SOST
MCID: SCL048
MIFTS: 58

Sclerosteosis (SOST)

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

Aliases & Classifications for Sclerosteosis

MalaCards integrated aliases for Sclerosteosis:

Name: Sclerosteosis 12 74 20 58 36 54 44 15 39 71
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:

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 72 C0265301
Orphanet 58 ORPHA3152
UMLS 71 C0265301

Summaries for Sclerosteosis

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: 3152DefinitionSclerosteosis 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.

Wikipedia : 74 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 top 50) (show all 156)
# 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 31.5 TNFSF11 SOST DKK1
7 osteomalacia 31.5 VDR SOST PTH BGLAP
8 osteogenesis imperfecta, type vi 31.5 SOST COL1A1
9 renal osteodystrophy 31.3 VDR TNFSF11 SOST PTH BGLAP
10 primary hyperparathyroidism 31.3 VDR TNFSF11 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 chromosome 2q35 duplication syndrome 31.0 SOST NOG LRP4 GREM1
16 chronic kidney disease 30.9 VDR TNFSF11 TGFB1 SOST RUNX2 PTH
17 connective tissue disease 30.9 TNFSF11 SOST RUNX2 PTH COL1A1 BGLAP
18 facial paralysis 30.8 TGFB1 SOST LRP5
19 hyperostosis 30.8 TGFB1 SOST LRP5 LRP4 COL1A1
20 bone development disease 30.7 SP7 SOST RUNX2 PTH NOG COL1A1
21 diabetes mellitus 30.6 VDR TNFSF11 TGFB1 SOST PTH LRP5
22 ischemic bone disease 30.4 TNFSF11 SP7 SOST RUNX2 PTH DKK1
23 van buchem disease 30.3 VDR TNFSF11 TGFB1 SP7 SOST RUNX2
24 type 2 diabetes mellitus 30.3 VDR TNFSF11 TGFB1 SOST RUNX2 LRP6
25 osteoporosis, juvenile 30.2 TNFSF11 SP7 SOST RUNX2 PTH LRP5
26 osteopetrosis 30.1 TNFSF11 RUNX2 LRP5 BGLAP
27 brittle bone disorder 30.0 TNFSF11 SP7 SOST RUNX2 PTH LRP6
28 cenani-lenz syndactyly syndrome 29.9 SOST LRP6 LRP5 LRP4-AS1 LRP4
29 bone remodeling disease 29.9 VDR TNFSF11 SP7 SOST RUNX2 PTH
30 periodontitis 29.8 VDR TNFSF11 RUNX2 BGLAP
31 osteoporosis 29.8 VDR TNFSF11 TGFB1 SP7 SOST RUNX2
32 spondyloarthropathy 1 29.7 TNFSF11 PTH BGLAP
33 odontochondrodysplasia 29.6 TNFSF11 SP7 SOST RUNX2 PTH LRP6
34 osteogenic sarcoma 29.4 TNFSF11 SP7 RUNX2 PTH BGLAP
35 glucocorticoid-induced osteoporosis 29.3 VDR TNFSF11 RUNX2 PTH DKK1 BGLAP
36 ankylosis 29.3 TNFSF11 TGFB1 SP7 RUNX2 NOG BGLAP
37 bone resorption disease 28.8 VDR TNFSF11 SP7 SOST RUNX2 PTH
38 bone disease 28.5 VDR TNFSF11 SP7 SOST RUNX2 PTH
39 craniodiaphyseal dysplasia, autosomal dominant 11.3
40 exostosis 10.8
41 pycnodysostosis 10.8
42 hypophosphatemic rickets, x-linked dominant 10.8
43 autosomal recessive hypophosphatemic rickets 10.8
44 facial nerve disease 10.8
45 sost-related sclerosing bone dysplasias 10.5
46 myasthenic syndrome, congenital, 17 10.4 LRP4-AS1 LRP4
47 chiari malformation type i 10.4 LRP4 DKK1
48 chiari malformation 10.4 LRP4 DKK1
49 overgrowth syndrome 10.3
50 bone mineral density quantitative trait locus 8 10.3

Graphical network of the top 20 diseases related to Sclerosteosis:



Diseases related to Sclerosteosis

Symptoms & Phenotypes for Sclerosteosis

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

Drugs & Therapeutics for Sclerosteosis

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

Genetic Tests for Sclerosteosis

Anatomical Context for Sclerosteosis

MalaCards organs/tissues related to Sclerosteosis:

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

Publications for Sclerosteosis

Articles related to Sclerosteosis:

(show top 50) (show all 801)
# Title Authors PMID Year
1
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. 61 6 54
11179006 2001
2
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). 54 61 6
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. 6 61
11385236 2001
5
Sclerosteosis: report of a case in a black African man. 61 6
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. 54 61
19072561 2008
9
Osteocyte-derived sclerostin inhibits bone formation: its role in bone morphogenetic protein and Wnt signaling. 61 54
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. 61 54
17052975 2006
12
Bone mineral density in sclerosteosis; affected individuals and gene carriers. 54 61
16189254 2005
13
SOST is a target gene for PTH in bone. 54 61
15946907 2005
14
SOST is a ligand for LRP5/LRP6 and a Wnt signaling inhibitor. 61 54
15908424 2005
15
SOST/sclerostin, an osteocyte-derived negative regulator of bone formation. 54 61
15869900 2005
16
A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. 61 54
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. 61 54
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]. 54 61
15576958 2004
26
Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia? 54 61
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
NRF2 function in osteocytes is required for bone homeostasis and drives osteocytic gene expression. 61
33373776 2021
30
Myostatin and markers of bone metabolism in dermatomyositis. 61
33546660 2021
31
Co-deletion of Lrp5 and Lrp6 in the skeleton severely diminishes bone gain from sclerostin antibody administration. 61
33164872 2021
32
Inhibited microRNA-218-5p attenuates synovial inflammation and cartilage injury in rats with knee osteoarthritis by promoting sclerostin. 61
33316267 2021
33
Mechanically Driven Counter-Regulation of Cortical Bone Formation in Response to Sclerostin-Neutralizing Antibodies. 61
33049076 2021
34
In vitro biological response of human osteoblasts in 3D chitosan sponges with controlled degree of deacetylation and molecular weight. 61
33357907 2021
35
Tissue-specific mesenchymal stem cell-dependent osteogenesis in highly porous chitosan-based bone analogs. 61
33049125 2021
36
Mountain Bike Racing Stimulates Osteogenic Bone Signaling and Ingesting Carbohydrate-Protein Compared With Carbohydrate-Only Prevents Acute Recovery Bone Resorption Dominance. 61
33337693 2021
37
Fructus Ligustri Lucidi preserves bone quality through induction of canonical Wnt/β-catenin signaling pathway in ovariectomized rats. 61
32755017 2021
38
Epigenetic therapies of osteoporosis. 61
33031975 2021
39
The Possible Role of Sclerostin in the Pathogenesis of Tympanosclerosis. 61
33508832 2021
40
Methylation of the Sclerostin (SOST) Gene in Serum Free DNA: A New Bone Biomarker? 61
33372860 2021
41
Genetics and Genomics of SOST: Functional Analysis of Variants and Genomic Regulation in Osteoblasts. 61
33419004 2021
42
Serum levels of leptin, osteopontin, and sclerostin in patients with and without knee osteoarthritis. 61
32588275 2021
43
Mechanical stress regulates bone regulatory gene expression independent of estrogen and vitamin D deficiency in rats. 61
32530517 2021
44
The effects of decontamination methods of dental implant surface on cytokine expression analysis in the reconstructive surgical treatment of peri-implantitis. 61
32314079 2021
45
Icariin Promotes the Osteogenesis of Bone Marrow Mesenchymal Stem Cells through Regulating Sclerostin and Activating the Wnt/β-Catenin Signaling Pathway. 61
33553429 2021
46
Identification of Sclerostin as a Putative New Myokine Involved in the Muscle-to-Bone Crosstalk. 61
33445754 2021
47
Sclerostin Regulation, Microarchitecture, and Advanced Glycation End-Products in the Bone of Elderly Women With Type 2 Diabetes. 61
32777114 2020
48
Cortical bone adaptation to a moderate level of mechanical loading in male Sost deficient mice. 61
33339872 2020
49
Mechanical strain-mediated reduction in RANKL expression is associated with RUNX2 and BRD2. 61
32550554 2020
50
Hydrophilic titanium surface modulates early stages of osseointegration in osteoporosis. 61
33368275 2020

