Cutis Laxa, Autosomal Dominant 3 (ADCL3)

Alias:
Adcl3
Autosomal Dominant Cutis Laxa 3
Cutis Laxa, Autosomal Dominant, 3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cutis Laxa, Autosomal Dominant 3, also known as adcl3, is related to autosomal recessive cutis laxa type i and autosomal recessive cutis laxa type iii. An important gene associated with Cutis Laxa, Autosomal Dominant 3 is ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include skin, and related phenotypes are unilateral renal agenesis and aortic regurgitation
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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7
28
12

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
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