Details of Disease

Disease Name

Spondyloepiphyseal dysplasia

SED; spondyloepiphyseal dysplasia

Definition

An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis.

Disease Hierarchy

DIS9SPWW: Osteochondrodysplasia

DIS5Z8U6: Skeletal dysplasia

DIS1JG9A: Spondyloepiphyseal dysplasia

Disease Identifiers

MONDO ID

MONDO_0016761

MESH ID

D010009

UMLS CUI

C0038015

MedGen ID

20916

HPO ID

HP:0002655

Orphanet ID

253

General Information of Disease (ID: DIS1JG9A)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DLL3	TT1C9K6	Limited	Biomarker	[1]
FLT1	TT1VAUK	Limited	Biomarker	[2]
KDR	TTUTJGQ	Limited	Biomarker	[2]
TRPV4	TTKP2SU	moderate	Genetic Variation	[3]
FLNA	TTSTRZY	Strong	Biomarker	[4]
GLB1	TTNGJPH	Strong	Genetic Variation	[5]
HSPG2	TT5UM29	Strong	Biomarker	[6]
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⏷ Show the Full List of 7 DTT(s)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CHST3	DEQIZP2	Limited	Genetic Variation	[7]
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This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRAPPC2	OTWL5H45	Limited	Genetic Variation	[8]
RPL13	OTFKNTD6	Moderate	Autosomal dominant	[9]
ACAN	OTUOCW8K	Strong	Genetic Variation	[10]
ADAMTSL2	OTAXNV2U	Strong	Biomarker	[11]
CANT1	OT1TPWQR	Strong	Genetic Variation	[12]
COL11A1	OTB0DRMS	Strong	Biomarker	[13]
COL2A1	OT5E59C8	Strong	Genetic Variation	[14]
COL9A1	OTWBR27Y	Strong	Biomarker	[15]
SMARCAL1	OTTKXLUZ	Strong	Genetic Variation	[16]
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⏷ Show the Full List of 9 DOT(s)

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	TRPV4-pathy, a novel channelopathy affecting diverse systems.J Hum Genet. 2010 Jul;55(7):400-2. doi: 10.1038/jhg.2010.37. Epub 2010 May 27.
4	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.
5	Morquio-B disease, spondyloepiphyseal dysplasia associated with acid beta-galactosidase deficiency. Report of three cases in one family.Hum Genet. 1983;64(1):50-4. doi: 10.1007/BF00289478.
6	Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. Nat Genet. 2001 Apr;27(4):431-4. doi: 10.1038/86941.
7	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.
8	A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree.Genet Mol Res. 2014 Apr 29;13(2):3362-70. doi: 10.4238/2014.April.29.15.
9	RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature. Am J Hum Genet. 2019 Nov 7;105(5):1040-1047. doi: 10.1016/j.ajhg.2019.09.024. Epub 2019 Oct 17.
10	A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. Am J Hum Genet. 2005 Sep;77(3):484-90. doi: 10.1086/444401. Epub 2005 Jul 22.
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	Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.Eur J Hum Genet. 2015 Jan;23(1):49-53. doi: 10.1038/ejhg.2014.60. Epub 2014 Apr 23.
13	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.
14	A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita.Genet Test Mol Biomarkers. 2019 May;23(5):310-315. doi: 10.1089/gtmb.2018.0301. Epub 2019 Mar 30.
15	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.
16	Schimke immunoosseous dysplasia: defining skeletal features.Eur J Pediatr. 2010 Jul;169(7):801-11. doi: 10.1007/s00431-009-1115-9. Epub 2009 Dec 15.