SOST
MCID: SCL048
MIFTS: 51

Sclerosteosis (SOST)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Sclerosteosis

MalaCards integrated aliases for Sclerosteosis:

Name: Sclerosteosis 11 19 58 75 53 43 14 38 71
Cortical Hyperostosis-Syndactyly Syndrome 58
Cortical Hyperostosis with Syndactyly 19
Sost 19

Characteristics:


Inheritance:

Autosomal recessive 58

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Childhood,Neonatal 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0060251
MeSH 43 C537525
NCIt 49 C131133
SNOMED-CT 68 17568006
MESH via Orphanet 44 C537525
ICD10 via Orphanet 32 M85.2
UMLS via Orphanet 72 C0265301
Orphanet 58 ORPHA3152
UMLS 71 C0265301

Summaries for Sclerosteosis

GARD: 19 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.

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 Signal Transduction and Signaling by WNT. The drug Diphosphonates has been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and spinal cord, and related phenotypes are craniofacial hyperostosis and abnormal cortical bone morphology

Orphanet: 58 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.

Disease Ontology: 11 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: 75 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 182)
# Related Disease Score Top Affiliating Genes
1 sclerosteosis 2 33.0 SOST LRP5 LRP4
2 sclerosteosis 1 32.7 SP7 SOSTDC1 SOST LRP4 BGLAP
3 craniodiaphyseal dysplasia, autosomal dominant 32.2 SOST LRP6 LRP5 CTNNB1
4 spondylitis 31.8 TNFSF11 SOST DKK1
5 craniodiaphyseal dysplasia 31.8 SP7 SOST SFRP4 LRP5
6 osteogenesis imperfecta, type vi 31.8 TNFSF11 SOST COL1A1
7 osteogenesis imperfecta, type vii 31.7 SOST COL1A1
8 exostosis 31.7 SOST RUNX2 BGLAP
9 osteogenesis imperfecta, type i 31.7 SOST COL1A1 BGLAP
10 osteopathia striata with cranial sclerosis 31.6 SOST LRP6 LRP5
11 pycnodysostosis 31.6 TNFSF11 SOST BGLAP
12 osteitis fibrosa 31.6 SOST PTH BGLAP
13 hyperparathyroidism 31.5 VDR TNFSF11 SOST PTH BGLAP
14 ectodermal dysplasia 13, hair/tooth type 31.5 SOST LRP6 LRP5 CTNNB1
15 osteogenesis imperfecta, type xv 31.5 SOST LRP5
16 hypophosphatemia 31.5 VDR SOST SFRP4 PTH BGLAP
17 osteogenesis imperfecta, type iv 31.5 SP7 SOST DKK1 COL1A1
18 hypophosphatasia, childhood 31.5 SOST COL1A1
19 metaphyseal dysplasia 31.4 SOST SFRP4 RUNX2 PTH
20 diffuse idiopathic skeletal hyperostosis 31.4 SOST PTH DKK1 BGLAP
21 phosphorus metabolism disease 31.4 VDR SOST RUNX2 PTH BGLAP
22 hypophosphatemic rickets, x-linked dominant 31.4 SOST SFRP4 PTH BGLAP
23 osteomalacia 31.3 VDR TNFSF11 SOST SFRP4 PTH BGLAP
24 parathyroid gland disease 31.3 VDR TNFSF11 SOST PTH BGLAP
25 craniometaphyseal dysplasia, autosomal dominant 31.3 TNFSF11 SP7 SOST RUNX2 BGLAP
26 hypophosphatasia 31.3 SOST SFRP4 RUNX2 PTH BGLAP
27 primary hyperparathyroidism 31.2 VDR TNFSF11 SOST PTH COL1A1 BGLAP
28 mineral metabolism disease 31.2 VDR TNFSF11 SOST RUNX2 PTH BGLAP
29 camurati-engelmann disease 31.2 TGFB1 SP7 SOST RUNX2 LRP5 BGLAP
30 mammary paget's disease 31.1 TNFSF11 SP7 SOST RUNX2 PTH BGLAP
31 osteoporosis-pseudoglioma syndrome 31.1 TNFSF11 SP7 SOST LRP6 LRP5 DKK1
32 ischemic bone disease 31.0 TNFSF11 SP7 SOST RUNX2 PTH DKK1
33 hyperostosis 30.9 TGFB1 SOST LRP5 LRP4 COL1A1
34 ankylosis 30.9 TNFSF11 TGFB1 SP7 SOST RUNX2 NOG
35 breast adenocarcinoma 30.9 TNFSF11 SP7 SOST RUNX2 PTH CTNNB1
36 chronic kidney disease 30.9 VDR TNFSF11 TGFB1 SOST SFRP4 RUNX2
37 van buchem disease 30.9 VDR TNFSF11 TGFB1 SP7 SOST SFRP4
38 bone development disease 30.9 TNFSF11 SP7 SOST RUNX2 PTH NOG
39 chromosome 2q35 duplication syndrome 30.9 SOST NOG LRP6 LRP5 LRP4 GREM1
40 diabetes mellitus 30.8 VDR TNFSF11 TGFB1 SOST RUNX2 PTH
41 osteoporosis, juvenile 30.7 TNFSF11 SP7 SOST RUNX2 PTH LRP5
42 glucocorticoid-induced osteoporosis 30.7 TNFSF11 SP7 SOST RUNX2 PTH LRP5
43 connective tissue disease 30.5 TNFSF11 TGFB1 SP7 SOST RUNX2 PTH
44 kidney disease 30.5 VDR TNFSF11 TGFB1 SOST SFRP4 RUNX2
45 bone resorption disease 30.4 VDR TNFSF11 SP7 SOST RUNX2 PTH
46 bone remodeling disease 30.4 VDR TNFSF11 SP7 SOST RUNX2 PTH
47 cenani-lenz syndactyly syndrome 30.4 SOST LRP6 LRP5 LRP4
48 osteopetrosis 30.4 TNFSF11 RUNX2 LRP5 BGLAP
49 brittle bone disorder 30.3 TNFSF11 SP7 SOST SFRP4 RUNX2 PTH
50 osteoarthritis 30.3 TNFSF11 TGFB1 RUNX2 BGLAP

