loading...| Preferred Name |
Hereditary elliptocytosis |
|
| Synonyms |
HE |
|
| Definitions |
Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_288 |
|
| alternative_term |
HE |
|
| definition |
Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=288 |
|
| has_age_of_onset |
All ages |
|
| has_inheritance |
Autosomal recessive Autosomal dominant |
|
| hasDbXref |
MeSH:D004612 OMIM:611804 ICD-10:D58.1 MedDRA:10014490 UMLS:C0013902 OMIM:235370 OMIM:617948 ICD-11:3A10.2 OMIM:130600 |
|
| label |
Hereditary elliptocytosis |
|
| notation |
ORPHA:288 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_288 |
|
| prefLabel |
Hereditary elliptocytosis |
|
| present_in |
Worldwide AND has_point_prevalence_range : 1-5 / 10 000 |
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| treeView | ||
| subClassOf |