MCID: SKL017
MIFTS: 36

Skeletal Dysplasias malady

Rare diseases, Bone diseases categories
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Summaries for Skeletal Dysplasias

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Wikipedia:65 Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone... more...

MalaCards based summary: Skeletal Dysplasias is related to achondroplasia and hypochondroplasia. An important gene associated with Skeletal Dysplasias is RMRP (RNA component of mitochondrial RNA processing endoribonuclease), and among its related pathways is Endochondral Ossification. Affiliated tissues include bone, eye and heart, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Aliases & Classifications for Skeletal Dysplasias

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Skeletal Dysplasias, Aliases & Descriptions:

Name: Skeletal Dysplasias 42


Classifications:

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


Related Diseases for Skeletal Dysplasias

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

(show top 50)    (show all 224)
idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia30.7FGFR3, NPPC
2hypochondroplasia30.5FGFR3, SHOX
3cartilage-hair hypoplasia30.4COL10A1, RMRP
4dwarfism30.3FGFR3, NPPC, SHOX
5metaphyseal dysplasia30.0COL10A1, NKX3-2, RMRP
6skeletal dysplasia multi-gene panels29.9SHOX, COL10A1, RMRP, NPPC, FGFR3
7short stature29.7FGFR3, RMRP, MATN3, COL10A1, SHOX
8hydrops, ectopic calcification, moth-eaten skeletal dysplasia10.7
9platyspondylic lethal skeletal dysplasia torrance type10.6
10spondyloepiphyseal dysplasia with congenital joint dislocations10.6
11thanatophoric dysplasia10.4
12renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia10.4
13craniosynostosis10.3
14congenital disorder of glycosylation10.3
15achondroplasia and severe combined immunodeficiency10.3
16camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia10.3
17mental retardation skeletal dysplasia abducens palsy10.3
18skeletal dysplasia, san diego type10.3
19camptodactyly joint contractures and facial skeletal dysplasia10.2
20epimetaphyseal skeletal dysplasia10.2
21lethal short limb skeletal dysplasia al gazali type10.2
22microcephalic osteodysplastic primordial dwarfism type 110.2
23mental retardation10.2
24polydactyly10.2
25brachydactyly10.2
26atelosteogenesis10.2
27acanthosis nigricans10.2
28acromicric dysplasia10.2
29battaglia neri syndrome10.2
30chondrodysplasia10.2
31fountain syndrome10.2
32hirsutism skeletal dysplasia mental retardation10.2
33melnick-needles syndrome10.2
34opsismodysplasia10.2
35pierre robin syndrome skeletal dysplasia polydactyly10.2
36rhyns syndrome10.2
37spondylometaphyseal dysplasia kozlowski type10.2
38thanatophoric dysplasia type 110.2
39skeletal dysplasia - intellectual disability10.2
40skeletal dysplasia - epilepsy - short stature10.2
41hirsutism-skeletal dysplasia-intellectual disability syndrome10.2
42retinitis pigmentosa10.1
43spondyloepiphyseal dysplasia congenita10.1
44osteopoikilosis10.1
45ellis-van creveld syndrome10.1
46neurofibromatosis10.1
47brachyolmia10.1
48osteogenesis imperfecta10.1
49achondrogenesis type ia10.1
50cutis laxa10.1

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



Diseases related to skeletal dysplasias

Symptoms for Skeletal Dysplasias

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Drugs & Therapeutics for Skeletal Dysplasias

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Drug clinical trials:

Search ClinicalTrials for Skeletal Dysplasias

Search NIH Clinical Center for Skeletal Dysplasias

Genetic Tests for Skeletal Dysplasias

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Anatomical Context for Skeletal Dysplasias

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MalaCards organs/tissues related to Skeletal Dysplasias:

32
Bone, Eye, Heart

Animal Models for Skeletal Dysplasias or affiliated genes

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MGI Mouse Phenotypes related to Skeletal Dysplasias:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5FGFR3, COL10A1, NKX3-2, NPPC
2MP:00053718.3COL10A1, MATN3, NKX3-2, NPPC, FGFR3
3MP:00107688.3FGFR3, COL10A1, NKX3-2, RMRP, NPPC
4MP:00053908.2FGFR3, NPPC, NKX3-2, MATN3, COL10A1
5MP:00053787.9NKX3-2, COL10A1, MATN3, NPPC, FGFR3

Publications for Skeletal Dysplasias

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Articles related to Skeletal Dysplasias:

(show top 50)    (show all 277)
idTitleAuthorsYear
1
Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases. (24863959)
2014
2
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met. (25119967)
2014
3
Skeletal dysplasia with craniofacial deformity and disproportionate dwarfism in hair sheep of northeastern Brazil. (24447571)
2014
4
Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias. (25349664)
2014
5
Nationwide radiation dose survey of computed tomography for fetal skeletal dysplasias. (24737001)
2014
6
Interactive digital atlas of skeletal surveys for common skeletal dysplasias. (23455307)
2013
7
Neonatal skeletal dysplasias. (22395727)
2012
8
Analysis of skeletal dysplasias in the Utah population. (22461456)
2012
9
The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). (21863289)
2012
10
Clinical epidemiology of skeletal dysplasias in South America. (22407836)
2012
11
Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations. (21573172)
2011
12
Molecular defects causing skeletal dysplasias. (21865756)
2011
13
Systemic administration of C-type natriuretic peptide as a novel therapeutic strategy for skeletal dysplasias. (19282381)
2009
14
Skeletal dysplasias and the growth plate. (18070126)
2008
15
Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia. (18186139)
2008
16
Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. (18382993)
2008
17
Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage. (19088846)
2008
18
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. (17525745)
2007
19
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. (15643621)
2005
20
Total hip arthroplasty in skeletal dysplasias: patient selection, preoperative planning, and operative techniques. (14716642)
2004
21
Do not overlook Weismann-Netter syndrome in differential diagnosis of skeletal dysplasias. (15083704)
2004
22
Mouse models orthologous to FGFR3-related skeletal dysplasias. (12687892)
2003
23
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias. (11727031)
2001
24
"Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias. (11200997)
2001
25
Targeted disruption of the homeobox transcription factor Bapx1 results in lethal skeletal dysplasia with asplenia and gastroduodenal malformation. (10886375)
2000
26
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual. (10678662)
2000
27
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. (10696568)
2000
28
Cloning and expression of type II collagen mRNA: evaluation as a candidate for canine oculo-skeletal dysplasia. (11024291)
2000
29
Spinal manifestations of skeletal dysplasias. (10393771)
1999
30
Prenatal sonographic diagnosis of skeletal dysplasias--a report of the diagnostic and prognostic accuracy in 35 cases. (9602482)
1998
31
Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. (9869286)
1998
32
Sonographic measurement of the fetal rib cage perimeter to thoracic circumference ratio: application to prenatal diagnosis of skeletal dysplasias. (9383879)
1997
33
Craniosynostosis and skeletal dysplasias: fibroblast growth factor receptor defects. (8834060)
1996
34
A new lethal skeletal dysplasia or the severe end of the atelosteogenesis spectrum? (8781111)
1996
35
Progress in medical genetics: map-based gene discovery and the molecular pathology of skeletal dysplasias. (8723094)
1996
36
Skeletal Dysplasias: An Approach to Diagnosis. (10790666)
1995
37
Computer diagnosis of skeletal dysplasias and malformation syndromes. (7734815)
1994
38
Diagnosis and management of skeletal dysplasias. (7985041)
1994
39
Fetal imaging in the skeletal dysplasias: overview and experience. (7700717)
1994
40
Orthopedic aspects of skeletal dysplasia in children. (8374657)
1993
41
Cephalo-skeletal dysplasia and microcephalic osteodysplastic primordial dwarfism. (1437384)
1992
42
Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome) (1605263)
1992
43
New skeletal dysplasia with unique brachydactyly. (1632443)
1992
44
20th anniversary, Clinical Genetics Conference. Heritable disorders of connective tissue and skeletal dysplasias. July 10-13, 1988, Baltimore, Maryland. Proceedings. (2816988)
1989
45
A practical radiologic approach to skeletal dysplasias in infancy. (3118409)
1987
46
Diagnosis of fetal skeletal dysplasias with ultrasound. (7065020)
1982
47
Kyphosis secondary to skeletal dysplasias and metabolic disease. (413679)
1977
48
Dermatoglyphs in skeletal dysplasias. (917958)
1977
49
The craniotubular bone modeling disorders: a neurosurgical introduction to rare skeletal dysplasias with cranial nerve compression. (847638)
1977
50
Fine structure of skeletal dysplasia as seen in pseudoachondroplastic spondyloepiphyseal dysplasia and asphyxiating thoracic dystrophy. (4218773)
1974

Variations for Skeletal Dysplasias

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Expression for genes affiliated with Skeletal Dysplasias

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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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Pathways related to Skeletal Dysplasias according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0FGFR3, NKX3-2, COL10A1

Compounds for genes affiliated with Skeletal Dysplasias

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GO Terms for genes affiliated with Skeletal Dysplasias

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Cellular components related to Skeletal Dysplasias according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055789.3OPTC, MATN3

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

idNameGO IDScoreTop Affiliating Genes
1endochondral ossificationGO:0019589.6FGFR3, COL10A1
2skeletal system developmentGO:0015017.8FGFR3, NKX3-2, MATN3, COL10A1, SHOX

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.3OPTC, MATN3

Products for genes affiliated with Skeletal Dysplasias

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet