Details of Disease

General Information of Disease (ID: DIS3HCR8)

• Disease Name: Schwartz-Jampel syndrome
• Synonyms: Schwartz Jampel syndrome; myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities; Schwartz Jampel Aberfeld syndrome; myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities; myotonic chondrodystrophy; Schwartz-Jampel-Aberfeld syndrome; Catel-Hempel syndrome; burton skeletal dysplasia; dysostosis enchondralis metaepiphysaria, Catel-Hempel type; burton syndrome; Aberfeld syndrome; Schwartz Jampel Syndrome; myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Catel-Hempel type dysostosis enchondralis metaepiphysaria; Osteochondromuscular dystrophy; osteochondromuscular dystrophy; SJS; Schwartz-Jampel syndrome
• Definition: A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISCPWH9: Autosomal recessive disease
  DIS1JG9A: Spondyloepiphyseal dysplasia
  DISR6T5K: Qualitative or quantitative defects of perlecan
  DIS3HCR8: Schwartz-Jampel syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0009717
  MESH ID: D010009
  UMLS CUI: C0036391
  MedGen ID: 19892
  Orphanet ID: 800
  SNOMED CT ID: 29145002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 16 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]
HLA-A	TTHONFT	Limited	Genetic Variation	[4]
KDR	TTUTJGQ	Limited	Biomarker	[2]
TRPV4	TTKP2SU	Disputed	Biomarker	[5]
HSPG2	TT5UM29	Supportive	Autosomal recessive	[6]
TLR3	TTD24Y0	moderate	Genetic Variation	[7]
C3AR1	TTI6B3F	Strong	Biomarker	[8]
CCL17	TTMPHAE	Strong	Altered Expression	[9]
CYP2C9	TTR40YJ	Strong	Genetic Variation	[10]
FLNA	TTSTRZY	Strong	Biomarker	[11]
GZMB	TTKEPHX	Strong	Biomarker	[12]
HSPG2	TT5UM29	Strong	Biomarker	[13]
SGSH	TTPJ2SH	Strong	Biomarker	[14]
TPP1	TTOVYPT	Strong	Biomarker	[15]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CHST3	DEQIZP2	Limited	Biomarker	[16]
CYP2C18	DEZMWRE	Strong	Altered Expression	[10]

This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL11A1	OTB0DRMS	Limited	Biomarker	[17]
COL2A1	OT5E59C8	Limited	Biomarker	[18]
HSPG2	OT6HTSJT	Supportive	Autosomal recessive	[6]
ADAMTSL2	OTAXNV2U	Strong	Biomarker	[19]
BAG6	OT4Z0S2U	Strong	Biomarker	[20]
COL9A1	OTWBR27Y	Strong	Biomarker	[21]
GNLY	OTZJKA8C	Strong	Biomarker	[22]
IKZF1	OTCW1FKL	Strong	Genetic Variation	[7]
PANK2	OTFBW889	Strong	Biomarker	[14]
SETX	OTG3JNOQ	Strong	Biomarker	[23]
SPTBN2	OTDMJ75N	Strong	Biomarker	[24]
TRAF3IP2	OTLLZERL	Strong	Genetic Variation	[25]

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] Identification of HLA-A*02:06:01 as the primary disease susceptibility HLA allele in cold medicine-related Stevens-Johnson syndrome with severe ocular complications by high-resolution NGS-based HLA typing.Sci Rep. 2019 Nov 7;9(1):16240. doi: 10.1038/s41598-019-52619-2.
• [5] 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.
• [6] Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin. Muscle Nerve. 2009 Jul;40(1):55-61. doi: 10.1002/mus.21253.
• [7] Results of Detailed Investigations Into Stevens-Johnson Syndrome With Severe Ocular Complications.Invest Ophthalmol Vis Sci. 2018 Nov 1;59(14):DES183-DES191. doi: 10.1167/iovs.17-23537.
• [8] Altered levels of complement components associated with non-immediate drug hypersensitivity reactions.J Immunotoxicol. 2020 Dec;17(1):1-9. doi: 10.1080/1547691X.2019.1695985.
• [9] The thymus and activation-regulated chemokine (TARC) level in serum at an early stage of a drug eruption is a prognostic biomarker of severity of systemic inflammation.Allergol Int. 2018 Jan;67(1):90-95. doi: 10.1016/j.alit.2017.06.001. Epub 2017 Jun 22.
• [10] Association of CYP2C9*3 with phenytoin-induced Stevens-Johnson syndrome and toxic epidermal necrolysis: A systematic review and meta-analysis.J Clin Pharm Ther. 2018 Jun;43(3):408-413. doi: 10.1111/jcpt.12660. Epub 2017 Dec 23.
• [11] 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.
• [12] Severe cutaneous adverse drug reactions.J Dermatol. 2016 Jul;43(7):758-66. doi: 10.1111/1346-8138.13430. Epub 2016 May 6.
• [13] Perlecan/Hspg2 deficiency impairs bone's calcium signaling and associated transcriptome in response to mechanical loading.Bone. 2020 Feb;131:115078. doi: 10.1016/j.bone.2019.115078. Epub 2019 Nov 9.
• [14] Genetic testing for prevention of severe drug-induced skin rash.Cochrane Database Syst Rev. 2019 Jul 17;7(7):CD010891. doi: 10.1002/14651858.CD010891.pub2.
• [15] Carbamazepine-induced severe cutaneous adverse reactions and HLA genotypes in Koreans. Epilepsy Res. 2011 Nov;97(1-2):190-7. doi: 10.1016/j.eplepsyres.2011.08.010. Epub 2011 Sep 13.
• [16] 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.
• [17] 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.
• [18] 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.
• [19] 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.
• [20] Association of ABCB1,CYP3A4,EPHX1,FAS,SCN1A,MICA, andBAG6 polymorphisms with the risk of carbamazepine-induced Stevens-Johnson syndrome/toxic epidermal necrolysis in Chinese Han patients with epilepsy.Epilepsia. 2014 Aug;55(8):1301-6. doi: 10.1111/epi.12655. Epub 2014 May 23.
• [21] 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.
• [22] Mutant GNLY is linked to Stevens-Johnson syndrome and toxic epidermal necrolysis.Hum Genet. 2019 Dec;138(11-12):1267-1274. doi: 10.1007/s00439-019-02066-w. Epub 2019 Oct 14.
• [23] Associations between HLA class I and cytochrome P450 2C9 genetic polymorphisms and phenytoin-related severe cutaneous adverse reactions in a Thai population.Pharmacogenet Genomics. 2016 May;26(5):225-34. doi: 10.1097/FPC.0000000000000211.
• [24] Severe cutaneous adverse reactions induced by targeted anticancer therapies and immunotherapies.Cancer Manag Res. 2018 May 17;10:1259-1273. doi: 10.2147/CMAR.S163391. eCollection 2018.
• [25] A pharmacogenetics study in Mozambican patients treated with nevirapine: full resequencing of TRAF3IP2 gene shows a novel association with SJS/TEN susceptibility.Int J Mol Sci. 2015 Mar 12;16(3):5830-8. doi: 10.3390/ijms16035830.