SOST1
MCID: SCL045
MIFTS: 52

Sclerosteosis 1 (SOST1)

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



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.

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:



Diseases related to Sclerosteosis 1

Symptoms & Phenotypes for Sclerosteosis 1

Human phenotypes related to Sclerosteosis 1:

30 (show all 40)
# Description HPO Frequency Orphanet 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

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

Genetic Tests for Sclerosteosis 1

Genetic tests related to Sclerosteosis 1:

# Genetic test Affiliating Genes
1 Sclerosteosis 1 28 SOST

Anatomical Context for Sclerosteosis 1

Organs/tissues related to Sclerosteosis 1:

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

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
11179006 2001
2
Sclerosteosis: report of a case in a black African man. 62 57 5
9712543 1998
3
A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis. 62 5
25984533 2015
4
The natural history of sclerosteosis. 62 57
12694228 2003
5
Dental and oral manifestations of sclerosteosis. 62 57
11570544 2001
6
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). 62 5
11181578 2001
7
Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21. 62 57
10330353 1999
8
Sclerosteosis. 62 57
3351908 1988
9
The syndromic status of sclerosteosis and van Buchem disease. 62 57
6323069 1984
10
Sclerosteosis: neurogenetic and pathophysiologic analysis of an American kinship. 62 57
6681869 1983
11
Sclerosteosis involving the temporal bone: clinical and radiologic aspects. 62 57
6673595 1983
12
Sclerosteosis in old age. 62 57
7404164 1980
13
Endocrine function in sclerosteosis. 62 57
225834 1979
14
Sclerosteosis - an autosomal recessive disorder. 62 57
187366 1977
15
The radiology of sclerosteosis. 62 57
188507 1976
16
The clinical features of sclerosteosis. A review of the manifestations in twenty-five affected individuals. 62 57
1259284 1976
17
Sclerosteosis. A case report. 62 57
163261 1975
18
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21. 57
9463328 1998
19
The neurologic manifestations of osteopetrosis (Albers-Schonberg's disease). 57
14033572 1963
20
Osteopetrosis with syndactyly; a morphological variant of Albers-Schönberg's disease. 57
13539104 1958
21
Albers-Schönberg disease; a family survey. 57
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
36017689 2022
23
Serum sclerostin levels in osteoporotic fracture patients. 62
35705746 2022
24
Directed evolution identifies high-affinity cystine-knot peptide agonists and antagonists of Wnt/β-catenin signaling. 62
36343233 2022
25
Sclerostin antibody promotes bone formation through the Wnt/β-catenin signaling pathway in femoral trochlear after patellar instability. 62
36379907 2022
26
Associations between biomarkers of cellular senescence and physical function in humans: observations from the lifestyle interventions for elders (LIFE) study. 62
36367600 2022
27
The effects of prostaglandin E2 on gene expression of IDG-SW3-derived osteocytes in 2D and 3D culture. 62
36126467 2022
28
Canonical Wnt/β-catenin signaling has positive effects on osteogenesis, but can have negative effects on cementogenesis. 62
35642884 2022
29
Sclerostin ablation prevents aortic valve stenosis in mice. 62
36240434 2022
30
Targeted postnatal knockout of Sclerostin using a bone-targeted adeno-associated viral vector increases bone anabolism and decreases canalicular density. 62
36462771 2022
31
WNT-modulating gene silencers as a gene therapy for osteoporosis, bone fracture, and critical-sized bone defects. 62
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
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
35902072 2022
34
Potential donor-dependent regulative effects of endogenous sclerostin expression and mineralization potential in primary human PDL cells in vitro. 62
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
36262297 2022
36
Sclerostin immunohistochemical staining in surgically treated giant cell tumor of bone. 62
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
35963563 2022
38
Multi-omics characterization reveals the pathogenesis of liver focal nodular hyperplasia. 62
36060063 2022
39
Skeletal Effects of Inducible ERα Deletion in Osteocytes in Adult Mice. 62
35789113 2022
40
Effect of flavonoids from Rhizoma Drynariae on osteoporosis rats and osteocytes. 62
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
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
35974380 2022
43
Associations of serum sclerostin levels with body composition, pulmonary function, and exacerbations in COPD patients. 62
35963832 2022
44
Identifying Causes of Fracture Beyond Bone Mineral Density: Evidence From Human Genetics. 62
35689460 2022
45
Regulation of sclerostin by the SIRT1 stabilization pathway in osteocytes. 62
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
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
35762300 2022
48
Evidence for the major contribution of remodeling-based bone formation in sclerostin-deficient mice. 62
35381389 2022
49
Optimizing Tenogenic Differentiation of Equine Adipose-Derived Mesenchymal Stem Cells (eq-ASC) Using TGFB3 Along with BMP Antagonists. 62
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
35593309 2022

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

Expression for Sclerosteosis 1

Search GEO for disease gene expression data for Sclerosteosis 1.

Pathways for Sclerosteosis 1

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 for Sclerosteosis 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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