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

SOST1 MCID: SCL045 MIFTS: 35	Sclerosteosis 1 (SOST1) Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Sclerosteosis 1

MalaCards integrated aliases for Sclerosteosis 1:

Name: Sclerosteosis 1 ⁵⁷ ¹² ⁷⁵ ²⁹ ⁶ ¹⁵

Sost1 ⁵⁷ ¹² ⁷⁵

Cortical Hyperostosis with Syndactyly ⁵⁷ ⁷⁵

Sclerosteosis ⁷⁵ ⁷³

Sost ⁵⁷ ⁷⁵

Sclerosteosis, Type 1 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

sclerosteosis 1:
Mortality/Aging sudden death
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the musculoskeletal system and connective tissue

Disorders of bone density and structure

Other disorders of bone density and structure

Hyperostosis of skull

External Ids:

OMIM ⁵⁷ 269500

Disease Ontology ¹² DOID:0060756

ICD10 ³³ M85.2

MedGen ⁴² C0265301

MeSH ⁴⁴ D015576

UMLS ⁷³ C0265301

Sources

Summaries for Sclerosteosis 1

UniProtKB/Swiss-Prot : ⁷⁵ Sclerosteosis 1: 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 sclerosteosis, and has symptoms including unspecified visual loss An important gene associated with Sclerosteosis 1 is SOST (Sclerostin). Affiliated tissues include bone, medulla oblongata and kidney, and related phenotypes are malar flattening and hypertelorism

Disease Ontology : ¹² A sclerosteosis that has material basis in homozygous mutation in the SOST gene on chromosome 17q21.

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)

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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 all 35)

#	Related Disease	Score	Top Affiliating Genes
1	van buchem disease	33.4	LRP4 SOST
2	sclerosteosis	32.9	LRP4 SOST
3	hyperostosis	32.0	LRP4 SOST
4	osteoporosis	31.9	SOST SP7
5	ischemic bone disease	31.5	SOST SP7
6	bone resorption disease	31.4	SOST SP7
7	sclerosteosis 2	31.4	LRP4 SOST
8	bone remodeling disease	31.4	SOST SP7
9	cenani-lenz syndactyly syndrome	31.3	LRP4 SOST
10	sost-related sclerosing bone dysplasias	12.2
11	craniodiaphyseal dysplasia	11.6
12	bone disease	11.6
13	craniodiaphyseal dysplasia, autosomal dominant	11.3
14	renal osteodystrophy	11.2
15	spondylitis	11.2
16	osteopetrosis, autosomal dominant 2	11.1
17	osteoporosis, juvenile	11.1
18	mass syndrome	11.1
19	osteogenesis imperfecta, type vi	11.1
20	impaired renal function disease	11.1
21	regular astigmatism	11.1
22	hypercementosis	11.1
23	kummell's disease	11.1
24	chromophobe renal cell carcinoma	10.1
25	polycystic kidney disease	10.1
26	bone mineral density quantitative trait locus 8	10.1
27	bone mineral density quantitative trait locus 15	10.1
28	trigeminal neuralgia	10.0
29	intracranial hypertension	10.0
30	hyperphalangy	10.0
31	prostate cancer	10.0
32	retinoblastoma	10.0
33	myelofibrosis	10.0
34	myeloma, multiple	10.0
35	glucocorticoid-induced osteoporosis	10.0

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

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Symptoms & Phenotypes for Sclerosteosis 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
hypertelorism
nystagmus
optic atrophy
proptosis
convergent strabismus
more

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

Growth Other:
overgrowth

Skeletal Spine:
sclerotic vertebral endplates
sclerotic pedicles

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

Head And Neck Ears:
deafness, secondary to cranial hyperostosis

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

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

Head And Neck Teeth:
dental malocclusion

Skin Nails Hair Nails:
nail dysplasia

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

Head And Neck Face:
midface hypoplasia
prognathism
frontal prominence

Growth Height:
gigantism, mild-moderate

Head And Neck Nose:
broad, flat nasal root

Skeletal Pelvis:
sclerotic pelvis

Clinical features from OMIM:

269500

Human phenotypes related to Sclerosteosis 1:

³² (show all 30)

