loading...| Preferred Name |
Shwachman-Diamond syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_811 |
| alternative_term |
SDS Pancreatic insufficiency and bone marrow dysfunction Shwachman-Bodian-Diamond syndrome Shwachman syndrome |
| definition |
Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 |
| has_age_of_onset |
Antenatal Childhood Neonatal Infancy |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
ICD-10:D61.0 UMLS:C0272170 OMIM:617941 OMIM:260400 MedDRA:10067940 ICD-11:3A70.0 |
| label |
Shwachman-Diamond syndrome |
| notation |
ORPHA:811 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_183681 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_68383 http://www.orpha.net/ORDO/Orphanet_165661 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_101937 |
| prefixIRI |
ORDO:Orphanet_811 |
| prefLabel |
Shwachman-Diamond syndrome |
| present_in |
Puerto rico AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Canada AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 0.28 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 0.59 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_range : 1-9 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_183681 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_68383 http://www.orpha.net/ORDO/Orphanet_165661 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_101937 |
| subClassOf |