SOST
MCID: SCL048
MIFTS: 49

Sclerosteosis (SOST)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Sclerosteosis

MalaCards integrated aliases for Sclerosteosis:

Name: Sclerosteosis 12 76 53 59 37 13 55 44 15 40 73
Cortical Hyperostosis-Syndactyly Syndrome 59
Cortical Hyperostosis with Syndactyly 53
Sost 53

Characteristics:

Orphanet epidemiological data:

59
sclerosteosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Neonatal; Age of death: adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060251
MeSH 44 C537525
NCIt 50 C131133
SNOMED-CT 68 17568006
Orphanet 59 ORPHA3152
MESH via Orphanet 45 C537525
UMLS via Orphanet 74 C0265301
ICD10 via Orphanet 34 M85.2
KEGG 37 H00486
UMLS 73 C0265301

Summaries for Sclerosteosis

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3152Disease definitionSclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.Visit the Orphanet disease page for more resources.

MalaCards based summary : Sclerosteosis, also known as cortical hyperostosis-syndactyly syndrome, is related to sclerosteosis 1 and sclerosteosis 2, and has symptoms including unspecified visual loss An important gene associated with Sclerosteosis is SOST (Sclerostin), and among its related pathways/superpathways are Wnt signaling pathway and Wnt / Hedgehog / Notch. Affiliated tissues include bone, kidney and prostate, and related phenotypes are ptosis and facial palsy

Disease Ontology : 12 A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life.

Wikipedia : 76 Sclerosteosis is an autosomal recessive disorder characterized by bone overgrowth. It was first... more...

Related Diseases for Sclerosteosis

Diseases in the Sclerosteosis family:

Sclerosteosis 1 Sclerosteosis 2

Diseases related to Sclerosteosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 sclerosteosis 1 34.1 LRP4 SOST
2 sclerosteosis 2 33.4 LRP4 LRP5 LRP6 SOST
3 craniodiaphyseal dysplasia 32.2 LRP5 LRP6 SOST
4 ischemic bone disease 31.8 RUNX2 SOST
5 renal osteodystrophy 31.8 SOST VDR
6 osteogenesis imperfecta, type vi 31.7 COL1A1 SOST
7 mass syndrome 31.6 LRP5 SOST
8 bone disease 31.6 COL1A1 LRP5 RUNX2 SOST VDR
9 osteopetrosis, autosomal dominant 2 31.5 LRP5 SOST
10 osteoporosis, juvenile 31.3 COL1A1 LRP5 SOST
11 van buchem disease 31.3 COL1A1 LRP4 LRP5 LRP6 SOST VDR
12 cenani-lenz syndactyly syndrome 31.2 LRP4 LRP5 LRP6 SOST
13 bone remodeling disease 31.1 LRP5 RUNX2 SOST VDR
14 osteoporosis 31.0 COL1A1 LRP5 LRP6 NOG RUNX2 SOST
15 bone resorption disease 30.8 COL1A1 LRP5 RUNX2 SOST VDR
16 hyperostosis 29.6 COL1A1 LRP4 LRP5 SOST
17 sost-related sclerosing bone dysplasias 12.2
18 craniodiaphyseal dysplasia, autosomal dominant 11.3
19 spondylitis 11.2
20 impaired renal function disease 11.1
21 regular astigmatism 11.1
22 hypercementosis 11.1
23 kummell's disease 11.1
24 chromophobe renal cell carcinoma 10.1
25 polycystic kidney disease 10.1
26 bone mineral density quantitative trait locus 8 10.1
27 bone mineral density quantitative trait locus 15 10.1
28 osseous heteroplasia, progressive 10.1 NOG RUNX2
29 spondylocarpotarsal synostosis syndrome 10.1 NOG RUNX2
30 trigeminal neuralgia 10.0
31 intracranial hypertension 10.0
32 hyperphalangy 10.0
33 ankylosis 10.0 NOG RUNX2
34 spondyloepiphyseal dysplasia congenita 10.0 COL1A1 RUNX2
35 prostate cancer 10.0
36 retinoblastoma 10.0
37 myelofibrosis 10.0
38 myeloma, multiple 10.0
39 glucocorticoid-induced osteoporosis 10.0
40 syringomyelia 10.0 COL1A1 VDR
41 synovial chondromatosis 9.9 COL1A1 NOG RUNX2
42 hyperphosphatemia 9.9 RUNX2 VDR
43 bone development disease 9.8 COL1A1 RUNX2
44 norrie disease 9.8 GREM1 GREM2 LRP5

Graphical network of the top 20 diseases related to Sclerosteosis:



Diseases related to Sclerosteosis

Symptoms & Phenotypes for Sclerosteosis

Human phenotypes related to Sclerosteosis:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
2 facial palsy 59 32 frequent (33%) Frequent (79-30%) HP:0010628
3 craniofacial hyperostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004493
4 abnormal cortical bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0003103
5 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
6 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
7 diaphyseal thickening 59 32 hallmark (90%) Very frequent (99-80%) HP:0005019
8 increased bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0011001
9 abnormality of the nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000366
10 tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0000098
11 fingernail dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100798
12 2-3 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001233
13 curved distal phalanges of the hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0009838
14 finger syndactyly 59 Very frequent (99-80%)

UMLS symptoms related to Sclerosteosis:


unspecified visual loss

MGI Mouse Phenotypes related to Sclerosteosis:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.24 COL1A1 FGF1 GREM1 GREM2 LRP4 LRP5
2 cellular MP:0005384 10.22 COL1A1 GREM1 LRP4 LRP5 LRP6 NOG
3 growth/size/body region MP:0005378 10.21 COL1A1 GREM1 GREM2 LRP4 LRP5 LRP6
4 craniofacial MP:0005382 10.16 COL1A1 GREM2 LRP4 LRP5 LRP6 NOG
5 limbs/digits/tail MP:0005371 10.11 COL1A1 GREM1 LRP4 LRP5 LRP6 NOG
6 nervous system MP:0003631 10.06 COL1A1 FGF1 GREM1 LRP4 LRP5 LRP6
7 mortality/aging MP:0010768 10.03 COL1A1 GREM1 LRP4 LRP5 LRP6 NOG
8 embryo MP:0005380 10.01 COL1A1 GREM1 LRP4 LRP5 LRP6 NOG
9 endocrine/exocrine gland MP:0005379 10 COL1A1 LRP4 LRP5 NOG RUNX2 VDR
10 digestive/alimentary MP:0005381 9.95 COL1A1 LRP6 NOG RUNX2 VDR
11 integument MP:0010771 9.95 COL1A1 LRP4 LRP6 NOG RUNX2 VDR
12 normal MP:0002873 9.85 COL1A1 FGF1 LRP5 LRP6 NOG SOST
13 renal/urinary system MP:0005367 9.8 COL1A1 GREM1 LRP4 LRP6 NOG VDR
14 reproductive system MP:0005389 9.8 COL1A1 GREM1 LRP4 LRP6 NOG RUNX2
15 skeleton MP:0005390 9.65 COL1A1 GREM1 GREM2 LRP4 LRP5 LRP6
16 respiratory system MP:0005388 9.63 COL1A1 GREM1 LRP4 LRP6 NOG RUNX2
17 vision/eye MP:0005391 9.1 COL1A1 GREM2 LRP5 LRP6 NOG RUNX2

Drugs & Therapeutics for Sclerosteosis

Search Clinical Trials , NIH Clinical Center for Sclerosteosis

Cochrane evidence based reviews: sclerosteosis

Genetic Tests for Sclerosteosis

Anatomical Context for Sclerosteosis

MalaCards organs/tissues related to Sclerosteosis:

41
Bone, Kidney, Prostate

Publications for Sclerosteosis

Articles related to Sclerosteosis:

(show all 47)
# Title Authors Year
1
Genetics of Sost/SOST in sclerosteosis and van Buchem disease animal models. ( 29080811 )
2018
2
Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review. ( 30077757 )
2018
3
The Lrp4 R1170Q homozygous knock-in mouse recapitulates the bone phenotype of sclerosteosis in humans. ( 28477420 )
2017
4
A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone. ( 26751728 )
2016
5
Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger. ( 25835322 )
2015
6
A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis. ( 25984533 )
2015
7
Sclerosteosis caused by a novel nonsense mutation of SOST in a consanguineous family. ( 26283468 )
2015
8
An auditory profile of sclerosteosis. ( 24642276 )
2014
9
Novel SOST gene mutation in a sclerosteosis patient from Morocco: a case report. ( 24594238 )
2014
10
Management of trigeminal neuralgia in sclerosteosis. ( 24349870 )
2013
11
Novel SOST gene mutation in a sclerosteosis patient and her parents. ( 23079137 )
2013
12
Cranial Reconstruction for Treatment of Intracranial Hypertension from Sclerosteosis: Case-Based Update. ( 23182730 )
2012
13
Patients with sclerosteosis and disease carriers: human models of the effect of sclerostin on bone turnover. ( 21786318 )
2011
14
First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function. ( 20583295 )
2010
15
A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin. ( 19072561 )
2008
16
Bone mineral density in sclerosteosis; affected individuals and gene carriers. ( 16189254 )
2005
17
Cbfa1/RUNX2 directs specific expression of the sclerosteosis gene (SOST). ( 14739291 )
2004
18
Unique regulation of SOST, the sclerosteosis gene, by BMPs and steroid hormones in human osteoblasts. ( 15268896 )
2004
19
Identification of the disease-causing gene in sclerosteosis--discovery of a novel bone anabolic target? ( 15615113 )
2004
20
Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites. ( 15514891 )
2004
21
The natural history of sclerosteosis. ( 12694228 )
2003
22
Dental and oral manifestations of sclerosteosis. ( 11570544 )
2001
23
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. ( 11179006 )
2001
24
Syndactyly/brachyphalangy and nail dysplasias as marker lesions for sclerosteosis. ( 11385236 )
2001
25
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). ( 11181578 )
2001
26
Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21. ( 10330353 )
1999
27
Sclerosteosis: report of a case in a black African man. ( 9712543 )
1998
28
Sclerosteosis in a Spanish male: first report in a person of Mediterranean origin. ( 7891385 )
1994
29
Sclerosteosis: neurosurgical experience with 14 cases. ( 8433139 )
1993
30
The fallopian canal and facial nerve in sclerosteosis of the temporal bone: a histopathologic study. ( 2240173 )
1990
31
Jaw involvement in sclerosteosis: a case report. ( 3271700 )
1988
32
Sclerosteosis. ( 3351908 )
1988
33
Cranial CT findings in sclerosteosis. ( 3010687 )
1986
34
Sclerosteosis involving the temporal bone: histopathologic aspects. ( 3953965 )
1986
35
The syndromic status of sclerosteosis and van Buchem disease. ( 6323069 )
1984
36
Sclerosteosis involving the temporal bone: clinical and radiologic aspects. ( 6673595 )
1983
37
Sclerosteosis: neurogenetic and pathophysiologic analysis of an American kinship. ( 6681869 )
1983
38
Anaesthetic management in sclerosteosis. A case report. ( 7064030 )
1982
39
Sclerosteosis in old age. ( 7404164 )
1980
40
Sclerosteosis in South Africa. ( 223247 )
1979
41
Endocrine function in sclerosteosis. ( 225834 )
1979
42
Sclerosteosis in children. ( 471562 )
1979
43
Sclerosteosis. ( 483076 )
1979
44
Sclerosteosis - an autosomal recessive disorder. ( 187366 )
1977
45
The radiology of sclerosteosis. ( 188507 )
1976
46
The clinical features of sclerosteosis. A review of the manifestations in twenty-five affected individuals. ( 1259284 )
1976
47
Sclerosteosis. A case report. ( 163261 )
1975

Variations for Sclerosteosis

Expression for Sclerosteosis

Search GEO for disease gene expression data for Sclerosteosis.

