SPHEROCYTOSIS, TYPE 5

General Information (adopted from Orphanet):

Synonyms, Signs: SPHEROCYTOSIS, HEREDITARY, 5
HS5
SPH5
Number of Symptoms 3
OrphanetNr:
OMIM Id: 612690
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:0004444) Spherocytosis 6 / 7739
2
(HPO:0001878) Hemolytic anemia 83 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hereditary spherocytosis type 5, which has been observed predominantly in Japanese individuals, is an autosomal recessive disorder that results in a hemolytic anemia associated with abnormally shaped, osmotically fragile red blood cells (Bouhassira et al., 1992).

...

Molecular genetics OMIM In 4 unrelated Japanese patients with hereditary spherocytosis, Bouhassira et al. (1991, 1992) identified homozygosity for a mutation in the EPB42 gene (177070.0001).

In a Portuguese woman with recessively transmitted hemolytic anemia, Hayette et al. (1995) ...