MCID: SCL048
MIFTS: 46

Sclerosteosis

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

Aliases & Classifications for Sclerosteosis

MalaCards integrated aliases for Sclerosteosis:

Name: Sclerosteosis 12 72 49 55 36 13 51 41 14 69
Cortical Hyperostosis-Syndactyly Syndrome 55
Cortical Hyperostosis with Syndactyly 49
Sost 49

Characteristics:

Orphanet epidemiological data:

55
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 41 C537525
SNOMED-CT 64 17568006
Orphanet 55 ORPHA3152
MESH via Orphanet 42 C537525
UMLS via Orphanet 70 C0265301
ICD10 via Orphanet 33 M85.2
KEGG 36 H00486
UMLS 69 C0265301

Summaries for Sclerosteosis

NIH Rare Diseases : 49 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. Last updated: 3/30/2016

MalaCards based summary : Sclerosteosis, also known as cortical hyperostosis-syndactyly syndrome, is related to van buchem disease and hyperostosis, and has symptoms including tall stature, abnormality of the nose and sensorineural hearing impairment. 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, and related phenotypes are homeostasis/metabolism and cellular

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

Related Diseases for Sclerosteosis

Graphical network of the top 20 diseases related to Sclerosteosis:



Diseases related to Sclerosteosis

Symptoms & Phenotypes for Sclerosteosis

Human phenotypes related to Sclerosteosis:

55 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tall stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0000098
2 abnormality of the nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0000366
3 sensorineural hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000407
4 ptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000508
5 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
6 2-3 finger syndactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001233
7 abnormal cortical bone morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0003103
8 craniofacial hyperostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0004493
9 diaphyseal thickening 55 31 hallmark (90%) Very frequent (99-80%) HP:0005019
10 curved distal phalanges of the hand 55 31 hallmark (90%) Very frequent (99-80%) HP:0009838
11 facial palsy 55 31 frequent (33%) Frequent (79-30%) HP:0010628
12 increased bone mineral density 55 31 hallmark (90%) Very frequent (99-80%) HP:0011001
13 fingernail dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0100798
14 finger syndactyly 55 Very frequent (99-80%)

UMLS symptoms related to Sclerosteosis:


unspecified visual loss

MGI Mouse Phenotypes related to Sclerosteosis:

43 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.22 COL1A1 FGF1 GREM1 GREM2 LRP4 LRP5
2 cellular MP:0005384 10.21 COL1A1 GREM1 LRP4 LRP5 LRP6 NOG
3 growth/size/body region MP:0005378 10.19 LRP4 LRP5 LRP6 NOG RUNX2 SOST
4 craniofacial MP:0005382 10.15 COL1A1 GREM2 LRP4 LRP5 LRP6 NOG
5 limbs/digits/tail MP:0005371 10.09 COL1A1 GREM1 LRP4 LRP5 LRP6 NOG
6 nervous system MP:0003631 10.06 COL1A1 FGF1 GREM1 LRP4 LRP5 LRP6
7 embryo MP:0005380 10 COL1A1 GREM1 LRP4 LRP5 LRP6 NOG
8 endocrine/exocrine gland MP:0005379 9.99 COL1A1 LRP4 LRP5 NOG RUNX2 VDR
9 digestive/alimentary MP:0005381 9.93 COL1A1 LRP6 NOG RUNX2 VDR
10 integument MP:0010771 9.93 COL1A1 LRP4 LRP6 NOG RUNX2 VDR
11 normal MP:0002873 9.85 COL1A1 FGF1 LRP5 LRP6 NOG SOST
12 renal/urinary system MP:0005367 9.8 LRP6 NOG VDR COL1A1 GREM1 LRP4
13 reproductive system MP:0005389 9.8 COL1A1 GREM1 LRP4 LRP6 NOG RUNX2
14 skeleton MP:0005390 9.65 LRP4 LRP5 LRP6 NOG RUNX2 SOST
15 respiratory system MP:0005388 9.63 COL1A1 GREM1 LRP4 LRP6 NOG RUNX2
16 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:

38
Bone

Publications for Sclerosteosis

Articles related to Sclerosteosis:

(show all 26)
# Title Authors Year
1
Genetics of Sost/SOST in sclerosteosis and van Buchem disease animal models. ( 29080811 )
2018
2
The Lrp4 R1170Q homozygous knock-in mouse recapitulates the bone phenotype of sclerosteosis in humans. ( 28477420 )
2017
3
A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone. ( 26751728 )
2016
4
A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis. ( 25984533 )
2015
5
Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger. ( 25835322 )
2015
6
Sclerosteosis caused by a novel nonsense mutation of SOST in a consanguineous family. ( 26283468 )
2015
7
Novel SOST gene mutation in a sclerosteosis patient from Morocco: a case report. ( 24594238 )
2014
8
An auditory profile of sclerosteosis. ( 24642276 )
2014
9
Management of trigeminal neuralgia in sclerosteosis. ( 24349870 )
2013
10
Novel SOST gene mutation in a sclerosteosis patient and her parents. ( 23079137 )
2013
11
Cranial Reconstruction for Treatment of Intracranial Hypertension from Sclerosteosis: Case-Based Update. ( 23182730 )
2012
12
Patients with sclerosteosis and disease carriers: human models of the effect of sclerostin on bone turnover. ( 21786318 )
2011
13
First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function. ( 20583295 )
2010
14
A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin. ( 19072561 )
2008
15
Bone mineral density in sclerosteosis; affected individuals and gene carriers. ( 16189254 )
2005
16
Identification of the disease-causing gene in sclerosteosis--discovery of a novel bone anabolic target? ( 15615113 )
2004
17
Unique regulation of SOST, the sclerosteosis gene, by BMPs and steroid hormones in human osteoblasts. ( 15268896 )
2004
18
Cbfa1/RUNX2 directs specific expression of the sclerosteosis gene (SOST). ( 14739291 )
2004
19
Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites. ( 15514891 )
2004
20
The natural history of sclerosteosis. ( 12694228 )
2003
21
Dental and oral manifestations of sclerosteosis. ( 11570544 )
2001
22
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. ( 11179006 )
2001
23
Syndactyly/brachyphalangy and nail dysplasias as marker lesions for sclerosteosis. ( 11385236 )
2001
24
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). ( 11181578 )
2001
25
Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21. ( 10330353 )
1999
26
The syndromic status of sclerosteosis and van Buchem disease. ( 6323069 )
1984

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:

36
# 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 9.8 COL1A1 FGF1 GREM1 GREM2 NOG SOST
2 extracellular region GO:0005576 9.8 COL1A1 FGF1 GREM1 GREM2 LRP6 NOG
3 Wnt signalosome GO:1990909 9.16 LRP5 LRP6
4 Wnt-Frizzled-LRP5/6 complex GO:1990851 8.96 LRP5 LRP6
5 receptor complex GO:0043235 8.92 LRP4 LRP5 LRP6 VDR

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.95 FGF1 GREM2 LRP4 LRP5 LRP6 NOG
2 positive regulation of cell proliferation GO:0008284 9.94 FGF1 GREM1 LRP5 RUNX2
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.87 FGF1 GREM1 LRP5 LRP6 NOG RUNX2
4 Wnt signaling pathway GO:0016055 9.85 LRP4 LRP5 LRP6 SOST
5 positive regulation of transcription, DNA-templated GO:0045893 9.85 COL1A1 GREM1 LRP5 LRP6 RUNX2 SOST
6 endocytosis GO:0006897 9.81 LRP4 LRP5 LRP6
7 skeletal system development GO:0001501 9.78 COL1A1 NOG RUNX2 VDR
8 osteoblast differentiation GO:0001649 9.77 COL1A1 NOG RUNX2
9 ossification GO:0001503 9.76 COL1A1 RUNX2 SOST
10 embryonic digit morphogenesis GO:0042733 9.75 LRP4 LRP5 NOG
11 odontogenesis of dentin-containing tooth GO:0042475 9.73 LRP4 LRP6 RUNX2
12 response to peptide hormone GO:0043434 9.71 COL1A1 LRP5 LRP6
13 negative regulation of osteoblast differentiation GO:0045668 9.69 GREM1 LRP5 NOG
14 skeletal system morphogenesis GO:0048705 9.67 COL1A1 RUNX2
15 limb development GO:0060173 9.67 GREM1 LRP4 NOG
16 collagen fibril organization GO:0030199 9.66 COL1A1 GREM1
17 dorsal/ventral pattern formation GO:0009953 9.66 LRP4 NOG
18 embryonic skeletal system development GO:0048706 9.65 COL1A1 NOG
19 cellular response to BMP stimulus GO:0071773 9.65 NOG RUNX2
20 negative regulation of protein serine/threonine kinase activity GO:0071901 9.65 LRP5 LRP6
21 endochondral ossification GO:0001958 9.63 COL1A1 RUNX2
22 proximal/distal pattern formation GO:0009954 9.63 GREM1 LRP4
23 face morphogenesis GO:0060325 9.63 COL1A1 LRP6 NOG
24 beta-catenin destruction complex disassembly GO:1904886 9.62 LRP5 LRP6
25 negative regulation of ossification GO:0030279 9.62 LRP4 SOST
26 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.61 GREM1 NOG
27 osteoblast development GO:0002076 9.61 LRP5 RUNX2
28 regulation of canonical Wnt signaling pathway GO:0060828 9.61 LRP4 LRP5 LRP6
29 negative regulation of pathway-restricted SMAD protein phosphorylation GO:0060394 9.59 GREM1 NOG
30 determination of dorsal identity GO:0048263 9.57 GREM1 GREM2
31 BMP signaling pathway GO:0030509 9.56 GREM2 LRP4 NOG RUNX2
32 negative regulation of canonical Wnt signaling pathway GO:0090090 9.55 GREM1 LRP4 LRP6 NOG SOST
33 ureteric bud formation GO:0060676 9.52 GREM1 NOG
34 negative regulation of BMP signaling pathway GO:0030514 9.26 GREM1 GREM2 NOG SOST
35 Wnt signaling pathway involved in dorsal/ventral axis specification GO:0044332 8.8 LRP4 LRP5 LRP6

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.8 GREM1 GREM2 LRP4 LRP6 NOG
2 heparin binding GO:0008201 9.63 FGF1 GREM2 SOST
3 apolipoprotein binding GO:0034185 9.43 LRP4 LRP6
4 BMP binding GO:0036122 9.37 GREM1 GREM2
5 toxin transmembrane transporter activity GO:0019534 9.32 LRP5 LRP6
6 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 9.26 LRP5 LRP6
7 coreceptor activity involved in Wnt signaling pathway GO:0071936 9.16 LRP5 LRP6
8 Wnt-protein binding GO:0017147 9.13 LRP4 LRP5 LRP6
9 Wnt-activated receptor activity GO:0042813 8.8 LRP4 LRP5 LRP6

Sources for Sclerosteosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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