Details of Disease

Disease Name

Bone development disease

disease of bone development; bone development disease or disorder; disease or disorder of bone development; disorder of bone development; bone development disease

Definition

A disease involving the bone development.

Disease Hierarchy

DISQCXZX: Disorder of development or morphogenesis

DISE1F82: Bone disease

DISWD40R: Disease

DISVKAZS: Bone development disease

Disease Identifiers

MONDO ID

MONDO_0005497

MESH ID

D001848

UMLS CUI

C0005941

MedGen ID

2309

SNOMED CT ID

371521007

General Information of Disease (ID: DISVKAZS)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 14 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
P4HA1	TTNH25W	Limited	Genetic Variation	[1]
PCSK5	TTPFWHU	Limited	Biomarker	[2]
PPIB	TT6ZFQ4	moderate	Genetic Variation	[3]
ABL1	TT6B75U	Strong	Biomarker	[4]
ANK1	TTKFPMH	Strong	Biomarker	[5]
CHUK	TT1F8OQ	Strong	Biomarker	[6]
GLB1	TTNGJPH	Strong	Biomarker	[7]
IGF2	TTE8WGO	Strong	Biomarker	[8]
NPPC	TTRK0B9	Strong	Biomarker	[9]
PNPLA6	TTWAQU2	Strong	Genetic Variation	[10]
SOST	TTYRO4F	Strong	Genetic Variation	[11]
TCIRG1	TTVRN05	Strong	Genetic Variation	[12]
TGFB2	TTI0KH6	Strong	Biomarker	[13]
RPS6KA3	TTUM2ZR	Definitive	Biomarker	[14]
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⏷ Show the Full List of 14 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC34A1	DT42EWA	Limited	Biomarker	[15]
SLC26A2	DTFSLX5	Strong	Biomarker	[16]
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This Disease Is Related to 31 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL9A1	OTWBR27Y	Limited	Biomarker	[17]
COL9A2	OT1ZBDBV	Limited	Biomarker	[17]
COL9A3	OTCUJOEK	Limited	Biomarker	[17]
PAX9	OT25J0F7	Limited	Genetic Variation	[18]
FAM20C	OTW5YZ7X	Disputed	Genetic Variation	[19]
GYPB	OTESHUIX	moderate	Genetic Variation	[20]
GYPE	OTBHAG6A	moderate	Genetic Variation	[20]
PHEX	OTG7N3J7	moderate	Genetic Variation	[21]
TCFL5	OTJL4348	moderate	Biomarker	[22]
TMEM165	OTMVJ0GA	moderate	Biomarker	[23]
AFF4	OTTL5Y8R	Strong	Biomarker	[24]
BMPR1B	OTGFN0OD	Strong	Biomarker	[25]
CBFB	OTIAC6W4	Strong	Biomarker	[26]
CHRNG	OTXC2UR7	Strong	Biomarker	[27]
COMP	OTS2FPMI	Strong	Genetic Variation	[21]
DLX5	OTEEFBEU	Strong	Biomarker	[28]
GPC4	OTUJ14DW	Strong	Biomarker	[29]
GPC6	OTNJBESF	Strong	Biomarker	[29]
HOXD11	OT9XGA4G	Strong	Biomarker	[30]
IFT80	OTMH0MBI	Strong	Biomarker	[31]
ITGB1BP1	OTVQFNGS	Strong	Biomarker	[32]
KIF3A	OTMUBSSK	Strong	Biomarker	[33]
LEMD3	OTILAM4I	Strong	Biomarker	[34]
NIPBL	OTF6OOLU	Strong	Biomarker	[35]
RPL13	OTFKNTD6	Strong	Genetic Variation	[36]
SH3PXD2B	OTAOMCDJ	Strong	Biomarker	[37]
TCTN3	OTZSHERV	Strong	Genetic Variation	[38]
TRPS1	OT7XPPEL	Strong	Biomarker	[39]
NANS	OTMQ2FUH	Definitive	Biomarker	[40]
NFIX	OT1DPZAE	Definitive	Genetic Variation	[41]
TMCO1	OTSME34W	Definitive	Biomarker	[42]
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⏷ Show the Full List of 31 DOT(s)

