Ichthyosis, Lamellar, Autosomal Dominant (ADLI)

Alias:
Lamellar Ichthyosis, Autosomal Dominant
Autosomal Dominant Lamellar Ichthyosis
Adli
Ichthyosis Lamellar, Autosomal Dominant
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ichthyosis, Lamellar, Autosomal Dominant, also known as lamellar ichthyosis, autosomal dominant, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and autosomal recessive congenital ichthyosis. An important gene associated with Ichthyosis, Lamellar, Autosomal Dominant is ASPRV1 (Aspartic Peptidase Retroviral Like 1). Affiliated tissues include skin and liver, and related phenotypes are hyperkeratosis and pruritus
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
4
7

Medical Symptom

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

Gene & Mutation

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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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IF
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