MCID: CMP011
MIFTS: 19

Campomelic Dysplasia with Autosomal Sex Reversal malady

Genetic diseases (common) category

Summaries for Campomelic Dysplasia with Autosomal Sex Reversal

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48OMIM, 34MalaCards
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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). The compound steroid have been mentioned in the context of this disorder. Affiliated tissues include bone.

Description from OMIM:48 114290

Aliases & Classifications for Campomelic Dysplasia with Autosomal Sex Reversal

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48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

campomelic dysplasia with autosomal sex reversal 48


Related Diseases for Campomelic Dysplasia with Autosomal Sex Reversal

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18GeneCards, 19GeneDecks
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Diseases related to Campomelic Dysplasia with Autosomal Sex Reversal via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1campomelic dysplasia30.7SOX9

Symptoms for Campomelic Dysplasia with Autosomal Sex Reversal

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48OMIM
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Symptoms by clinical synopsis from OMIM:

114290

Clinical features from OMIM:

114290

Drugs & Therapeutics for Campomelic Dysplasia with Autosomal Sex Reversal

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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

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Anatomical Context for Campomelic Dysplasia with Autosomal Sex Reversal

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34MalaCards
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MalaCards organs/tissues related to Campomelic Dysplasia with Autosomal Sex Reversal:

34
Bone

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

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Publications for Campomelic Dysplasia with Autosomal Sex Reversal

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53PubMed
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Articles related to Campomelic Dysplasia with Autosomal Sex Reversal:

idTitleAuthorsYear
1
Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal. (17185244)
2006

Variations for Campomelic Dysplasia with Autosomal Sex Reversal

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Campomelic Dysplasia with Autosomal Sex Reversal:

65 (show all 16)
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Campomelic Dysplasia with Autosomal Sex Reversal:

1
id Gene Name Type Significance SNP ID Assembly Location
1SOX9NM_000346.3(SOX9): c.1320C> A (p.Tyr440Ter)single nucleotide variantPathogenicrs80338688GRCh37Chr 17, 70120318: 70120318
2SOX9SOX9, 583C-Tsingle nucleotide variantPathogenic
3SOX9NM_000346.3(SOX9): c.736dupC (p.Gln246Profs)duplicationPathogenicGRCh37Chr 17, 70119734: 70119734
4SOX9NM_000346.3(SOX9): c.1320C> G (p.Tyr440Ter)single nucleotide variantPathogenicrs80338688GRCh37Chr 17, 70120318: 70120318
5SOX9SOX9, 30-BP DELdeletionPathogenic
6SOX9NM_000346.3(SOX9): c.462C> G (p.Phe154Leu)single nucleotide variantPathogenicrs137853129GRCh37Chr 17, 70118890: 70118890
7SOX9SOX9, 1-BP INS, 1103AinsertionPathogenic

Expression for genes affiliated with Campomelic Dysplasia with Autosomal Sex Reversal

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2BioGPS, 16Gene 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

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Compounds for genes affiliated with Campomelic Dysplasia with Autosomal Sex Reversal

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46Novoseek
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Compounds related to Campomelic Dysplasia with Autosomal Sex Reversal according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1steroid469.1SRA1, SOX9

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

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17Gene 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:0056679.1SRA1, 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:0459449.1SRA1, SOX9
2regulation of apoptotic processGO:0429818.8SRA1, SOX9

Products for genes affiliated with Campomelic Dysplasia with Autosomal Sex Reversal

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  • Antibodies
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Sources for Campomelic Dysplasia with Autosomal Sex Reversal

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet