Elliptocytosis 1

Preferred Label : Elliptocytosis 1;

Symbol : EL1;

CISMeF acronym : EL1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Protein 4.1 of erythrocyte membrane, defect of; 4.1-minus trait; 4.1- trait; Elliptocytosis, rhesus-linked type;

Description : Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia. Usually inherited as an autosomal dominant, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton. Elliptocytosis-1 was found in the 1950s to be linked to the Rh blood group (see 111700) and is caused by a defect in protein 4.1.;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the erythrocyte membrane protein band 4.1 gene (EPB41, 130500.0001);

Prefixed ID : #611804;

Details

Origin ID

611804;

UMLS CUI

C2678497;

Broader ORDO disease(s)
- Hereditary elliptocytosis [ORDO Disease]
Currated CISMeF NLP mapping
- elliptocytosis 1 [MeSH concept]
- elliptocytosis 1 [MeSH Supplementary Concept]
DO Cross reference
- hereditary elliptocytosis [DO Concept]
Genes related to phenotype
- Erythrocyte membrane protein band 4.1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Elliptocytosis [HPO term]
- Hemolytic anemia [HPO term]
- Jaundice [HPO term]
- Pallor [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Hereditary elliptocytosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- elliptocytosis 1 [MeSH Supplementary Concept]
- elliptocytosis 1 [MeSH concept]
Validated automatic mappings to NTBT
- Hereditary elliptocytosis [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients