MCID: SKL017
MIFTS: 47

Skeletal Dysplasias malady

Bone category

Summaries for Skeletal Dysplasias

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 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. Related mouse phenotypes are limbs/digits/tail and reproductive system.

Aliases & Classifications for Skeletal Dysplasias

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 45Novoseek, 61UMLS
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Classifications:

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


Aliases & Descriptions:

skeletal dysplasias 43 20 22
skeletal dysplasia 45 61


Related Diseases for Skeletal Dysplasias

Sources:
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 277)
idRelated DiseaseScoreTop Affiliating Genes
1thanatophoric dysplasia30.5COMP, STAT1, FGFR2, FGFR3, PTH1R
2achondroplasia30.5NPPC, FGFR2, FGFR3, ACAN, PTH1R, SOX9
3polydactyly30.3EVC2, FGFR2
4short stature30.3COMP, COL2A1, CTSK, FGFR3, ROR2
5hypochondroplasia30.3FGFR3, FGFR2
6brachydactyly30.2COMP, COL2A1, RUNX2, FGFR3, ROR2
7dwarfism30.2COMP, COL2A1, SOX9, NPPC, STAT1, FGFR2
8osteogenesis imperfecta30.1PTH1R, FGFR3, COL2A1
9x-linked spondyloepiphyseal dysplasia tarda29.8ACAN, FGFR3, COL2A1
10muenke syndrome29.8FGFR3, FGFR2
11cleft palate29.8FGFR2, SOX9, COL2A1
12crouzon syndrome29.8FGFR2, FGFR3
13campomelic dysplasia29.8SOX9, COL2A1
14platyspondylic lethal skeletal dysplasia torrance type10.6
15hydrops, ectopic calcification, moth-eaten skeletal dysplasia10.5
16spondyloepiphyseal dysplasia with congenital joint dislocations10.5
17renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia10.4
18mental retardation-skeletal dysplasia10.3
19camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia10.3
20mental retardation skeletal dysplasia abducens palsy10.3
21short syndrome10.2
22achondroplasia and severe combined immunodeficiency10.2
23camptodactyly joint contractures and facial skeletal dysplasia10.2
24epimetaphyseal skeletal dysplasia10.2
25lethal short limb skeletal dysplasia al gazali type10.2
26rhyns syndrome10.2
27mental retardation10.2
28skeletal dysplasia - intellectual deficit10.2
29skeletal dysplasia - epilepsy - short stature10.2
30acanthosis nigricans10.2
31cartilage-hair hypoplasia10.2
32atelosteogenesis10.2
33n syndrome10.2
34battaglia neri syndrome10.2
35chondrodysplasia10.2
36spondylometaphyseal dysplasia kozlowski type10.2
37gracile bone dysplasia10.2
38hirsutism skeletal dysplasia mental retardation10.2
39melnick-needles syndrome10.2
40pierre robin syndrome skeletal dysplasia polydactyly10.2
41hirsutism - skeletal dysplasia - intellectual deficit10.2
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

Drugs & Therapeutics for Skeletal Dysplasias

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
20GeneTests, 22GTR
See all sources

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

Animal Models for Skeletal Dysplasias or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Skeletal Dysplasias:

37 (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

Sources:
51PubMed
See all sources

Articles related to Skeletal Dysplasias:

(show top 50)    (show all 169)
idTitleAuthorsYear
1
Microarray for skeletal dysplasias: thanatophoric dysplasia diagnosed in utero using microarray technology. (22744731)
2013
2
Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century. (23657117)
2013
3
Neonatal skeletal dysplasias. (22395727)
2012
4
Molecular defects causing skeletal dysplasias. (21865756)
2011
5
A review of the principles of radiological assessment of skeletal dysplasias. (22155458)
2011
6
The skeletal dysplasias. (20556869)
2010
7
Skeletal dysplasias associated with mild myopathy-a clinical and molecular review. (20508815)
2010
8
Pattern and prenatal diagnosis of skeletal dysplasias in Qatar population. (20350243)
2010
9
Skeletal dysplasias: 38 prenatal cases. (18990981)
2008
10
COL2A1-related skeletal dysplasias with predominant metaphyseal involvement. (17163530)
2007
11
Severe neurological complications in skeletal dysplasias: two case reports. (17035051)
2006
12
Hereditary skeletal dysplasias and FGFR3 and PTHR1 signaling pathways]. (16274647)
2005
13
Newer imaging modalities in the prenatal diagnosis of skeletal dysplasias. (15287046)
2004
14
Skeletal dysplasias reveal genes of importance in skeletal development and structure. (12952205)
2003
15
Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias. (12768559)
2003
16
The skeletal dysplasias. (12464233)
2002
17
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias. (11727031)
2001
18
"Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias. (11200997)
2001
19
Osteogenesis imperfecta and other skeletal dysplasias presenting with increased nuchal translucency in the first trimester. (11223845)
2001
20
From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor]. (11414167)
2001
21
Skeletal dysplasias with gracile bones: three new cases, including two offspring of a mother with a dwarfing condition. (9511974)
1998
22
Ultrasonographic prediction of fetal outcome in suspected skeletal dysplasias with use of the femur length-to-abdominal circumference ratio. (9822527)
1998
23
Coronal and sagittal clefts in skeletal dysplasias. (9799298)
1998
24
Health-related quality of life of patients with genetic skeletal dysplasias. (9504784)
1998
25
Sonographic measurement of the fetal rib cage perimeter to thoracic circumference ratio: application to prenatal diagnosis of skeletal dysplasias. (9383879)
1997
26
Suspected skeletal dysplasias: femur length to abdominal circumference ratio can be used in ultrasonographic prediction of fetal outcome. (9369835)
1997
27
Short-limb skeletal dysplasias and craniosynostosis: what do they have in common? (9133360)
1997
28
Skeletal dysplasias: response to growth hormone therapy. (8887131)
1996
29
Standard method of diagnosis versus use of a computer database in the evaluation of skeletal dysplasias. (8929303)
1996
30
Skeletal Dysplasias: An Approach to Diagnosis. (10790666)
1995
31
Skeletal dysplasias in a hospital in southern India. (8613334)
1995
32
Computer diagnosis of skeletal dysplasias and malformation syndromes. (7734815)
1994
33
Fetal imaging in the skeletal dysplasias: overview and experience. (7700717)
1994
34
Fetal biometry of skeletal dysplasias: a multicentric study. (7877211)
1994
35
Fetal biometry of skeletal dysplasias: a multicentric study. (7880297)
1994
36
Diagnostic imaging update in skeletal dysplasias. (8364797)
1993
37
Classification of skeletal dysplasias. (1785308)
1991
38
Ratios between growth parameters for the prenatal ultrasonographic diagnosis of skeletal dysplasias. (2406168)
1990
39
Specific skeletal dysplasias in utero: sonographic diagnosis. (3513248)
1986
40
The mouse skeletal mutants: models for the human skeletal dysplasias. (4059229)
1985
41
Structural changes of collagen fibrils in skeletal dysplasias. Ultrastructural findings in the iliac crest. (3919500)
1985
42
Ultrasonographic diagnosis of second-trimester skeletal dysplasias: a prospective analysis in a high-risk population. (6842677)
1983
43
Pattern of intra- and extracellular disorders in skeletal dysplasias: comparative morphological studies on the supportive tissue. (6819577)
1982
44
An introduction to ancient Greek genetics and Skeletal Dysplasias. (6761696)
1982
45
Variable expressivity in the skeletal dysplasias. (526594)
1979
46
Dermatoglyphs in skeletal dysplasias. (917958)
1977
47
The craniotubular bone modeling disorders: a neurosurgical introduction to rare skeletal dysplasias with cranial nerve compression. (847638)
1977
48
"New" skeletal dysplasias in the newborn: new X-ray findings. (4618132)
1974
49
Dysplasia spondyloepiphysaria congenita and related generalized skeletal dysplasias among children with severe visual handicaps. (5803642)
1969
50
The skull in skeletal dysplasias. (13987415)
1963

Genetic Variations for Skeletal Dysplasias

Expression for genes affiliated with Skeletal Dysplasias

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
53R&D Systems, 38NCBI BioSystems Database, 54Reactome, 52QIAGEN, 12EMD Millipore
See all sources

Compounds for genes affiliated with Skeletal Dysplasias

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Skeletal Dysplasias according to GeneCards/GeneDecks:

(show top 50)    (show all 60)
idCompoundScoreTop Affiliating Genes
1pge24510.8PTH1R, ACAN
2procollagen4510.8COL2A1, ACAN
3pentosidine4510.8COMP, COL2A1, ACAN
4dexamethasone45 50 29 1113.8COL2A1, NPPC, LBR, CYP17A1, ACAN, PTH1R
5alginate4510.8COMP, COL2A1, SOX9, ACAN
6chondroitin sulfate45 2411.7COMP, SOX9, CTSK, FGFR2, ACAN
7pyridinoline4510.7COMP, COL2A1, PTHLH
8dbc-amp4510.7PTHLH, PTH1R, CYP17A1, LBR
9glycosaminoglycan4510.7COMP, COL2A1, SOX9, GUSB, FGFR2, ACAN
10sulfate45 2411.7COMP, COL2A1, CTSK, GUSB, FGFR2, FGFR3
11pd 1615706010.7FGFR2, FGFR3
12phenylalanine4510.7CTSK, LBR, STAT1, FLNA, CYP17A1, FGFR2
13fiin 1 hydrochloride6010.7FGFR2, FGFR3
14agarose4510.7COMP, COL2A1, LBR, ACAN
15su 54026010.7FGFR2, FGFR3
16genistein45 29 60 2 11 2415.7NPPC, LBR, GUSB, STAT1, CYP17A1, FGFR2
17ribonucleic acid4510.7RUNX2, SOX9, CYP17A1, FGFR2, PTH1R, PTHLH
18serine4510.6COL2A1, RUNX2, SOX9, CTSK, STAT1, FLNA
1912-o-tetradecanoylphorbol 13-acetate4510.6PTHLH, FGFR2, CYP17A1, STAT1, LBR
20thymidine45 2411.6RUNX2, NPPC, LBR, CYP17A1, FGFR2, PTH1R
21tgf beta14510.6PTHLH, ACAN, RUNX2, COMP
22su54024510.6FGFR3, FGFR2
23proline4510.6COMP, SOX9, CTSK, STAT1, CYP17A1, FGFR2
24cycloheximide4510.6COL2A1, RUNX2, SOX9, LBR, STAT1, CYP17A1
25pd 98,0594510.6RUNX2, STAT1, CYP17A1, FGFR2, ACAN
26oligonucleotide4510.6COMP, COL2A1, RUNX2, STAT1, FLNA, CYP17A1
27arginine4510.6COL2A1, LBR, STAT1, CYP17A1, FGFR2, FGFR3
28cysteine4510.6COMP, COL2A1, NPPC, CTSK, LBR, STAT1
29cyclic amp45 2411.6PTHLH, PTH1R, CYP17A1, LBR, SOX9, RUNX2
30tyrosine4510.6NPPC, CTSK, LBR, STAT1, CYP17A1, FGFR2
31nitric oxide45 11 2412.6COL2A1, RUNX2, NPPC, LBR, STAT1, FGFR2
32testosterone45 60 11 2413.6SOX9, NPPC, LBR, CYP17A1, FGFR2, PTHLH
33threonine4510.6NPPC, STAT1, CYP17A1, FGFR2, FGFR3, PTH1R
34vitamin d4510.6PTHLH, COMP, COL2A1, RUNX2, LBR, STAT1
35steroid4510.6COMP, RUNX2, SOX9, LBR, STAT1, CYP17A1
36forskolin45 50 1112.6NPPC, LBR, CYP17A1, PTH1R, PTHLH
37oxygen45 2411.6COL2A1, RUNX2, SOX9, CTSK, STAT1, CYP17A1
38lipid4510.6COMP, COL2A1, RUNX2, NPPC, LBR, STAT1
39glucose4510.5COMP, RUNX2, NPPC, LBR, STAT1, FGFR2
40dermatan sulfate4510.5ACAN, GUSB, COMP
41retinoic acid45 2411.5NPPC, SOX9, RUNX2, COL2A1, COMP, CTSK
42hydrogen45 2411.5COMP, CTSK, CYP17A1, PTH1R, PTHLH
43calcium45 50 11 2413.5CTSK, NPPC, RUNX2, COL2A1, COMP, LBR
44lysine4510.4COL2A1, STAT1, FGFR2, FGFR3, PTHLH
45vegf4510.4RUNX2, SOX9, STAT1, FGFR2, FGFR3, PTHLH
46pd 17307445 6011.4FGFR3, FGFR2
47zinc45 2411.3COL2A1, RUNX2, SOX9, LBR, STAT1, CYP17A1
48leucine4510.3PTH1R, ACAN, CYP17A1, LBR, CTSK
49strontium ranelate4510.3CTSK, RUNX2
50palifermin45 1111.1FGFR2, FGFR3

GO Terms for genes affiliated with Skeletal Dysplasias

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
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Sources for Skeletal Dysplasias

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet