SPHEROCYTOSIS, TYPE 3

General Information (adopted from Orphanet):

Synonyms, Signs: SPHEROCYTOSIS, HEREDITARY, 3
HS3
SPH3
Number of Symptoms 6
OrphanetNr:
OMIM Id: 270970
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive 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 83 / 7739
2
(HPO:0004444) Spherocytosis 6 / 7739
3
(OMIM) Red cell membranes deficient in spectrin with band 1 reduced more than band 2 1 / 7739
4
(OMIM) Normal spectrin membrane binding and binding sites (ankyrin) 1 / 7739
5
(OMIM) Severe hemolytic anemia 1 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Agre et al. (1982) reported 2 daughters, of related but normal parents, who had nearly fatal hemolytic anemia requiring early splenectomy. Both improved strikingly thereafter but spherocytosis persisted. Red cell membranes were at least 50% deficient in spectrin, ...
Molecular genetics OMIM In the kindred with autosomal recessive spherocytosis reported by Agre et al. (1986), Marchesi et al. (1989, 1989) identified a missense mutation in the alpha-II domain of the SPTA gene (182860.0005).

In a patient with severe ...