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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
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 231 | AKR1B1 | aldo-keto reductase family 1 member B | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1557 | CYP2C19 | cytochrome P450 family 2 subfamily C member 19 | |
| 1559 | CYP2C9 | cytochrome P450 family 2 subfamily C member 9 | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 6448 | SGSH | N-sulfoglucosamine sulfohydrolase | |
| 9469 | CHST3 | carbohydrate sulfotransferase 3 | |
| 100507436 | MICA | MHC class I polypeptide-related sequence A |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000944 | Abnormal metaphysis morphology |
| HP:0001083 | Ectopia lentis |
| HP:0001239 | Wrist flexion contracture |
| HP:0001249 | Intellectual disability |
| HP:0001265 | Hyporeflexia |
| HP:0001276 | Hypertonia |
| HP:0001288 | Gait disturbance |
| HP:0001324 | Muscle weakness |
| HP:0001385 | Hip dysplasia |
| HP:0001387 | Joint stiffness |
