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SOST
MCID: SCL048
MIFTS: 58

Sclerosteosis (SOST)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Sclerosteosis

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MalaCards integrated aliases for Sclerosteosis:

Name: Sclerosteosis 12 73 20 58 36 54 44 15 39 70
Cortical Hyperostosis-Syndactyly Syndrome 58
Cortical Hyperostosis with Syndactyly 20
Sost 20

Characteristics:

Orphanet epidemiological data:

58
sclerosteosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Neonatal; Age of death: adult;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Bone diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060251
KEGG 36 H00486
MeSH 44 C537525
NCIt 50 C131133
SNOMED-CT 67 17568006
MESH via Orphanet 45 C537525
ICD10 via Orphanet 33 M85.2
UMLS via Orphanet 71 C0265301
Orphanet 58 ORPHA3152
UMLS 70 C0265301
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Summaries for Sclerosteosis

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KEGG : 36 Sclerosteosis is a rare sclerosing bone dysplasias inherited in autosomal recessive manner. The main clinical features are enlargement of the jaw and facial bones, which can lead to secondary findings such as facial distortion, increased intracranial pressure often resulting in headaches, and entrapment of the cranial nerves. Other findings include syndactyly and tall stature. This disease is due to loss-of-function mutations in the SOST gene, a protein that bind to LRP5/6 and antagonize Wnt signaling. Recently, mutations in the LRP4 gene, coding for a Wnt signaling coreceptor, have been found in patients with sclerosteosis.

MalaCards based summary : Sclerosteosis, also known as cortical hyperostosis-syndactyly syndrome, is related to sclerosteosis 2 and sclerosteosis 1, 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 Signaling by Wnt. The drug Diphosphonates has been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and kidney, and related phenotypes are craniofacial hyperostosis and abnormal cortical bone morphology

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.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3152 Definition Sclerosteosis 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.

Wikipedia : 73 Sclerosteosis is an autosomal recessive disorder characterized by bone overgrowth. It was first... more...

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Related Diseases for Sclerosteosis

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Diseases in the Sclerosteosis family:

Sclerosteosis 1 Sclerosteosis 2

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

(show top 50) (show all 157)
# Related Disease Score Top Affiliating Genes
1 sclerosteosis 2 32.9 SOST LRP5 LRP4-AS1 LRP4
