Log In|Sign Up
ENGordon Holmes Syndrome (GDHS)
Alias:
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Cerebellar Ataxia-Hypogonadism Syndrome
Lhrh Deficiency and Ataxia
Luteinizing Hormone-Releasing Hormone Deficiency with Ataxia
Gdhs
Cahh
Deficiency of Luteinizing Hormone-Releasing Hormone with Ataxia
Gordon-Holmes Syndrome
Luteinizing Hormone-Releasing Hormone, Deficiency of, with Ataxia
Ataxia, Cerebellar, and Hypogonadotropic Hypogonadism
Favorite
Gordon Holmes Syndrome, also known as cerebellar ataxia and hypogonadotropic hypogonadism, is related to boucher-neuhauser syndrome and hypogonadotropic hypogonadism 7 with or without anosmia, and has symptoms including cerebellar ataxia An important gene associated with Gordon Holmes Syndrome is RNF216 (Ring Finger Protein 216), and among its related pathways/superpathways are Regulation of degradation of deltaF508 CFTR in CF and Maturation of protein E. Affiliated tissues include breast and brain, and related phenotypes are nystagmus and ataxia
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
