Sclerosteosis 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Sclerosteosis 1

MalaCards integrated aliases for Sclerosteosis 1:

Name: Sclerosteosis 1 ⁵⁷ ¹¹ ⁷³ ²⁸ ⁵ ¹⁴

Sost1 ⁵⁷ ¹¹ ⁷³

Cortical Hyperostosis with Syndactyly ⁵⁷ ⁷³

Sclerosteosis ⁷³ ⁷¹

Sost ⁵⁷ ⁷³

Sclerosteosis, Type 1 ³⁸

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
majority of cases in the afrikaner population of south africa
sudden death secondary to impaction of medulla oblongata
facial palsy often transient in infancy

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the musculoskeletal system and connective tissue

Disorders of bone density and structure

Other disorders of bone density and structure

Hyperostosis of skull

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Summaries for Sclerosteosis 1

UniProtKB/Swiss-Prot: ⁷³ An autosomal recessive sclerosing bone dysplasia characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur. Sclerosteosis is clinically and radiologically very similar to van Buchem disease, mainly differentiated by hand malformations and a large stature in sclerosteosis patients.

MalaCards based summary: Sclerosteosis 1, also known as sost1, is related to van buchem disease and craniodiaphyseal dysplasia, and has symptoms including unspecified visual loss An important gene associated with Sclerosteosis 1 is SOST (Sclerostin), and among its related pathways/superpathways are Vitamin D receptor pathway and RUNX2 regulates bone development. The drug Diphosphonates has been mentioned in the context of this disorder. Affiliated tissues include bone, medulla oblongata and bone marrow, and related phenotypes are frontal bossing and large face

OMIM®: ⁵⁷ Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001). (269500) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ A sclerosteosis that has material basis in homozygous mutation in the SOST gene on chromosome 17q21.

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Related Diseases for Sclerosteosis 1

Diseases in the Sclerosteosis family:

Sclerosteosis 1

Sclerosteosis 2

Diseases related to Sclerosteosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 139)

#	Related Disease	Score	Top Affiliating Genes
1	van buchem disease	32.2	SP7 SOST LRP4 BGLAP
2	craniodiaphyseal dysplasia	31.7	VWC2L SP7 SOST
3	sclerosteosis 2	31.7	SOST LRP4
4	osteoporosis-pseudoglioma syndrome	31.5	SP7 SOST
5	sclerosteosis	31.5	SP7 SOSTDC1 SOST LRP4 BGLAP
6	hyperostosis	31.5	TNFRSF11B SOST LRP4
7	exostosis	31.4	SOST BGLAP
8	osteomalacia	31.4	SOST DMP1 BGLAP
9	diffuse idiopathic skeletal hyperostosis	31.4	SOST BGLAP
10	hypophosphatemia	31.4	SOST DMP1 BGLAP
11	osteitis fibrosa	31.4	SOST BGLAP
12	cenani-lenz syndactyly syndrome	31.3	SOST LRP4
13	pycnodysostosis	31.3	SOST BGLAP
14	phosphorus metabolism disease	31.3	SOST BGLAP
15	endosteal hyperostosis, autosomal dominant	31.3	TNFRSF11B SP7 SOST
16	osteogenesis imperfecta, type iv	31.3	SP7 SOST
17	familial expansile osteolysis	31.3	TNFRSF11B SOST
18	hypophosphatasia	31.3	SOST BGLAP
19	glucocorticoid-induced osteoporosis	31.2	SP7 SOST BGLAP
20	parathyroid gland disease	31.2	SOST BGLAP
21	bone disease	31.2	TNFRSF11B SP7 SOST BGLAP
22	osteogenesis imperfecta, type i	31.2	SOST BGLAP
23	osteoporosis, juvenile	31.2	SP7 SOST BGLAP
24	ischemic bone disease	31.2	SP7 SOST BGLAP
25	bone development disease	31.2	SP7 SOST BGLAP
26	mineral metabolism disease	31.2	SOST BGLAP
27	bone resorption disease	31.2	SP7 SOST BGLAP
28	bone remodeling disease	31.2	SP7 SOST BGLAP
29	hypophosphatemic rickets, x-linked dominant	31.1	SOST DMP1 BGLAP
30	hyperparathyroidism	31.1	TNFRSF11B SOST BGLAP
31	ankylosis	30.8	TNFRSF11B SP7 SOST BGLAP
32	osteochondrodysplasia	30.8	TNFRSF11B SP7 SOST BGLAP
33	camurati-engelmann disease	30.7	TNFRSF11B SP7 SOST BGLAP
34	mammary paget's disease	30.7	TNFRSF11B SP7 SOST BGLAP
35	craniometaphyseal dysplasia, autosomal dominant	30.7	TNFRSF11B SP7 SOST BGLAP
36	breast adenocarcinoma	30.7	TNFRSF11B SP7 SOST BGLAP
37	chronic kidney disease	30.6	TNFRSF11B SOST BGLAP
38	brittle bone disorder	30.6	TNFRSF11B SP7 SOST DMP1 BGLAP
39	osteogenic sarcoma	29.6	TNFRSF11B SP7 BGLAP
40	fibrodysplasia ossificans progressiva	29.3	SP7 CHRD
41	craniodiaphyseal dysplasia, autosomal dominant	11.3
42	osteoporosis	11.2
43	sost-related sclerosing bone dysplasias	11.1
44	spondylitis	11.0
45	mccune-albright syndrome	11.0
46	diabetes mellitus	11.0
47	kidney disease	11.0
48	chromosome 2q35 duplication syndrome	10.9
49	osteogenesis imperfecta, type vi	10.9
50	hypophosphatasia, childhood	10.8