Graphical network of the top 20 diseases related to Sclerosteosis:



Diseases related to Sclerosteosis

Symptoms & Phenotypes for Sclerosteosis

Human phenotypes related to Sclerosteosis:

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

45 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.56 BGLAP COL1A1 CTNNB1 DKK1 FGF1 GREM1
2 growth/size/body region MP:0005378 10.48 COL1A1 CTNNB1 DKK1 GREM1 GREM2 LRP4
3 limbs/digits/tail MP:0005371 10.44 COL1A1 CTNNB1 DKK1 GREM1 LRP4 LRP5
4 nervous system MP:0003631 10.4 COL1A1 CTNNB1 DKK1 FGF1 GREM1 LRP4
5 cellular MP:0005384 10.38 BGLAP COL1A1 CTNNB1 DKK1 GREM1 LRP4
6 endocrine/exocrine gland MP:0005379 10.35 BGLAP COL1A1 CTNNB1 GREM2 LRP4 LRP5
7 craniofacial MP:0005382 10.34 COL1A1 CTNNB1 DKK1 GREM2 LRP4 LRP5
8 renal/urinary system MP:0005367 10.32 COL1A1 CTNNB1 DKK1 GREM1 LRP4 LRP6
9 skeleton MP:0005390 10.3 BGLAP COL1A1 CTNNB1 DKK1 GREM1 GREM2
10 normal MP:0002873 10.25 COL1A1 CTNNB1 FGF1 LRP5 LRP6 NOG
11 immune system MP:0005387 10.25 BGLAP COL1A1 CTNNB1 GREM2 LRP5 LRP6
12 muscle MP:0005369 10.23 COL1A1 CTNNB1 GREM2 LRP4 NOG RUNX2
13 cardiovascular system MP:0005385 10.2 COL1A1 CTNNB1 GREM2 LRP5 NOG PTH
14 embryo MP:0005380 10.18 COL1A1 CTNNB1 DKK1 GREM1 LRP4 LRP5
15 respiratory system MP:0005388 10.18 COL1A1 CTNNB1 DKK1 GREM1 LRP4 LRP6
16 reproductive system MP:0005389 10.18 BGLAP COL1A1 CTNNB1 GREM1 GREM2 LRP4
17 digestive/alimentary MP:0005381 10.16 COL1A1 CTNNB1 LRP6 NOG RUNX2 SFRP4
18 vision/eye MP:0005391 10.03 COL1A1 CTNNB1 DKK1 GREM2 LRP5 LRP6
19 hematopoietic system MP:0005397 9.97 BGLAP COL1A1 CTNNB1 FGF1 GREM2 LRP5
20 mortality/aging MP:0010768 9.89 COL1A1 CTNNB1 DKK1 GREM1 GREM2 LRP4
21 integument MP:0010771 9.28 COL1A1 CTNNB1 LRP4 LRP6 NOG RUNX2