Variations for Sclerosteosis

ClinVar genetic disease variations for Sclerosteosis:

6 (show top 50) (show all 231)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SOST NM_025237.3(SOST):c.70C>T (p.Gln24Ter) SNV Pathogenic 4783 rs387906320 17:41836040-41836040 17:43758672-43758672
2 SOST SOST, IVS1DS, A-T, +3 AND/OR IVS1AS, A-C, -67 SNV Pathogenic 4784
3 SOST NM_025237.3(SOST):c.372G>A (p.Trp124Ter) SNV Pathogenic 4785 rs104894644 17:41832980-41832980 17:43755612-43755612
4 SOST NM_025237.3(SOST):c.376C>T (p.Arg126Ter) SNV Pathogenic 4786 rs104894645 17:41832976-41832976 17:43755608-43755608
5 LRP4 NM_002334.4(LRP4):c.3557G>C (p.Trp1186Ser) SNV Pathogenic 30410 rs387906883 11:46897497-46897497 11:46875946-46875946
6 LRP4 NM_002334.4(LRP4):c.3508C>T (p.Arg1170Trp) SNV Pathogenic 30411 rs387906884 11:46898045-46898045 11:46876494-46876494
7 LRP4 NM_002334.4(LRP4):c.2866G>T (p.Glu956Ter) SNV Pathogenic 576661 rs1565785959 11:46900815-46900815 11:46879264-46879264
8 LRP4 NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) SNV Conflicting interpretations of pathogenicity 282957 rs149082597 11:46880592-46880592 11:46859041-46859041
9 LRP4 NM_002334.4(LRP4):c.5182A>G (p.Ile1728Val) SNV Uncertain significance 288220 rs148865136 11:46886060-46886060 11:46864509-46864509
10 LRP4 NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser) SNV Uncertain significance 467788 rs771126504 11:46897013-46897013 11:46875462-46875462
11 LRP4 NM_002334.4(LRP4):c.3255_3256delinsAC (p.Ile1086Leu) Indel Uncertain significance 467786 rs1555172311 11:46898771-46898772 11:46877220-46877221
12 LRP4 NM_002334.4(LRP4):c.299C>T (p.Ser100Leu) SNV Uncertain significance 467785 rs762837686 11:46921830-46921830 11:46900279-46900279
13 SOST NM_025237.3(SOST):c.153G>A (p.Glu51=) SNV Uncertain significance 323440 rs150640883 17:41835957-41835957 17:43758589-43758589
14 SOST NM_025237.3(SOST):c.533A>G (p.Glu178Gly) SNV Uncertain significance 323437 rs886052980 17:41832819-41832819 17:43755451-43755451
15 LRP4 NM_002334.4(LRP4):c.4505A>C (p.Asp1502Ala) SNV Uncertain significance 467790 rs200506943 11:46894729-46894729 11:46873178-46873178
16 SOST NM_025237.3(SOST):c.461C>T (p.Pro154Leu) SNV Uncertain significance 323438 rs760883576 17:41832891-41832891 17:43755523-43755523
17 SOST NM_025237.3(SOST):c.*314C>G SNV Uncertain significance 323435 rs765892196 17:41832396-41832396 17:43755028-43755028
18 SOST NM_025237.3(SOST):c.*140A>G SNV Uncertain significance 323436 rs886052979 17:41832570-41832570 17:43755202-43755202
19 SOST NM_025237.3(SOST):c.328G>A (p.Gly110Ser) SNV Uncertain significance 323439 rs886052981 17:41833024-41833024 17:43755656-43755656
20 SOST NM_025237.3(SOST):c.*1529T>C SNV Uncertain significance 323425 rs182899606 17:41831181-41831181 17:43753813-43753813
21 SOST NM_025237.3(SOST):c.*1176A>G SNV Uncertain significance 323431 rs886052978 17:41831534-41831534 17:43754166-43754166
22 LRP4 NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly) SNV Uncertain significance 304845 rs377204138 11:46880602-46880602 11:46859051-46859051
23 LRP4 NM_002334.4(LRP4):c.505G>A (p.Gly169Ser) SNV Uncertain significance 535797 rs201585639 11:46920980-46920980 11:46899429-46899429
24 LRP4 NM_002334.4(LRP4):c.1130A>G (p.Gln377Arg) SNV Uncertain significance 535798 rs139006210 11:46917488-46917488 11:46895937-46895937
25 LRP4 NM_002334.4(LRP4):c.1001T>G (p.Val334Gly) SNV Uncertain significance 535799 rs767110056 11:46917808-46917808 11:46896257-46896257
26 LRP4 NM_002334.4(LRP4):c.1255T>G (p.Trp419Gly) SNV Uncertain significance 535800 rs1032020389 11:46916771-46916771 11:46895220-46895220
27 LRP4 NM_002334.4(LRP4):c.2746C>T (p.Arg916Cys) SNV Uncertain significance 535801 rs147259655 11:46903321-46903321 11:46881770-46881770
28 LRP4 NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys) SNV Uncertain significance 304888 rs143207358 11:46916245-46916245 11:46894694-46894694
29 LRP4 NM_002334.4(LRP4):c.539A>G (p.Glu180Gly) SNV Uncertain significance 535802 rs201957426 11:46920946-46920946 11:46899395-46899395
30 LRP4 NM_002334.4(LRP4):c.3428C>T (p.Thr1143Met) SNV Uncertain significance 535803 rs751933622 11:46898125-46898125 11:46876574-46876574
31 LRP4 NM_002334.4(LRP4):c.3407G>A (p.Arg1136Gln) SNV Uncertain significance 281554 rs61736853 11:46898146-46898146 11:46876595-46876595
32 LRP4 NM_002334.4(LRP4):c.1126G>A (p.Val376Met) SNV Uncertain significance 467778 rs1243051904 11:46917492-46917492 11:46895941-46895941
33 LRP4 NM_002334.4(LRP4):c.5054G>A (p.Arg1685Gln) SNV Uncertain significance 467792 rs138238230 11:46889563-46889563 11:46868012-46868012
34 LRP4 NM_002334.4(LRP4):c.4516C>T (p.Arg1506Trp) SNV Uncertain significance 567349 rs766025454 11:46894718-46894718 11:46873167-46873167
35 LRP4 NM_002334.4(LRP4):c.4102T>C (p.Ser1368Pro) SNV Uncertain significance 567452 rs1565782170 11:46896478-46896478 11:46874927-46874927
36 LRP4 NM_002334.4(LRP4):c.2387C>A (p.Thr796Asn) SNV Uncertain significance 567984 rs753109967 11:46907913-46907913 11:46886362-46886362
37 LRP4 NM_002334.4(LRP4):c.4990A>G (p.Met1664Val) SNV Uncertain significance 569474 rs1455143794 11:46889627-46889627 11:46868076-46868076
38 LRP4 NM_002334.4(LRP4):c.5194C>T (p.Leu1732Phe) SNV Uncertain significance 569902 rs1447336134 11:46886048-46886048 11:46864497-46864497
39 LRP4 NM_002334.4(LRP4):c.3830G>A (p.Arg1277His) SNV Uncertain significance 189821 rs746136135 11:46897102-46897102 11:46875551-46875551
40 LRP4 NM_002334.4(LRP4):c.851G>A (p.Arg284His) SNV Uncertain significance 572607 rs369307795 11:46918491-46918491 11:46896940-46896940
41 LRP4 NM_002334.4(LRP4):c.4144C>T (p.Pro1382Ser) SNV Uncertain significance 573237 rs765240067 11:46896436-46896436 11:46874885-46874885
42 LRP4 NM_002334.4(LRP4):c.4699A>T (p.Arg1567Trp) SNV Uncertain significance 573912 rs199747378 11:46890677-46890677 11:46869126-46869126
43 LRP4 NM_002334.4(LRP4):c.3331G>A (p.Asp1111Asn) SNV Uncertain significance 574779 rs770071302 11:46898328-46898328 11:46876777-46876777
44 LRP4 NM_002334.4(LRP4):c.3581G>A (p.Arg1194Gln) SNV Uncertain significance 575815 rs369916883 11:46897473-46897473 11:46875922-46875922
45 LRP4 NM_002334.4(LRP4):c.2119G>A (p.Gly707Arg) SNV Uncertain significance 576132 rs1382055371 11:46911058-46911058 11:46889507-46889507
46 LRP4 NM_002334.4(LRP4):c.5672C>T (p.Thr1891Met) SNV Uncertain significance 304844 rs372637156 11:46880580-46880580 11:46859029-46859029
47 LRP4 NM_002334.4(LRP4):c.1769G>A (p.Arg590His) SNV Uncertain significance 304882 rs149435615 11:46911974-46911974 11:46890423-46890423
48 LRP4 NM_002334.4(LRP4):c.788G>A (p.Arg263His) SNV Uncertain significance 579316 rs149906323 11:46920117-46920117 11:46898566-46898566
49 LRP4 NM_002334.4(LRP4):c.4154A>G (p.Asn1385Ser) SNV Uncertain significance 581226 rs768733310 11:46896426-46896426 11:46874875-46874875
50 LRP4 NM_002334.4(LRP4):c.1175C>T (p.Thr392Met) SNV Uncertain significance 582098 rs776484311 11:46917443-46917443 11:46895892-46895892