Graphical network of the top 20 diseases related to Sclerosteosis 1:

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Symptoms & Phenotypes for Sclerosteosis 1

Human phenotypes related to Sclerosteosis 1:

³⁰ (show all 40)

#	Description	HPO Frequency	HPO Source Accession
1	frontal bossing ³⁰	Very rare (1%)	HP:0002007
2	large face ³⁰	Very rare (1%)	HP:0100729
3	prominent supraorbital ridges ³⁰	Very rare (1%)	HP:0000336
4	mandibular prognathia ³⁰	Very rare (1%)	HP:0000303
5	optic atrophy ³⁰	Very rare (1%)	HP:0000648
6	arthralgia ³⁰	Very rare (1%)	HP:0002829
7	proptosis ³⁰	Very rare (1%)	HP:0000520
8	headache ³⁰	Very rare (1%)	HP:0002315
9	nail dysplasia ³⁰	Very rare (1%)	HP:0002164
10	visual loss ³⁰	Very rare (1%)	HP:0000572
11	irregular menstruation ³⁰	Very rare (1%)	HP:0000858
12	large sella turcica ³⁰	Very rare (1%)	HP:0002690
13	syndactyly ³⁰	Very rare (1%)	HP:0001159
14	blurred vision ³⁰	Very rare (1%)	HP:0000622
15	papilledema ³⁰	Very rare (1%)	HP:0001085
16	sclerotic vertebral endplates ³⁰	Very rare (1%)	HP:0004576
17	tooth malposition ³⁰	Very rare (1%)	HP:0000692
18	nystagmus ³⁰		HP:0000639
19	facial palsy ³⁰		HP:0010628
20	hearing impairment ³⁰		HP:0000365
21	depressed nasal bridge ³⁰		HP:0005280
22	hypertelorism ³⁰		HP:0000316
23	dental malocclusion ³⁰		HP:0000689
24	increased intracranial pressure ³⁰		HP:0002516
25	wide nasal bridge ³⁰		HP:0000431
26	cognitive impairment ³⁰		HP:0100543
27	broad ribs ³⁰		HP:0000885
28	malar flattening ³⁰		HP:0000272
29	midface retrusion ³⁰		HP:0011800
30	deviation of finger ³⁰		HP:0004097
31	constriction of peripheral visual field ³⁰		HP:0001133
32	2-3 finger syndactyly ³⁰		HP:0001233
33	esotropia ³⁰		HP:0000565
34	broad clavicles ³⁰		HP:0000916
35	overgrowth ³⁰		HP:0001548
36	sudden death ³⁰		HP:0001699
37	sclerotic scapulae ³⁰		HP:0001474
38	abnormal pelvic girdle bone morphology ³⁰		HP:0002644
39	cortically dense long tubular bones ³⁰		HP:0006415
40	facial palsy secondary to cranial hyperostosis ³⁰		HP:0007285

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
nystagmus
hypertelorism
optic atrophy
proptosis
vision loss
more

Neurologic Central Nervous System:
increased intracranial pressure
facial palsy, secondary to cranial hyperostosis
chronic headaches
intellectual impairment

Skeletal Hands:
2-3 finger syndactyly
deviation of terminal phalanges

Skeletal Spine:
sclerotic vertebral endplates
sclerotic pedicles

Skeletal Limbs:
cortically dense long tubular bones
lack of diaphyseal modeling

Growth Height:
gigantism, mild-moderate

Head And Neck Nose:
broad, flat nasal root

Skeletal Pelvis:
sclerotic pelvis

Head And Neck Teeth:
dental malocclusion

Skin Nails Hair Nails:
nail dysplasia

Growth Other:
overgrowth

Chest Ribs Sternum Clavicles And Scapulae:
sclerotic scapulae
broad, dense clavicles
broad, dense ribs

Head And Neck Face:
midface hypoplasia
prognathism
frontal prominence

Head And Neck Ears:
deafness, secondary to cranial hyperostosis

Skeletal Skull:
prominent, asymmetric mandible
cranial hyperostosis (onset in infancy)
occlusion of cranial foramina

Clinical features from OMIM®:

269500 (Updated 08-Dec-2022)

UMLS symptoms related to Sclerosteosis 1:

unspecified visual loss

MGI Mouse Phenotypes related to Sclerosteosis 1:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail	MP:0005371	9.65	DMP1 LRP4 SOST SP7 TNFRSF11B
2	cellular	MP:0005384	9.56	BGLAP CHRD DMP1 LRP4 SOST SOSTDC1
3	craniofacial	MP:0005382	9.55	CHRD DMP1 LRP4 SOSTDC1 TNFRSF11B
4	skeleton	MP:0005390	9.23	BGLAP CHRD DMP1 LRP4 SOST SOSTDC1

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Drugs & Therapeutics for Sclerosteosis 1

Drugs for Sclerosteosis 1 (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 1

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Genetic Tests for Sclerosteosis 1

Genetic tests related to Sclerosteosis 1:

#	Genetic test	Affiliating Genes
1	Sclerosteosis 1 ²⁸	SOST

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Anatomical Context for Sclerosteosis 1

Organs/tissues related to Sclerosteosis 1:

MalaCards : Bone, Medulla Oblongata, Bone Marrow, Spinal Cord, Smooth Muscle, Kidney, Prostate

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Publications for Sclerosteosis 1

Articles related to Sclerosteosis 1:

(show top 50) (show all 927)

