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 |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
|
23656588 |
2013 |
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Idiopathic hypogonadotropic hypogonadism
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Cerebellar Ataxia
|
0.010 |
GeneticVariation
|
phenotype |
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 |
Male infertility
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Here, we show that targeted deletion of Rnf216 in mice results in disruption in spermatogenesis and male infertility.
|
30649198 |
2019 |
McCune-Albright Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A clinical diagnosis of MAS can be made when a patient is found to have at least two features of the classical triad (3).
|
17982384 |
2007 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
[1] classifying a patient with non-specific white matter abnormalities, cerebellar atrophy, hypogonadotropic hypogonadism and absent lower median incisors as 4H syndrome.He had mutations in RNF216.
|
26365775 |
2015 |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
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 |
Biomarker
|
disease |
CTD_human |
|
|
|
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 |
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 |
|
|
|
Muscle hypotonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Nystagmus
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|