Autosomal Recessive Cutis Laxa Type Ii Classic Type

Alias:
Arcl2, Classic Type
Arcl2, Debre Type
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Autosomal Recessive Cutis Laxa Type 2, Debre Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Recessive Cutis Laxa Type Ii Classic Type, also known as arcl2, classic type, is related to cutis laxa, autosomal recessive, type iid and cutis laxa, autosomal recessive, type iia. An important gene associated with Autosomal Recessive Cutis Laxa Type Ii Classic Type is ATP6V0A2 (ATPase H+ Transporting V0 Subunit A2), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Extracellular matrix organization. Affiliated tissues include skin and bone, and related phenotypes are delayed closure of the anterior fontanelle and failure to thrive
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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21
171
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Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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References Literature

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