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 1 - 10 of 136 in total
HPO ID HPO Term
HP:0000023 Inguinal hernia
HP:0000069 Abnormality of the ureter
HP:0000079 Abnormality of the urinary system
HP:0000160 Narrow mouth
HP:0000175 Cleft palate
HP:0000205 Pursed lips
HP:0000211 Trismus
HP:0000218 High palate
HP:0000232 Everted lower lip vermilion
HP:0000252 Microcephaly
Displaying 1 entry
Gene ID Gene Symbol Description
3339 HSPG2 heparan sulfate proteoglycan 2

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024