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Hemoglobin Lepore - beta-thalassemia
2 associated genes
44 connected diseases
No signs/symptoms info
Disease Type of connection
Delta-beta-thalassemia
Autosomal dominant methemoglobinemia
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Beta-thalassemia intermedia
Beta-thalassemia major
Dominant beta-thalassemia
Heinz body anemia
Hemoglobin C - beta-thalassemia
Hemoglobin C disease
Hemoglobin D disease
Hemoglobin E - beta-thalassemia
Hemoglobin E disease
Sickle cell - beta-thalassemia disease
Sickle cell - hemoglobin C disease
Sickle cell - hemoglobin D disease
Sickle cell - hemoglobin E disease
Sickle cell anemia
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Hb Bart's hydrops fetalis
Hemoglobin H disease
Autosomal agammaglobulinemia
Cowden syndrome
Huntington disease
Juvenile Huntington disease
Proteus syndrome
Richieri Costa-Pereira syndrome
Thrombocytopenia - absent radius
X-linked Emery-Dreifuss muscular dystrophy
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Hemoglobinopathy Toms River
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Charcot-Marie-Tooth disease type 2H
Charcot-Marie-Tooth disease type 4A
X-linked intellectual deficit with marfanoid habitus
X-linked non-syndromic intellectual deficit
Synonym(s):
- HbLepore - beta-thalassemia
- Lepore - beta-thalassemia
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
HBB P68871141900
HBD P02042142000
No signs/symptoms info available.