#	Title	Authors	PMID	Year
1	Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. ⁶² ⁵⁷ ⁵	Brunkow ME...Mulligan J	11179006	2001
2	Sclerosteosis: report of a case in a black African man. ⁶² ⁵⁷ ⁵	Tacconi P...Giagheddu M	9712543	1998
3	A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis. ⁶² ⁵	Fayez A...El Ruby M	25984533	2015
4	The natural history of sclerosteosis. ⁶² ⁵⁷	Hamersma H...Beighton P	12694228	2003
5	Dental and oral manifestations of sclerosteosis. ⁶² ⁵⁷	Stephen LX...Beighton P	11570544	2001
6	Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). ⁶² ⁵	Balemans W...Van Hul W	11181578	2001
7	Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21. ⁶² ⁵⁷	Balemans W...Van Hul W	10330353	1999
8	Sclerosteosis. ⁶² ⁵⁷	Beighton P	3351908	1988
9	The syndromic status of sclerosteosis and van Buchem disease. ⁶² ⁵⁷	Beighton P...van der Wouden A	6323069	1984
10	Sclerosteosis: neurogenetic and pathophysiologic analysis of an American kinship. ⁶² ⁵⁷	Stein SA...Schlesinger S	6681869	1983
11	Sclerosteosis involving the temporal bone: clinical and radiologic aspects. ⁶² ⁵⁷	Nager GT...Jabs EW	6673595	1983
12	Sclerosteosis in old age. ⁶² ⁵⁷	Barnard AH...Beighton P	7404164	1980
13	Endocrine function in sclerosteosis. ⁶² ⁵⁷	Epstein S...Beighton P	225834	1979
14	Sclerosteosis - an autosomal recessive disorder. ⁶² ⁵⁷	Beighton P...Hamersma H	187366	1977
15	The radiology of sclerosteosis. ⁶² ⁵⁷	Beighton P...Hamersma H	188507	1976
16	The clinical features of sclerosteosis. A review of the manifestations in twenty-five affected individuals. ⁶² ⁵⁷	Beighton P...Hamersma H	1259284	1976
17	Sclerosteosis. A case report. ⁶² ⁵⁷	Sugiura Y...Yasuhara T	163261	1975
18	Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21. ⁵⁷	Van Hul W...Willems PJ	9463328	1998
19	The neurologic manifestations of osteopetrosis (Albers-Schonberg's disease). ⁵⁷	KLINTWORTH GK	14033572	1963
20	Osteopetrosis with syndactyly; a morphological variant of Albers-Schönberg's disease. ⁵⁷	TRUSWELL AS	13539104	1958
21	Albers-Schönberg disease; a family survey. ⁵⁷	KELLEY CH...LAWLAH JW	20274620	1946
22	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
23	Serum sclerostin levels in osteoporotic fracture patients. ⁶²	Gorter EA...Schipper IB	35705746	2022
24	Directed evolution identifies high-affinity cystine-knot peptide agonists and antagonists of Wnt/β-catenin signaling. ⁶²	Hansen S...Hannoush RN	36343233	2022
25	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
26	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
27	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
28	Canonical Wnt/β-catenin signaling has positive effects on osteogenesis, but can have negative effects on cementogenesis. ⁶²	Li T...Duan P	35642884	2022
29	Sclerostin ablation prevents aortic valve stenosis in mice. ⁶²	Joll JE...Merryman WD	36240434	2022
30	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
31	WNT-modulating gene silencers as a gene therapy for osteoporosis, bone fracture, and critical-sized bone defects. ⁶²	Oh WT...Shim JH	36184851	2022
32	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
33	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
34	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
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	Sclerostin immunohistochemical staining in surgically treated giant cell tumor of bone. ⁶²	Kelly SP...Schwab JH	35446992	2022
37	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
38	Multi-omics characterization reveals the pathogenesis of liver focal nodular hyperplasia. ⁶²	Liu Y...Gao Q	36060063	2022
39	Skeletal Effects of Inducible ERα Deletion in Osteocytes in Adult Mice. ⁶²	Doolittle ML...Khosla S	35789113	2022
40	Effect of flavonoids from Rhizoma Drynariae on osteoporosis rats and osteocytes. ⁶²	Jin H...Xu H	36076521	2022
41	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
42	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
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	Regulation of sclerostin by the SIRT1 stabilization pathway in osteocytes. ⁶²	Kim JM...Shim JH	35169297	2022
46	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
47	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
48	Evidence for the major contribution of remodeling-based bone formation in sclerostin-deficient mice. ⁶²	Koide M...Kobayashi Y	35381389	2022
49	Optimizing Tenogenic Differentiation of Equine Adipose-Derived Mesenchymal Stem Cells (eq-ASC) Using TGFB3 Along with BMP Antagonists. ⁶²	Shojaee A...Nasr Esfahani MH	36043405	2022
50	Dynamic alternations of RANKL/OPG ratio expressed by cementocytes in response to orthodontic‑induced external apical root resorption in a rat model. ⁶²	Wei T...Shen G	35593309	2022

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Genes for Sclerosteosis 1

Genes related to Sclerosteosis 1 (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SOST	Sclerostin	Protein Coding	1314.14	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	9712543 11179006 11181578 (more) 25984533
2	TLCD3A	TLC Domain Containing 3A	Protein Coding	5.7	DISEASES inferred ¹⁴
3	SP7	Sp7 Transcription Factor	Protein Coding	5.48	DISEASES inferred ¹⁴
4	LENG1	Leukocyte Receptor Cluster Member 1	Protein Coding	5.23	DISEASES inferred ¹⁴
5	DMP1	Dentin Matrix Acidic Phosphoprotein 1	Protein Coding	5.14	DISEASES inferred ¹⁴
6	VWC2L	Von Willebrand Factor C Domain Containing 2 Like	Protein Coding	5.13	DISEASES inferred ¹⁴
7	DAND5	DAN Domain BMP Antagonist Family Member 5	Protein Coding	5.12	DISEASES inferred ¹⁴
8	SOSTDC1	Sclerostin Domain Containing 1	Protein Coding	5.11	DISEASES inferred ¹⁴
9	LRP4	LDL Receptor Related Protein 4	Protein Coding	4.96	DISEASES inferred ¹⁴
10	TNFRSF11B	TNF Receptor Superfamily Member 11b	Protein Coding	4.84	DISEASES inferred ¹⁴
11	CHRD	Chordin	Protein Coding	4.83	DISEASES inferred ¹⁴
12	BGLAP	Bone Gamma-Carboxyglutamate Protein	Protein Coding	4.8	DISEASES inferred ¹⁴

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Variations for Sclerosteosis 1

ClinVar genetic disease variations for Sclerosteosis 1:

⁵ (show all 50)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SOST	NM_025237.3(SOST):c.70C>T (p.Gln24Ter)	SNV	Pathogenic	4783	rs387906320	GRCh37: 17:41836040-41836040 GRCh38: 17:43758672-43758672
2	SOST	NM_025237.3(SOST):c.220+3A>T	SNV	Pathogenic	4784		GRCh37: 17:41835887-41835887 GRCh38: 17:43758519-43758519
3	SOST	NM_025237.3(SOST):c.372G>A (p.Trp124Ter)	SNV	Pathogenic	4785	rs104894644	GRCh37: 17:41832980-41832980 GRCh38: 17:43755612-43755612
4	SOST	NM_025237.3(SOST):c.376C>T (p.Arg126Ter)	SNV	Pathogenic	4786	rs104894645	GRCh37: 17:41832976-41832976 GRCh38: 17:43755608-43755608
5	SOST	NM_025237.3(SOST):c.87dup (p.Lys30fs)	DUP	Pathogenic	1342991		GRCh37: 17:41836022-41836023 GRCh38: 17:43758654-43758655
6	SOST	NM_025237.3(SOST):c.177G>A (p.Ala59=)	SNV	Uncertain Significance	764169	rs201706408	GRCh37: 17:41835933-41835933 GRCh38: 17:43758565-43758565
7	SOST	NM_025237.3(SOST):c.*219T>C	SNV	Uncertain Significance	892298	rs1017350702	GRCh37: 17:41832491-41832491 GRCh38: 17:43755123-43755123
8	SOST	NM_025237.3(SOST):c.*203G>A	SNV	Uncertain Significance	892299	rs753407763	GRCh37: 17:41832507-41832507 GRCh38: 17:43755139-43755139
9	SOST	NM_025237.3(SOST):c.*1363C>T	SNV	Uncertain Significance	890524	rs918885949	GRCh37: 17:41831347-41831347 GRCh38: 17:43753979-43753979
10	SOST	NM_025237.3(SOST):c.*1267C>G	SNV	Uncertain Significance	890525	rs76802447	GRCh37: 17:41831443-41831443 GRCh38: 17:43754075-43754075
11	SOST	NM_025237.3(SOST):c.*1063C>T	SNV	Uncertain Significance	890526	rs1352568425	GRCh37: 17:41831647-41831647 GRCh38: 17:43754279-43754279
12	SOST	NM_025237.3(SOST):c.*902T>C	SNV	Uncertain Significance	891082	rs531006039	GRCh37: 17:41831808-41831808 GRCh38: 17:43754440-43754440
13	SOST	NM_025237.3(SOST):c.*883A>T	SNV	Uncertain Significance	891083	rs1974104389	GRCh37: 17:41831827-41831827 GRCh38: 17:43754459-43754459
14	SOST	NM_025237.3(SOST):c.*689T>C	SNV	Uncertain Significance	891084	rs1470510281	GRCh37: 17:41832021-41832021 GRCh38: 17:43754653-43754653
15	SOST	NM_025237.3(SOST):c.*666T>C	SNV	Uncertain Significance	891085	rs538476059	GRCh37: 17:41832044-41832044 GRCh38: 17:43754676-43754676
16	SOST	NM_025237.3(SOST):c.*569G>T	SNV	Uncertain Significance	891086	rs1974108139	GRCh37: 17:41832141-41832141 GRCh38: 17:43754773-43754773
17	SOST	NM_025237.3(SOST):c.461C>T (p.Pro154Leu)	SNV	Uncertain Significance	323438	rs760883576	GRCh37: 17:41832891-41832891 GRCh38: 17:43755523-43755523
18	SOST	NM_025237.3(SOST):c.*1529T>C	SNV	Uncertain Significance	323425	rs182899606	GRCh37: 17:41831181-41831181 GRCh38: 17:43753813-43753813
19	SOST	NM_025237.3(SOST):c.*314C>G	SNV	Uncertain Significance	323435	rs765892196	GRCh37: 17:41832396-41832396 GRCh38: 17:43755028-43755028
20	SOST	NM_025237.3(SOST):c.*140A>G	SNV	Uncertain Significance	323436	rs886052979	GRCh37: 17:41832570-41832570 GRCh38: 17:43755202-43755202
21	SOST	NM_025237.3(SOST):c.328G>A (p.Gly110Ser)	SNV	Uncertain Significance	323439	rs886052981	GRCh37: 17:41833024-41833024 GRCh38: 17:43755656-43755656
22	SOST	NM_025237.3(SOST):c.*1176A>G	SNV	Uncertain Significance	323431	rs886052978	GRCh37: 17:41831534-41831534 GRCh38: 17:43754166-43754166
23	SOST	NM_025237.3(SOST):c.153G>A (p.Glu51=)	SNV	Uncertain Significance	323440	rs150640883	GRCh37: 17:41835957-41835957 GRCh38: 17:43758589-43758589
24	SOST	NM_025237.3(SOST):c.533A>G (p.Glu178Gly)	SNV	Uncertain Significance	323437	rs886052980	GRCh37: 17:41832819-41832819 GRCh38: 17:43755451-43755451
25	SOST	NM_025237.3(SOST):c.*1498G>A	SNV	Uncertain Significance	888823	rs866808140	GRCh37: 17:41831212-41831212 GRCh38: 17:43753844-43753844
26	SOST	NM_025237.3(SOST):c.448G>A (p.Gly150Ser)	SNV	Uncertain Significance	888898	rs548849329	GRCh37: 17:41832904-41832904 GRCh38: 17:43755536-43755536
27	SOST	NM_025237.3(SOST):c.303C>T (p.Thr101=)	SNV	Uncertain Significance	888899	rs758794256	GRCh37: 17:41833049-41833049 GRCh38: 17:43755681-43755681
28	SOST	NM_025237.3(SOST):c.143C>T (p.Pro48Leu)	SNV	Uncertain Significance	888900	rs779039644	GRCh37: 17:41835967-41835967 GRCh38: 17:43758599-43758599
29	SOST	NM_025237.3(SOST):c.114C>T (p.Pro38=)	SNV	Uncertain Significance	888901	rs750870565	GRCh37: 17:41835996-41835996 GRCh38: 17:43758628-43758628
30	SOST	NM_025237.3(SOST):c.*1402T>G	SNV	Uncertain Significance	890522	rs1974097858	GRCh37: 17:41831308-41831308 GRCh38: 17:43753940-43753940
31	SOST	NM_025237.3(SOST):c.*1391G>C	SNV	Likely Benign	890523	rs144304911	GRCh37: 17:41831319-41831319 GRCh38: 17:43753951-43753951
32	SOST	NM_025237.3(SOST):c.-10G>A	SNV	Likely Benign	193461	rs190743758	GRCh37: 17:41836119-41836119 GRCh38: 17:43758751-43758751
33	SOST	NM_025237.3(SOST):c.-21T>G	SNV	Likely Benign	890597	rs202008449	GRCh37: 17:41836130-41836130 GRCh38: 17:43758762-43758762
34	SOST	NM_025237.3(SOST):c.56G>A (p.Arg19His)	SNV	Likely Benign	890596	rs199514554	GRCh37: 17:41836054-41836054 GRCh38: 17:43758686-43758686
35	SOST	NM_025237.3(SOST):c.*222A>G	SNV	Likely Benign	892297	rs544576964	GRCh37: 17:41832488-41832488 GRCh38: 17:43755120-43755120
36	SOST	NM_025237.3(SOST):c.*320C>T	SNV	Benign	892296	rs17883310	GRCh37: 17:41832390-41832390 GRCh38: 17:43755022-43755022
37	SOST	NM_025237.3(SOST):c.*178C>T	SNV	Benign	892300	rs116799821	GRCh37: 17:41832532-41832532 GRCh38: 17:43755164-43755164
38	SOST	NM_025237.3(SOST):c.28G>A (p.Val10Ile)	SNV	Benign	323442	rs17882143	GRCh37: 17:41836082-41836082 GRCh38: 17:43758714-43758714
39	SOST	NM_025237.3(SOST):c.*562G>A	SNV	Benign	323434	rs17881518	GRCh37: 17:41832148-41832148 GRCh38: 17:43754780-43754780
40	SOST	NM_025237.3(SOST):c.*866C>T	SNV	Benign	323433	rs75901553	GRCh37: 17:41831844-41831844 GRCh38: 17:43754476-43754476
41	SOST	NM_025237.3(SOST):c.*1394C>G	SNV	Benign	323428	rs75335214	GRCh37: 17:41831316-41831316 GRCh38: 17:43753948-43753948
42	SOST	NM_025237.3(SOST):c.*1004G>A	SNV	Benign	323432	rs17886183	GRCh37: 17:41831706-41831706 GRCh38: 17:43754338-43754338
43	SOST	NM_025237.3(SOST):c.220+3A>T	SNV	Not Provided	1327523		GRCh37: 17:41835887-41835887 GRCh38: 17:43758519-43758519
44	SOST	NM_025237.3(SOST):c.69C>T (p.Gly23=)	SNV	Not Provided	1342988		GRCh37: 17:41836041-41836041 GRCh38: 17:43758673-43758673
45	SOST	NM_025237.3(SOST):c.444_445delinsAA (p.Cys148_Pro149delinsTer)	INDEL	Not Provided	1342989		GRCh37: 17:41832907-41832908 GRCh38: 17:43755539-43755540
46	SOST	NM_025237.3(SOST):c.79C>T (p.Gln27Ter)	SNV	Not Provided	1342990		GRCh37: 17:41836031-41836031 GRCh38: 17:43758663-43758663
47	SOST	NM_025237.3(SOST):c.220+1G>C	SNV	Not Provided	1342992		GRCh37: 17:41835889-41835889 GRCh38: 17:43758521-43758521
48	SOST	NM_025237.3(SOST):c.296dup (p.Val100fs)	DUP	Not Provided	1342993		GRCh37: 17:41833055-41833056 GRCh38: 17:43755687-43755688
49	SOST	NM_025237.3(SOST):c.371G>A (p.Trp124Ter)	SNV	Not Provided	1342994		GRCh37: 17:41832981-41832981 GRCh38: 17:43755613-43755613
50	SOST	NM_025237.3(SOST):c.499T>C (p.Cys167Arg)	SNV	Not Provided	1676279		GRCh37: 17:41832853-41832853 GRCh38: 17:43755485-43755485

