Cerebellar Ataxia and Hypogonadotropic Hypogonadism
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human Rnf216 gene have been identified in Gordon Holmes syndrome, which is defined by ataxia, dementia, and hypogonadotropism.
|
30649198 |
2019 |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
|
0.750 |
Biomarker
|
disease |
BEFREE |
The molecular pathology of GDHS is not understood, although RNF216 has been reported to modify several substrates with K48-linked ubiquitin chains, thereby targeting them for proteasomal degradation.
|
31087003 |
2019 |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
|
0.750 |
Biomarker
|
disease |
BEFREE |
RNF216) have recently been identified in patients suffering from Gordon Holmes syndrome (GHS), characterized by cognitive decline, dementia, and movement disorders.
|
27995769 |
2017 |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Mutations in RNF216 have recently been found in families with Gordon Holmes syndrome, a condition defined by hypogonadotropic hypogonadism and cerebellar ataxia.
|
25841028 |
2015 |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Recently, it was suggested that disordered ubiquitination underlies GHS though the discovery of exome mutations in the E3 ligase RNF216 and deubiquitinase OTUD4.
|
24113144 |
2014 |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
|
23656588 |
2013 |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
|
23656588 |
2013 |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
|
23656588 |
2013 |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
|
0.750 |
Biomarker
|
disease |
CTD_human |
|
|
|
Hypogonadotropic hypogonadism
|
0.110 |
Biomarker
|
disease |
BEFREE |
We thus have identified that RNF216 regulates the migration of GnRH neuron by suppressing Beclin1 mediated autophagy, and indicated a potential contribution of autophagy to the hypogonadotropic hypogonadism.
|
30733708 |
2019 |
Hypogonadotropic hypogonadism
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Ataxia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dysarthria
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Gynecomastia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Infertility
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Muscle hypotonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Nystagmus
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Optic Atrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Speech Disorders
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
Brachycephaly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|