Schimke immuno-osseous dysplasia
Findings
No curated finding names Schimke immuno-osseous dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.
Definition from the Mondo Disease Ontology (MONDO:0009458), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
88 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.
- Bilateral cryptorchidismHPOHP:0008689
- 1 of 1 reported patient
- Bulbous noseHPOHP:0000414
- 2 of 2 reported patients
- Cerebral ischemiaHPOHP:0002637
- 3 of 3 reported patients · Young adult onset
- Frequent (30% to 79% of cases)
- Decreased total lymphocyte countHPOHP:0001888
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Disproportionate short-trunk short statureHPOHP:0003521
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- FeverHPOHP:0001945
- 1 of 1 reported patient
Show the remaining 76
- MaculeHPOHP:0012733
- 1 of 1 reported patient
- MicrodontiaHPOHP:0000691
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Nephrotic syndromeHPOHP:0000100
- 1 of 1 reported patient
- Protuberant abdomenHPOHP:0001538
- 3 of 3 reported patients
- Pulmonary arterial hypertensionHPOHP:0002092
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Short neckHPOHP:0000470
- 1 of 1 reported patient
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.
- SMARCAL1HGNC:11102
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2023
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: Schimke immuno-osseous dysplasia
- Also called
- Schimke immunoosseous dysplasiaSchimke syndromespondyloepiphyseal dysplasia - nephrotic syndromespondyloepiphyseal dysplasia-nephrotic syndrome