Intellectual Developmental Disorder, Autosomal Dominant 56 (MRD56)

Alias:
Autosomal Dominant Intellectual Developmental Disorder 56
Mrd56
Intellectual Developmental Disorder, Autosomal Dominant, Type 56
Autosomal Dominant Intellectual Developmental Disorder-56
Intellectual Disability, Autosomal Dominant 56
Mental Retardation, Autosomal Dominant 56
Autosomal Dominant Mental Retardation 56
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Intellectual Developmental Disorder, Autosomal Dominant 56, also known as autosomal dominant intellectual developmental disorder 56, is related to psoriasis 15 and hypercholesterolemia, familial, 4. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 56 is CLTC (Clathrin Heavy Chain), and among its related pathways/superpathways are Golgi-to-ER retrograde transport and Vesicle-mediated transport. Affiliated tissues include brain and kidney, and related phenotypes are intellectual disability and global developmental delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
14
52
4

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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CAS Number
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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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