MCID: SST002
MIFTS: 10

Sost-Related Sclerosing Bone Dysplasias

Categories: Bone diseases

Aliases & Classifications for Sost-Related Sclerosing Bone Dysplasias

MalaCards integrated aliases for Sost-Related Sclerosing Bone Dysplasias:

Name: Sost-Related Sclerosing Bone Dysplasias 24

Classifications:



Summaries for Sost-Related Sclerosing Bone Dysplasias

MalaCards based summary : Sost-Related Sclerosing Bone Dysplasias is related to van buchem disease and chromosome 2q35 duplication syndrome. An important gene associated with Sost-Related Sclerosing Bone Dysplasias is SOST (Sclerostin). Affiliated tissues include bone.

GeneReviews: NBK1228

Related Diseases for Sost-Related Sclerosing Bone Dysplasias

Diseases related to Sost-Related Sclerosing Bone Dysplasias via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 12, show less)
# Related Disease Score Top Affiliating Genes
1 van buchem disease 12.7
2 chromosome 2q35 duplication syndrome 10.3
3 sclerosteosis 1 10.3
4 sclerosteosis 10.3
5 bone resorption disease 10.3
6 sensorineural hearing loss 10.3
7 facial paralysis 10.3
8 hyperostosis 10.3
9 radiculopathy 10.3
10 exophthalmos 10.3
11 primary bone dysplasia with increased bone density 10.3
12 overgrowth syndrome 10.3

Graphical network of the top 20 diseases related to Sost-Related Sclerosing Bone Dysplasias:



Diseases related to Sost-Related Sclerosing Bone Dysplasias

Symptoms & Phenotypes for Sost-Related Sclerosing Bone Dysplasias

Drugs & Therapeutics for Sost-Related Sclerosing Bone Dysplasias

Search Clinical Trials , NIH Clinical Center for Sost-Related Sclerosing Bone Dysplasias

Genetic Tests for Sost-Related Sclerosing Bone Dysplasias

Anatomical Context for Sost-Related Sclerosing Bone Dysplasias

MalaCards organs/tissues related to Sost-Related Sclerosing Bone Dysplasias:

41
Bone

Publications for Sost-Related Sclerosing Bone Dysplasias

Articles related to Sost-Related Sclerosing Bone Dysplasias:

(showing 33, show less)
# Title Authors PMID Year
1
Sclerostin deficiency in humans. 4
27742500 2017
2
Sclerosteosis caused by a novel nonsense mutation of SOST in a consanguineous family. 4
26283468 2016
3
Decompressive surgery in a patient with hyperostosis corticalis generalisata for relief of cognitive disability and dysaesthesia. 4
25976340 2015
4
Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger. 4
25835322 2015
5
A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis. 4
25984533 2015
6
Sclerostin deficiency is linked to altered bone composition. 4
24753092 2014
7
Novel SOST gene mutation in a sclerosteosis patient from Morocco: a case report. 4
24594238 2014
8
Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriers. 4
23074140 2013
9
Novel SOST gene mutation in a sclerosteosis patient and her parents. 4
23079137 2013
10
A rare cause of facial nerve palsy in children: hyperostosis corticalis generalisata (Van Buchem disease). Three new pediatric cases and a literature review. 4
22445802 2012
11
Patients with sclerosteosis and disease carriers: human models of the effect of sclerostin on bone turnover. 4
21786318 2011
12
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. 4
21221996 2011
13
Glucocorticoids are not always deleterious for bone. 4
20549703 2010
14
Sclerostin and the regulation of bone formation: Effects in hip osteoarthritis and femoral neck fracture. 4
20200987 2010
15
First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function. 4
20583295 2010
16
A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin. 4
19072561 2008
17
A boy with severe craniodiaphyseal dysplasia and apparently normal mother. 4
17853455 2007
18
A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. 4
15869924 2005
19
Patients with Van Buchem disease, an osteosclerotic genetic disease, have elevated bone formation markers, higher bone density, and greater derived polar moment of inertia than normal. 4
14671168 2003
20
The natural history of sclerosteosis. 4
12694228 2003
21
A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population. 4
12116252 2002
22
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. 4
11836356 2002
23
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. 4
11179006 2001
24
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). 4
11181578 2001
25
Syndactyly/brachyphalangy and nail dysplasias as marker lesions for sclerosteosis. 4
11385236 2001
26
Sclerosteosis: neurosurgical experience with 14 cases. 4
8433139 1993
27
Sclerosteosis. 4
3351908 1988
28
The syndromic status of sclerosteosis and van Buchem disease. 4
6323069 1984
29
Sclerosteosis: neurogenetic and pathophysiologic analysis of an American kinship. 4
6681869 1983
30
Sclerosteosis in old age. 4
7404164 1980
31
Endocrine function in sclerosteosis. 4
225834 1979
32
Sclerosteosis in South Africa. 4
223247 1979
33
SOST-Related Sclerosing Bone Dysplasias 38
20301406 2002

Variations for Sost-Related Sclerosing Bone Dysplasias

Expression for Sost-Related Sclerosing Bone Dysplasias

Search GEO for disease gene expression data for Sost-Related Sclerosing Bone Dysplasias.

Pathways for Sost-Related Sclerosing Bone Dysplasias

GO Terms for Sost-Related Sclerosing Bone Dysplasias

Sources for Sost-Related Sclerosing Bone Dysplasias

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....