ELLIPTOCYTOSIS 2

General Information (adopted from Orphanet):

Synonyms, Signs: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE
EL2
Number of Symptoms 1
OrphanetNr:
OMIM Id: 130600
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Heterogeneous
[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

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In some families with HE, spectrin is abnormally heat-sensitive (Lux and Wolfe, 1980). Coetzer and Zail (1981) studied spectrin in 4 cases of hereditary elliptocytosis and found an abnormality of tryptic digestion in 1. This patient was previously ...
Molecular genetics OMIM By in situ hybridization, the SPTA1 gene was mapped to 1q22-1q25 (Huebner et al., 1985) in the region proposed by Keats (1979) for a non-Rh-linked form of elliptocytosis. In patients with elliptocytosis, Marchesi et al. (1987) identified heterozygous ...