Hereditary spherocytosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Minkowski-Chauffard disease |
| Number of Symptoms | 8 |
| OrphanetNr: | 822 |
| OMIM Id: |
182900
270970 612653 612690 |
| ICD-10: |
D58.0 |
| UMLs: |
C0037889 C0221409 |
| MeSH: |
C536356 D013103 |
| MedDRA: |
10019904 |
| Snomed: |
55995005 |
Prevalence, inheritance and age of onset:
| Prevalence: | 20 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare constitutional hemolytic anemia due to a red cell membrane anomaly
-Rare genetic disease -Rare hematologic disease |
Symptom Information:
|
|
(HPO:0001081) | Cholelithiasis | 36 / 7739 | ||||
|
|
(HPO:0001744) | Splenomegaly | 337 / 7739 | ||||
|
|
(HPO:0000952) | Jaundice | 105 / 7739 | ||||
|
|
(HPO:0001878) | Hemolytic anemia | 83 / 7739 | ||||
|
|
(HPO:0001923) | Reticulocytosis | 28 / 7739 | ||||
|
|
(HPO:0004444) | Spherocytosis | 6 / 7739 | ||||
|
|
(HPO:0002904) | Hyperbilirubinemia | 32 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|