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

Pathways related to Sclerosteosis according to GeneCards Suite gene sharing:

(show all 36)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 SOST LRP6 LRP5 DKK1 CTNNB1
2 12.76 TGFB1 LRP6 LRP5 FGF1 CTNNB1
3
Show member pathways
12.69 TNFSF11 TGFB1 LRP6 LRP5 FGF1 CTNNB1
4
Show member pathways
12.45 TGFB1 NOG DKK1 CTNNB1
5
Show member pathways
12.4 TGFB1 NOG DKK1 CTNNB1
6 12.36 LRP6 LRP5 DKK1 CTNNB1
7 12.23 TGFB1 LRP6 LRP5 GREM1 DKK1 CTNNB1
8 12.13 SOST LRP6 LRP5 DKK1 CTNNB1
9 12.12 TGFB1 LRP6 LRP5 CTNNB1
10
Show member pathways
12.09 TGFB1 LRP6 LRP5 CTNNB1
11 11.87 LRP6 LRP5 DKK1 CTNNB1
12 11.81 TGFB1 NOG GREM2 GREM1
13 11.8 TNFSF11 TGFB1 PTH
14 11.77 TGFB1 GREM1 FGF1
15 11.72 TGFB1 LRP6 LRP5 DKK1 CTNNB1
16 11.71 TGFB1 SP7 RUNX2 PTH NOG BGLAP
17
Show member pathways
11.69 SOSTDC1 RUNX2 NOG GREM2 GREM1
18 11.62 TGFB1 RUNX2 PTH
19 11.6 TGFB1 GREM1 FGF1
20 11.57 TGFB1 RUNX2 NOG CTNNB1
21 11.52 LRP6 LRP5 CTNNB1
22 11.51 TGFB1 NOG DKK1
23 11.45 RUNX2 FGF1 BGLAP
24 11.43 LRP6 DKK1 CTNNB1
25 11.4 TGFB1 RUNX2 BGLAP
26 11.4 TNFSF11 TGFB1 NOG FGF1 DKK1
27 11.29 VDR TNFSF11 RUNX2 PTH COL1A1 BGLAP
28 11.25 VDR TNFSF11 SOST RUNX2 PTH LRP6
29 11.18 LRP6 LRP5 DKK1
30 11.16 LRP6 LRP5 DKK1 CTNNB1
31
Show member pathways
11.03 SOST LRP6 LRP5 DKK1
32 11.02 VDR TNFSF11 RUNX2 PTH COL1A1 BGLAP
33 10.82 TNFSF11 PTH COL1A1 BGLAP
34 10.81 VDR TGFB1
35 10.76 DKK1 CTNNB1
36 10.63 VDR PTH

GO Terms for Sclerosteosis

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 for Sclerosteosis

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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