KEGG   DISEASE: Schwartz-Jampel syndrome
Entry
H01777                      Disease                                
Name
Schwartz-Jampel syndrome
  Supergrp
Heparan sulfate proteoglycan gene defects [DS:H00493]
Description
Schwartz-Jampel syndrome (SJS) is a rare hereditary disorder with joint contractures, generalized myotonia, skeletal anomalies, and facial dysmorphism. Schwartz-Jampel syndrome (SJS) is a term now applied to 2 different autosomal recessive disorder, sometimes termed SJS type 1 and SJS type 2. SJS type 1 results from mutations in the HSPG2 gene, which encodes perlecan, a major component of basement membranes. It exhibits muscle stiffness, mild muscle weakness, and a number of minor morphological abnormalities. In affected patients, problems with motor development frequently become evident during the first year of life. SJS type 2, also known as Stuve-Wiedemann syndrome [DS:H00462], is a genetically distinct disorder with a more severe phenotype.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C71  Myotonic disorders
     H01777  Schwartz-Jampel syndrome
Pathway
hsa04512  ECM-receptor interaction
Gene
HSPG2 [HSA:3339] [KO:K06255]
Comment
Silverman-Handmaker type of dyssegmental dysplasia is an allelic disorder with a more severe phenotype.
See also H00462 Stuve-Wiedemann syndrome and H00493 Heparan sulfate proteoglycan gene defects.
Other DBs
ICD-11: 8C71.1
ICD-10: G71.1
MeSH: D010009
OMIM: 255800
Reference
  Authors
Polat I, Karaoglu P, Yis U, Kurul SH
  Title
Schwartz-Jampel syndrome with gastroduodenal bleeding.
  Journal
J Pediatr Neurosci 11:255-257 (2016)
DOI:10.4103/1817-1745.193351
Reference
  Authors
Stum M, Davoine CS, Vicart S, Guillot-Noel L, Topaloglu H, Carod-Artal FJ, Kayserili H, Hentati F, Merlini L, Urtizberea JA, Hammouda el-H, Quan PC, Fontaine B, Nicole S
  Title
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.
  Journal
Hum Mutat 27:1082-91 (2006)
DOI:10.1002/humu.20388
LinkDB

ยป Japanese version

DBGET integrated database retrieval system