MCID: CMP011
MIFTS: 19

Campomelic Dysplasia with Autosomal Sex Reversal malady

Genetic diseases (common) category
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Summaries for Campomelic Dysplasia with Autosomal Sex Reversal

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MalaCards based summary: Campomelic Dysplasia with Autosomal Sex Reversal is related to campomelic dysplasia, and has symptoms including 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:46 114290

Aliases & Classifications for Campomelic Dysplasia with Autosomal Sex Reversal

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Campomelic Dysplasia with Autosomal Sex Reversal, Aliases & Descriptions:

Name: Campomelic Dysplasia with Autosomal Sex Reversal 46 62


Classifications:

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


Related Diseases for Campomelic Dysplasia with Autosomal Sex Reversal

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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 dysplasia30.9SOX9

Symptoms for Campomelic Dysplasia with Autosomal Sex Reversal

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Symptoms by clinical synopsis from OMIM:

114290

Clinical features from OMIM:

114290

HPO human phenotypes related to Campomelic Dysplasia with Autosomal Sex Reversal:

(show all 39)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hydronephrosis HP:0000126
3 cleft palate HP:0000175
4 hydrocephalus HP:0000238
5 macrocephaly HP:0000256
6 wide anterior fontanel HP:0000260
7 small face HP:0000274
8 hypertelorism HP:0000316
9 micrognathia HP:0000347
10 high forehead HP:0000348
11 hearing impairment HP:0000365
12 low-set ears HP:0000369
13 blepharophimosis HP:0000581
14 11 pairs of ribs HP:0000878
15 hypoplastic scapulae HP:0000882
16 thin ribs HP:0000883
17 muscular hypotonia HP:0001252
18 failure to thrive HP:0001508
19 polyhydramnios HP:0001561
20 talipes equinovarus HP:0001762
21 respiratory distress HP:0002098
22 apnea HP:0002104
23 malformation of the heart and great vessels HP:0002564
24 kyphoscoliosis HP:0002751
25 tracheobronchomalacia HP:0002786
26 hip dislocation HP:0002827
27 hypoplastic iliac wings HP:0002866
28 fibular hypoplasia HP:0003038
29 shortening of all phalanges of the toes HP:0005035
30 thoracic hypoplasia HP:0005257
31 depressed nasal bridge HP:0005280
32 anterior tibial bowing HP:0006390
33 absent sternal ossification HP:0006628
34 hypoplastic cervical vertebrae HP:0008434
35 poorly ossified cervical vertebrae HP:0008477
36 neonatal short-limb short stature HP:0008921
37 shortening of all phalanges of fingers HP:0011910
38 sex reversal HP:0012245
39 short palpebral fissure HP:0012745

Drugs & Therapeutics for Campomelic Dysplasia with Autosomal Sex Reversal

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Drug clinical trials:

Search ClinicalTrials for Campomelic Dysplasia with Autosomal Sex Reversal

Search NIH Clinical Center 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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MalaCards organs/tissues related to Campomelic Dysplasia with Autosomal Sex Reversal:

32
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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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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UniProtKB/Swiss-Prot genetic disease variations for Campomelic Dysplasia with Autosomal Sex Reversal:

64 (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:

6
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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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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Sources:
44Novoseek
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Compounds related to Campomelic Dysplasia with Autosomal Sex Reversal according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1steroid449.1SRA1, SOX9

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

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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
  • Proteins
  • Lysates

Sources for Campomelic Dysplasia with Autosomal Sex Reversal

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet