Sclerosteosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Bone diseases Neuronal diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the musculoskeletal system and connective tissue

Disorders of bone density and structure

Other disorders of bone density and structure

Hyperostosis of skull

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

SNOMED-CT via HPO ⁶⁹ 11934000 128274005 193093009 more

UMLS ⁷¹ C0265301

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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...

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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:

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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

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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

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Genetic Tests for Sclerosteosis

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Anatomical Context for Sclerosteosis

Organs/tissues related to Sclerosteosis:

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

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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	Kim CA...Van Hul W	19072561	2008
2	Osteocyte-derived sclerostin inhibits bone formation: its role in bone morphogenetic protein and Wnt signaling. ⁵³ ⁶²	ten Dijke P...van Bezooijen RL	18292354	2008
3	Control of the SOST bone enhancer by PTH using MEF2 transcription factors. ⁵³ ⁶²	Leupin O...Keller H	17696759	2007
4	LRP5 mutations linked to high bone mass diseases cause reduced LRP5 binding and inhibition by SOST. ⁵³ ⁶²	Semenov MV...He X	17052975	2006
5	Bone mineral density in sclerosteosis; affected individuals and gene carriers. ⁵³ ⁶²	Gardner JC...Papapoulos SE	16189254	2005
6	SOST is a target gene for PTH in bone. ⁵³ ⁶²	Keller H...Kneissel M	15946907	2005
7	SOST is a ligand for LRP5/LRP6 and a Wnt signaling inhibitor. ⁵³ ⁶²	Semenov M...He X	15908424	2005
8	A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. ⁵³ ⁶²	Balemans W...Van Hul W	15869924	2005
9	SOST/sclerostin, an osteocyte-derived negative regulator of bone formation. ⁵³ ⁶²	van Bezooijen RL...Lowik CW	15869900	2005
10	Bone morphogenetic proteins and their antagonists: the sclerostin paradigm. ⁵³ ⁶²	van Bezooijen RL...Lowik CW	16323824	2005
11	Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites. ⁵³ ⁶²	Uitterlinden AG...Brunkow ME	15514891	2004
12	Sclerostin promotes the apoptosis of human osteoblastic cells: a novel regulation of bone formation. ⁵³ ⁶²	Sutherland MK...Latham JA	15454089	2004
13	Spaciotemporal association and bone morphogenetic protein regulation of sclerostin and osterix expression during embryonic osteogenesis. ⁵³ ⁶²	Ohyama Y...Noda M	15217980	2004
14	Unique regulation of SOST, the sclerosteosis gene, by BMPs and steroid hormones in human osteoblasts. ⁵³ ⁶²	Sutherland MK...Latham JA	15268896	2004
15	Identification of the disease-causing gene in sclerosteosis--discovery of a novel bone anabolic target? ⁵³ ⁶²	Balemans W...Van Hul W	15615113	2004
16	Cbfa1/RUNX2 directs specific expression of the sclerosteosis gene (SOST). ⁵³ ⁶²	Sevetson B...Pan Y	14739291	2004
17	Sclerostin is an osteocyte-expressed negative regulator of bone formation, but not a classical BMP antagonist. ⁵³ ⁶²	van Bezooijen RL...Lowik CW	15024046	2004
18	[Recent topics on bone remodeling]. ⁵³ ⁶²	Shinoda Y...Kawaguchi H	15576958	2004
19	Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia? ⁵³ ⁶²	Janssens K...Van Hul W	14564212	2003
20	Lack of association between the SOST gene and bone mineral density in perimenopausal women: analysis of five polymorphisms. ⁵³ ⁶²	Balemans W...Van Hul W	12398949	2002
21	Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. ⁵³ ⁶²	Balemans W...Van Hul W	11836356	2002
22	Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. ⁵³ ⁶²	Brunkow ME...Mulligan J	11179006	2001
23	Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). ⁵³ ⁶²	Balemans W...Van Hul W	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	Xiao Q...Li Y	36017689	2022
25	Serum sclerostin levels in osteoporotic fracture patients. ⁶²	Gorter EA...Schipper IB	35705746	2022
26	Directed evolution identifies high-affinity cystine-knot peptide agonists and antagonists of Wnt/β-catenin signaling. ⁶²	Hansen S...Hannoush RN	36343233	2022
27	Sclerostin antibody promotes bone formation through the Wnt/β-catenin signaling pathway in femoral trochlear after patellar instability. ⁶²	Xu C...Wang F	36379907	2022
28	The effects of prostaglandin E2 on gene expression of IDG-SW3-derived osteocytes in 2D and 3D culture. ⁶²	Wilmoth RL...Bryant SJ	36126467	2022
29	Associations between biomarkers of cellular senescence and physical function in humans: observations from the lifestyle interventions for elders (LIFE) study. ⁶²	Fielding RA...LeBrasseur NK	36367600	2022
30	Canonical Wnt/β-catenin signaling has positive effects on osteogenesis, but can have negative effects on cementogenesis. ⁶²	Li T...Duan P	35642884	2022
31	Sclerostin ablation prevents aortic valve stenosis in mice. ⁶²	Joll JE...Merryman WD	36240434	2022
32	Targeted postnatal knockout of Sclerostin using a bone-targeted adeno-associated viral vector increases bone anabolism and decreases canalicular density. ⁶²	O'Donohue AK...Schindeler A	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	Vadivalagan C...Tambuwala MM	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	Tabanez AP...Garlet GP	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	He Z...Yuan X	36262297	2022
36	Potential donor-dependent regulative effects of endogenous sclerostin expression and mineralization potential in primary human PDL cells in vitro. ⁶²	Knaup I...Wolf M	35787444	2022
37	WNT-modulating gene silencers as a gene therapy for osteoporosis, bone fracture, and critical-sized bone defects. ⁶²	Oh WT...Shim JH	36184851	2022
38	Effect of flavonoids from Rhizoma Drynariae on osteoporosis rats and osteocytes. ⁶²	Jin H...Xu H	36076521	2022
39	Skeletal Effects of Inducible ERα Deletion in Osteocytes in Adult Mice. ⁶²	Doolittle ML...Khosla S	35789113	2022
40	Sclerostin immunohistochemical staining in surgically treated giant cell tumor of bone. ⁶²	Kelly SP...Schwab JH	35446992	2022
41	Multi-omics characterization reveals the pathogenesis of liver focal nodular hyperplasia. ⁶²	Liu Y...Gao Q	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	Rai D...Trivedi R	35963563	2022
43	Associations of serum sclerostin levels with body composition, pulmonary function, and exacerbations in COPD patients. ⁶²	Amado CA...Casanova C	35963832	2022
44	Identifying Causes of Fracture Beyond Bone Mineral Density: Evidence From Human Genetics. ⁶²	Lu T...Richards JB	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	Ozden FO...Atmaca A	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	Papagoras C...Baraliakos X	35974380	2022
47	Regulation of sclerostin by the SIRT1 stabilization pathway in osteocytes. ⁶²	Kim JM...Shim JH	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	Chatzopoulos GS...Wolff LF	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	Chai H...Xu W	35762300	2022
50	An Insight Into the Association of Sclerostin With Insulin Sensitivity and Glycemic Parameters in Male Indian Prediabetic and Diabetic Population. ⁶²	Singh PK...Saha S	36004027	2022

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Genes for Sclerosteosis

Genes related to Sclerosteosis (2 elite genes):

(show all 30)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SOST	Sclerostin	Protein Coding	408.17	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	20301406 15514891 14739291 (more) 19072561 11181578 11179006 15869900 18292354 16323824 15268896 15024046 17696759 16189254 15946907 15869924 15217980 14564212 15615113 15576958 15454089 11836356 12398949 17052975
2	LRP4	LDL Receptor Related Protein 4	Protein Coding	371.89	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	21471202
3	LRP5	LDL Receptor Related Protein 5	Protein Coding	19.36	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15908424 14564212
4	RUNX2	RUNX Family Transcription Factor 2	Protein Coding	12.98	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
5	GREM1	Gremlin 1, DAN Family BMP Antagonist	Protein Coding	12.9	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
6	SOSTDC1	Sclerostin Domain Containing 1	Protein Coding	12.53	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
7	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	12.3	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
8	NOG	Noggin	Protein Coding	12.18	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
9	GREM2	Gremlin 2, DAN Family BMP Antagonist	Protein Coding	10.96	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
10	VDR	Vitamin D Receptor	Protein Coding	10.32	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
11	FGF1	Fibroblast Growth Factor 1	Protein Coding	9.55	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
12	LRP6	LDL Receptor Related Protein 6	Protein Coding	7.48	DISEASES inferred ¹⁴
13	DKK1	Dickkopf WNT Signaling Pathway Inhibitor 1	Protein Coding	7.41	DISEASES inferred ¹⁴
14	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	7.27	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	14564212
15	TNFSF11	TNF Superfamily Member 11	Protein Coding	6.8	DISEASES inferred ¹⁴
16	CTNNB1	Catenin Beta 1	Protein Coding	6.75	DISEASES inferred ¹⁴
17	BGLAP	Bone Gamma-Carboxyglutamate Protein	Protein Coding	6.57	DISEASES inferred ¹⁴
18	PTH	Parathyroid Hormone	Protein Coding	6.52	DISEASES inferred ¹⁴
19	SP7	Sp7 Transcription Factor	Protein Coding	6.39	DISEASES inferred ¹⁴
20	SFRP4	Secreted Frizzled Related Protein 4	Protein Coding	6.25	DISEASES inferred ¹⁴
21	CTSK	Cathepsin K	Protein Coding	6.16	DISEASES inferred ¹⁴
22	WNT3A	Wnt Family Member 3A	Protein Coding	6.11	DISEASES inferred ¹⁴
23	MEPE	Matrix Extracellular Phosphoglycoprotein	Protein Coding	6.1	DISEASES inferred ¹⁴
24	SFRP1	Secreted Frizzled Related Protein 1	Protein Coding	6.07	DISEASES inferred ¹⁴
25	WNT10B	Wnt Family Member 10B	Protein Coding	6.05	DISEASES inferred ¹⁴
26	WNT1	Wnt Family Member 1	Protein Coding	6.01	DISEASES inferred ¹⁴
27	FRZB	Frizzled Related Protein	Protein Coding	5.98	DISEASES inferred ¹⁴
28	WNT16	Wnt Family Member 16	Protein Coding	5.96	DISEASES inferred ¹⁴
29	KREMEN1	Kringle Containing Transmembrane Protein 1	Protein Coding	5.94	DISEASES inferred ¹⁴
30	ACP5	Acid Phosphatase 5, Tartrate Resistant	Protein Coding	5.88	DISEASES inferred ¹⁴

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Variations for Sclerosteosis

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Expression for Sclerosteosis

Search GEO for disease gene expression data for Sclerosteosis.

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Pathways for Sclerosteosis

Pathways related to Sclerosteosis according to GeneCards Suite gene sharing:

(show all 44)

#	Super pathways	Score	Top Affiliating Genes
1	Signal Transduction ⁶⁶	13.74	TGFB1 SOST PTH NOG LRP6 LRP5
2	Signaling by WNT ⁶⁶ Show member pathways TCF dependent signaling in response to WNT ⁶⁶	12.82	CTNNB1 DKK1 LRP5 LRP6 SOST
3	ncRNAs involved in Wnt signaling in hepatocellular carcinoma ⁷⁴ Show member pathways lncRNA in canonical Wnt signaling and colorectal cancer ⁷⁴ Wnt signaling ⁷⁴ Wnt signaling pathway and pluripotency ⁷⁴ Wnt Signaling Pathways ⁶⁵	12.79	SOST SFRP4 LRP6 LRP5 DKK1 CTNNB1
4	Alzheimer's disease and miRNA effects ⁷⁴ Show member pathways Alzheimer's disease ⁷⁴	12.78	SFRP4 LRP6 LRP5 DKK1 CTNNB1
5	Malignant pleural mesothelioma ⁷⁴	12.65	CTNNB1 DKK1 FGF1 LRP5 LRP6 SFRP4
6	Breast cancer pathway ⁷⁴ Show member pathways Embryonic stem cell pluripotency pathways ⁷⁴	12.45	TNFSF11 SFRP4 NOG LRP6 LRP5 FGF1
7	Human Embryonic Stem Cell Pluripotency ⁶⁴ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁴	12.42	TGFB1 NOG DKK1 CTNNB1
8	CTNNB1 S33 mutants aren't phosphorylated ⁶⁶ Show member pathways APC truncation mutants have impaired AXIN binding ⁶⁶ AXIN missense mutants destabilize the destruction complex ⁶⁶ Beta-catenin phosphorylation cascade ⁶⁶ CTLA4 inhibitory signaling ⁶⁶ CTNNB1 S37 mutants aren't phosphorylated ⁶⁶ CTNNB1 S45 mutants aren't phosphorylated ⁶⁶ CTNNB1 T41 mutants aren't phosphorylated ⁶⁶ Disassembly of the destruction complex and recruitment of AXIN to the membrane ⁶⁶ Signaling by AMER1 mutants ⁶⁶ Signaling by APC mutants ⁶⁶ Signaling by AXIN mutants ⁶⁶ Signaling by CTNNB1 phospho-site mutants ⁶⁶ Signaling by GSK3beta mutants ⁶⁶ Signaling by WNT in cancer ⁶⁶ Truncations of AMER1 destabilize the destruction complex ⁶⁶	12.42	LRP6 LRP5 DKK1 CTNNB1
9	WNT Signaling ⁶⁴	12.38	LRP6 LRP5 DKK1 CTNNB1
10	Wnt / Hedgehog / Notch ³	12.26	TGFB1 LRP6 LRP5 GREM1 DKK1 CTNNB1
11	Vitamin D receptor pathway ⁷⁴	12.18	VDR TNFSF11 TGFB1 SOSTDC1 PTH LRP5
12	Colorectal Cancer Metastasis ⁶⁴	12.16	TGFB1 LRP6 LRP5 CTNNB1
13	Epithelial to mesenchymal transition in colorectal cancer ⁷⁴	12.14	TGFB1 LRP6 LRP5 CTNNB1
14	MicroRNAs in cardiomyocyte hypertrophy ⁷⁴ Show member pathways Cardiac hypertrophic response ⁷⁴	12.08	TGFB1 LRP6 LRP5 CTNNB1
15	Wnt Pathway ⁷⁰ Show member pathways LGK974 inhibits PORCN ⁶⁶ WNT ligand biogenesis and trafficking ⁶⁶ Wnt signaling in kidney disease ⁷⁴ Wnt signaling network ⁶¹	12	SOST LRP6 LRP5 DKK1 CTNNB1
16	TGF-beta receptor signaling in skeletal dysplasias ⁷⁴ Show member pathways TGF-beta receptor signaling ⁷⁴	11.96	CTNNB1 NOG RUNX2 TGFB1
17	Reelin Pathway (Cajal-Retzius cells) ⁶⁴	11.92	LRP6 LRP5 DKK1 CTNNB1
18	Mesenchymal Stem Cells and Lineage-specific Markers ⁶⁵	11.86	TGFB1 SP7 RUNX2 PTH NOG BGLAP
19	Overlap between signal transduction pathways contributing to LMNA laminopathies ⁷⁴ Show member pathways Influence of laminopathies on Wnt signaling ⁷⁴	11.83	TGFB1 RUNX2 CTNNB1
20	Angiogenesis (CST) ³	11.79	TGFB1 GREM1 FGF1
21	Primary focal segmental glomerulosclerosis (FSGS) ⁷⁴	11.77	CTNNB1 DKK1 LRP5 LRP6 TGFB1
22	Endoderm differentiation ⁷⁴	11.73	CTNNB1 DKK1 NOG TGFB1
23	Signaling by BMP ⁶⁶ Show member pathways BMP receptor signaling ⁶¹ BMP Signalling Pathway ⁶¹	11.69	SOSTDC1 NOG GREM2 GREM1
24	Osteoblast differentiation and related diseases ⁷⁴	11.66	RUNX2 LRP6 LRP5 CTNNB1
25	Lung fibrosis ⁷⁴	11.63	TGFB1 GREM1 FGF1
26	RUNX2 regulates bone development ⁶⁶ Show member pathways RUNX2 regulates chondrocyte maturation ⁶⁶ RUNX2 regulates osteoblast differentiation ⁶⁶	11.63	SP7 RUNX2 COL1A1 BGLAP
27	FGF signaling pathway ⁶¹	11.56	RUNX2 FGF1 BGLAP
28	Cardiac progenitor differentiation ⁷⁴	11.54	DKK1 NOG TGFB1
29	Pluripotent stem cell differentiation pathway ⁷⁴	11.54	TNFSF11 TGFB1 NOG FGF1 DKK1
30	Presenilin action in Notch and Wnt signaling ⁶¹	11.47	LRP6 DKK1 CTNNB1
31	Interleukin-11 signaling pathway ⁷⁴	11.44	TGFB1 RUNX2 BGLAP
32	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²²	11.29	VDR TNFSF11 RUNX2 PTH COL1A1 BGLAP
33	OSX and miRNAs in tooth development ⁷⁴	11.24	CTNNB1 DKK1 RUNX2 SOST SP7
34	Type I collagen synthesis in the context of osteogenesis imperfecta ⁷⁴	11.17	COL1A1 LRP5 LRP6 SP7 TNFSF11
35	Wnt/beta-catenin signaling pathway in leukemia ⁷⁴	11.15	LRP6 LRP5 DKK1
36	Clock-controlled autophagy in bone metabolism ⁷⁴	11.13	TNFSF11 TGFB1 SP7 SOST RUNX2 PTH
37	Negative regulation of TCF-dependent signaling by WNT ligand antagonists ⁶⁶ Show member pathways Signaling by LRP5 mutants ⁶⁶	11.12	SOST LRP6 LRP5 DKK1
38	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	11.02	VDR TNFSF11 RUNX2 PTH COL1A1 BGLAP
39	Canonical and non-canonical TGF-B signaling ⁷⁴	10.92	TGFB1 GREM1
40	Regulation of Wnt / B-catenin signaling by small molecule compounds ⁷⁴	10.89	SFRP4 CTNNB1
41	RXR and RAR heterodimerization with other nuclear receptor ⁶¹	10.83	VDR TGFB1
42	Bone morphogenic protein signaling and regulation ⁷⁴	10.75	RUNX2 NOG
43	EDA signaling in hair follicle development ⁷⁴	10.7	SOSTDC1 DKK1
44	Vitamin D metabolism ⁷⁴	10.65	VDR PTH

Sources

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

Sources for Sclerosteosis

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

SOST MCID: SCL048 MIFTS: 51	Sclerosteosis (SOST) Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Sclerosteosis (SOST)

Aliases & Classifications for Sclerosteosis

MalaCards integrated aliases for Sclerosteosis:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Sclerosteosis

Related Diseases for Sclerosteosis

Diseases in the Sclerosteosis family:

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

Graphical network of the top 20 diseases related to Sclerosteosis:

Symptoms & Phenotypes for Sclerosteosis

Human phenotypes related to Sclerosteosis:

UMLS symptoms related to Sclerosteosis:

MGI Mouse Phenotypes related to Sclerosteosis:

Drugs & Therapeutics for Sclerosteosis

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

Interventional clinical trials:

Cochrane evidence based reviews: sclerosteosis

Genetic Tests for Sclerosteosis

Anatomical Context for Sclerosteosis

Organs/tissues related to Sclerosteosis:

Publications for Sclerosteosis

Articles related to Sclerosteosis:

Genes for Sclerosteosis

Genes related to Sclerosteosis (2 elite genes):

Variations for Sclerosteosis

Expression for Sclerosteosis

Pathways for Sclerosteosis

Pathways related to Sclerosteosis according to GeneCards Suite gene sharing:

GO Terms for Sclerosteosis

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

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

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

Sources for Sclerosteosis