Pallister-Hall Syndrome (PHS)

Alias:
Hypothalamic Hamartoblastoma Syndrome
Phs
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly
Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus and Postaxial Polydactyly
Hall-Pallister Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pallister-Hall Syndrome, also known as hypothalamic hamartoblastoma syndrome, is related to culler-jones syndrome and polydactyly, postaxial, type a1. An important gene associated with Pallister-Hall Syndrome is GLI3 (GLI Family Zinc Finger 3), and among its related pathways/superpathways are Signal Transduction and Activation of cAMP-Dependent PKA. Affiliated tissues include pituitary and hypothalamus, and related phenotypes are hypothalamic hamartoma and macrocephaly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
22
260
51

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Disease Model

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MGI
Related Gene
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References Literature

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