Shwachman-Diamond Syndrome malady
Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Bone diseases, Fetal diseases, Blood diseases, Immune diseases, Endocrine diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 34LifeMap Discovery®, 36MedGen, 38MeSH, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Shwachman-Diamond Syndrome:
Orphanet epidemiological data:53
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
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Gastrointestinal diseases, Bone diseases, Blood diseases, Immune diseases, Endocrine diseases
ICD10: 30 29
Rare gastroenterological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Rare haematological diseases
Rare immunological diseases
NIH Rare Diseases:47 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: 6/23/2015
MalaCards based summary: Shwachman-Diamond Syndrome, also known as shwachman syndrome, is related to hemoglobin sd and exocrine pancreatic insufficiency, and has symptoms including exocrine pancreatic insufficiency, eczema and thrombocytopenia. An important gene associated with Shwachman-Diamond Syndrome is SBDS (SBDS Ribosome Assembly Guanine Nucleotide Exchange Factor), and among its related pathways are HIF-1-alpha transcription factor network and Ribosome biogenesis in eukaryotes. Affiliated tissues include bone, bone marrow and pancreas, and related mouse phenotypes are liver/biliary system and embryo.
Disease Ontology:11 A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.
Genetics Home Reference:25 Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system.
OMIM:51 Shwachman-Diamond syndrome is characterized primarily by exocrine pancreatic insufficiency, hematologic abnormalities,... (260400) more...
UniProtKB/Swiss-Prot:69 Shwachman-Diamond syndrome: Autosomal recessive disorder characterized by pancreatic exocrine insufficiency, hematologic dysfunction, and skeletal abnormalities.
Wikipedia:70 Shwachman–Diamond syndrome (SDS) or Shwachman–Bodian–Diamond syndrome is a rare congenital... more...
GeneReviews for NBK1756
Human phenotypes related to Shwachman-Diamond Syndrome:63 53 (show all 56)
UMLS symptoms related to Shwachman-Diamond Syndrome:hepatomegaly
Drugs for Shwachman-Diamond Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 65)
Interventional clinical trials:(show all 12)
Search NIH Clinical Center for Shwachman-Diamond Syndrome
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Shwachman-Diamond Syndrome cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Shwachman-Diamond Syndrome:
Embryonic/Adult Cultured Cells Related to Shwachman-Diamond Syndrome:
MalaCards organs/tissues related to Shwachman-Diamond Syndrome:35
Bone, Bone marrow, Pancreas, Myeloid, Liver, T cells, Neutrophil
MGI Mouse Phenotypes related to Shwachman-Diamond Syndrome:40
Articles related to Shwachman-Diamond Syndrome:(show top 50) (show all 201)
UniProtKB/Swiss-Prot genetic disease variations for Shwachman-Diamond Syndrome:69
Clinvar genetic disease variations for Shwachman-Diamond Syndrome:5 (show all 12)
Copy number variations for Shwachman-Diamond Syndrome from CNVD:6
Search GEO for disease gene expression data for Shwachman-Diamond Syndrome.
Biological processes related to Shwachman-Diamond Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Shwachman-Diamond Syndrome according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet