Camurati-Engelmann disease type 1
MONDO:0700385Mondo
Findings
No curated finding names Camurati-Engelmann disease type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A Camurati-Engelmann disease caused by a variation in the TGFB1 gene.
Definition from the Mondo Disease Ontology (MONDO:0700385), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
26 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.
- Lower limb painHPOHP:0012514
- 4 of 4 reported patients
- Cortical thickening of long bone diaphysesHPOHP:0005791
- 21 of 22 reported patients
- ScoliosisHPOHP:0002650
- 12 of 14 reported patients
- Limb painHPOHP:0009763
- 63 of 92 reported patients
- Waddling gaitHPOHP:0002515
- 54 of 102 reported patients
- ProptosisHPOHP:0000520
- Adult onset
- 2 of 4 reported patients
- Easy fatigabilityHPO
Show the remaining 14
- Delayed pubertyHPOHP:0000823
- DiplopiaHPOHP:0000651
- Genu valgumHPOHP:0002857
- HeadacheHPOHP:0002315
- Increased bone mineral densityHPOHP:0011001
- Mandibular prognathiaHPOHP:0000303
- Adult onset
- Narrowing of medullary canalHPOHP:0032458
- Optic nerve compressionHPOHP:0007807
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.
- TGFB1HGNC:11766
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of