#	Description	HPO Source Accession
1	malar flattening ³²	HP:0000272
2	hypertelorism ³²	HP:0000316
3	frontal bossing ³²	HP:0002007
4	nystagmus ³²	HP:0000639
5	facial palsy ³²	HP:0010628
6	mandibular prognathia ³²	HP:0000303
7	hearing impairment ³²	HP:0000365
8	dental malocclusion ³²	HP:0000689
9	increased intracranial pressure ³²	HP:0002516
10	depressed nasal bridge ³²	HP:0005280
11	wide nasal bridge ³²	HP:0000431
12	optic atrophy ³²	HP:0000648
13	cognitive impairment ³²	HP:0100543
14	broad ribs ³²	HP:0000885
15	visual loss ³²	HP:0000572
16	abnormality of pelvic girdle bone morphology ³²	HP:0002644
17	midface retrusion ³²	HP:0011800
18	nail dysplasia ³²	HP:0002164
19	proptosis ³²	HP:0000520
20	headache ³²	HP:0002315
21	constriction of peripheral visual field ³²	HP:0001133
22	deviation of finger ³²	HP:0004097
23	esotropia ³²	HP:0000565
24	overgrowth ³²	HP:0001548
25	2-3 finger syndactyly ³²	HP:0001233
26	sclerotic vertebral endplates ³²	HP:0004576
27	broad clavicles ³²	HP:0000916
28	sclerotic scapulae ³²	HP:0001474
29	cortically dense long tubular bones ³²	HP:0006415
30	facial palsy secondary to cranial hyperostosis ³²	HP:0007285

UMLS symptoms related to Sclerosteosis 1:

unspecified visual loss

MGI Mouse Phenotypes related to Sclerosteosis 1:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail	MP:0005371	9.13	LRP4 SOST SP7
2	skeleton	MP:0005390	8.8	LRP4 SOST SP7

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Drugs & Therapeutics for Sclerosteosis 1

Search Clinical Trials , 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 ²⁹	SOST

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Anatomical Context for Sclerosteosis 1

MalaCards organs/tissues related to Sclerosteosis 1:

⁴¹

Bone, Medulla Oblongata, Kidney, Prostate

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Publications for Sclerosteosis 1

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Genes for Sclerosteosis 1

Genes related to Sclerosteosis 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SOST	Sclerostin	Protein Coding	1333.29	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	11179006 9712543 20301406 (more) 11181578
2	LRP4	LDL Receptor Related Protein 4	Protein Coding	16.44	DISEASES inferred ¹⁵
3	SP7	Sp7 Transcription Factor	Protein Coding	15.72	DISEASES inferred ¹⁵

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Variations for Sclerosteosis 1

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

⁷⁵

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

ClinVar genetic disease variations for Sclerosteosis 1:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SOST	NM_025237.2(SOST): c.70C> T (p.Gln24Ter)	single nucleotide variant	Pathogenic	rs387906320	GRCh37	Chromosome 17, 41836040: 41836040
2	SOST	NM_025237.2(SOST): c.70C> T (p.Gln24Ter)	single nucleotide variant	Pathogenic	rs387906320	GRCh38	Chromosome 17, 43758672: 43758672
3	SOST	SOST, IVS1DS, A-T, +3 AND/OR IVS1AS, A-C, -67	single nucleotide variant	Pathogenic
4	SOST	NM_025237.2(SOST): c.372G> A (p.Trp124Ter)	single nucleotide variant	Pathogenic	rs104894644	GRCh37	Chromosome 17, 41832980: 41832980
5	SOST	NM_025237.2(SOST): c.372G> A (p.Trp124Ter)	single nucleotide variant	Pathogenic	rs104894644	GRCh38	Chromosome 17, 43755612: 43755612
6	SOST	NM_025237.2(SOST): c.376C> T (p.Arg126Ter)	single nucleotide variant	Pathogenic	rs104894645	GRCh37	Chromosome 17, 41832976: 41832976
7	SOST	NM_025237.2(SOST): c.376C> T (p.Arg126Ter)	single nucleotide variant	Pathogenic	rs104894645	GRCh38	Chromosome 17, 43755608: 43755608

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Expression for Sclerosteosis 1

Search GEO for disease gene expression data for Sclerosteosis 1.

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Pathways for Sclerosteosis 1

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GO Terms for Sclerosteosis 1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	Wnt signaling pathway	GO:0016055	9.16	LRP4 SOST
2	negative regulation of canonical Wnt signaling pathway	GO:0090090	8.96	LRP4 SOST
3	negative regulation of ossification	GO:0030279	8.62	LRP4 SOST

Sources

Sources for Sclerosteosis 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Sclerosteosis 1 (SOST1)

Aliases & Classifications for Sclerosteosis 1

MalaCards integrated aliases for Sclerosteosis 1:

Characteristics:

OMIM:

HPO:

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Sclerosteosis 1:

UMLS symptoms related to Sclerosteosis 1:

MGI Mouse Phenotypes related to Sclerosteosis 1:

Drugs & Therapeutics for Sclerosteosis 1

Genetic Tests for Sclerosteosis 1

Genetic tests related to Sclerosteosis 1:

Anatomical Context for Sclerosteosis 1

MalaCards organs/tissues related to Sclerosteosis 1:

Publications for Sclerosteosis 1

Genes for Sclerosteosis 1

Genes related to Sclerosteosis 1 (1 elite genes):

Variations for Sclerosteosis 1

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

ClinVar genetic disease variations for Sclerosteosis 1:

Expression for Sclerosteosis 1

Pathways for Sclerosteosis 1

GO Terms for Sclerosteosis 1

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

Sources for Sclerosteosis 1