RED CELL PERMEABILITY DEFECT

General Information (adopted from Orphanet):

Synonyms, Signs: ELLIPTOCYTOSIS WITH TRANSVERSE SLITLIKE CHANGES
Number of Symptoms 5
OrphanetNr:
OMIM Id: 179650
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:0004445) Elliptocytosis 15 / 7739
2
 (OMIM) Normal red cell survival 1 / 7739
3
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
 (OMIM) No hemolysis 2 / 7739
5
 (OMIM) Transverse slitlike areas of decreased density in red cells 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 3 generations of a Filipino family, Honig et al. (1971) demonstrated elliptocytosis with transverse slitlike areas of decreased density in the red cells. This was accompanied by no hemolysis in vivo and red cell survival was normal. ...