Details of Disease

General Information of Disease (ID: DIS42TKQ)

• Disease Name: Schwartz-Jampel syndrome type 1
• Synonyms: Schwartz-Jampel syndrome, type 1; Schwartz-Jampel syndrome 1; Chondrodystrophic myotonia; SJS1; SJA syndrome; Schwartz-Jampel syndrome type 1
• Disease Hierarchy:
  DIS3HCR8: Schwartz-Jampel syndrome
  DIS42TKQ: Schwartz-Jampel syndrome type 1
• Disease Identifiers:
  MONDO ID: MONDO_0100435
  MESH ID: D010009
  UMLS CUI: C4551479
  OMIM ID: 255800
  MedGen ID: 1647990

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DLL3	TT1C9K6	Limited	Biomarker	[1]
FLT1	TT1VAUK	Limited	Biomarker	[2]
GLB1	TTNGJPH	Limited	Biomarker	[3]
KDR	TTUTJGQ	Limited	Biomarker	[2]
TRPV4	TTKP2SU	Disputed	Biomarker	[4]
FLNA	TTSTRZY	Strong	Biomarker	[5]
HSPG2	TT5UM29	Definitive	Autosomal recessive	[6]
HSPG2	TT5UM29	Definitive	Genetic Variation	[7]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CHST3	DEQIZP2	Limited	Biomarker	[8]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL11A1	OTB0DRMS	Limited	Biomarker	[9]
COL2A1	OT5E59C8	Limited	Biomarker	[10]
ADAMTSL2	OTAXNV2U	Strong	Biomarker	[11]
COL9A1	OTWBR27Y	Strong	Biomarker	[12]
HSPG2	OT6HTSJT	Definitive	Autosomal recessive	[6]

References

• [1] Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia.Am J Med Genet. 2000 Dec 18;95(5):482-91. doi: 10.1002/1096-8628(20001218)95:5<482::aid-ajmg14>3.0.co;2-x.
• [2] Thiram-induced changes in the expression of genes relating to vascularization and tibial dyschondroplasia.Poult Sci. 2007 Nov;86(11):2390-5. doi: 10.3382/ps.2007-00219.
• [3] Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency.Clin Genet. 1976 May;9(5):495-504. doi: 10.1111/j.1399-0004.1976.tb01603.x.
• [4] Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet. 2008 Aug;40(8):999-1003. doi: 10.1038/ng.166. Epub 2008 Jun 29.
• [5] Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet. 2003 Apr;33(4):487-91. doi: 10.1038/ng1119. Epub 2003 Mar 3.
• [6] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [7] Novel HSPG2 mutations causing SchwartzJampel syndrome type 1 in a Chinese family: A case report.Mol Med Rep. 2018 Aug;18(2):1761-1765. doi: 10.3892/mmr.2018.9143. Epub 2018 Jun 6.
• [8] Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia: A case report.Medicine (Baltimore). 2018 Sep;97(36):e12214. doi: 10.1097/MD.0000000000012214.
• [9] Craniofacial cartilage morphogenesis requires zebrafish col11a1 activity.Matrix Biol. 2009 Oct;28(8):490-502. doi: 10.1016/j.matbio.2009.07.004. Epub 2009 Jul 26.
• [10] A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.Genomics. 1993 Apr;16(1):282-5. doi: 10.1006/geno.1993.1179.
• [11] ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet. 2008 Sep;40(9):1119-23. doi: 10.1038/ng.199.
• [12] A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Am J Hum Genet. 2006 Sep;79(3):449-57. doi: 10.1086/506478. Epub 2006 Jun 26.