MCID: THL019
MIFTS: 6

Thalassemia, Beta+, Silent Allele

Categories: Blood diseases

Aliases & Classifications for Thalassemia, Beta+, Silent Allele

MalaCards integrated aliases for Thalassemia, Beta+, Silent Allele:

Name: Thalassemia, Beta+, Silent Allele 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
thalassemia, beta+, silent allele:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 187550
MedGen 43 C1861232
SNOMED-CT via HPO 70 263681008

Summaries for Thalassemia, Beta+, Silent Allele

MalaCards based summary : Thalassemia, Beta+, Silent Allele Related phenotype is reduced beta/alpha synthesis ratio.

Description from OMIM: 187550

Related Diseases for Thalassemia, Beta+, Silent Allele

Symptoms & Phenotypes for Thalassemia, Beta+, Silent Allele

Human phenotypes related to Thalassemia, Beta+, Silent Allele:

33
# Description HPO Frequency HPO Source Accession
1 reduced beta/alpha synthesis ratio 33 HP:0011906

Symptoms via clinical synopsis from OMIM:

58
Heme:
beta-thalassemia silent carrier allele

Lab:
decreased beta/alpha globin synthesis ratio in peripheral erythroid cells
rbc features of heterozygous beta-thalassemia lacking

Clinical features from OMIM:

187550

Drugs & Therapeutics for Thalassemia, Beta+, Silent Allele

Search Clinical Trials , NIH Clinical Center for Thalassemia, Beta+, Silent Allele

Genetic Tests for Thalassemia, Beta+, Silent Allele

Anatomical Context for Thalassemia, Beta+, Silent Allele

Publications for Thalassemia, Beta+, Silent Allele

Variations for Thalassemia, Beta+, Silent Allele

Expression for Thalassemia, Beta+, Silent Allele

Search GEO for disease gene expression data for Thalassemia, Beta+, Silent Allele.

Pathways for Thalassemia, Beta+, Silent Allele

GO Terms for Thalassemia, Beta+, Silent Allele

Sources for Thalassemia, Beta+, Silent Allele

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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