hemoglobin Lepore-beta-thalassemia syndrome

Summary

hemoglobin Lepore-beta-thalassemia syndrome (MONDO:0018022) is a disease. A subtype of beta-thalassemia and related diseases — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	hemoglobin Lepore-beta-thalassemia syndrome
Mondo ID	MONDO:0018022
Orphanet	330032
UMLS	C5679855
MedGen	1826060
GARD	0021505
Is cancer (heuristic)	no

Also known as: HbLepore-beta-thalassemia syndrome · Lepore-beta-thalassemia syndrome

Data availability: 3 cell lines.

Disease family

This is a subtype of beta-thalassemia and related diseases. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › hematologic disorder › anemia › beta-thalassemia and related diseases › hemoglobin Lepore-beta-thalassemia syndrome

Related subtypes (6): beta-thalassemia-X-linked thrombocytopenia syndrome, delta-beta-thalassemia, hemoglobin C-beta-thalassemia syndrome, hemoglobin E-beta-thalassemia syndrome, hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome, beta thalassemia

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.