SPHEROCYTOSIS, TYPE 1

General Information (adopted from Orphanet):

Synonyms, Signs: SPHEROCYTOSIS, HEREDITARY, 1
SPH
HS
SPH1
HS1
Number of Symptoms 10
OrphanetNr:
OMIM Id: 182900
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:0001744) Splenomegaly 337 / 7739
2
(HPO:0001081) Cholelithiasis 36 / 7739
3
(HPO:0000952) Jaundice 105 / 7739
4
(HPO:0004444) Spherocytosis 6 / 7739
5
(HPO:0001878) Hemolytic anemia 83 / 7739
6
(HPO:0001923) Reticulocytosis 28 / 7739
7
(HPO:0002904) Hyperbilirubinemia 32 / 7739
8
(OMIM) Negative direct antiglobulin (Coombs) test 1 / 7739
9
(OMIM) Elevated MCHC 1 / 7739
10
(OMIM) Increased osmotic fragility 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hereditary spherocytosis refers to a group of heterogeneous disorders that are characterized by the presence of spherical-shaped erythrocytes (spherocytes) on the peripheral blood smear. The disorders are characterized clinically by anemia, jaundice, and splenomegaly, with variable severity. Common ...
Clinical Description OMIM MacKinney et al. (1962) and Morton et al. (1962) studied 26 families. They concluded that after the initial case in a family has been identified, 4 tests suffice for the diagnosis in other family members: smear, reticulocyte count, ...
Molecular genetics OMIM Davies and Lux (1989) stated that dosage analysis in 2 hereditary spherocytosis patients with chromosome 8p11 deletions showed them to be hemizygous for the ankyrin gene. A corresponding reduction of approximately 50% in the amount of ankyrin protein ...