Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly (CHDTHP)

Alias:
Ostravik-Lindemann-Solberg Syndrome
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Chdthp
Heart Defect - Tongue Hamartoma - Polysyndactyly Syndrome
Heart Defect, Tongue Hamartoma and Polysyndactyly
Heart Defects, Congential, Hamartomas of Tongue, and Polysyndactyly
Heart Defect Tongue Hamartoma Polysyndactyly
Orstavik Lindemann Solberg Syndrome
Hamartoma
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly, also known as ostravik-lindemann-solberg syndrome, is related to isolated focal cortical dysplasia type ii and multilocular clear cell renal cell carcinoma. An important gene associated with Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly is WDPCP (WD Repeat Containing Planar Cell Polarity Effector), and among its related pathways/superpathways are Akt Signaling and Regulation of TP53 Activity. The drugs Everolimus and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include tongue and heart, and related phenotypes are patent ductus arteriosus and subvalvular aortic stenosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
6
83
6

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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