ELLIPTOCYTOSIS 1

General Information (adopted from Orphanet):

Synonyms, Signs: ELLIPTOCYTOSIS, RHESUS-LINKED TYPE
PROTEIN 4.1 OF ERYTHROCYTE MEMBRANE, DEFECT OF
4.1- TRAIT
4.1-MINUS TRAIT
EL1
Number of Symptoms 3
OrphanetNr:
OMIM Id: 611804
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001878) Hemolytic anemia 3058231 IBIS 83 / 7739
2
(HPO:0004445) Elliptocytosis 3058231 IBIS 15 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Because of the existence of at least 2 forms of elliptocytosis, one linked to Rh and one unlinked (Morton, 1956), phenotypic differences correlating with the differences in linkage relationships were sought. Geerdink et al. (1967) found more hemolysis ...
Molecular genetics OMIM Conboy et al. (1986) showed by Southern blot analysis of genomic DNA from an Algerian family that in affected members the mutant protein 4.1 gene had a DNA rearrangement upstream from the initiation codon for translation (130500.0001). The ...