Details of Disease

General Information of Disease (ID: DISLC6W8)

Disease Name Spondyloepiphyseal dysplasia congenita
Synonyms
congenital spondyloepiphyseal dysplasia; SED congenita; spondyloepiphyseal dysplasia, congenital type; Spranger-Wiedemann disease; Spondyloepiphyseal Dysplasia, Congenital; spondyloepiphyseal dysplasia congenita; SEDC
Definition A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
Disease Hierarchy
DIS8WIDY: Type 2 collagenopathy
DIS1JG9A: Spondyloepiphyseal dysplasia
DISLC6W8: Spondyloepiphyseal dysplasia congenita
Disease Identifiers
MONDO ID
MONDO_0008471
MESH ID
C535788
UMLS CUI
C2745959
OMIM ID
183900
MedGen ID
412530
Orphanet ID
94068
SNOMED CT ID
278713008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HSPG2 TT5UM29 Strong Biomarker [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CHST3 DEQIZP2 Strong Genetic Variation [2]
------------------------------------------------------------------------------------
This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACAN OTUOCW8K Strong Genetic Variation [3]
CANT1 OT1TPWQR Strong Genetic Variation [4]
CCN6 OTRFHQ2Z Strong Genetic Variation [5]
HAPLN1 OTXWR9TJ Strong Biomarker [6]
SMARCAL1 OTTKXLUZ Strong Genetic Variation [7]
COL2A1 OT5E59C8 Definitive Autosomal dominant [8]
------------------------------------------------------------------------------------
⏷ Show the Full List of 6 DOT(s)

References

1 Role of collagen type II and perlecan in skeletal development.Ann N Y Acad Sci. 2003 May;995:140-50. doi: 10.1111/j.1749-6632.2003.tb03217.x.
2 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.
3 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.
4 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.
5 Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type. Hum Mutat. 2015 Oct;36(10):1004-8. doi: 10.1002/humu.22839. Epub 2015 Aug 6.
6 Genetic rescue of chondrodysplasia and the perinatal lethal effect of cartilage link protein deficiency.J Biol Chem. 2003 Oct 3;278(40):39214-23. doi: 10.1074/jbc.M303329200. Epub 2003 May 5.
7 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.
8 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.