Shwachman-Diamond syndrome 2
MONDO:0044205Mondo
Findings
No curated finding names Shwachman-Diamond syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Infantile onset · Death in childhood · Childhood onset
HPO, annotations 2026-09-02
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anterior rib cuppingHPOHP:0000907
- 4 of 4 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 5 of 5 reported patients
- Exocrine pancreatic insufficiencyHPOHP:0001738
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Hyperechogenic pancreasHPOHP:0006276
- 4 of 4 reported patients
- Metaphyseal irregularityHPOHP:0003025
- 4 of 4 reported patients
- Prolonged partial thromboplastin timeHPOHP:0003645
- 4 of 4 reported patients
- Prolonged prothrombin timeHPOHP:0008151
- 4 of 4 reported patients
- SteatorrheaHPOHP:0002570
- 4 of 4 reported patients
- ThrombocytopeniaHPOHP:0001873
- 4 of 4 reported patients
- DiarrheaHPOHP:0002014
- 5 of 6 reported patients
- Failure to thriveHPOHP:0001508
- 5 of 6 reported patients
Show the remaining 12
- HypotoniaHPOHP:0001252
- 5 of 6 reported patients
- Normocytic anemiaHPOHP:0001897
- 4 of 5 reported patients
- High palateHPOHP:0000218
- 4 of 6 reported patients
- Low-set earsHPOHP:0000369
- 4 of 6 reported patients
- MicrocephalyHPOHP:0000252
- 4 of 6 reported patients
- Genu varumHPOHP:0002970
- 2 of 6 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EFL1HGNC:25789
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
1 name
Resolves to: Shwachman-Diamond syndrome 2
- Also called
- EFL1-related Shwachman-Diamond syndrome