Shwachman-Bodian-Diamond Syndrome malady
Genetic diseases, Rare diseases, Gastrointestinal diseases, Bone diseases, Fetal diseases, Blood diseases, Cancer diseases, Immune diseases, Endocrine diseases categories
41NIH Rare Diseases, 21Genetics Home Reference, 45OMIM, 63Wikipedia, 19GeneReviews, 31MalaCards
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NIH Rare Diseases:41 Shwachman-diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. about 90% of cases of shwachman-diamond syndrome are caused by mutations in the sbds gene. in cases where no sbds mutation is found, the cause of this disorder is unknown. this condition is inherited in an autosomal recessive manner. treatment may include enzyme and vitamin supplementation, blood and/or platelet transfusion, administration of granulocyte-colony stimulating factor (g-csf), and/or hematopoietic stem cell transplantation. last updated: 8/2/2012
MalaCards based summary: Shwachman-Bodian-Diamond Syndrome, also known as shwachman-diamond syndrome, is related to leukemia and neutropenia, and has symptoms including exocrine pancreatic insufficiency, abnormality of neutrophils and abnormality of the metaphyses. An important gene associated with Shwachman-Bodian-Diamond Syndrome is SBDS (Shwachman-Bodian-Diamond syndrome). Affiliated tissues include bone, bone marrow and pancreas.
Genetics Home Reference:21 Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system.
OMIM:45 Shwachman-Diamond syndrome is characterized primarily by exocrine pancreatic insufficiency, hematologic abnormalities,... (260400) more...
Wikipedia:63 Shwachman?Diamond syndrome (SDS) or Shwachman?Bodian?Diamond syndrome is a rare congenital disorder... more...
GeneReviews summary for sds
Shwachman-Bodian-Diamond Syndrome, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases, Cancer diseases
Anatomical: Gastrointestinal diseases, Bone diseases, Blood diseases, Immune diseases, Endocrine diseases
Rare gastroenterological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Rare haematological diseases
Rare immunological diseases
Characteristics (Orphanet epidemiological data):47
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Italy),1-9/1000000 (United Kingdom),1-9/1000000 (Puerto rico),1-9/100000 (Canada),1-9/1000000 (Europe),1-9/1000000 (Worldwide); Age of onset: Antenatal,Childhood,Infancy,Neonatal; Age of death: adult,any age,early childhood,infantile,young Adult
Symptoms by clinical synopsis from OMIM:260400
Clinical features from OMIM:260400
Symptoms:47 (show all 28)
HPO human phenotypes related to Shwachman-Bodian-Diamond Syndrome:(show all 54)
Drug clinical trials:
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Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Shwachman-Bodian-Diamond Syndrome cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Shwachman-Bodian-Diamond Syndrome:
Embryonic/Adult Cultured Cells Related to Shwachman-Bodian-Diamond Syndrome:
MalaCards organs/tissues related to Shwachman-Bodian-Diamond Syndrome:31
Bone, Bone marrow, Pancreas, Neutrophil, Liver, Myeloid
Articles related to Shwachman-Bodian-Diamond Syndrome:(show all 11)
UniProtKB/Swiss-Prot genetic disease variations for Shwachman-Bodian-Diamond Syndrome:62
Clinvar genetic disease variations for Shwachman-Bodian-Diamond Syndrome:6 (show all 11)
Search GEO for disease gene expression data for Shwachman-Bodian-Diamond Syndrome.
Cellular components related to Shwachman-Bodian-Diamond Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Shwachman-Bodian-Diamond Syndrome according to GeneCards Suite gene sharing:
26ICD10 via Orphanet
34MESH via Orphanet
46OMIM via Orphanet
56SNOMED-CT via Orphanet
61UMLS via Orphanet