MCID: SKL017
MIFTS: 42

Skeletal Dysplasias malady

Bone diseases category

Summaries for Skeletal Dysplasias

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63Wikipedia, 32MalaCards
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Wikipedia:63 Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone... more...

MalaCards: Skeletal Dysplasias, also known as skeletal dysplasia, is related to thanatophoric dysplasia and achondroplasia. An important gene associated with Skeletal Dysplasias is LBR (lamin B receptor), and among its related pathways are Articular Cartilage Extracellular Matrix and Spinal Cord Injury. The compounds pge2 and procollagen have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and reproductive system.

Aliases & Classifications for Skeletal Dysplasias

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42NIH Rare Diseases, 20GeneTests, 22GTR, 44Novoseek, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone diseases


Aliases & Descriptions:

skeletal dysplasias 42 20 22
skeletal dysplasia 44 60


Related Diseases for Skeletal Dysplasias

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17GeneCards, 18GeneDecks
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Diseases related to Skeletal Dysplasias via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 265)
idRelated DiseaseScoreTop Affiliating Genes
1thanatophoric dysplasia30.5COMP, STAT1, FGFR2, FGFR3, PTH1R
2achondroplasia30.5NPPC, FGFR2, FGFR3, ACAN, PTH1R, SOX9
3craniosynostosis30.3RUNX2, FGFR2, FGFR3
4polydactyly30.3EVC2, FGFR2
5hypochondroplasia30.3FGFR3, FGFR2
6metaphyseal dysplasia30.2COL2A1, PTH1R, PTHLH
7brachydactyly30.2COMP, COL2A1, RUNX2, FGFR3, ROR2
8dwarfism30.2COMP, COL2A1, SOX9, NPPC, STAT1, FGFR2
9osteogenesis imperfecta30.1PTH1R, FGFR3, COL2A1
10x-linked spondyloepiphyseal dysplasia tarda29.8ACAN, FGFR3, COL2A1
11sarcoma29.8GUSB, STAT1
12syndactyly29.8FGFR2, FGFR3, ROR2
13muenke syndrome29.8FGFR3, FGFR2
14cleft palate29.8FGFR2, SOX9, COL2A1
15crouzon syndrome29.8FGFR2, FGFR3
16hyperparathyroidism29.8PTHLH
17campomelic dysplasia29.8SOX9, COL2A1
18hydrops, ectopic calcification, moth-eaten skeletal dysplasia10.6
19platyspondylic lethal skeletal dysplasia torrance type10.5
20spondyloepiphyseal dysplasia with congenital joint dislocations10.5
21renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia10.4
22camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia10.2
23mental retardation skeletal dysplasia abducens palsy10.2
24congenital disorder of glycosylation10.2
25achondroplasia and severe combined immunodeficiency10.2
26camptodactyly joint contractures and facial skeletal dysplasia10.2
27epimetaphyseal skeletal dysplasia10.2
28lethal short limb skeletal dysplasia al gazali type10.2
29skeletal dysplasia - intellectual deficit10.2
30acanthosis nigricans10.1
31cartilage-hair hypoplasia10.1
32atelosteogenesis10.1
33battaglia neri syndrome10.1
34fountain syndrome10.1
35spondylometaphyseal dysplasia kozlowski type10.1
36hirsutism skeletal dysplasia mental retardation10.1
37melnick-needles syndrome10.1
38opsismodysplasia10.1
39pierre robin syndrome skeletal dysplasia polydactyly10.1
40skeletal dysplasia - epilepsy - short stature10.1
41hirsutism - skeletal dysplasia - intellectual deficit10.1
42neurofibromatosis10.1
43cutis laxa10.1
44spondyloepiphyseal dysplasia congenita10.1
45ellis-van creveld syndrome10.1
46brachyolmia10.1
47retinitis pigmentosa10.1
48osteopoikilosis10.1
49achondrogenesis type ib10.1
50progeria10.1

