disabling pansclerotic morphea of childhood
MONDO:0957497Mondo
Findings
No curated finding names disabling pansclerotic morphea of childhood yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
9 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.
- MorpheaHPOHP:0012344
- 4 of 4 reported patients
- Oral ulcerHPOHP:0000155
- 4 of 4 reported patients
- Skin ulcerHPOHP:0200042
- 4 of 4 reported patients
- Decreased total lymphocyte countHPOHP:0001888
- 3 of 4 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 3 of 4 reported patients
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 3 of 4 reported patients
- Joint contractureHPOHP:0034392
- 3 of 4 reported patients
- Recurrent infectionsHPOHP:0002719
- 2 of 4 reported patients
- Squamous cell carcinoma of the skinHPOHP:0006739
- 1 of 4 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.
- STAT4HGNC:11365
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
Where it sits
- A kind of