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 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 Rare diseases Fetal 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

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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 osteoporosis and osteogenesis imperfecta, type vi, and has symptoms including unspecified visual loss An important gene associated with Sclerosteosis 1 is SOST (Sclerostin). Affiliated tissues include bone and medulla oblongata, and related phenotypes are malar flattening and mandibular prognathia

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 16)

#	Related Disease	Score	Top Affiliating Genes
1	osteoporosis	30.5	SOST SP7
2	osteogenesis imperfecta, type vi	30.5	SOST SP7
3	van buchem disease	12.3
4	sost-related sclerosing bone dysplasias	12.1
5	sclerosteosis	11.9
6	craniodiaphyseal dysplasia	11.5
7	bone disease	11.5
8	hyperostosis	11.5
9	craniodiaphyseal dysplasia, autosomal dominant	11.2
10	renal osteodystrophy	11.0
11	spondylitis	11.0
12	sclerosteosis 2	11.0
13	cenani-lenz syndactyly syndrome	10.9
14	mass syndrome	10.9
15	bone resorption disease	9.3	SOST SP7
16	bone remodeling disease	9.2	SOST SP7

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 29)

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

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	8.62	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

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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	1332.93	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	11179006 20301406 9712543 (more) 11181578
2	SP7	Sp7 Transcription Factor	Protein Coding	16.16	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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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

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Sources for Sclerosteosis 1

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⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

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⁷⁶ Wikipedia