Graphical network of the top 20 diseases related to Skeletal Dysplasias:



Diseases related to skeletal dysplasias

Clinical Features for Skeletal Dysplasias

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Drugs & Therapeutics for Skeletal Dysplasias

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Skeletal Dysplasias

Drug clinical trials:

Search ClinicalTrials for Skeletal Dysplasias

Search NIH Clinical Center for Skeletal Dysplasias

Search CenterWatch for Skeletal Dysplasias

Genetic Tests for Skeletal Dysplasias

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20GeneTests, 22GTR
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Genetic tests related to Skeletal Dysplasias:

id Genetic test Affiliating Genes
1 Skeletal Dysplasia Multi-Gene Panels20
2 Skeletal Dysplasia22

Anatomical Context for Skeletal Dysplasias

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32MalaCards
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MalaCards organs/tissues related to Skeletal Dysplasias:

32
Bone

Animal Models for Skeletal Dysplasias or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Skeletal Dysplasias:

36 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.6COL2A1, COMP, NPPC, GUSB, ROR2, EVC2
2MP:000538910.6RUNX2, NPPC, GUSB, FLNA, FGFR2, FGFR3
3MP:000537710.5COL2A1, SOX9, GUSB, FGFR3, ROR2, ACAN
4MP:000538810.5COL2A1, RUNX2, CTSK, LBR, FLNA, FGFR2
5MP:000537910.5RUNX2, CTSK, LBR, GUSB, FGFR2, ROR2
6MP:001077110.4LBR, GUSB, FGFR2
7MP:000539110.4COL2A1, RUNX2, SOX9, LBR, STAT1, FLNA
8MP:000538110.4STAT1, LBR, SOX9, RUNX2, COL2A1, FLNA
9MP:000537510.4ROR2, GUSB, COL2A1
10MP:000539010.4PTHLH, ACAN, EVC2, ROR2, FGFR3, FGFR2
11MP:000538210.4COL2A1, PTHLH, PTH1R, ACAN, EVC2, ROR2
12MP:000538610.4COMP, COL2A1, SOX9, LBR, GUSB, STAT1
13MP:000363110.3LBR, NPPC, SOX9, RUNX2, COL2A1, STAT1
14MP:000538710.3CTSK, SOX9, RUNX2, COL2A1, COMP, LBR
15MP:000537810.3LBR, CTSK, NPPC, SOX9, RUNX2, COL2A1
16MP:000538510.3COL2A1, RUNX2, SOX9, STAT1, FLNA, FGFR2
17MP:000287310.3COMP, COL2A1, SOX9, GUSB, STAT1, FLNA
18MP:000537610.3GUSB, LBR, CTSK, NPPC, SOX9, RUNX2
19MP:000538410.3RUNX2, SOX9, CTSK, LBR, GUSB, STAT1
20MP:000539710.3LBR, CTSK, SOX9, RUNX2, GUSB, STAT1
21MP:000301210.3FGFR3, FGFR2, STAT1, LBR, SOX9, RUNX2
22MP:001076810.2STAT1, GUSB, LBR, NPPC, SOX9, RUNX2
23MP:000537010.2COL2A1, RUNX2, STAT1, FLNA, FGFR2, ACAN
24MP:000536710.0COL2A1, SOX9, GUSB, FGFR2, FGFR3, PTHLH

Publications for Skeletal Dysplasias

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Genetic Variations for Skeletal Dysplasias

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Expression for genes affiliated with Skeletal Dysplasias

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Skeletal Dysplasias

Search GEO for disease gene expression data for Skeletal Dysplasias.

Pathways for genes affiliated with Skeletal Dysplasias

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52R&D Systems, 37NCBI BioSystems Database, 53Reactome, 51QIAGEN, 12EMD Millipore
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Compounds for genes affiliated with Skeletal Dysplasias

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Skeletal Dysplasias according to GeneCards/GeneDecks:

(show top 50)    (show all 60)
idCompoundScoreTop Affiliating Genes
1pge24410.8PTH1R, ACAN
2procollagen4410.8COL2A1, ACAN
3pentosidine4410.8COL2A1, ACAN, COMP
4dexamethasone44 49 28 1113.8ACAN, PTH1R, CYP17A1, LBR, NPPC, COL2A1
5alginate4410.8COMP, SOX9, COL2A1, ACAN
6chondroitin sulfate44 2411.7ACAN, CTSK, SOX9, COMP, FGFR2
7pyridinoline4410.7PTHLH, COL2A1, COMP
8dbc-amp4410.7PTH1R, LBR, PTHLH, CYP17A1
9glycosaminoglycan4410.7COMP, SOX9, FGFR2, ACAN, GUSB, COL2A1
10sulfate44 2411.7CTSK, COMP, COL2A1, FGFR3, ACAN, FGFR2
11su 54025910.7FGFR2, FGFR3
12phenylalanine4410.7CTSK, LBR, FGFR3, FGFR2, CYP17A1, FLNA
13fiin 1 hydrochloride5910.7FGFR3, FGFR2
14agarose4410.7ACAN, COMP, COL2A1, LBR
15pd 1615705910.7FGFR3, FGFR2
16genistein44 28 59 2 11 2415.7STAT1, GUSB, FGFR2, CYP17A1, LBR, NPPC
17ribonucleic acid4410.7PTHLH, RUNX2, FGFR2, CYP17A1, SOX9, PTH1R
18serine4410.6FLNA, FGFR3, STAT1, CTSK, PTH1R, RUNX2
1912-o-tetradecanoylphorbol 13-acetate4410.6STAT1, PTHLH, CYP17A1, LBR, FGFR2
20thymidine44 2411.6CYP17A1, LBR, NPPC, RUNX2, PTH1R, PTHLH
21tgf beta14410.6COMP, RUNX2, ACAN, PTHLH
22su54024410.6FGFR2, FGFR3
23proline4410.6CTSK, CYP17A1, STAT1, SOX9, PTH1R, ACAN
24cycloheximide4410.6COL2A1, RUNX2, STAT1, CYP17A1, PTHLH, SOX9
25pd 98,0594410.6ACAN, FGFR2, CYP17A1, STAT1, RUNX2
26oligonucleotide4410.6CYP17A1, FLNA, FGFR3, FGFR2, COMP, COL2A1
27arginine4410.6FGFR3, FGFR2, COL2A1, PTHLH, CYP17A1, STAT1
28cysteine4410.6COMP, COL2A1, NPPC, CTSK, LBR, STAT1
29cyclic amp44 2411.6RUNX2, SOX9, PTHLH, PTH1R, LBR, CYP17A1
30tyrosine4410.6PTHLH, NPPC, CTSK, LBR, STAT1, CYP17A1
31nitric oxide44 11 2412.6PTHLH, PTH1R, ACAN, FGFR2, STAT1, RUNX2
32testosterone44 59 11 2413.6SOX9, CYP17A1, FGFR2, PTHLH, NPPC, LBR
33threonine4410.6NPPC, STAT1, FGFR3, PTHLH, PTH1R, FGFR2
34vitamin d4410.6FGFR2, STAT1, ACAN, PTH1R, PTHLH, COL2A1
35steroid4410.6PTHLH, RUNX2, SOX9, LBR, STAT1, CYP17A1
36forskolin44 49 1112.6LBR, PTHLH, PTH1R, CYP17A1, NPPC
37oxygen44 2411.6PTHLH, SOX9, CTSK, COL2A1, RUNX2, STAT1
38lipid4410.6PTHLH, FGFR3, FGFR2, CYP17A1, FLNA, STAT1
39glucose4410.5PTHLH, COMP, RUNX2, NPPC, FGFR2, LBR
40dermatan sulfate4410.5ACAN, GUSB, COMP
41retinoic acid44 2411.5STAT1, COMP, COL2A1, RUNX2, SOX9, NPPC
42hydrogen44 2411.5CYP17A1, COMP, PTHLH, CTSK, PTH1R
43calcium44 49 11 2413.5CTSK, NPPC, COL2A1, COMP, GUSB, RUNX2
44lysine4410.4FGFR2, COL2A1, STAT1, FGFR3, PTHLH
45vegf4410.4FGFR3, PTHLH, FGFR2, STAT1, SOX9, RUNX2
46pd 17307444 5911.4FGFR2, FGFR3
47zinc44 2411.3CYP17A1, LBR, SOX9, RUNX2, STAT1, COL2A1
48leucine4410.3CYP17A1, ACAN, LBR, CTSK, PTH1R
49strontium ranelate4410.3CTSK, RUNX2
50palifermin44 1111.1FGFR3, FGFR2

GO Terms for genes affiliated with Skeletal Dysplasias

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16Gene Ontology
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Cellular components related to Skeletal Dysplasias according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral to nuclear inner membraneGO:00563910.4LEMD3, LBR
2extracellular regionGO:0055769.9PTHLH, COMP, COL2A1, NPPC, CTSK, FLNA

Biological processes related to Skeletal Dysplasias according to GeneCards/GeneDecks:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1limb bud formationGO:06017410.7FGFR2, SOX9, COL2A1
2cartilage condensationGO:00150210.7ROR2, SOX9, COL2A1
3chondrocyte differentiationGO:00206210.7PTH1R, FGFR3, COL2A1
4endochondral ossificationGO:00195810.7COL2A1, RUNX2, FGFR3, PTHLH
5osteoblast developmentGO:00207610.7RUNX2, PTH1R, PTHLH
6positive regulation of phospholipase activityGO:01051810.7FGFR2, FGFR3
7positive regulation of canonical Wnt receptor signaling pathwayGO:09026310.7ROR2, FGFR3, FGFR2
8positive regulation of mesenchymal cell proliferationGO:00205310.6SOX9, STAT1, FGFR2
9negative regulation of mitosisGO:04583910.6FGFR2, FGFR3
10extracellular matrix organizationGO:03019810.6COMP, COL2A1, SOX9, CTSK, ACAN
11skeletal system developmentGO:00150110.6PTHLH, PTH1R, ACAN, FGFR3, SOX9, COL2A1
12inner ear morphogenesisGO:04247210.6ROR2, FGFR2, COL2A1
13lens fiber cell developmentGO:07030710.6FGFR2, FGFR3
14positive regulation of cell proliferationGO:00828410.6RUNX2, SOX9, FGFR2, FGFR3, PTH1R, PTHLH
15negative regulation of cell proliferationGO:00828510.6NPPC, FGFR2, ROR2, PTH1R, PTHLH
16regulation of fibroblast growth factor receptor signaling pathwayGO:04003610.6RUNX2, FGFR2
17otic vesicle formationGO:03091610.5SOX9, FGFR2
18notochord developmentGO:03090310.5COL2A1, SOX9
19ossificationGO:00150310.4NPPC, SOX9, RUNX2
20tissue homeostasisGO:00189410.4SOX9, COL2A1
21negative regulation of chondrocyte differentiationGO:03233110.4SOX9, PTHLH
22positive regulation of chondrocyte differentiationGO:03233210.3SOX9, RUNX2
23cellular response to BMP stimulusGO:07177310.1RUNX2, COL2A1

Molecular functions related to Skeletal Dysplasias according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peptide hormone receptor bindingGO:05142810.4PTHLH, NPPC
2fibroblast growth factor-activated receptor activityGO:00500710.1FGFR3, FGFR2

Products for genes affiliated with Skeletal Dysplasias

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Sources for Skeletal Dysplasias

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet