Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

Alias:
Cronkhite-Canada Syndrome
Gastrointestinal Polyposis-Skin Pigmentation-Alopecia-Fingernail Changes Syndrome
Gastrointestinal Polyposis-Ectodermal Changes Syndrome
Gastric Cronkhite Canada Polyposis
Polyposis Skin Pigmentation Alopecia Fingernail Changes
Polyposis, Gastrointestinal, with Ectodermal Changes
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes, also known as cronkhite-canada syndrome, is related to protein-losing enteropathy and nutritional deficiency disease, and has symptoms including abdominal pain, cachexia and diarrhea. An important gene associated with Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes is TMEM247 (Transmembrane Protein 247), and among its related pathways/superpathways are Proton Pump Inhibitor Pathway, Pharmacodynamics and Secretion of hydrochloric acid in parietal cells. Affiliated tissues include skin and colon, and related phenotypes are malabsorption and hypoplastic toenails
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Adult
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10
50
5

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
No Data Found!
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