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

Organs/tissues related to Sclerosteosis:

MalaCards : Bone, Bone Marrow, Spinal Cord, Smooth Muscle, Kidney, Prostate, Whole Blood

Publications for Sclerosteosis

Articles related to Sclerosteosis:

(show top 50) (show all 922)
# Title Authors PMID Year
1
A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin. 53 62
19072561 2008
2
Osteocyte-derived sclerostin inhibits bone formation: its role in bone morphogenetic protein and Wnt signaling. 53 62
18292354 2008
3
Control of the SOST bone enhancer by PTH using MEF2 transcription factors. 53 62
17696759 2007
4
LRP5 mutations linked to high bone mass diseases cause reduced LRP5 binding and inhibition by SOST. 53 62
17052975 2006
5
Bone mineral density in sclerosteosis; affected individuals and gene carriers. 53 62
16189254 2005
6
SOST is a target gene for PTH in bone. 53 62
15946907 2005
7
SOST is a ligand for LRP5/LRP6 and a Wnt signaling inhibitor. 53 62
15908424 2005
8
A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. 53 62
15869924 2005
9
SOST/sclerostin, an osteocyte-derived negative regulator of bone formation. 53 62
15869900 2005
10
Bone morphogenetic proteins and their antagonists: the sclerostin paradigm. 53 62
16323824 2005
11
Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites. 53 62
15514891 2004
12
Sclerostin promotes the apoptosis of human osteoblastic cells: a novel regulation of bone formation. 53 62
15454089 2004
13
Spaciotemporal association and bone morphogenetic protein regulation of sclerostin and osterix expression during embryonic osteogenesis. 53 62
15217980 2004
14
Unique regulation of SOST, the sclerosteosis gene, by BMPs and steroid hormones in human osteoblasts. 53 62
15268896 2004
15
Identification of the disease-causing gene in sclerosteosis--discovery of a novel bone anabolic target? 53 62
15615113 2004
16
Cbfa1/RUNX2 directs specific expression of the sclerosteosis gene (SOST). 53 62
14739291 2004
17
Sclerostin is an osteocyte-expressed negative regulator of bone formation, but not a classical BMP antagonist. 53 62
15024046 2004
18
[Recent topics on bone remodeling]. 53 62
15576958 2004
19
Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia? 53 62
14564212 2003
20
Lack of association between the SOST gene and bone mineral density in perimenopausal women: analysis of five polymorphisms. 53 62
12398949 2002
21
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. 53 62
11836356 2002
22
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. 53 62
11179006 2001
23
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). 53 62
11181578 2001
24
Sclerostin is involved in osteogenic transdifferentiation of vascular smooth muscle cells in chronic kidney disease-associated vascular calcification with non-canonical Wnt signaling. 62
36017689 2022
25
Serum sclerostin levels in osteoporotic fracture patients. 62
35705746 2022
26
Directed evolution identifies high-affinity cystine-knot peptide agonists and antagonists of Wnt/β-catenin signaling. 62
36343233 2022
27
Sclerostin antibody promotes bone formation through the Wnt/β-catenin signaling pathway in femoral trochlear after patellar instability. 62
36379907 2022
28
The effects of prostaglandin E2 on gene expression of IDG-SW3-derived osteocytes in 2D and 3D culture. 62
36126467 2022
29
Associations between biomarkers of cellular senescence and physical function in humans: observations from the lifestyle interventions for elders (LIFE) study. 62
36367600 2022
30
Canonical Wnt/β-catenin signaling has positive effects on osteogenesis, but can have negative effects on cementogenesis. 62
35642884 2022
31
Sclerostin ablation prevents aortic valve stenosis in mice. 62
36240434 2022
32
Targeted postnatal knockout of Sclerostin using a bone-targeted adeno-associated viral vector increases bone anabolism and decreases canalicular density. 62
36462771 2022
33
The Warburg effect in osteoporosis: Cellular signaling and epigenetic regulation of energy metabolic events to targeting the osteocalcin for phenotypic alteration. 62
36208706 2022
34
FTY720 administration results in a M2 associated immunoregulatory effect that positively influences the outcome of alveolar bone repair outcome in mice. 62
35902072 2022
35
Wnt/β-catenin signaling pathway is activated in the progress of mandibular condylar cartilage degeneration and subchondral bone loss induced by overloaded functional orthopedic force (OFOF). 62
36262297 2022
36
Potential donor-dependent regulative effects of endogenous sclerostin expression and mineralization potential in primary human PDL cells in vitro. 62
35787444 2022
37
WNT-modulating gene silencers as a gene therapy for osteoporosis, bone fracture, and critical-sized bone defects. 62
36184851 2022
38
Effect of flavonoids from Rhizoma Drynariae on osteoporosis rats and osteocytes. 62
36076521 2022
39
Skeletal Effects of Inducible ERα Deletion in Osteocytes in Adult Mice. 62
35789113 2022
40
Sclerostin immunohistochemical staining in surgically treated giant cell tumor of bone. 62
35446992 2022
41
Multi-omics characterization reveals the pathogenesis of liver focal nodular hyperplasia. 62
36060063 2022
42
A novel BMP2 secretagogue ameliorates glucocorticoid induced oxidative stress in osteoblasts by activating NRF2 dependent survival while promoting Wnt/β-catenin mediated osteogenesis. 62
35963563 2022
43
Associations of serum sclerostin levels with body composition, pulmonary function, and exacerbations in COPD patients. 62
35963832 2022
44
Identifying Causes of Fracture Beyond Bone Mineral Density: Evidence From Human Genetics. 62
35689460 2022
45
Effects of periodontal and bisphosphonate treatment on the gingival crevicular levels of sclerostin and dickkopf-1 in postmenopausal osteoporosis with and without periodontitis. 62
35665506 2022
46
Serum granulocyte-macrophage colony-stimulating factor (GM-CSF) is increased in patients with active radiographic axial spondyloarthritis and persists despite anti-TNF treatment. 62
35974380 2022
47
Regulation of sclerostin by the SIRT1 stabilization pathway in osteocytes. 62
35169297 2022
48
Expression of Wnt signaling agonists and antagonists in periodontitis and healthy subjects, before and after non-surgical periodontal treatment: A systematic review. 62
35719081 2022
49
Osteocytic cells exposed to titanium particles increase sclerostin expression and inhibit osteoblastic cell differentiation mostly via direct cell-to-cell contact. 62
35762300 2022
50
An Insight Into the Association of Sclerostin With Insulin Sensitivity and Glycemic Parameters in Male Indian Prediabetic and Diabetic Population. 62
36004027 2022

Variations for Sclerosteosis

Expression for Sclerosteosis

Search GEO for disease gene expression data for Sclerosteosis.

Pathways for Sclerosteosis

Pathways related to Sclerosteosis according to GeneCards Suite gene sharing:

(show all 44)
# Super pathways Score Top Affiliating Genes
1 13.74 TGFB1 SOST PTH NOG LRP6 LRP5
2
Show member pathways
12.82 CTNNB1 DKK1 LRP5 LRP6 SOST
3
Show member pathways
12.79 SOST SFRP4 LRP6 LRP5 DKK1 CTNNB1
4
Show member pathways
12.78 SFRP4 LRP6 LRP5 DKK1 CTNNB1
5 12.65 CTNNB1 DKK1 FGF1 LRP5 LRP6 SFRP4
6
Show member pathways
12.45 TNFSF11 SFRP4 NOG LRP6 LRP5 FGF1
7
Show member pathways
12.42 TGFB1 NOG DKK1 CTNNB1
8
Show member pathways
12.42 LRP6 LRP5 DKK1 CTNNB1
9 12.38 LRP6 LRP5 DKK1 CTNNB1
10 12.26 TGFB1 LRP6 LRP5 GREM1 DKK1 CTNNB1
11 12.18 VDR TNFSF11 TGFB1 SOSTDC1 PTH LRP5
12 12.16 TGFB1 LRP6 LRP5 CTNNB1
13 12.14 TGFB1 LRP6 LRP5 CTNNB1
14
Show member pathways
12.08 TGFB1 LRP6 LRP5 CTNNB1
15
Show member pathways
12 SOST LRP6 LRP5 DKK1 CTNNB1
16
Show member pathways
11.96 CTNNB1 NOG RUNX2 TGFB1
17 11.92 LRP6 LRP5 DKK1 CTNNB1
18 11.86 TGFB1 SP7 RUNX2 PTH NOG BGLAP
19
Show member pathways
11.83 TGFB1 RUNX2 CTNNB1
20 11.79 TGFB1 GREM1 FGF1
21 11.77 CTNNB1 DKK1 LRP5 LRP6 TGFB1
22 11.73 CTNNB1 DKK1 NOG TGFB1
23
Show member pathways
11.69 SOSTDC1 NOG GREM2 GREM1
25 11.63 TGFB1 GREM1 FGF1
26
Show member pathways
11.63 SP7 RUNX2 COL1A1 BGLAP
27 11.56 RUNX2 FGF1 BGLAP
28 11.54 DKK1 NOG TGFB1
29 11.54 TNFSF11 TGFB1 NOG FGF1 DKK1
30 11.47 LRP6 DKK1 CTNNB1
31 11.44 TGFB1 RUNX2 BGLAP
32 11.29 VDR TNFSF11 RUNX2 PTH COL1A1 BGLAP
33 11.24 CTNNB1 DKK1 RUNX2 SOST SP7
34 11.17 COL1A1 LRP5 LRP6 SP7 TNFSF11
35 11.15 LRP6 LRP5 DKK1
36 11.13 TNFSF11 TGFB1 SP7 SOST RUNX2 PTH
37
Show member pathways
11.12 SOST LRP6 LRP5 DKK1
38 11.02 VDR TNFSF11 RUNX2 PTH COL1A1 BGLAP
39 10.92 TGFB1 GREM1
40 10.89 SFRP4 CTNNB1
41 10.83 VDR TGFB1
42 10.75 RUNX2 NOG
43 10.7 SOSTDC1 DKK1
44 10.65 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 10.05 BGLAP COL1A1 DKK1 FGF1 GREM1 GREM2
2 extracellular space GO:0005615 9.74 TNFSF11 TGFB1 SOSTDC1 SOST SFRP4 PTH
3 Wnt signalosome GO:1990909 9.63 LRP6 LRP5 CTNNB1
4 Wnt-Frizzled-LRP5/6 complex GO:1990851 9.56 LRP6 LRP5

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

(show top 50) (show all 61)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.51 CTNNB1 FGF1 GREM1 LRP5 LRP6 NOG
2 positive regulation of DNA-templated transcription GO:0045893 10.5 COL1A1 CTNNB1 GREM1 LRP5 LRP6 RUNX2
3 cell differentiation GO:0030154 10.39 CTNNB1 FGF1 LRP4 NOG RUNX2 SFRP4
4 positive regulation of cell population proliferation GO:0008284 10.37 TGFB1 RUNX2 LRP5 GREM1 FGF1 CTNNB1
5 response to xenobiotic stimulus GO:0009410 10.33 TGFB1 PTH CTNNB1 COL1A1 BGLAP
6 positive regulation of gene expression GO:0010628 10.32 CTNNB1 DKK1 FGF1 NOG PTH RUNX2
7 positive regulation of DNA-binding transcription factor activity GO:0051091 10.27 TNFSF11 LRP6 LRP5 CTNNB1
8 response to mechanical stimulus GO:0009612 10.2 SOST COL1A1 BGLAP
9 wound healing GO:0042060 10.2 TGFB1 NOG FGF1 COL1A1
10 animal organ morphogenesis GO:0009887 10.2 VDR TNFSF11 GREM2 GREM1 FGF1
11 osteoblast differentiation GO:0001649 10.2 SP7 RUNX2 NOG CTNNB1 COL1A1 BGLAP
12 negative regulation of osteoblast differentiation GO:0045668 10.19 GREM1 LRP5 NOG
13 ossification GO:0001503 10.19 BGLAP COL1A1 RUNX2 SOST TNFSF11
14 epithelial to mesenchymal transition GO:0001837 10.18 CTNNB1 NOG TGFB1
15 positive regulation of epithelial to mesenchymal transition GO:0010718 10.18 COL1A1 CTNNB1 TGFB1
16 stem cell differentiation GO:0048863 10.18 RUNX2 NOG BGLAP
17 positive regulation of epithelial cell proliferation GO:0050679 10.17 TGFB1 RUNX2 NOG FGF1
18 embryonic digit morphogenesis GO:0042733 10.17 NOG LRP5 LRP4 CTNNB1
19 negative regulation of Wnt signaling pathway GO:0030178 10.16 SOSTDC1 SOST SFRP4 DKK1
20 skeletal system development GO:0001501 10.15 BGLAP COL1A1 CTNNB1 NOG PTH RUNX2
21 epithelial cell proliferation GO:0050673 10.14 TGFB1 RUNX2 NOG FGF1
22 BMP signaling pathway GO:0030509 10.13 TGFB1 SOSTDC1 SOST RUNX2 NOG
23 odontogenesis of dentin-containing tooth GO:0042475 10.13 CTNNB1 LRP4 RUNX2 SOSTDC1 TGFB1
24 fibroblast growth factor receptor signaling pathway GO:0008543 10.12 NOG FGF1 CTNNB1
25 chondrocyte differentiation GO:0002062 10.12 TGFB1 RUNX2 CTNNB1
26 proximal/distal pattern formation GO:0009954 10.12 LRP4 GREM1 CTNNB1
27 stem cell proliferation GO:0072089 10.11 TGFB1 RUNX2 CTNNB1
28 bone resorption GO:0045453 10.11 TNFSF11 PTH CTNNB1
29 negative regulation of chondrocyte differentiation GO:0032331 10.11 PTH GREM1 CTNNB1
30 embryonic limb morphogenesis GO:0030326 10.1 LRP4 GREM1 DKK1
31 dorsal/ventral pattern formation GO:0009953 10.09 CTNNB1 LRP4 NOG
32 positive regulation of bone mineralization GO:0030501 10.09 VDR TGFB1 PTH
33 osteoblast development GO:0002076 10.09 BGLAP LRP5 RUNX2
34 positive regulation of stem cell proliferation GO:2000648 10.08 TGFB1 RUNX2 CTNNB1
35 osteoclast differentiation GO:0030316 10.08 TNFSF11 TGFB1 CTNNB1
36 limb development GO:0060173 10.06 NOG LRP4 GREM1 DKK1 CTNNB1
37 response to organic cyclic compound GO:0014070 10.05 TGFB1 SP7 COL1A1 BGLAP
38 face morphogenesis GO:0060325 10.05 TGFB1 NOG DKK1 COL1A1
39 negative regulation of ossification GO:0030279 10.04 TGFB1 SOST LRP4 DKK1
40 cellular response to zinc ion starvation GO:0034224 10.03 SP7 BGLAP
41 midbrain dopaminergic neuron differentiation GO:1904948 10.02 LRP6 CTNNB1
42 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 10.02 TGFB1 NOG GREM1
43 negative regulation of pathway-restricted SMAD protein phosphorylation GO:0060394 10.02 NOG GREM1 DKK1
44 tooth eruption GO:0044691 10.01 TNFSF11 COL1A1
45 cell morphogenesis involved in differentiation GO:0000904 10 DKK1 CTNNB1
46 T cell differentiation GO:0030217 10 TGFB1 RUNX2 CTNNB1
47 response to vitamin D GO:0033280 10 BGLAP PTH TGFB1
48 negative regulation of BMP signaling pathway GO:0030514 10 SOSTDC1 SOST NOG GREM2 GREM1 DKK1
49 determination of dorsal identity GO:0048263 9.99 GREM2 GREM1
50 ureteric bud formation GO:0060676 9.98 GREM1 NOG

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

# Name GO ID Score Top Affiliating Genes
1 receptor ligand activity GO:0048018 9.85 PTH GREM2 GREM1
2 Wnt-protein binding GO:0017147 9.73 SFRP4 LRP6 LRP5
3 toxin transmembrane transporter activity GO:0019534 9.5 LRP6 LRP5
4 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 9.46 LRP6 LRP5
5 coreceptor activity involved in Wnt signaling pathway GO:0071936 9.26 LRP6 LRP5
6 BMP binding GO:0036122 9.23 SOSTDC1 SOST GREM2 GREM1

Sources for Sclerosteosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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