Details of Disease

General Information of Disease (ID: DISR4BHB)

• Disease Name: Hyperostosis corticalis generalisata
• Synonyms: endosteal hyperostosis autosomal recessive; VBCH; endosteal hyperostosis, autosomal recessive; SOST-related sclerosing bone dysplasia; VAN Buchem disease; van Buchem disease; hyperphosphatasemia tarda; endosteal hyperostosis; van Buchem disease type 1; Van Buchem disease; hyperostosis corticalis generalisata
• Definition: Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.
• Disease Hierarchy:
  DIS60EOE: Hyperostosis
  DIS5Z8U6: Skeletal dysplasia
  DISR4BHB: Hyperostosis corticalis generalisata
• Disease Identifiers:
  MONDO ID: MONDO_0009395
  MESH ID: D010009
  UMLS CUI: C0432272
  OMIM ID: 239100
  MedGen ID: 98484
  Orphanet ID: 3416
  SNOMED CT ID: 59763006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 12 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]
NR1D1	TTAD1O8	Disputed	Biomarker	[4]
TRPV4	TTKP2SU	Disputed	Biomarker	[5]
LRP5	TT7VMG4	Supportive	Autosomal dominant	[6]
SOST	TTYRO4F	Supportive	Autosomal dominant	[7]
FLNA	TTSTRZY	Strong	Biomarker	[8]
HSPG2	TT5UM29	Strong	Biomarker	[9]
LRP5	TT7VMG4	Strong	Genetic Variation	[10]
SOST	TTYRO4F	Strong	Biomarker	[11]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CHST3	DEQIZP2	Limited	Biomarker	[12]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL11A1	OTB0DRMS	Limited	Biomarker	[13]
COL2A1	OT5E59C8	Limited	Biomarker	[14]
KREMEN1	OTGJFSAC	Disputed	Genetic Variation	[15]
LRP5	OTCC4JPH	Supportive	Autosomal dominant	[6]
SOST	OT0NUJIZ	Supportive	Autosomal dominant	[7]
ADAMTSL2	OTAXNV2U	Strong	Biomarker	[16]
COL9A1	OTWBR27Y	Strong	Biomarker	[17]
MEOX1	OTJEMT2D	Strong	Biomarker	[18]
POLR3GL	OT694B27	Strong	Genetic Variation	[19]

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] Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.Am J Hum Genet. 1998 Feb;62(2):391-9. doi: 10.1086/301721.
• [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] Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet. 2003 Mar;72(3):763-71. doi: 10.1086/368277. Epub 2003 Feb 10.
• [7] Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. J Med Genet. 2002 Feb;39(2):91-7. doi: 10.1136/jmg.39.2.91.
• [8] 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.
• [9] 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.
• [10] High bone mass in adults.Joint Bone Spine. 2018 Dec;85(6):693-699. doi: 10.1016/j.jbspin.2018.01.007. Epub 2018 Mar 2.
• [11] Methylation of bone SOST impairs SP7, RUNX2, and ER transactivation in patients with postmenopausal osteoporosis.Biochem Cell Biol. 2019 Aug;97(4):369-374. doi: 10.1139/bcb-2018-0170. Epub 2018 Sep 26.
• [12] 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.
• [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 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.
• [15] Genetic analysis and effect of triiodothyronine and prednisone trial on bone turnover in a patient with craniotubular hyperostosis.Bone. 2008 Aug;43(2):405-409. doi: 10.1016/j.bone.2008.04.011. Epub 2008 Apr 29.
• [16] 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.
• [17] 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.
• [18] A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population.Am J Med Genet. 2002 Jun 15;110(2):144-52. doi: 10.1002/ajmg.10401.
• [19] Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia.Eur J Hum Genet. 2020 Jan;28(1):31-39. doi: 10.1038/s41431-019-0427-0. Epub 2019 May 14.