MCID: HMG027
MIFTS: 12

Hemoglobin C-Beta-Thalassemia Syndrome

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Hemoglobin C-Beta-Thalassemia Syndrome

MalaCards integrated aliases for Hemoglobin C-Beta-Thalassemia Syndrome:

Name: Hemoglobin C-Beta-Thalassemia Syndrome 60
Hbc-Beta-Thalassemia Syndrome 60
C-Beta-Thalassemia 60

Characteristics:

Orphanet epidemiological data:

60
hemoglobin c-beta-thalassemia syndrome
Inheritance: Autosomal recessive;

Classifications:



External Ids:

ICD10 via Orphanet 35 D58.2
Orphanet 60 ORPHA231242
SNOMED-CT via HPO 70 16294009 234349007

Summaries for Hemoglobin C-Beta-Thalassemia Syndrome

MalaCards based summary : Hemoglobin C-Beta-Thalassemia Syndrome, also known as hbc-beta-thalassemia syndrome, is related to beta-thalassemia and thalassemia. An important gene associated with Hemoglobin C-Beta-Thalassemia Syndrome is HBB (Hemoglobin Subunit Beta). Related phenotypes are splenomegaly and microcytic anemia

Related Diseases for Hemoglobin C-Beta-Thalassemia Syndrome

Diseases in the Hemoglobin E-Beta-Thalassemia Syndrome family:

Hemoglobin C-Beta-Thalassemia Syndrome

Diseases related to Hemoglobin C-Beta-Thalassemia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 beta-thalassemia 10.5
2 thalassemia 10.5
3 tarsal-carpal coalition syndrome 10.0

Symptoms & Phenotypes for Hemoglobin C-Beta-Thalassemia Syndrome

Human phenotypes related to Hemoglobin C-Beta-Thalassemia Syndrome:

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

Drugs & Therapeutics for Hemoglobin C-Beta-Thalassemia Syndrome

Search Clinical Trials , NIH Clinical Center for Hemoglobin C-Beta-Thalassemia Syndrome

Genetic Tests for Hemoglobin C-Beta-Thalassemia Syndrome

Anatomical Context for Hemoglobin C-Beta-Thalassemia Syndrome

Publications for Hemoglobin C-Beta-Thalassemia Syndrome

Variations for Hemoglobin C-Beta-Thalassemia Syndrome

Expression for Hemoglobin C-Beta-Thalassemia Syndrome

Search GEO for disease gene expression data for Hemoglobin C-Beta-Thalassemia Syndrome.

Pathways for Hemoglobin C-Beta-Thalassemia Syndrome

GO Terms for Hemoglobin C-Beta-Thalassemia Syndrome

Sources for Hemoglobin C-Beta-Thalassemia Syndrome

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
Content
Loading form....