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Schwartz-Jampel syndrome 1
Summary
- Synonym
-
- Aberfeld syndrome
- Burton skeletal dysplasia
- Burton syndrome
- Catel-Hempel syndrome
- Catel-Hempel type dysostosis enchondralis metaepiphysaria
- Schwartz-Jampel syndrome type 1
- Schwartz-Jampel-Aberfeld syndrome
- myotonic chondrodystrophy
- myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
- osteochondromuscular dystrophy
- Definition
- A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0090005
- Mondo Disease Ontology
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P98160 | Basement membrane-specific heparan sulfate proteoglycan core protein |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q05793 | Basement membrane-specific heparan sulfate proteoglycan core protein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002047 | Malignant hyperthermia |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0002093 | Respiratory insufficiency |
| HP:0002104 | Apnea |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002230 | Generalized hirsutism |
| HP:0002486 | Myotonia |
| HP:0002645 | Wormian bones |
| HP:0002650 | Scoliosis |
| HP:0002652 | Skeletal dysplasia |
