infantile systemic hyalinosis
Findings
No curated finding names infantile systemic hyalinosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.
Definition from the Mondo Disease Ontology (MONDO:0016331), read 2026-09-29. CC BY 4.0.
Features
37 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.
- Abnormal dental morphologyHPOHP:0006482
- Very frequent (80% to 99% of cases)
- Abnormality of the adrenal glandsHPOHP:0000834
- Very frequent (80% to 99% of cases)
- Abnormality of the gastrointestinal tractHPOHP:0011024
- Very frequent (80% to 99% of cases)
- Abnormality of the musculatureHPOHP:0003011
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the thymusHPOHP:0010515
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
Show the remaining 25
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- Hyperpigmentation of the skinHPOHP:0000953
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- ImmunodeficiencyHPOHP:0002721
- Very frequent (80% to 99% of cases)
- Increased susceptibility to fracturesHPOHP:0002659
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
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.
- ANTXR2HGNC:21732
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of