MCID: DVL004
MIFTS: 23

Developmental Dysplasia of Hip malady

Summaries for Developmental Dysplasia of Hip

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32MalaCards
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MalaCards: Developmental Dysplasia of Hip, also known as congenital dysplasia of hip, is related to clubfoot and degenerative disc disease. An important gene associated with Developmental Dysplasia of Hip is ASPN (asporin), and among its related pathways are Development Hedgehog and PTH signaling pathways in bone and cartilage development and Regulation of nuclear SMAD2/3 signaling. The compounds xbai and eb 1089 have been mentioned in the context of this disorder. Related mouse phenotypes are limbs/digits/tail and craniofacial.

Aliases & Classifications for Developmental Dysplasia of Hip

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42NIH Rare Diseases
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Aliases & Descriptions:

developmental dysplasia of hip 42
congenital dysplasia of hip 42


Related Diseases for Developmental Dysplasia of Hip

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17GeneCards, 18GeneDecks
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Diseases related to Developmental Dysplasia of Hip via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1clubfoot10.0TBX4
2degenerative disc disease10.0ASPN
3brachydactyly10.0COL2A1
4tracheal stenosis10.0TBX4
5lumbar disc disease10.0VDR
6rickets10.0VDR
7marfan syndrome10.0FBN1
8williams syndrome10.0FBN1, VDR
9myopia 610.0FBN1, COL2A1
10osteoporosis, postmenopausal10.0VDR, ESR1
11short stature10.0FBN1, COL2A1
12rheumatoid arthritis10.0COL2A1, ASPN, HOXD9
13osteoarthritis10.0COL2A1, VDR, ASPN
14connective tissue disease10.0COL2A1, FBN1
15osteoporosis10.0COL2A1, VDR, ESR1
16arthritis10.0VDR, FBN1, COL2A1
17ehlers-danlos syndrome10.0COL2A1, FBN1

Graphical network of diseases related to Developmental Dysplasia of Hip:



Diseases related to developmental dysplasia of hip

Clinical Features for Developmental Dysplasia of Hip

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Drugs & Therapeutics for Developmental Dysplasia of Hip

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Developmental Dysplasia of Hip

Drug clinical trials:

Search ClinicalTrials for Developmental Dysplasia of Hip

Search NIH Clinical Center for Developmental Dysplasia of Hip

Search CenterWatch for Developmental Dysplasia of Hip

Genetic Tests for Developmental Dysplasia of Hip

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Anatomical Context for Developmental Dysplasia of Hip

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Animal Models for Developmental Dysplasia of Hip or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Developmental Dysplasia of Hip:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9PAPPA2, HOXD9, COL2A1
2MP:00053828.6COL2A1, PAPPA2, FBN1, VDR
3MP:00053677.8VDR, COL2A1, ESR1, FBN1, HOXD9
4MP:00053697.8ESR1, HOXD9, VDR, FBN1
5MP:00053857.7ESR1, COL2A1, TBX4, VDR, PAPPA2, FBN1
6MP:00053867.6ESR1, HOXD9, VDR, COL2A1, FBN1
7MP:00053897.6HOXD9, PAPPA2, ESR1, VDR, FBN1
8MP:00107687.2ESR1, HOXD9, VDR, FBN1, COL2A1, TBX4
9MP:00053906.9HOXD9, PAPPA2, VDR, TBX4, FBN1, COL2A1
10MP:00036316.9VDR, FBN1, TBX4, COL2A1, ESR1, PAPPA2

Publications for Developmental Dysplasia of Hip

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Genetic Variations for Developmental Dysplasia of Hip

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Expression for genes affiliated with Developmental Dysplasia of Hip

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Developmental Dysplasia of Hip

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Pathways for genes affiliated with Developmental Dysplasia of Hip

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12EMD Millipore, 37NCBI BioSystems Database, 53Reactome, 29KEGG, 51QIAGEN
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Compounds for genes affiliated with Developmental Dysplasia of Hip

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

(show all 11)
idCompoundScoreTop Affiliating Genes
1xbai449.6VDR, ESR1
2eb 108944 5910.5VDR, ESR1
3bicalutamide44 59 1111.5ESR1, VDR
4alendronate44 49 1111.4VDR, ESR1
54-hydroxytamoxifen449.4VDR, ESR1
6raloxifene44 28 49 1112.3VDR, ESR1
7hydroxyproline44 11 2411.2COL2A1, FBN1
8ascorbic acid44 2410.2COL2A1, VDR, FBN1
9chloramphenicol44 2 1111.2ESR1, COL2A1, VDR
10vitamin d448.7ESR1, VDR, FBN1, COL2A1
11retinoic acid44 248.9ESR1, COL2A1, FBN1, VDR, HOXD9

GO Terms for genes affiliated with Developmental Dysplasia of Hip

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16Gene Ontology
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Cellular components related to Developmental Dysplasia of Hip according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:0056049.5FBN1, COL2A1

Biological processes related to Developmental Dysplasia of Hip according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mammary gland branching involved in pregnancyGO:0607459.1ESR1, VDR
2skeletal system developmentGO:0015019.1VDR, FBN1, COL2A1

Molecular functions related to Developmental Dysplasia of Hip according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1steroid hormone receptor activityGO:0037079.4ESR1, VDR
2sequence-specific DNA binding transcription factor activityGO:0037007.9ESR1, HOXD9, VDR, TBX4

Products for genes affiliated with Developmental Dysplasia of Hip

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  • Antibodies
  • Proteins
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Sources for Developmental Dysplasia of Hip

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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