MCID: SKL017
MIFTS: 39

Skeletal Dysplasias malady

Genetic diseases, Rare diseases, Bone diseases categories
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Summaries for Skeletal Dysplasias

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65Wikipedia, 33MalaCards
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Wikipedia:65 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 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, heart and eye, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Aliases & Classifications for Skeletal Dysplasias

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43NIH Rare Diseases, 20GeneTests, 22GTR, 45Novoseek, 62UMLS
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Classifications:

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


Aliases & Descriptions:

skeletal dysplasias 43 20 22
skeletal dysplasia 45 62


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 226)
idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia30.6FGFR3, NPPC
2hypochondroplasia30.4FGFR3, SHOX
3cartilage-hair hypoplasia30.3COL10A1, RMRP
4dwarfism30.3FGFR3, NPPC, SHOX
5short stature30.1FGFR3, RMRP, MATN3, COL10A1, SHOX
6metaphyseal dysplasia30.1COL10A1, NKX3-2, RMRP
7hydrops, ectopic calcification, moth-eaten skeletal dysplasia10.6
8platyspondylic lethal skeletal dysplasia torrance type10.6
9spondyloepiphyseal dysplasia with congenital joint dislocations10.5
10thanatophoric dysplasia10.4
11renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia10.4
12craniosynostosis10.3
13camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia10.3
14mental retardation skeletal dysplasia abducens palsy10.3
15skeletal dysplasia, san diego type10.3
16polydactyly10.2
17congenital disorder of glycosylation10.2
18achondroplasia and severe combined immunodeficiency10.2
19camptodactyly joint contractures and facial skeletal dysplasia10.2
20epimetaphyseal skeletal dysplasia10.2
21lethal short limb skeletal dysplasia al gazali type10.2
22mental retardation10.2
23acanthosis nigricans10.2
24brachydactyly10.2
25atelosteogenesis10.2
26battaglia neri syndrome10.2
27chondrodysplasia10.2
28fountain syndrome10.2
29hirsutism skeletal dysplasia mental retardation10.2
30melnick-needles syndrome10.2
31microcephalic osteodysplastic primordial dwarfism type 110.2
32opsismodysplasia10.2
33pierre robin syndrome skeletal dysplasia polydactyly10.2
34spondylometaphyseal dysplasia kozlowski type10.2
35thanatophoric dysplasia type 110.2
36short rib-polydactyly syndrome10.2
37skeletal dysplasia - intellectual disability10.2
38skeletal dysplasia - epilepsy - short stature10.2
39hirsutism - skeletal dysplasia - intellectual disability10.2
40neurofibromatosis10.1
41osteopoikilosis10.1
42cutis laxa10.1
43spondyloepiphyseal dysplasia congenita10.1
44ellis-van creveld syndrome10.1
45brachyolmia10.1
46osteogenesis imperfecta10.1
47progeria10.1
48achondrogenesis type ib10.1
49achondrogenesis10.1
50acromicric dysplasia10.1

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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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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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33MalaCards
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MalaCards organs/tissues related to Skeletal Dysplasias:

33
Bone, Heart, Eye

Animal Models for Skeletal Dysplasias or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Skeletal Dysplasias:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5COL10A1, NKX3-2, NPPC, FGFR3
2MP:00053718.3FGFR3, NPPC, NKX3-2, MATN3, COL10A1
3MP:00107688.3FGFR3, NPPC, RMRP, NKX3-2, COL10A1
4MP:00053908.2COL10A1, MATN3, NKX3-2, NPPC, FGFR3
5MP:00053787.9COL10A1, MATN3, NKX3-2, NPPC, FGFR3

Publications for Skeletal Dysplasias

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52PubMed
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Articles related to Skeletal Dysplasias:

(show top 50)    (show all 266)
idTitleAuthorsYear
1
Interactive digital atlas of skeletal surveys for common skeletal dysplasias. (23455307)
2013
2
Neonatal skeletal dysplasias. (22395727)
2012
3
Analysis of skeletal dysplasias in the Utah population. (22461456)
2012
4
The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). (21863289)
2012
5
Clinical epidemiology of skeletal dysplasias in South America. (22407836)
2012
6
Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations. (21573172)
2011
7
Stuve-Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones. (21337444)
2011
8
In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males. (21484998)
2011
9
Systemic administration of C-type natriuretic peptide as a novel therapeutic strategy for skeletal dysplasias. (19282381)
2009
10
Skeletal dysplasias and the growth plate. (18070126)
2008
11
Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia. (18186139)
2008
12
Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. (18382993)
2008
13
Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage. (19088846)
2008
14
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. (17525745)
2007
15
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
16
Total hip arthroplasty in skeletal dysplasias: patient selection, preoperative planning, and operative techniques. (14716642)
2004
17
Do not overlook Weismann-Netter syndrome in differential diagnosis of skeletal dysplasias. (15083704)
2004
18
Mouse models orthologous to FGFR3-related skeletal dysplasias. (12687892)
2003
19
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias. (11727031)
2001
20
"Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias. (11200997)
2001
21
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
22
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
23
Cloning and expression of type II collagen mRNA: evaluation as a candidate for canine oculo-skeletal dysplasia. (11024291)
2000
24
Spinal manifestations of skeletal dysplasias. (10393771)
1999
25
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. (10377013)
1999
26
Prenatal sonographic diagnosis of skeletal dysplasias--a report of the diagnostic and prognostic accuracy in 35 cases. (9602482)
1998
27
Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. (9869286)
1998
28
Sonographic measurement of the fetal rib cage perimeter to thoracic circumference ratio: application to prenatal diagnosis of skeletal dysplasias. (9383879)
1997
29
Neurologic abnormalities in the skeletal dysplasias: a clinical and radiological perspective. (9066881)
1997
30
Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome? (9375913)
1997
31
Craniosynostosis and skeletal dysplasias: fibroblast growth factor receptor defects. (8834060)
1996
32
A new lethal skeletal dysplasia or the severe end of the atelosteogenesis spectrum? (8781111)
1996
33
Progress in medical genetics: map-based gene discovery and the molecular pathology of skeletal dysplasias. (8723094)
1996
34
Skeletal Dysplasias: An Approach to Diagnosis. (10790666)
1995
35
Computer diagnosis of skeletal dysplasias and malformation syndromes. (7734815)
1994
36
Diagnosis and management of skeletal dysplasias. (7985041)
1994
37
Fetal imaging in the skeletal dysplasias: overview and experience. (7700717)
1994
38
Orthopedic aspects of skeletal dysplasia in children. (8374657)
1993
39
Cephalo-skeletal dysplasia and microcephalic osteodysplastic primordial dwarfism. (1437384)
1992
40
Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome) (1605263)
1992
41
New skeletal dysplasia with unique brachydactyly. (1632443)
1992
42
20th anniversary, Clinical Genetics Conference. Heritable disorders of connective tissue and skeletal dysplasias. July 10-13, 1988, Baltimore, Maryland. Proceedings. (2816988)
1989
43
A practical radiologic approach to skeletal dysplasias in infancy. (3118409)
1987
44
Diagnosis of fetal skeletal dysplasias with ultrasound. (7065020)
1982
45
Skeletal dysplasia, hyperpigmentation, cutis laxa, endocrine abnormality, and mental retardation--the Patterson syndrome. (7163277)
1982
46
Histochemical, immunohistochemical, and lectin studies in undecalcified iliac crest growth plate in skeletal dysplasias. (6298816)
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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2BioGPS, 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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50PathCards, 38NCBI BioSystems Database
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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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16Gene Ontology
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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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Sources for Skeletal Dysplasias

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet