NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
|
0.610 |
GeneticVariation
|
disease |
BEFREE |
This report is the second in the literature that delineates the pathogenic effects of biallelic AGTPBP1 variants presenting the recently described CONDCA disease.
|
31102495 |
2019 |
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
|
30420557 |
2018 |
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
|
30420557 |
2018 |
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
|
30420557 |
2018 |
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Nerve Degeneration
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
The Purkinje cell degeneration (pcd) phenotype is characterized by adult onset neurodegeneration resulting from mutations in Nna1, a gene encoding an intracellular protein with a putative metallocarboxypeptidase domain.
|
16952463 |
2006 |
Colorectal Carcinoma
|
0.300 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
Retinitis Pigmentosa
|
0.200 |
Biomarker
|
disease |
MGD |
|
|
|
RETINITIS PIGMENTOSA 1
|
0.200 |
Biomarker
|
disease |
MGD |
|
|
|
Cerebellar atrophy
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
Likewise, a novel phenotype, childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) has been described recently in individuals with lower motor neuron disorder and cerebellar atrophy due to biallelic loss-of-function variants in AGTPBP1 that encodes cytosolic carboxypeptidase 1 (CCP1).
|
31102495 |
2019 |
Cerebellar atrophy
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
Monogenic biallelic damaging variants in the Agtpbp1 gene cause infantile-onset neurodegeneration and cerebellar atrophy, linking loss of functional CCP1 with human neurodegeneration.
|
30905767 |
2019 |
Cerebellar atrophy
|
0.120 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Cerebellar atrophy
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
Deglutition Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
|
|
|
Failure to Thrive
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Nystagmus
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Strabismus
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Muscle Weakness
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Feeding difficulties
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Fasciculation, Tongue
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Byzanthine arch palate
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Laryngomalacia
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Quadriparesis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Polyneuropathy, Motor
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Polyneuropathy, Motor
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|