MCID: SCL048
MIFTS: 46

Sclerosteosis

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

Aliases & Classifications for Sclerosteosis

MalaCards integrated aliases for Sclerosteosis:

Name: Sclerosteosis 12 50 56 29 13 52 42 14 69
Cortical Hyperostosis-Syndactyly Syndrome 56
Cortical Hyperostosis with Syndactyly 50
Sost 50

Characteristics:

Orphanet epidemiological data:

56
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 42 C537525
SNOMED-CT 64 17568006
Orphanet 56 ORPHA3152
MESH via Orphanet 43 C537525
UMLS via Orphanet 70 C0265301
ICD10 via Orphanet 34 M85.2
UMLS 69 C0265301

Summaries for Sclerosteosis

NIH Rare Diseases : 50 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 sclerosteosis 2 and sclerosteosis 1, and has symptoms including optic atrophy, ptosis and tall stature. An important gene associated with Sclerosteosis is SOST (Sclerostin), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling. Affiliated tissues include bone, and related phenotypes are homeostasis/metabolism and growth/size/body region

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:

56 32 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
2 ptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000508
3 tall stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0000098
4 sensorineural hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000407
5 facial palsy 56 32 frequent (33%) Frequent (79-30%) HP:0010628
6 2-3 finger syndactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001233
7 diaphyseal thickening 56 32 hallmark (90%) Very frequent (99-80%) HP:0005019
8 increased bone mineral density 56 32 hallmark (90%) Very frequent (99-80%) HP:0011001
9 craniofacial hyperostosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0004493
10 abnormal cortical bone morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0003103
11 abnormality of the nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0000366
12 fingernail dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0100798
13 curved distal phalanges of the hand 56 32 hallmark (90%) Very frequent (99-80%) HP:0009838
14 finger syndactyly 56 Very frequent (99-80%)

UMLS symptoms related to Sclerosteosis:


unspecified visual loss

MGI Mouse Phenotypes related to Sclerosteosis:

44 (show all 16)
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.22 COL1A1 FGF1 GREM1 GREM2 LRP4 LRP5
2 growth/size/body region MP:0005378 10.19 COL1A1 GREM1 GREM2 LRP4 LRP5 LRP6
3 cellular MP:0005384 10.16 LRP4 LRP5 LRP6 NOG RUNX2 VDR
4 craniofacial MP:0005382 10.15 LRP5 LRP6 NOG RUNX2 VDR COL1A1
5 limbs/digits/tail MP:0005371 10.09 COL1A1 GREM1 LRP4 LRP5 LRP6 NOG
6 nervous system MP:0003631 10.06 VDR LRP4 LRP5 LRP6 NOG RUNX2
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 SOST COL1A1 FGF1 LRP5 LRP6 NOG
12 renal/urinary system MP:0005367 9.8 COL1A1 GREM1 LRP4 LRP6 NOG VDR
13 reproductive system MP:0005389 9.8 COL1A1 GREM1 LRP4 LRP6 NOG RUNX2
14 skeleton MP:0005390 9.65 COL1A1 GREM1 GREM2 LRP4 LRP5 LRP6
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

Genetic tests related to Sclerosteosis:

id Genetic test Affiliating Genes
1 Sclerosteosis 29

Anatomical Context for Sclerosteosis

MalaCards organs/tissues related to Sclerosteosis:

39
Bone

Publications for Sclerosteosis

Articles related to Sclerosteosis:

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

Variations for Sclerosteosis

ClinVar genetic disease variations for Sclerosteosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SOST NM_025237.2(SOST): c.70C> T (p.Gln24Ter) single nucleotide variant Pathogenic rs387906320 GRCh37 Chromosome 17, 41836040: 41836040
2 SOST SOST, IVS1DS, A-T, +3 AND/OR IVS1AS, A-C, -67 single nucleotide variant Pathogenic
3 SOST NM_025237.2(SOST): c.372G> A (p.Trp124Ter) single nucleotide variant Pathogenic rs104894644 GRCh37 Chromosome 17, 41832980: 41832980
4 SOST NM_025237.2(SOST): c.376C> T (p.Arg126Ter) single nucleotide variant Pathogenic rs104894645 GRCh37 Chromosome 17, 41832976: 41832976

Expression for Sclerosteosis

Search GEO for disease gene expression data for Sclerosteosis.

Pathways for Sclerosteosis

GO Terms for Sclerosteosis

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

id 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)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.95 FGF1 GREM1 LRP5 RUNX2
2 multicellular organism development GO:0007275 9.95 FGF1 GREM2 LRP4 LRP5 LRP6 NOG
3 positive regulation of transcription from RNA polymerase II promoter 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 skeletal system morphogenesis GO:0048705 9.67 COL1A1 RUNX2
14 limb development GO:0060173 9.67 GREM1 LRP4 NOG
15 dorsal/ventral pattern formation GO:0009953 9.66 LRP4 NOG
16 collagen fibril organization GO:0030199 9.66 COL1A1 GREM1
17 embryonic skeletal system development GO:0048706 9.65 COL1A1 NOG
18 cellular response to BMP stimulus GO:0071773 9.65 NOG RUNX2
19 endochondral ossification GO:0001958 9.64 COL1A1 RUNX2
20 negative regulation of protein serine/threonine kinase activity GO:0071901 9.63 LRP5 LRP6
21 proximal/distal pattern formation GO:0009954 9.63 GREM1 LRP4
22 face morphogenesis GO:0060325 9.63 COL1A1 LRP6 NOG
23 beta-catenin destruction complex disassembly GO:1904886 9.62 LRP5 LRP6
24 negative regulation of ossification GO:0030279 9.62 LRP4 SOST
25 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.61 GREM1 NOG
26 osteoblast development GO:0002076 9.61 LRP5 RUNX2
27 regulation of canonical Wnt signaling pathway GO:0060828 9.61 LRP4 LRP5 LRP6
28 negative regulation of pathway-restricted SMAD protein phosphorylation GO:0060394 9.59 GREM1 NOG
29 determination of dorsal identity GO:0048263 9.57 GREM1 GREM2
30 BMP signaling pathway GO:0030509 9.56 GREM2 LRP4 NOG RUNX2
31 negative regulation of canonical Wnt signaling pathway GO:0090090 9.55 GREM1 LRP4 LRP6 NOG SOST
32 ureteric bud formation GO:0060676 9.52 GREM1 NOG
33 negative regulation of osteoblast differentiation GO:0045668 9.51 LRP5 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:

id Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.71 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 transporter activity GO:0019534 9.32 LRP5 LRP6
6 coreceptor activity involved in Wnt signaling pathway GO:0071936 9.26 LRP5 LRP6
7 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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