Human Phenotype Ontology 
Grandparent Node:
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Abnormal cerebellum morphology (HP:0001317)help
Parent Node:
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Cerebellar atrophy (HP:0001272)help
..Starting node
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Diffuse cerebellar atrophy (HP:0100275)help
Term ID: 100275
Name: Diffuse cerebellar atrophy
Synonym:
Definition: Diffuse unlocalised atrophy affecting the cerebellum.
Comments:
Reference: HP:0100275
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCerebellar cortical atrophy (HP:0008278) help
..expandCerebellar granular layer atrophy (HP:0012080) help
..expandCerebellar Purkinje layer atrophy (HP:0012082) help
..expandPontocerebellar atrophy (HP:0006879) help
..expandSpinocerebellar atrophy (HP:0007263) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100275HP:0100275Diffuse cerebellar atrophy0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0100275HP:0100275Diffuse cerebellar atrophy0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0100275HP:0100275Diffuse cerebellar atrophy0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040283 - Occasional35
HP:0100275HP:0100275Diffuse cerebellar atrophy0DAB1 CL E G H16002661ORPHA:363710Spinocerebellar ataxia type 37HP:0040282 - Frequent4
HP:0100275HP:0100275Diffuse cerebellar atrophy0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeHP:0040281 - Very frequent5
HP:0100275HP:0100275Diffuse cerebellar atrophy0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0100275HP:0100275Diffuse cerebellar atrophy0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0100275HP:0100275Diffuse cerebellar atrophy0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040282 - Frequent30
HP:0100275HP:0100275Diffuse cerebellar atrophy0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0100275HP:0100275Diffuse cerebellar atrophy0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0100275HP:0100275Diffuse cerebellar atrophy0ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0100275HP:0100275Diffuse cerebellar atrophy0KIF1A CL E G H547888ORPHA:101010Autosomal spastic paraplegia type 30HP:0040283 - Occasional276
HP:0100275HP:0100275Diffuse cerebellar atrophy0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0100275HP:0100275Diffuse cerebellar atrophy0PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiencyHP:0040282 - Frequent75
HP:0100275HP:0100275Diffuse cerebellar atrophy0PNPT1 CL E G H8717823166ORPHA:101111Spinocerebellar ataxia type 25HP:0040282 - Frequent60
HP:0100275HP:0100275Diffuse cerebellar atrophy0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0100275HP:0100275Diffuse cerebellar atrophy0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0100275HP:0100275Diffuse cerebellar atrophy0TBC1D24 CL E G H5746529203ORPHA:352596Progressive myoclonic epilepsy with dystoniaHP:0040283 - Occasional271
HP:0100275HP:0100275Diffuse cerebellar atrophy0TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 29HP:0040281 - Very frequent1


Genes (19) :BTD CARS1 CARS2 DAB1 EMC1 ERCC2 ERCC3 FMR1 GTF2E2 GTF2H5 ITPR1 KIF1A MPLKIP PEX10 PNPT1 RNF113A TARS1 TBC1D24 TXN2

Diseases (12) :OMIM:253260 ORPHA:33364 ORPHA:477774 ORPHA:363710 ORPHA:480898 ORPHA:93256 OMIM:117360 ORPHA:101010 ORPHA:247815 ORPHA:101111 ORPHA:352596 ORPHA:478029
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.