2 sclerosteosis 1 32.3 SP7 SOST LRP5 LRP4 DKK1 BGLAP
3 craniodiaphyseal dysplasia 32.1 SOST LRP5 DKK1
4 spondylitis 31.8 TNFSF11 SOST DKK1
5 mccune-albright syndrome 31.7 SOST LRP5 BGLAP
6 kummell's disease 31.6 TNFSF11 SOST DKK1
7 osteogenesis imperfecta, type vi 31.5 SOST COL1A1
8 renal osteodystrophy 31.3 VDR TNFSF11 SOST PTH BGLAP
9 primary hyperparathyroidism 31.3 VDR TNFSF11 SOST PTH BGLAP
10 hypophosphatemic rickets, x-linked dominant 31.1 SOST PTH BGLAP
11 osteoporosis-pseudoglioma syndrome 31.1 SOST RUNX2 LRP6 LRP5 DKK1 CTNNB1
12 paget's disease of bone 31.1 VDR TNFSF11 SOST PTH DKK1 BGLAP
13 endosteal hyperostosis, autosomal dominant 31.1 TNFSF11 SP7 SOST PTH LRP5 COL1A1
14 parathyroid gland disease 31.1 VDR TNFSF11 SOST PTH BGLAP
15 craniometaphyseal dysplasia, autosomal dominant 31.1 TNFSF11 SP7 SOST RUNX2 BGLAP
16 chromosome 2q35 duplication syndrome 31.0 SOST NOG LRP4 GREM1
17 chronic kidney disease 31.0 VDR TNFSF11 TGFB1 SOST RUNX2 PTH
18 connective tissue disease 30.9 TNFSF11 SOST RUNX2 PTH COL1A1 BGLAP
19 facial paralysis 30.8 TGFB1 SOST LRP5
20 hyperostosis 30.8 TGFB1 SOST LRP5 LRP4 COL1A1
21 ankylosis 30.8 TNFSF11 TGFB1 SP7 SOST RUNX2 NOG
22 bone development disease 30.7 SP7 SOST RUNX2 PTH NOG COL1A1
23 diabetes mellitus 30.5 VDR TNFSF11 TGFB1 SOST PTH LRP5
24 type 2 diabetes mellitus 30.5 VDR TNFSF11 TGFB1 SOST RUNX2 LRP6
25 ischemic bone disease 30.4 TNFSF11 SP7 SOST RUNX2 PTH DKK1
26 van buchem disease 30.3 VDR TNFSF11 TGFB1 SP7 SOST RUNX2
27 osteoporosis, juvenile 30.3 TNFSF11 SP7 SOST RUNX2 PTH LRP5
28 osteopetrosis 30.1 TNFSF11 RUNX2 LRP5 BGLAP
29 brittle bone disorder 30.0 TNFSF11 SP7 SOST RUNX2 PTH LRP6
30 cenani-lenz syndactyly syndrome 29.9 SOST LRP6 LRP5 LRP4-AS1 LRP4
31 bone remodeling disease 29.9 VDR TNFSF11 SP7 SOST RUNX2 PTH
32 fibrodysplasia ossificans progressiva 29.9 TGFB1 SP7 NOG
33 periodontitis 29.8 VDR TNFSF11 RUNX2 BGLAP
34 osteoporosis 29.8 VDR TNFSF11 TGFB1 SP7 SOST RUNX2
35 spondyloarthropathy 1 29.7 TNFSF11 PTH BGLAP
36 odontochondrodysplasia 29.6 TNFSF11 SP7 SOST RUNX2 PTH LRP6
37 osteogenic sarcoma 29.4 TNFSF11 SP7 RUNX2 PTH BGLAP
38 glucocorticoid-induced osteoporosis 29.3 VDR TNFSF11 RUNX2 PTH DKK1 BGLAP
39 bone resorption disease 28.8 VDR TNFSF11 SP7 SOST RUNX2 PTH
40 bone disease 28.5 VDR TNFSF11 SP7 SOST RUNX2 PTH
41 craniodiaphyseal dysplasia, autosomal dominant 11.3
42 exostosis 10.8
43 pycnodysostosis 10.8
44 autosomal recessive hypophosphatemic rickets 10.8
45 facial nerve disease 10.8
46 sost-related sclerosing bone dysplasias 10.5
47 myasthenic syndrome, congenital, 17 10.4 LRP4-AS1 LRP4
48 chiari malformation type i 10.4 LRP4 DKK1
49 chiari malformation 10.4 LRP4 DKK1
50 overgrowth syndrome 10.4

Graphical network of the top 20 diseases related to Sclerosteosis:



Diseases related to Sclerosteosis
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Symptoms & Phenotypes for Sclerosteosis

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Human phenotypes related to Sclerosteosis:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 craniofacial hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004493
2 abnormal cortical bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003103
3 diaphyseal thickening 58 31 hallmark (90%) Very frequent (99-80%) HP:0005019
4 increased bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0011001
5 tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0000098
6 abnormality of the nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000366
7 fingernail dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100798
8 2-3 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001233
9 curved distal phalanges of the hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0009838
10 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
11 facial palsy 58 31 frequent (33%) Frequent (79-30%) HP:0010628
12 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
13 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
14 finger syndactyly 58 Very frequent (99-80%)

UMLS symptoms related to Sclerosteosis:


unspecified visual loss

MGI Mouse Phenotypes related to Sclerosteosis:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.5 BGLAP COL1A1 CTNNB1 DKK1 FGF1 GREM1
2 cellular MP:0005384 10.49 BGLAP COL1A1 CTNNB1 DKK1 GREM1 LRP4
3 growth/size/body region MP:0005378 10.45 COL1A1 CTNNB1 DKK1 GREM1 GREM2 LRP4
4 craniofacial MP:0005382 10.43 COL1A1 CTNNB1 DKK1 GREM2 LRP4 LRP5
5 mortality/aging MP:0010768 10.36 COL1A1 CTNNB1 DKK1 GREM1 GREM2 LRP4
6 limbs/digits/tail MP:0005371 10.32 COL1A1 CTNNB1 DKK1 GREM1 LRP4 LRP5
7 endocrine/exocrine gland MP:0005379 10.3 BGLAP COL1A1 CTNNB1 LRP4 LRP5 NOG
8 immune system MP:0005387 10.29 BGLAP COL1A1 CTNNB1 GREM2 LRP5 LRP6
9 hematopoietic system MP:0005397 10.28 BGLAP COL1A1 CTNNB1 FGF1 LRP5 PTH
10 embryo MP:0005380 10.22 COL1A1 CTNNB1 DKK1 GREM1 LRP4 LRP5
11 nervous system MP:0003631 10.22 COL1A1 CTNNB1 DKK1 FGF1 GREM1 LRP4
12 digestive/alimentary MP:0005381 10.18 COL1A1 CTNNB1 LRP6 NOG RUNX2 SOSTDC1
13 integument MP:0010771 10.15 COL1A1 CTNNB1 LRP4 LRP6 NOG RUNX2
14 muscle MP:0005369 10.03 COL1A1 CTNNB1 LRP4 NOG RUNX2 TGFB1
15 normal MP:0002873 10.02 COL1A1 CTNNB1 FGF1 LRP5 LRP6 NOG
16 renal/urinary system MP:0005367 10.02 COL1A1 CTNNB1 DKK1 GREM1 LRP4 LRP6
17 reproductive system MP:0005389 10 BGLAP COL1A1 CTNNB1 GREM1 LRP4 LRP6
18 skeleton MP:0005390 9.91 BGLAP COL1A1 CTNNB1 DKK1 GREM1 GREM2
19 respiratory system MP:0005388 9.9 COL1A1 CTNNB1 DKK1 GREM1 LRP4 LRP6
20 vision/eye MP:0005391 9.4 COL1A1 CTNNB1 DKK1 GREM2 LRP5 LRP6
Sources

Drugs & Therapeutics for Sclerosteosis

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Drugs for Sclerosteosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Diphosphonates

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Assessment of 4 Bone Turnover Markers (C-terminal Telopeptides of Type I Collagene (CTX), Amino-terminal Telopeptide of Type 1 Collagen (NTX), Dickkopf-1 (DKK-1) and Sclerostin (SOST)) in Multiple Myeloma Patients Treated With Intravenous Bisphosphonate Recruiting NCT04111809

Search NIH Clinical Center for Sclerosteosis

Cochrane evidence based reviews: sclerosteosis

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Genetic Tests for Sclerosteosis

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Sources

Anatomical Context for Sclerosteosis

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MalaCards organs/tissues related to Sclerosteosis:

40
Bone, Bone Marrow, Kidney, Prostate, Breast, Spinal Cord, Whole Blood
Sources

Publications for Sclerosteosis

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Articles related to Sclerosteosis:

(show top 50) (show all 807)
# Title Authors PMID Year
1
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. 61 54 6
11179006 2001
2
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). 6 61 54
11181578 2001
3
LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. 61 6
24234652 2014
4
Syndactyly/brachyphalangy and nail dysplasias as marker lesions for sclerosteosis. 61 6
11385236 2001
5
Sclerosteosis: report of a case in a black African man. 6 61
9712543 1998
6
Sclerosteosis in a Spanish male: first report in a person of Mediterranean origin. 6 61
7891385 1994
7
Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function. 6
21471202 2011
8
A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin. 61 54
19072561 2008
9
Osteocyte-derived sclerostin inhibits bone formation: its role in bone morphogenetic protein and Wnt signaling. 54 61
18292354 2008
10
Control of the SOST bone enhancer by PTH using MEF2 transcription factors. 61 54
17696759 2007
11
LRP5 mutations linked to high bone mass diseases cause reduced LRP5 binding and inhibition by SOST. 54 61
17052975 2006
12
Bone mineral density in sclerosteosis; affected individuals and gene carriers. 61 54
16189254 2005
13
SOST is a target gene for PTH in bone. 61 54
15946907 2005
14
SOST is a ligand for LRP5/LRP6 and a Wnt signaling inhibitor. 54 61
15908424 2005
15
SOST/sclerostin, an osteocyte-derived negative regulator of bone formation. 61 54
15869900 2005
16
A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. 54 61
15869924 2005
17
Bone morphogenetic proteins and their antagonists: the sclerostin paradigm. 54 61
16323824 2005
18
Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites. 54 61
15514891 2004
19
Spaciotemporal association and bone morphogenetic protein regulation of sclerostin and osterix expression during embryonic osteogenesis. 61 54
15217980 2004
20
Sclerostin promotes the apoptosis of human osteoblastic cells: a novel regulation of bone formation. 61 54
15454089 2004
21
Unique regulation of SOST, the sclerosteosis gene, by BMPs and steroid hormones in human osteoblasts. 61 54
15268896 2004
22
Identification of the disease-causing gene in sclerosteosis--discovery of a novel bone anabolic target? 61 54
15615113 2004
23
Cbfa1/RUNX2 directs specific expression of the sclerosteosis gene (SOST). 54 61
14739291 2004
24
Sclerostin is an osteocyte-expressed negative regulator of bone formation, but not a classical BMP antagonist. 61 54
15024046 2004
25
[Recent topics on bone remodeling]. 61 54
15576958 2004
26
Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia? 61 54
14564212 2003
27
Lack of association between the SOST gene and bone mineral density in perimenopausal women: analysis of five polymorphisms. 61 54
12398949 2002
28
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. 54 61
11836356 2002
29
Hydrophilic titanium surface modulates early stages of osseointegration in osteoporosis. 61
33368275 2021
30
Leptin reduces in vitro cementoblast mineralization and survival as well as induces PGE2 release by ERK1/2 commitment. 61
32820432 2021
31
NRF2 function in osteocytes is required for bone homeostasis and drives osteocytic gene expression. 61
33373776 2021
32
MicroCT analyses of mouse femoral neck architecture. 61
31437568 2021
33
Disparate bone anabolic cues activate bone formation by regulating the rapid lysosomal degradation of sclerostin protein. 61
33779549 2021
34
PPARG in osteocytes controls sclerostin expression, bone mass, marrow adiposity and mediates TZD-induced bone loss. 61
33722775 2021
35
Molecular Basis for Craniofacial Phenotypes Caused by Sclerostin Deletion. 61
33078679 2021
36
Genotypic Analyses of the Sclerostin rs851056 and Dickkopf rs1569198 Polymorphisms in Mexican-Mestizo Postmenopausal Osteoporosis: A Case-Control Study. 61
33734895 2021
37
Looking for new anabolic treatment from rare diseases of bone formation. 61
33258798 2021
38
Mountain Bike Racing Stimulates Osteogenic Bone Signaling and Ingesting Carbohydrate-Protein Compared With Carbohydrate-Only Prevents Acute Recovery Bone Resorption Dominance. 61
33337693 2021
39
Sclerostin Directly Stimulates Osteocyte Synthesis of Fibroblast Growth Factor-23. 61
33616712 2021
40
Myostatin and markers of bone metabolism in dermatomyositis. 61
33546660 2021
41
Mechanically Driven Counter-Regulation of Cortical Bone Formation in Response to Sclerostin-Neutralizing Antibodies. 61
33049076 2021
42
Inhibited microRNA-218-5p attenuates synovial inflammation and cartilage injury in rats with knee osteoarthritis by promoting sclerostin. 61
33316267 2021
43
An Unanticipated Role for Sphingosine Kinase-2 in Bone and in the Anabolic Effect of Parathyroid Hormone. 61
33640975 2021
44
In vitro biological response of human osteoblasts in 3D chitosan sponges with controlled degree of deacetylation and molecular weight. 61
33357907 2021
45
Co-deletion of Lrp5 and Lrp6 in the skeleton severely diminishes bone gain from sclerostin antibody administration. 61
33164872 2021
46
Tissue-specific mesenchymal stem cell-dependent osteogenesis in highly porous chitosan-based bone analogs. 61
33049125 2021
47
The effects of decontamination methods of dental implant surface on cytokine expression analysis in the reconstructive surgical treatment of peri-implantitis. 61
32314079 2021
48
Icariin Promotes the Osteogenesis of Bone Marrow Mesenchymal Stem Cells through Regulating Sclerostin and Activating the Wnt/β-Catenin Signaling Pathway. 61
33553429 2021
49
Methylation of the Sclerostin (SOST) Gene in Serum Free DNA: A New Bone Biomarker? 61
33372860 2021
50
The Possible Role of Sclerostin in the Pathogenesis of Tympanosclerosis. 61
33508832 2021
Sources

Variations for Sclerosteosis

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ClinVar genetic disease variations for Sclerosteosis:

6 (show top 50) (show all 251)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SOST SOST, IVS1DS, A-T, +3 AND/OR IVS1AS, A-C, -67 SNV Pathogenic 4784 GRCh37:
GRCh38:
2 LRP4 NM_002334.4(LRP4):c.3508C>T (p.Arg1170Trp) SNV Pathogenic 30411 rs387906884 GRCh37: 11:46898045-46898045
GRCh38: 11:46876494-46876494
3 LRP4 NM_002334.4(LRP4):c.2866G>T (p.Glu956Ter) SNV Pathogenic 576661 rs1565785959 GRCh37: 11:46900815-46900815
GRCh38: 11:46879264-46879264
4 SOST NM_025237.3(SOST):c.70C>T (p.Gln24Ter) SNV Pathogenic 4783 rs387906320 GRCh37: 17:41836040-41836040
GRCh38: 17:43758672-43758672
5 SOST NM_025237.3(SOST):c.372G>A (p.Trp124Ter) SNV Pathogenic 4785 rs104894644 GRCh37: 17:41832980-41832980
GRCh38: 17:43755612-43755612
6 SOST NM_025237.3(SOST):c.376C>T (p.Arg126Ter) SNV Pathogenic 4786 rs104894645 GRCh37: 17:41832976-41832976
GRCh38: 17:43755608-43755608
7 LRP4 NM_002334.4(LRP4):c.3557G>C (p.Trp1186Ser) SNV Pathogenic 30410 rs387906883 GRCh37: 11:46897497-46897497
GRCh38: 11:46875946-46875946
8 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) SNV Conflicting interpretations of pathogenicity 282957 rs149082597 GRCh37: 11:46880592-46880592
GRCh38: 11:46859041-46859041
9 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.5182A>G (p.Ile1728Val) SNV Uncertain significance 288220 rs148865136 GRCh37: 11:46886060-46886060
GRCh38: 11:46864509-46864509
10 LRP4 NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser) SNV Uncertain significance 467788 rs771126504 GRCh37: 11:46897013-46897013
GRCh38: 11:46875462-46875462
11 LRP4 NM_002334.4(LRP4):c.3255_3256delinsAC (p.Ile1086Leu) Indel Uncertain significance 467786 rs1555172311 GRCh37: 11:46898771-46898772
GRCh38: 11:46877220-46877221
12 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.4505A>C (p.Asp1502Ala) SNV Uncertain significance 467790 rs200506943 GRCh37: 11:46894729-46894729
GRCh38: 11:46873178-46873178
13 LRP4 NM_002334.4(LRP4):c.1126G>A (p.Val376Met) SNV Uncertain significance 467778 rs1243051904 GRCh37: 11:46917492-46917492
GRCh38: 11:46895941-46895941
14 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.5054G>A (p.Arg1685Gln) SNV Uncertain significance 467792 rs138238230 GRCh37: 11:46889563-46889563
GRCh38: 11:46868012-46868012
15 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly) SNV Uncertain significance 304845 rs377204138 GRCh37: 11:46880602-46880602
GRCh38: 11:46859051-46859051
16 LRP4 NM_002334.4(LRP4):c.1130A>G (p.Gln377Arg) SNV Uncertain significance 535798 rs139006210 GRCh37: 11:46917488-46917488
GRCh38: 11:46895937-46895937
17 LRP4 NM_002334.4(LRP4):c.1001T>G (p.Val334Gly) SNV Uncertain significance 535799 rs767110056 GRCh37: 11:46917808-46917808
GRCh38: 11:46896257-46896257
18 LRP4 NM_002334.4(LRP4):c.1255T>G (p.Trp419Gly) SNV Uncertain significance 535800 rs1032020389 GRCh37: 11:46916771-46916771
GRCh38: 11:46895220-46895220
19 LRP4 NM_002334.4(LRP4):c.2746C>T (p.Arg916Cys) SNV Uncertain significance 535801 rs147259655 GRCh37: 11:46903321-46903321
GRCh38: 11:46881770-46881770
20 LRP4 NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys) SNV Uncertain significance 304888 rs143207358 GRCh37: 11:46916245-46916245
GRCh38: 11:46894694-46894694
21 LRP4 NM_002334.4(LRP4):c.539A>G (p.Glu180Gly) SNV Uncertain significance 535802 rs201957426 GRCh37: 11:46920946-46920946
GRCh38: 11:46899395-46899395
22 LRP4 NM_002334.4(LRP4):c.3407G>A (p.Arg1136Gln) SNV Uncertain significance 281554 rs61736853 GRCh37: 11:46898146-46898146
GRCh38: 11:46876595-46876595
23 LRP4 NM_002334.4(LRP4):c.4154A>G (p.Asn1385Ser) SNV Uncertain significance 581226 rs768733310 GRCh37: 11:46896426-46896426
GRCh38: 11:46874875-46874875
24 LRP4 NM_002334.4(LRP4):c.1175C>T (p.Thr392Met) SNV Uncertain significance 582098 rs776484311 GRCh37: 11:46917443-46917443
GRCh38: 11:46895892-46895892
25 LRP4 NM_002334.4(LRP4):c.2738G>A (p.Gly913Glu) SNV Uncertain significance 582578 rs376848284 GRCh37: 11:46903329-46903329
GRCh38: 11:46881778-46881778
26 LRP4 NM_002334.4(LRP4):c.605G>A (p.Arg202His) SNV Uncertain significance 582703 rs149056824 GRCh37: 11:46920526-46920526
GRCh38: 11:46898975-46898975
27 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.5414_5416AGA[1] (p.Lys1806del) Microsatellite Uncertain significance 582866 rs769465803 GRCh37: 11:46880833-46880835
GRCh38: 11:46859282-46859284
28 LRP4 NM_002334.4(LRP4):c.2626A>C (p.Thr876Pro) SNV Uncertain significance 639435 rs1592529316 GRCh37: 11:46903441-46903441
GRCh38: 11:46881890-46881890
29 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.5259_5267del (p.Lys1753_Asp1756delinsAsn) Deletion Uncertain significance 639677 rs1592509652 GRCh37: 11:46884275-46884283
GRCh38: 11:46862724-46862732
30 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.5101G>A (p.Asp1701Asn) SNV Uncertain significance 645722 rs1241649761 GRCh37: 11:46886724-46886724
GRCh38: 11:46865173-46865173
31 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.4928C>G (p.Pro1643Arg) SNV Uncertain significance 646002 rs767372563 GRCh37: 11:46890174-46890174
GRCh38: 11:46868623-46868623
32 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.4579C>T (p.Arg1527Cys) SNV Uncertain significance 646163 rs756059712 GRCh37: 11:46894655-46894655
GRCh38: 11:46873104-46873104
33 LRP4 NM_002334.4(LRP4):c.2980G>A (p.Val994Ile) SNV Uncertain significance 646493 rs370091369 GRCh37: 11:46900701-46900701
GRCh38: 11:46879150-46879150
34 LRP4 NM_002334.4(LRP4):c.1832G>A (p.Arg611His) SNV Uncertain significance 650564 rs140282454 GRCh37: 11:46911911-46911911
GRCh38: 11:46890360-46890360
35 LRP4 NM_002334.4(LRP4):c.968G>A (p.Arg323His) SNV Uncertain significance 304891 rs745607286 GRCh37: 11:46917841-46917841
GRCh38: 11:46896290-46896290
36 LRP4 NM_002334.4(LRP4):c.1048C>T (p.Arg350Trp) SNV Uncertain significance 651503 rs368744612 GRCh37: 11:46917761-46917761
GRCh38: 11:46896210-46896210
37 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.5426T>A (p.Ile1809Asn) SNV Uncertain significance 651553 rs373162825 GRCh37: 11:46880826-46880826
GRCh38: 11:46859275-46859275
38 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.5378A>C (p.Lys1793Thr) SNV Uncertain significance 651771 rs778676466 GRCh37: 11:46884164-46884164
GRCh38: 11:46862613-46862613
39 LRP4 NM_002334.4(LRP4):c.3839A>G (p.Lys1280Arg) SNV Uncertain significance 653192 rs371205300 GRCh37: 11:46897093-46897093
GRCh38: 11:46875542-46875542
40 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.5126G>C (p.Arg1709Pro) SNV Uncertain significance 657674 rs560103351 GRCh37: 11:46886699-46886699
GRCh38: 11:46865148-46865148
41 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.5669A>G (p.Asp1890Gly) SNV Uncertain significance 659389 rs749482785 GRCh37: 11:46880583-46880583
GRCh38: 11:46859032-46859032
42 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.4544G>C (p.Gly1515Ala) SNV Uncertain significance 659855 rs758635404 GRCh37: 11:46894690-46894690
GRCh38: 11:46873139-46873139
43 LRP4 NM_002334.4(LRP4):c.2009C>T (p.Thr670Met) SNV Uncertain significance 660225 rs752512047 GRCh37: 11:46911578-46911578
GRCh38: 11:46890027-46890027
44 LRP4 NM_002334.4(LRP4):c.826C>T (p.Arg276Cys) SNV Uncertain significance 663838 rs557300271 GRCh37: 11:46918516-46918516
GRCh38: 11:46896965-46896965
45 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.4850G>A (p.Cys1617Tyr) SNV Uncertain significance 664077 rs1592515719 GRCh37: 11:46890252-46890252
GRCh38: 11:46868701-46868701
46 LRP4 NM_002334.4(LRP4):c.65G>T (p.Ser22Ile) SNV Uncertain significance 665829 rs777229906 GRCh37: 11:46924468-46924468
GRCh38: 11:46902917-46902917
47 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.4516C>T (p.Arg1506Trp) SNV Uncertain significance 567349 rs766025454 GRCh37: 11:46894718-46894718
GRCh38: 11:46873167-46873167
48 LRP4 NM_002334.4(LRP4):c.2387C>A (p.Thr796Asn) SNV Uncertain significance 567984 rs753109967 GRCh37: 11:46907913-46907913
GRCh38: 11:46886362-46886362
49 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.4990A>G (p.Met1664Val) SNV Uncertain significance 569474 rs1455143794 GRCh37: 11:46889627-46889627
GRCh38: 11:46868076-46868076
50 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.5194C>T (p.Leu1732Phe) SNV Uncertain significance 569902 rs1447336134 GRCh37: 11:46886048-46886048
GRCh38: 11:46864497-46864497
Sources

Expression for Sclerosteosis

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Search GEO for disease gene expression data for Sclerosteosis.
Sources

Pathways for Sclerosteosis

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Pathways related to Sclerosteosis according to KEGG:

36
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

Pathways related to Sclerosteosis according to GeneCards Suite gene sharing:

(show all 36)
# Super pathways Score Top Affiliating Genes
1
Signaling by Wnt 65
Show member pathways
 12.83 SOST LRP6 LRP5 DKK1 CTNNB1
2
Pathways in cancer 36
12.76 TGFB1 LRP6 LRP5 FGF1 CTNNB1
3
Gastric cancer 36
Show member pathways
 12.69 TNFSF11 TGFB1 LRP6 LRP5 FGF1 CTNNB1
4
Mesodermal Commitment Pathway 1
Show member pathways
 12.45 TGFB1 NOG DKK1 CTNNB1
5
Human Embryonic Stem Cell Pluripotency 63
Show member pathways
 12.4 TGFB1 NOG DKK1 CTNNB1
6
WNT Signaling 63
12.36 LRP6 LRP5 DKK1 CTNNB1
7
Wnt / Hedgehog / Notch 4
12.23 TGFB1 LRP6 LRP5 GREM1 DKK1 CTNNB1
8
Wnt signaling pathway 36
12.14 SOST LRP6 LRP5 DKK1 CTNNB1
9
Colorectal Cancer Metastasis 63
12.12 TGFB1 LRP6 LRP5 CTNNB1
10
MicroRNAs in cardiomyocyte hypertrophy 1
Show member pathways
 12.09 TGFB1 LRP6 LRP5 CTNNB1
11
Reelin Pathway (Cajal-Retzius cells) 63
11.87 LRP6 LRP5 DKK1 CTNNB1
12
TGF-beta signaling pathway (KEGG) 36
11.81 TGFB1 NOG GREM2 GREM1
13
Rheumatoid arthritis 36
11.8 TNFSF11 TGFB1 PTH
14
Angiogenesis (CST) 4
11.77 TGFB1 GREM1 FGF1
15
Primary Focal Segmental Glomerulosclerosis FSGS 1
11.72 TGFB1 LRP6 LRP5 DKK1 CTNNB1
16
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.71 TGFB1 SP7 RUNX2 PTH NOG BGLAP
17
Signaling by BMP 65
Show member pathways
 11.69 SOSTDC1 RUNX2 NOG GREM2 GREM1
18
Endochondral Ossification 1
11.62 TGFB1 RUNX2 PTH
19
Lung fibrosis 1
11.6 TGFB1 GREM1 FGF1
20
TGF-beta Receptor Signaling (WikiPathways) 1
11.57 TGFB1 RUNX2 NOG CTNNB1
21
Wnt Signaling Pathway Netpath 1
11.52 LRP6 LRP5 CTNNB1
22
Cardiac Progenitor Differentiation 1
11.51 TGFB1 NOG DKK1
23
FGF signaling pathway 1
11.45 RUNX2 FGF1 BGLAP
24
Presenilin action in Notch and Wnt signaling 1
11.43 LRP6 DKK1 CTNNB1
25
Interleukin-11 Signaling Pathway 1
11.4 TGFB1 RUNX2 BGLAP
26
Differentiation Pathway 1
11.4 TNFSF11 TGFB1 NOG FGF1 DKK1
27
Transcription_Role of VDR in regulation of genes involved in osteoporosis 23
11.29 VDR TNFSF11 RUNX2 PTH COL1A1 BGLAP
28
Parathyroid hormone synthesis, secretion and action 36
11.25 VDR TNFSF11 SOST RUNX2 PTH LRP6
29
Wnt signaling network 1
11.18 LRP6 LRP5 DKK1
30
Wnt/beta-catenin Signaling Pathway in Leukemia 1
11.16 LRP6 LRP5 DKK1 CTNNB1
31
Negative regulation of TCF-dependent signaling by WNT ligand antagonists 65
Show member pathways
 11.03 SOST LRP6 LRP5 DKK1
32
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
11.02 VDR TNFSF11 RUNX2 PTH COL1A1 BGLAP
33
Osteoblast Signaling 1
10.82 TNFSF11 PTH COL1A1 BGLAP
34
RXR and RAR heterodimerization with other nuclear receptor 1
10.81 VDR TGFB1
35
BMP2-WNT4-FOXO1 Pathway in Human Primary Endometrial Stromal Cell Differentiation 1
10.76 DKK1 CTNNB1
36
Vitamin D Metabolism 1
10.63 VDR PTH
Sources

GO Terms for Sclerosteosis

About this section

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.77 TNFSF11 TGFB1 SOSTDC1 SOST PTH NOG
2 extracellular space GO:0005615 9.4 TNFSF11 TGFB1 SOSTDC1 SOST PTH NOG
3 Wnt signalosome GO:1990909 9.33 LRP6 LRP5 CTNNB1
4 Wnt-Frizzled-LRP5/6 complex GO:1990851 9.26 LRP6 LRP5

