SPHEROCYTOSIS, TYPE 4

General Information (adopted from Orphanet):

Synonyms, Signs: SPHEROCYTOSIS, HEREDITARY, 4
HS4
SPH4
Number of Symptoms 5
OrphanetNr:
OMIM Id: 612653
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:0005502) Increased red cell osmotic fragility 5 / 7739
2
(HPO:0001923) Reticulocytosis 28 / 7739
3
(HPO:0004444) Spherocytosis 6 / 7739
4
(HPO:0001878) Hemolytic anemia 83 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Prchal et al. (1991) studied a family with autosomal dominant hereditary spherocytosis associated with deficiency of erythrocyte band 3 protein.

Del Giudice et al. (1992) reported a family in which a dominantly inherited form of hereditary ...

Molecular genetics OMIM In a 28-year-old female with congenital spherocytic hemolytic anemia, Jarolim et al. (1991) identified a missense mutation in the SLC4A1 gene (109270.0003).

Jarolim et al. (1994) described duplication of 10 nucleotides in the SLC4A1 gene (109270.0005) ...