References

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11	Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. Hum Genet. 2011 May;129(5):497-502. doi: 10.1007/s00439-011-0947-3. Epub 2011 Jan 9.
12	Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1. Bone. 2019 Mar;120:495-503. doi: 10.1016/j.bone.2018.12.002. Epub 2018 Dec 8.
13	TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes.Development. 1997 Jul;124(13):2659-70. doi: 10.1242/dev.124.13.2659.
14	Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature. 1996 Dec 12;384(6609):567-70. doi: 10.1038/384567a0.
15	Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities.Proc Natl Acad Sci U S A. 1998 Apr 28;95(9):5372-7. doi: 10.1073/pnas.95.9.5372.
16	A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.Am J Med Genet A. 2008 Nov 15;146A(22):2920-4. doi: 10.1002/ajmg.a.32543.
17	Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.Am J Med Genet A. 2008 Jul 1;146A(13):1682-6. doi: 10.1002/ajmg.a.32313.
18	Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes.Am J Med Genet. 2001 Aug 1;102(2):173-82. doi: 10.1002/ajmg.1418.
19	A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome.Am J Med Genet A. 2019 Sep;179(9):1866-1871. doi: 10.1002/ajmg.a.61291. Epub 2019 Jul 11.
20	Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome).Am J Med Genet. 1982 Dec;13(4):453-63. doi: 10.1002/ajmg.1320130416.
21	A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.J Hum Genet. 2015 Dec;60(12):769-76. doi: 10.1038/jhg.2015.112. Epub 2015 Sep 17.
22	Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14.Pediatr Radiol. 2011 Aug;41(8):1013-9. doi: 10.1007/s00247-011-2132-1. Epub 2011 May 24.
23	Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG.Glycobiology. 2015 Jun;25(6):669-82. doi: 10.1093/glycob/cwv009. Epub 2015 Jan 21.
24	Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. Nat Genet. 2015 Apr;47(4):338-44. doi: 10.1038/ng.3229. Epub 2015 Mar 2.
25	A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.J Med Genet. 2005 Apr;42(4):314-7. doi: 10.1136/jmg.2004.023564.
26	Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome.Am J Med Genet A. 2006 Nov 1;140(21):2349-54. doi: 10.1002/ajmg.a.31479.
27	Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet. 2006 Aug;79(2):390-5. doi: 10.1086/506256. Epub 2006 Jun 20.
28	Craniofacial, vestibular and bone defects in mice lacking the Distal-less-related gene Dlx5.Development. 1999 Sep;126(17):3795-809. doi: 10.1242/dev.126.17.3795.
29	Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet. 2019 May 2;104(5):914-924. doi: 10.1016/j.ajhg.2019.02.026. Epub 2019 Apr 11.
30	Axial homeosis and appendicular skeleton defects in mice with a targeted disruption of hoxd-11.Development. 1994 Aug;120(8):2187-98. doi: 10.1242/dev.120.8.2187.
31	IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet. 2007 Jun;39(6):727-9. doi: 10.1038/ng2038. Epub 2007 Apr 29.
32	Defective osteoblast function in ICAP-1-deficient mice.Development. 2007 Jul;134(14):2615-25. doi: 10.1242/dev.000877. Epub 2007 Jun 13.
33	Kinesin-2 controls development and patterning of the vertebrate skeleton by Hedgehog- and Gli3-dependent mechanisms.Dev Biol. 2007 Sep 15;309(2):273-84. doi: 10.1016/j.ydbio.2007.07.018. Epub 2007 Jul 24.
34	Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis.Pediatr Dermatol. 2015 Sep-Oct;32(5):e219-20. doi: 10.1111/pde.12634. Epub 2015 Jul 2.
35	Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.PLoS Genet. 2009 Sep;5(9):e1000650. doi: 10.1371/journal.pgen.1000650. Epub 2009 Sep 18.
36	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.
37	The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development.Mamm Genome. 2009 Aug;20(8):462-75. doi: 10.1007/s00335-009-9210-9. Epub 2009 Aug 8.
38	TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet. 2012 Aug 10;91(2):372-8. doi: 10.1016/j.ajhg.2012.06.017.
39	Identification of the GATA factor TRPS1 as a repressor of the osteocalcin promoter. J Biol Chem. 2009 Nov 13;284(46):31690-703. doi: 10.1074/jbc.M109.052316. Epub 2009 Sep 15.
40	NANS-mediated synthesis of sialic acid is required for brain and skeletal development. Nat Genet. 2016 Jul;48(7):777-84. doi: 10.1038/ng.3578. Epub 2016 May 23.
41	Variants in nuclear factor I genes influence growth and development.Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):611-626. doi: 10.1002/ajmg.c.31747. Epub 2019 Nov 15.
42	Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):258-63. doi: 10.1073/pnas.0908457107. Epub 2009 Dec 14.