Trichomegaly (TCMGLY)

Alias:
Long Eyelashes
Goldstein Hutt Syndrome
Tcmgly
Eyelashes, Long
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Trichomegaly, also known as long eyelashes, is related to familial isolated trichomegaly and hypertrichosis. An important gene associated with Trichomegaly is FGF5 (Fibroblast Growth Factor 5), and among its related pathways/superpathways are Regulation of actin cytoskeleton and Transcription Ligand-dependent activation of the ESR1/SP pathway. Affiliated tissues include retina and lung, and related phenotypes are cataract and long eyelashes
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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5
51
3

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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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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