eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| schwartz jampel syndrome | ||||
| Disease ID | 1637 |
|---|---|
| Disease | schwartz jampel syndrome |
| Definition | A classification for rare genetic syndromes with an autosomal recessive pattern of inheritance. Clinical features include muscle stiffness and weakness, facial and skeletal abnormalities with joint contractures and short stature. Two types have been characterized: Schwartz-Jampel Syndrome type I (SJSI) and Schwartz-Jampel Syndrome type II (SJSII). SJSI is associated with a mutation of the HSPG2 gene on chromosome 1 and has been further characterized into two subtypes IA and IB. SJSIA is more common, less severe in presentation and is seen later in childhood than SJSIB. For both SJSI subtypes, prognosis is favorable as the main feature of muscle stiffness is slowly progressive, if at all, and is compatible with a normal life span. SJSII is apparent at birth, shares the same clinical profile and mutation in the LIFR gene noted in Stuve-Wiedemann Syndrome and is thus presumed to be the same disorder. In contrast to SJSI, its presentation is more severe and likelihood of survivability is much lower. |
| Synonym | aberfeld syndrome chondrodystrophic myotonia chondrodystrophy, myotonic congenital myotonic chondrodystrophy jampel schwartz syndrome myotonia chondrodystrophica myotonia, chondrodystrophic myotonic chondrodystrophy myotonic chondrodystrphy myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities osteochondromuscular dystrophy schwartz jampel aberfeld syndrome schwartz jampel syndrome, type 1 schwartz syndrome schwartz syndrome (disorder) schwartz-jampel disease schwartz-jampel syndrome schwartz-jampel syndrome (disorder) schwartz-jampel syndrome, type 1 schwartz-jampel-aberfeld syndrome sja syndrome sjs sjs1 spondylo-epimetaphyseal dysplasia with myotonia syndrome, schwartz-jampel-aberfeld |
| Orphanet | |
| OMIM | |
| ICD10 | |
| UMLS | C0036391 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1637 |
|---|---|
| Disease | schwartz jampel syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1637 |
|---|---|
| Disease | schwartz jampel syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137853248 | NA | 3339 | HSPG2 | umls:C0036391 | CLINVAR | NA | 0.441357209 | NA | HSPG2 | 1 | 21864874 | C | T |
| rs137853248 | 18647752 | 3339 | HSPG2 | umls:C0036391 | BeFree | We used homologous recombination to generate a knock-in mouse strain with one missense substitution, corresponding to a human familial SJS mutation (p.C1532Y), in the perlecan gene. | 0.441357209 | 2008 | HSPG2 | 1 | 21864874 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1637 |
|---|---|
| Disease | schwartz jampel syndrome |
| Case | (Waiting for update.) |