MCID: CMP011
MIFTS: 11

Campomelic Dysplasia with Autosomal Sex Reversal malady

Summaries for Campomelic Dysplasia with Autosomal Sex Reversal

Sources:
47OMIM, 33MalaCards
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MalaCards: Campomelic Dysplasia with Autosomal Sex Reversal is related to campomelic dysplasia. An important gene associated with Campomelic Dysplasia with Autosomal Sex Reversal is SOX9 (SRY (sex determining region Y)-box 9), and among its related pathways is GPCR Pathway. The compound steroid have been mentioned in the context of this disorder.

Description from OMIM:47 114290

Aliases & Classifications for Campomelic Dysplasia with Autosomal Sex Reversal

Sources:
47OMIM
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Aliases & Descriptions:

campomelic dysplasia with autosomal sex reversal 47


Related Diseases for Campomelic Dysplasia with Autosomal Sex Reversal

Sources:
17GeneCards, 18GeneDecks
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Diseases in the campomelic dysplasia family:

campomelic dysplasia with autosomal sex reversal

Diseases related to Campomelic Dysplasia with Autosomal Sex Reversal via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1campomelic dysplasia30.6SOX9

Clinical Features for Campomelic Dysplasia with Autosomal Sex Reversal

Sources:
47OMIM
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Clinical features from OMIM:

114290

Clinical synopsis from OMIM:

114290

Drugs & Therapeutics for Campomelic Dysplasia with Autosomal Sex Reversal

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Campomelic Dysplasia with Autosomal Sex Reversal

Drug clinical trials:

Search ClinicalTrials for Campomelic Dysplasia with Autosomal Sex Reversal

Search NIH Clinical Center for Campomelic Dysplasia with Autosomal Sex Reversal

Search CenterWatch for Campomelic Dysplasia with Autosomal Sex Reversal

Genetic Tests for Campomelic Dysplasia with Autosomal Sex Reversal

Anatomical Context for Campomelic Dysplasia with Autosomal Sex Reversal

Animal Models for Campomelic Dysplasia with Autosomal Sex Reversal or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Campomelic Dysplasia with Autosomal Sex Reversal

Genetic Variations for Campomelic Dysplasia with Autosomal Sex Reversal

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Campomelic Dysplasia with Autosomal Sex Reversal:

63 (show all 16)
id Symbol AA change Variation SNP ID
1SOX9p.Pro108LeuVAR_003735
2SOX9p.Phe112LeuVAR_003736
3SOX9p.Phe112SerVAR_003737
4SOX9p.Ala119ValVAR_003738
5SOX9p.Trp143ArgVAR_003739
6SOX9p.Arg152ProVAR_003740
7SOX9p.Pro170ArgVAR_003741
8SOX9p.Phe154LeuVAR_008529
9SOX9p.Ala158ThrVAR_008530
10SOX9p.His165TyrVAR_008531rs28940282
11SOX9p.Ala76GluVAR_063642
12SOX9p.Met113ThrVAR_063643
13SOX9p.Met113ValVAR_063644
14SOX9p.His165GlnVAR_063645
15SOX9p.Pro170LeuVAR_063646
16SOX9p.Lys173GluVAR_063647

Expression for genes affiliated with Campomelic Dysplasia with Autosomal Sex Reversal

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Campomelic Dysplasia with Autosomal Sex Reversal

Search GEO for disease gene expression data for Campomelic Dysplasia with Autosomal Sex Reversal.

Pathways for genes affiliated with Campomelic Dysplasia with Autosomal Sex Reversal

Sources:
52QIAGEN
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Pathways related to Campomelic Dysplasia with Autosomal Sex Reversal according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1SRA1, KPNB1

Compounds for genes affiliated with Campomelic Dysplasia with Autosomal Sex Reversal

Sources:
45Novoseek
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Compounds related to Campomelic Dysplasia with Autosomal Sex Reversal according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1steroid459.0SRA1, SOX9

GO Terms for genes affiliated with Campomelic Dysplasia with Autosomal Sex Reversal

Sources:
16Gene Ontology
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Cellular components related to Campomelic Dysplasia with Autosomal Sex Reversal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.0SRA1, SOX9

Biological processes related to Campomelic Dysplasia with Autosomal Sex Reversal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of transcription from RNA polymerase II promoterGO:0459449.0SRA1, SOX9

Products for genes affiliated with Campomelic Dysplasia with Autosomal Sex Reversal

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Campomelic Dysplasia with Autosomal Sex Reversal

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