Ayme-Gripp Syndrome (AYGRP)

Alias:
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
Fine-Lubinsky Syndrome
Aymé-Gripp Syndrome
Aygrp
Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome
Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ayme-Gripp Syndrome, also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, is related to cataract and brachycephaly, deafness, cataract, microstomia, and impaired intellectual development, and has symptoms including seizures An important gene associated with Ayme-Gripp Syndrome is MAF (MAF BZIP Transcription Factor), and among its related pathways/superpathways are AP-1 transcription factor network and Tacrolimus/Cyclosporine Pathway, Pharmacodynamics. Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and global developmental delay
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
<1/1000000
15
68
20

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

Name
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
Journal
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IF
No Data Found!
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