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

(show top 50) (show all 65)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.22 VDR TNFSF11 RUNX2 NOG LRP4 FGF1
2 multicellular organism development GO:0007275 10.2 VDR TNFSF11 NOG LRP6 LRP5 LRP4
3 negative regulation of transcription, DNA-templated GO:0045892 10.13 VDR TGFB1 RUNX2 GREM1 CTNNB1
4 positive regulation of cell proliferation GO:0008284 10.13 TGFB1 RUNX2 LRP5 GREM1 FGF1 CTNNB1
5 positive regulation of transcription, DNA-templated GO:0045893 10.13 TGFB1 SOST RUNX2 LRP6 LRP5 GREM1
6 negative regulation of gene expression GO:0010629 10.05 VDR TGFB1 PTH NOG CTNNB1
7 response to drug GO:0042493 10.04 TGFB1 PTH CTNNB1 COL1A1 BGLAP
8 positive regulation of gene expression GO:0010628 10.01 VDR TNFSF11 TGFB1 RUNX2 NOG FGF1
9 animal organ morphogenesis GO:0009887 9.97 VDR TNFSF11 GREM2 GREM1 FGF1
10 positive regulation of DNA-binding transcription factor activity GO:0051091 9.93 TNFSF11 LRP6 LRP5 CTNNB1
11 wound healing GO:0042060 9.93 TGFB1 NOG FGF1 COL1A1
12 cellular calcium ion homeostasis GO:0006874 9.91 VDR TGFB1 PTH
13 ossification GO:0001503 9.91 TNFSF11 SOST RUNX2 COL1A1 BGLAP
14 Wnt signaling pathway GO:0016055 9.91 SOSTDC1 SOST LRP6 LRP5 LRP4 DKK1
15 cell morphogenesis GO:0000902 9.9 VDR TGFB1 GREM1
16 neural tube closure GO:0001843 9.9 TGFB1 NOG LRP6
17 response to nutrient levels GO:0031667 9.89 PTH COL1A1 BGLAP
18 positive regulation of osteoblast differentiation GO:0045669 9.89 RUNX2 LRP5 CTNNB1
19 canonical Wnt signaling pathway GO:0060070 9.89 LRP6 LRP5 CTNNB1
20 cellular response to growth factor stimulus GO:0071363 9.89 TGFB1 CTNNB1 BGLAP
21 osteoblast differentiation GO:0001649 9.89 SP7 RUNX2 NOG COL1A1 BGLAP
22 positive regulation of epithelial cell proliferation GO:0050679 9.88 TGFB1 NOG FGF1
23 response to mechanical stimulus GO:0009612 9.88 SOST COL1A1 BGLAP
24 response to peptide hormone GO:0043434 9.88 LRP6 LRP5 COL1A1
25 negative regulation of cell differentiation GO:0045596 9.87 TGFB1 NOG CTNNB1
26 positive regulation of MAP kinase activity GO:0043406 9.87 TNFSF11 TGFB1 FGF1
27 bone development GO:0060348 9.87 TNFSF11 LRP5 BGLAP
28 negative regulation of Wnt signaling pathway GO:0030178 9.86 SOSTDC1 SOST DKK1
29 negative regulation of osteoblast differentiation GO:0045668 9.86 NOG LRP5 GREM1
30 embryonic limb morphogenesis GO:0030326 9.86 LRP6 LRP4 GREM1
31 embryonic digit morphogenesis GO:0042733 9.86 NOG LRP5 LRP4 CTNNB1
32 positive regulation of epithelial to mesenchymal transition GO:0010718 9.85 TGFB1 CTNNB1 COL1A1
33 epithelial to mesenchymal transition GO:0001837 9.85 TGFB1 NOG CTNNB1
34 BMP signaling pathway GO:0030509 9.85 TGFB1 SOSTDC1 RUNX2 NOG GREM2
35 dorsal/ventral pattern formation GO:0009953 9.84 NOG LRP4 CTNNB1
36 negative regulation of BMP signaling pathway GO:0030514 9.84 SOSTDC1 SOST NOG GREM1
37 T cell differentiation GO:0030217 9.83 TGFB1 RUNX2 CTNNB1
38 osteoclast differentiation GO:0030316 9.81 TNFSF11 TGFB1 CTNNB1
39 proximal/distal pattern formation GO:0009954 9.8 LRP4 GREM1 CTNNB1
40 negative regulation of canonical Wnt signaling pathway GO:0090090 9.8 SOSTDC1 SOST NOG LRP6 LRP4 GREM1
41 bone resorption GO:0045453 9.79 TNFSF11 PTH CTNNB1
42 negative regulation of chondrocyte differentiation GO:0032331 9.79 PTH GREM1 CTNNB1
43 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.78 TGFB1 NOG GREM1
44 face morphogenesis GO:0060325 9.78 TGFB1 NOG LRP6 COL1A1
45 response to vitamin D GO:0033280 9.77 TGFB1 PTH BGLAP
46 osteoblast development GO:0002076 9.77 RUNX2 LRP5 BGLAP
47 regulation of osteoclast differentiation GO:0045670 9.76 TNFSF11 CTNNB1 BGLAP
48 negative regulation of pathway-restricted SMAD protein phosphorylation GO:0060394 9.75 NOG GREM1 DKK1
49 regulation of osteoblast differentiation GO:0045667 9.73 RUNX2 CTNNB1
50 gastrulation with mouth forming second GO:0001702 9.73 LRP5 CTNNB1

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.67 TNFSF11 TGFB1 GREM2 GREM1
2 apolipoprotein binding GO:0034185 9.43 LRP6 LRP4
3 receptor ligand activity GO:0048018 9.43 PTH GREM2 GREM1
4 Wnt-activated receptor activity GO:0042813 9.4 LRP6 LRP5
5 toxin transmembrane transporter activity GO:0019534 9.32 LRP6 LRP5
6 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 9.16 LRP6 LRP5
7 coreceptor activity involved in Wnt signaling pathway GO:0071936 8.96 LRP6 LRP5
8 BMP binding GO:0036122 8.92 SOSTDC1 SOST GREM2 GREM1
Sources

Sources for Sclerosteosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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