Alopecia, Neurologic Defects, and Endocrinopathy Syndrome (ANES)

Alias:
Ane Syndrome
Anes
Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome
Alopecia-Progressive Neurological Defect-Endocrinopathy
Endocrine System Diseases
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome, also known as ane syndrome, is related to alopecia and orofacial cleft 11, and has symptoms including pathological conditions, signs and symptoms, breast pain male and cushingoid facies. An important gene associated with Alopecia, Neurologic Defects, and Endocrinopathy Syndrome is RBM28 (RNA Binding Motif Protein 28), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and rRNA processing in the nucleus and cytosol. The drugs Zinc cation and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include pituitary and skin, and related phenotypes are intellectual disability and hyperpigmented nevi
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adult
<1/1000000
16
56
2

Medical Symptom

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No data available

Gene & Mutation

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Disease Model

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References Literature

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