MCID: KLB002

Kleeblattschaedel Syndrome malady

Summaries for Kleeblattschaedel Syndrome

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33MalaCards
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MalaCards: Kleeblattschaedel Syndrome, also known as kleeblattschaedel deformity syndrome, is related to corneal intraepithelial dyskeratosis and ectodermal dysplasia and craniosynostosis 4. An important gene associated with Kleeblattschaedel Syndrome is FGFR3 (fibroblast growth factor receptor 3).

Aliases & Classifications for Kleeblattschaedel Syndrome

Sources:
43NIH Rare Diseases, 61UMLS
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Aliases & Descriptions:

kleeblattschaedel syndrome 43 61
kleeblattschaedel deformity syndrome 43
isolated cloverleaf skull syndrome 43
cloverleaf skull syndrome 43


Related Diseases for Kleeblattschaedel Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Kleeblattschaedel Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1corneal intraepithelial dyskeratosis and ectodermal dysplasia10.1
2craniosynostosis 410.1

Clinical Features for Kleeblattschaedel Syndrome

Drugs & Therapeutics for Kleeblattschaedel Syndrome

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

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Drug clinical trials:

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Genetic Tests for Kleeblattschaedel Syndrome

Anatomical Context for Kleeblattschaedel Syndrome

Animal Models for Kleeblattschaedel Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Kleeblattschaedel Syndrome

Genetic Variations for Kleeblattschaedel Syndrome

Expression for genes affiliated with Kleeblattschaedel Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Kleeblattschaedel Syndrome

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Pathways for genes affiliated with Kleeblattschaedel Syndrome

Compounds for genes affiliated with Kleeblattschaedel Syndrome

GO Terms for genes affiliated with Kleeblattschaedel Syndrome

Products for genes affiliated with Kleeblattschaedel Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Kleeblattschaedel Syndrome

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