Hereditary Elliptocytosis (HE)

Alias:
Elliptocytosis, Hereditary
Congenital Elliptocytosis
Ovalocytosis
He
Hereditary Elliptocytosis with Infantile Poikilocytosis
He - [hereditary Elliptocytosis]
Elliptocytosis Hereditary
Hereditary Ovalocytosis
Congenital Ovalocytosis
Elliptocytosis Anaemia
Oval Erythrocytosis
Elliptocytosis
Hey
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hereditary Elliptocytosis, also known as elliptocytosis, hereditary, is related to amme complex and pyropoikilocytosis, hereditary. An important gene associated with Hereditary Elliptocytosis is EPB41 (Erythrocyte Membrane Protein Band 4.1), and among its related pathways/superpathways are Nervous system development and Vesicle-mediated transport. Affiliated tissues include spleen and skin, and related phenotypes are abnormal erythrocyte morphology and elliptocytosis
Related ID:
MESH:D004612
ICD11:679955609

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
All ages
1-5/10000
37
255
--

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
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top