Kindler Syndrome (KNDLRS)

Alias:
Poikiloderma of Kindler
Congenital Bullous Poikiloderma
Kindler Epidermolysis Bullosa
Bullous Acrokeratotic Poikiloderma of Kindler and Weary
Poikiloderma Congenital with Bullae Weary Type
Kindler's Syndrome
Kndlrs
Hereditary Acrokeratotic Poikiloderma of Kindler-Weary
Poikiloderma, Congenital, with Bullae, Weary Type
Poikiloderma, Hereditary Acrokeratotic
Hereditary Acrokeratotic Poikiloderma
Poikiloderma Hereditary Acrokeratotic
Potassium Deficiency
Weary Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Kindler Syndrome, also known as poikiloderma of kindler, is related to epidermolysis bullosa and skin disease, and has symptoms including grooving of nail An important gene associated with Kindler Syndrome is FERMT1 (FERM Domain Containing Kindlin 1), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drugs Mifepristone and Progesterone have been mentioned in the context of this disorder. Affiliated tissues include skin and colon, and related phenotypes are ichthyosis and palmoplantar keratoderma
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
16
151
59

Medical Symptom

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Description
HPO Frequency
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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
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References Literature

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