic rs33946267 GRCh37 Chromosome 11, 5246908: 5246908
6 HBB NM_000518.5(HBB): c.364G> T (p.Glu122Ter) single nucleotide variant Pathogenic rs33946267 GRCh38 Chromosome 11, 5225678: 5225678
7 HBB NM_000518.5(HBB): c.383A> C (p.Gln128Pro) single nucleotide variant Pathogenic rs33910569 GRCh37 Chromosome 11, 5246889: 5246889
8 HBB NM_000518.5(HBB): c.383A> C (p.Gln128Pro) single nucleotide variant Pathogenic rs33910569 GRCh38 Chromosome 11, 5225659: 5225659
9 HBB NM_000518.5(HBB): c.93_94insCGG (p.Arg31_Leu32insArg) insertion Pathogenic rs35348864 GRCh37 Chromosome 11, 5248028: 5248029
10 HBB NM_000518.5(HBB): c.93_94insCGG (p.Arg31_Leu32insArg) insertion Pathogenic rs35348864 GRCh38 Chromosome 11, 5226798: 5226799
11 HBB HBB, 1-BP DEL deletion Pathogenic
12 HBB NM_000518.5(HBB): c.385_388delGCTGinsCCACA (p.Ala129Profs) indel Pathogenic rs63750860 GRCh37 Chromosome 11, 5246884: 5246887
13 HBB NM_000518.5(HBB): c.385_388delGCTGinsCCACA (p.Ala129Profs) indel Pathogenic rs63750860 GRCh38 Chromosome 11, 5225654: 5225657
14 HBB NM_000518.4(HBB): c.201delA (p.Val68Cysfs) deletion Likely pathogenic rs193922553 GRCh37 Chromosome 11, 5247921: 5247921
15 HBB NM_000518.4(HBB): c.201delA (p.Val68Cysfs) deletion Likely pathogenic rs193922553 GRCh38 Chromosome 11, 5226691: 5226691

Expression for Beta-Thalassemia, Dominant Inclusion Body Type

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

Pathways for Beta-Thalassemia, Dominant Inclusion Body Type

GO Terms for Beta-Thalassemia, Dominant Inclusion Body Type

Sources for Beta-Thalassemia, Dominant Inclusion Body Type

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
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33 HPO
34 ICD10
35 ICD10 via Orphanet
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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