Pathways for Sclerosteosis

Pathways related to Sclerosteosis according to KEGG:

37
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

GO Terms for Sclerosteosis

Cellular components related to Sclerosteosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.73 COL1A1 FGF1 GREM1 GREM2 NOG SOST
2 extracellular region GO:0005576 9.7 COL1A1 FGF1 GREM1 GREM2 LRP6 NOG
3 Wnt signalosome GO:1990909 8.96 LRP5 LRP6
4 Wnt-Frizzled-LRP5/6 complex GO:1990851 8.62 LRP5 LRP6

Biological processes related to Sclerosteosis according to GeneCards Suite gene sharing:

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.95 FGF1 GREM1 LRP5 RUNX2
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.91 FGF1 GREM1 LRP5 LRP6 NOG RUNX2
3 multicellular organism development GO:0007275 9.87 FGF1 GREM2 LRP4 LRP5 LRP6 NOG
4 endocytosis GO:0006897 9.81 LRP4 LRP5 LRP6
5 Wnt signaling pathway GO:0016055 9.81 LRP4 LRP5 LRP6 SOST
6 osteoblast differentiation GO:0001649 9.74 COL1A1 NOG RUNX2
7 ossification GO:0001503 9.73 COL1A1 RUNX2 SOST
8 skeletal system development GO:0001501 9.73 COL1A1 NOG RUNX2 VDR
9 positive regulation of transcription, DNA-templated GO:0045893 9.73 COL1A1 GREM1 LRP5 LRP6 RUNX2 SOST
10 odontogenesis of dentin-containing tooth GO:0042475 9.71 LRP4 LRP6 RUNX2
11 embryonic limb morphogenesis GO:0030326 9.7 GREM1 LRP4 LRP6
12 collagen fibril organization GO:0030199 9.67 COL1A1 GREM1
13 skeletal system morphogenesis GO:0048705 9.67 COL1A1 RUNX2
14 dorsal/ventral pattern formation GO:0009953 9.67 LRP4 NOG
15 embryonic skeletal system development GO:0048706 9.66 COL1A1 NOG
16 toxin transport GO:1901998 9.66 LRP5 LRP6
17 cellular response to BMP stimulus GO:0071773 9.65 NOG RUNX2
18 bone morphogenesis GO:0060349 9.65 LRP5 LRP6
19 negative regulation of osteoblast differentiation GO:0045668 9.65 GREM1 LRP5 NOG
20 negative regulation of protein serine/threonine kinase activity GO:0071901 9.64 LRP5 LRP6
21 endochondral ossification GO:0001958 9.63 COL1A1 RUNX2
22 proximal/distal pattern formation GO:0009954 9.63 GREM1 LRP4
23 limb development GO:0060173 9.63 GREM1 LRP4 NOG
24 negative regulation of ossification GO:0030279 9.62 LRP4 SOST
25 gastrulation with mouth forming second GO:0001702 9.62 LRP5 LRP6
26 osteoblast development GO:0002076 9.61 LRP5 RUNX2
27 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.61 GREM1 NOG
28 bone remodeling GO:0046849 9.59 LRP5 LRP6
29 branching involved in mammary gland duct morphogenesis GO:0060444 9.58 LRP5 LRP6
30 negative regulation of pathway-restricted SMAD protein phosphorylation GO:0060394 9.58 GREM1 NOG
31 face morphogenesis GO:0060325 9.58 COL1A1 LRP6 NOG
32 determination of dorsal identity GO:0048263 9.55 GREM1 GREM2
33 ureteric bud formation GO:0060676 9.49 GREM1 NOG
34 BMP signaling pathway GO:0030509 9.46 GREM2 LRP4 NOG RUNX2
35 negative regulation of BMP signaling pathway GO:0030514 9.26 GREM1 GREM2 NOG SOST
36 negative regulation of canonical Wnt signaling pathway GO:0090090 9.02 GREM1 LRP4 LRP6 NOG SOST
37 cell differentiation GO:0030154 10 FGF1 LRP4 NOG RUNX2 VDR

Molecular functions related to Sclerosteosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.72 GREM1 GREM2 LRP4 LRP6 NOG
2 heparin binding GO:0008201 9.61 FGF1 GREM2 SOST
3 Wnt-protein binding GO:0017147 9.46 LRP5 LRP6
4 Wnt-activated receptor activity GO:0042813 9.4 LRP5 LRP6
5 apolipoprotein binding GO:0034185 9.37 LRP4 LRP6
6 BMP binding GO:0036122 9.26 GREM1 GREM2
7 toxin transmembrane transporter activity GO:0019534 9.16 LRP5 LRP6
8 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 8.96 LRP5 LRP6
9 coreceptor activity involved in Wnt signaling pathway GO:0071936 8.62 LRP5 LRP6

Sources for Sclerosteosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....