Hereditary Spherocytosis (HS)

Alias:
Congenital Spherocytic Hemolytic Anemia
Minkowski-Chauffard Disease
Spherocytosis, Type 1
Spherocytic Anemia
Anemia, Hereditary Spherocytic Hemolytic
Minkowski Chauffard Syndrome
Minkowski-Chauffard Syndrome
Spherocytosis, Hereditary
Congenital Spherocytosis
Spherocytosis Hereditary
Hs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hereditary Spherocytosis, also known as congenital spherocytic hemolytic anemia, is related to spherocytosis, type 1 and bilirubin metabolic disorder, and has symptoms including icterus An important gene associated with Hereditary Spherocytosis is SPTB (Spectrin Beta, Erythrocytic), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Interaction between L1 and Ankyrins. The drugs Papaya and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include spleen and skin, and related phenotypes are increased red cell osmotic fragility and muscle weakness
Related ID:
MESH:D013103

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
All ages
1-5/10000
48
310
6

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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