Hematology · Hematology / Bone marrow failure
Shwachman–Diamond syndrome
also: SDS; Shwachman–Bodian–Diamond syndrome
Exocrine pancreatic insufficiency, neutropenia and skeletal abnormalities.
- Specialty
- Hematology
- Subspecialty
- Hematology / Bone marrow failure
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- DNAJC21, EFL1, SBDS, SRP54
- Alternative names & eponyms
- SDS; Shwachman–Bodian–Diamond syndrome
Etiology & mechanism
Impaired ribosome maturation from SBDS deficiency.
Gene(s) involved (4)
Symptoms & signs (10)
In plain terms, someone with Shwachman–Diamond syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Atypical hemolytic uremic syndrome
anemia, thrombocytopenia
2 shared
Bare lymphocyte syndrome
failure to thrive, recurrent infections
2 shared
Barth syndrome
neutropenia, recurrent infections
2 shared
Bloom syndrome
leukemia, short stature
2 shared
Felty syndrome
neutropenia, recurrent infections
2 shared
Heiner syndrome
anemia, failure to thrive
2 shared
Hyper-IgM syndrome
neutropenia, recurrent infections
2 shared
Immunodeficiency with hyper IgM syndrome
neutropenia, recurrent infections
2 shared
Myelodysplastic syndromes
anemia, leukemia
2 shared
Netherton syndrome
failure to thrive, recurrent infections
Shares genes with
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