Shwachman-diamond syndrome 1

Preferred Label : Shwachman-diamond syndrome 1;

Symbol : SDS1;

CISMeF acronym : SDS; SDS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Shwachman-bodian syndrome; SDS; Shwachman-diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Lipomatosis of pancreas, congenital;

Description : Shwachman-Diamond syndrome is characterized primarily by exocrine pancreatic insufficiency, hematologic abnormalities, including increased risk of malignant transformation, and skeletal abnormalities. For a review of Shwachman-Diamond syndrome, see Dror and Freedman (2002).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SBDS gene (SBDS, 607444.0001);

Neoplasia : Myelodysplasia; Acute myelogenous leukemia;

Laboratory abnormalities : Abnormal liver function tests; Abnormal fecal fat; Decreased serum trypsinogen;

Prefixed ID : #260400;

Détails

Origin ID

260400;

UMLS CUI

C4692625;

Automatic exact mappings (from CISMeF team)
- Instantaneous death [ICD-11 Subcategory]
- RANGAP1 wt Allele [NCIt concept]
- SBDS ribosome maturation factor [ORDO Gene]
- SBDS wt Allele [NCIt concept]
- Sheehan Disability Scale Questionnaire [NCIt concept]
- Sodium Lauryl Sulfate [NCIt concept]
- South Dakota [NCIt concept]
- Standard Deviation [NCIt concept]
- Sudan [NCIt concept]
- Syndromic diarrhea [ORDO Disease]
Currated CISMeF NLP mapping
- Shwachman Bodian Diamond syndrome [Disease (Nov.)]
- Shwachman syndrome (disorder) [SNOMED CT concept]
- Shwachman-Diamond Syndrome [MeSH Descriptor]
- Shwachman-Diamond Syndrome [MeSH concept]
- Shwachman-Diamond Syndrome [NCIt concept]
- Shwachman-Diamond syndrome [PASCAL descriptor]
- Shwachman-Diamond syndrome [DO Concept]
- Shwachman-Diamond syndrome [ICD-11 More detail]
- Shwachman-Diamond syndrome [MedDRA Preferred Term]
- Shwachman-Diamond syndrome [ORDO Disease]
- shwachman syndrome [SNOMED Notion]
DO Cross reference
- Shwachman-Diamond syndrome [DO Concept]
False automatic mappings
- Symptom Distress Scale [NCIt concept]
Genes related to phenotype
- Sbds ribosome maturation factor [OMIM gene]
HPO term(s)
- Abnormal liver function tests [HPO term]
- Acute myeloid leukemia [HPO term]
- Anemia [HPO term]
- Anterior rib cupping [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coxa vara [HPO term]
- Delayed skeletal maturation [HPO term]
- Elevated hepatic transaminase [HPO term]
- Enlargement of the costochondral junction [HPO term]
- Exocrine pancreatic insufficiency [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Intellectual disability, mild [HPO term]
- Irregular ossification at anterior rib ends [HPO term]
- Metaphyseal chondrodysplasia [HPO term]
- Metaphyseal chondrodysplasia of long bones [HPO term]
- Metaphyseal sclerosis [HPO term]
- Metaphyseal widening [HPO term]
- Myelodysplasia [HPO term]
- Myocardial necrosis [HPO term]
- Narrow chest [HPO term]
- Narrow greater sciatic notch [HPO term]
- Narrow sacroiliac notch [HPO term]
- Neonatal respiratory distress [HPO term]
- Nephrocalcinosis [HPO term]
- Neutropenia [HPO term]
- Ovoid vertebral bodies [HPO term]
- Pancytopenia [HPO term]
- Persistence of hemoglobin F [HPO term]
- Proximal femoral epiphysiolysis [HPO term]
- Proximal femoral metaphyseal irregularity [HPO term]
- Recurrent infections [HPO term]
- Respiratory distress [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Specific learning disability [HPO term]
- Steatorrhea [HPO term]
- Susceptibility to infection [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Shwachman-Diamond syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Shwachman Bodian Diamond syndrome [Disease (Nov.)]
- Shwachman syndrome (disorder) [SNOMED CT concept]
- Shwachman-Diamond Syndrome [NCIt concept]
- Shwachman-Diamond syndrome [MedDRA Preferred Term]
- Shwachman-Diamond syndrome [ORDO Disease]
- Shwachman-Diamond syndrome [DO Concept]
- Shwachman-Diamond syndrome [PASCAL descriptor]
- shwachman syndrome [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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