MCID: DVL004
MIFTS: 19

Developmental Dysplasia of Hip malady

Summaries for Developmental Dysplasia of Hip

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33MalaCards
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MalaCards: Developmental Dysplasia of Hip, also known as congenital dysplasia of hip, is related to congenital torticollis and clubfoot. 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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43NIH Rare Diseases
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Aliases & Descriptions:

developmental dysplasia of hip 43
congenital dysplasia of hip 43


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 18)
idRelated DiseaseScoreTop Affiliating Genes
1congenital torticollis10.3
2clubfoot10.0TBX4
3degenerative disc disease10.0ASPN
4brachydactyly10.0COL2A1
5tracheal stenosis10.0TBX4
6lumbar disc disease10.0VDR
7rickets10.0VDR
8marfan syndrome10.0FBN1
9williams syndrome10.0FBN1, VDR
10myopia 610.0FBN1, COL2A1
11osteoporosis, postmenopausal10.0VDR, ESR1
12short stature10.0FBN1, COL2A1
13rheumatoid arthritis10.0COL2A1, ASPN, HOXD9
14osteoarthritis10.0COL2A1, VDR, ASPN
15connective tissue disease10.0COL2A1, FBN1
16osteoporosis10.0COL2A1, VDR, ESR1
17arthritis10.0VDR, FBN1, COL2A1
18ehlers-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

Drugs & Therapeutics for Developmental Dysplasia of Hip

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Developmental Dysplasia of Hip

Animal Models for Developmental Dysplasia of Hip or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Developmental Dysplasia of Hip

Genetic Variations for Developmental Dysplasia of Hip

Expression for genes affiliated with Developmental Dysplasia of Hip

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

Search GEO for disease gene expression data for Developmental Dysplasia of Hip.

Pathways for genes affiliated with Developmental Dysplasia of Hip

Sources:
12EMD Millipore, 38NCBI BioSystems Database, 54Reactome, 30KEGG, 52QIAGEN
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Compounds for genes affiliated with Developmental Dysplasia of Hip

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 50PharmGKB, 29IUPHAR, 24HMDB, 2BitterDB
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Compounds related to Developmental Dysplasia of Hip according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1xbai459.6VDR, ESR1
2eb 108945 6010.5VDR, ESR1
3bicalutamide45 60 1111.5ESR1, VDR
4alendronate45 50 1111.4VDR, ESR1
54-hydroxytamoxifen459.4VDR, ESR1
6raloxifene45 29 50 1112.3VDR, ESR1
7hydroxyproline45 11 2411.2COL2A1, FBN1
8ascorbic acid45 2410.2COL2A1, VDR, FBN1
9chloramphenicol45 2 1111.2ESR1, COL2A1, VDR
10vitamin d458.7ESR1, VDR, FBN1, COL2A1
11retinoic acid45 248.9ESR1, COL2A1, FBN1, VDR, HOXD9

GO Terms for genes affiliated with Developmental Dysplasia of Hip

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Developmental Dysplasia of Hip

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