UniProtKB/Swiss-Prot genetic disease variations for Sclerosteosis 1:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	SOST	p.Cys167Arg	VAR_063982

Sources

Expression for Sclerosteosis 1

Search GEO for disease gene expression data for Sclerosteosis 1.

Sources

Pathways for Sclerosteosis 1

Pathways related to Sclerosteosis 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Vitamin D receptor pathway ⁷⁴	11.6	TNFRSF11B SOSTDC1 BGLAP
2	RUNX2 regulates bone development ⁶⁶ Show member pathways RUNX2 regulates chondrocyte maturation ⁶⁶ RUNX2 regulates osteoblast differentiation ⁶⁶	11.15	SP7 BGLAP
3	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²²	10.97	TNFRSF11B BGLAP
4	Clock-controlled autophagy in bone metabolism ⁷⁴	10.83	TNFRSF11B SP7 SOST CHRD
5	Type I collagen synthesis in the context of osteogenesis imperfecta ⁷⁴	10.78	TNFRSF11B SP7
6	OSX and miRNAs in tooth development ⁷⁴	10.65	SP7 SOST DMP1

Sources

GO Terms for Sclerosteosis 1

Cellular components related to Sclerosteosis 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:0005615	9.8	VWC2L TNFRSF11B SOSTDC1 SOST DAND5 CHRD
2	extracellular region	GO:0005576	9.44	VWC2L TNFRSF11B SOSTDC1 SOST DMP1 DAND5

Biological processes related to Sclerosteosis 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	skeletal system development	GO:0001501	9.88	TNFRSF11B CHRD BGLAP
2	negative regulation of canonical Wnt signaling pathway	GO:0090090	9.85	SOSTDC1 SOST LRP4
3	negative regulation of ossification	GO:0030279	9.62	SOST LRP4
4	biomineral tissue development	GO:0031214	9.61	DMP1 BGLAP
5	ossification	GO:0001503	9.55	SOST DMP1 BGLAP
6	negative regulation of BMP signaling pathway	GO:0030514	9.32	VWC2L SOSTDC1 SOST DAND5 CHRD
7	response to inorganic substance	GO:0010035	9.26	TNFRSF11B BGLAP
8	cellular response to zinc ion starvation	GO:0034224	9.26	SP7 BGLAP

Molecular functions related to Sclerosteosis 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	BMP binding	GO:0036122	9.1	SOSTDC1 SOST CHRD

Sources

Sources for Sclerosteosis 1

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

SOST1 MCID: SCL045 MIFTS: 52	Sclerosteosis 1 (SOST1) Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Sclerosteosis 1 (SOST1)

Aliases & Classifications for Sclerosteosis 1

MalaCards integrated aliases for Sclerosteosis 1:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Sclerosteosis 1

Related Diseases for Sclerosteosis 1

Diseases in the Sclerosteosis family:

Diseases related to Sclerosteosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Sclerosteosis 1:

Symptoms & Phenotypes for Sclerosteosis 1

Human phenotypes related to Sclerosteosis 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Sclerosteosis 1:

MGI Mouse Phenotypes related to Sclerosteosis 1:

Drugs & Therapeutics for Sclerosteosis 1

Drugs for Sclerosteosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Sclerosteosis 1

Genetic tests related to Sclerosteosis 1:

Anatomical Context for Sclerosteosis 1

Organs/tissues related to Sclerosteosis 1:

Publications for Sclerosteosis 1

Articles related to Sclerosteosis 1:

Genes for Sclerosteosis 1

Genes related to Sclerosteosis 1 (1 elite genes):

Variations for Sclerosteosis 1

ClinVar genetic disease variations for Sclerosteosis 1:

UniProtKB/Swiss-Prot genetic disease variations for Sclerosteosis 1:

Expression for Sclerosteosis 1

Pathways for Sclerosteosis 1

Pathways related to Sclerosteosis 1 according to GeneCards Suite gene sharing:

GO Terms for Sclerosteosis 1

Cellular components related to Sclerosteosis 1 according to GeneCards Suite gene sharing:

Biological processes related to Sclerosteosis 1 according to GeneCards Suite gene sharing:

Molecular functions related to Sclerosteosis 1 according to GeneCards Suite gene sharing:

Sources for Sclerosteosis 1