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 59
Hbc-Beta-Thalassemia Syndrome 59
C-Beta-Thalassemia 59

Characteristics:

Orphanet epidemiological data:

59
hemoglobin c-beta-thalassemia syndrome
Inheritance: Autosomal recessive;

Classifications:



External Ids:

Orphanet 59 ORPHA231242
ICD10 via Orphanet 34 D58.2
SNOMED-CT via HPO 69 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 10.3
2 thalassemia 10.3

Symptoms & Phenotypes for Hemoglobin C-Beta-Thalassemia Syndrome

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

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
2 microcytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001935
3 abnormal hemoglobin 59 32 hallmark (90%) Very frequent (99-80%) HP:0011902
4 anemia 59 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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