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
Related Genes
Displaying all 9 entries
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
Displaying 1 entry
Gene ID Gene Symbol Description Source
45320 trol terribly reduced optic lobes
The Human Phenotype Ontology
Displaying entries 11 - 20 of 136 in total
HPO ID HPO Term
HP:0000293 Full cheeks
HP:0000294 Low anterior hairline
HP:0000298 Mask-like facies
HP:0000316 Hypertelorism
HP:0000343 Long philtrum
HP:0000347 Micrognathia
HP:0000368 Low-set, posteriorly rotated ears
HP:0000396 Overfolded helix
HP:0000426 Prominent nasal bridge
HP:0000470 Short neck
Displaying 1 entry
Gene ID Gene Symbol Description
3339 HSPG2 heparan sulfate proteoglycan 2

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Last updated: August 19, 2024