Cutis Laxa, Autosomal Recessive, Type Ia (ARCL1A)

Alias:
Cutis Laxa, Autosomal Recessive
Arcl1a
Cutis Laxa, Autosomal Recessive, Type 1a
Autosomal Recessive Cutis Laxa Type Ia
Cutis Laxa, Autosomal Recessive, Type I
Cutis Laxa Autosomal Recessive Type Ia
Cutis Laxa Autosomal Recessive Type I
Cutis Laxa, Autosomal Recessive, 1a
Cl Type I
Arcl1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cutis Laxa, Autosomal Recessive, Type Ia, also known as cutis laxa, autosomal recessive, is related to cutis laxa, autosomal recessive, type iiib and cutis laxa, autosomal recessive, type iiia. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Ia is FBLN5 (Fibulin 5), and among its related pathways/superpathways are ERK Signaling and Phospholipase-C Pathway. Affiliated tissues include skin and lung, and related phenotypes are recurrent respiratory infections and emphysema
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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8
57
25

Medical Symptom

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

Gene & Mutation

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Gene
Function
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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