Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive (GHISID1)

Alias:
Growth Hormone Insensitivity with Immune Dysregulation 1, Autosomal Recessive
Growth Hormone Insensitivity Due to Postreceptor Defect
Ghisid1
Growth Hormone Insensitivity with Immunodeficiency
Laron Syndrome Due to a Post-Receptor Defect
Laron Syndrome Due to Postreceptor Defect
Laron Syndrome Type Ii
Laron Type Dwarfism Ii
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive, also known as growth hormone insensitivity with immune dysregulation 1, autosomal recessive, is related to laron syndrome and growth hormone insensitivity syndrome with immune dysregulation 1. An important gene associated with Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive is STAT5B (Signal Transducer And Activator Of Transcription 5B). Affiliated tissues include bone and lung, and related phenotypes are failure to thrive and prominent forehead
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
9
14

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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IF
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