Human Phenotype Ontology 
Grandparent Node:
expandAll (HP:0000001)help
Parent Node:
expandMode of inheritance (HP:0000005)help
..Starting node
..expandGenetic anticipation (HP:0003743)help
Term ID: 3743
Name: Genetic anticipation
Synonym: Autosomal dominant with genetic anticipation
Definition: A type of autosomal dominant inheritance involving a gene that exhibits anticipation, the increase in severity and/or an earlier age of onset in subsequent generations.
Comments:
Reference: HP:0003743
Genes and Diseases:
 
       Child Nodes:
........expandGenetic anticipation with paternal anticipation bias (HP:0003744) help

 Sister Nodes: 
..expandAutosomal dominant inheritance (HP:0000006) help
..expandAutosomal recessive inheritance (HP:0000007) help
..expandContiguous gene syndrome (HP:0001466) help
..expandMitochondrial inheritance (HP:0001427) help
..expandMultifactorial inheritance (HP:0001426) help
..expandobsolete Familial predisposition (HP:0001472) help
..expandobsolete Gonosomal inheritance (HP:0010985) help
..expandobsolete Heterogeneous (HP:0001425) help
..expandSomatic mutation (HP:0001428) help
..expandSporadic (HP:0003745) 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:0003743HP:0003743Genetic anticipation0ATN1 CL E G H18223033OMIM:125370Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia.16
HP:0003743HP:0003743Genetic anticipation0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0003743HP:0003743Genetic anticipation0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 10.9
HP:0003743HP:0003743Genetic anticipation0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0003743HP:0003743Genetic anticipation0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0003743HP:0003743Genetic anticipation0ATXN7 CL E G H631410560OMIM:164500Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II8
HP:0003743HP:0003743Genetic anticipation0CACNA1A CL E G H7731388OMIM:183086Spinocerebellar ataxia 6.449
HP:0003743HP:0003743Genetic anticipation0SPAST CL E G H668311233OMIM:182601Spastic paraplegia 4, autosomal dominant.208
HP:0003743HP:0003743Genetic anticipation0TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2.238
HP:0003743HP:0003744Genetic anticipation with paternal anticipation bias1ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0003743HP:0003744Genetic anticipation with paternal anticipation bias1ATXN7 CL E G H631410560OMIM:164500Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II.8


Genes (9) :ATN1 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 CACNA1A SPAST TERT

Diseases (9) :OMIM:125370 OMIM:164400 OMIM:603516 OMIM:183090 OMIM:109150 OMIM:164500 OMIM:183086 OMIM:182601 OMIM:613989
 

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