SOST1
MCID: SCL045
MIFTS: 35

Sclerosteosis 1 (SOST1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

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:



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)

Related Diseases for Sclerosteosis 1

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



Diseases related to Sclerosteosis 1

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 Frequency 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

Drugs & Therapeutics for Sclerosteosis 1

Search Clinical Trials , NIH Clinical Center for Sclerosteosis 1

Genetic Tests for Sclerosteosis 1

Genetic tests related to Sclerosteosis 1:

# Genetic test Affiliating Genes
1 Sclerosteosis 1 29 SOST

Anatomical Context for Sclerosteosis 1

MalaCards organs/tissues related to Sclerosteosis 1:

41
Bone, Medulla Oblongata, Kidney, Prostate

Publications for Sclerosteosis 1

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

Expression for Sclerosteosis 1

Search GEO for disease gene expression data for Sclerosteosis 1.

Pathways for Sclerosteosis 1

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 for Sclerosteosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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