Human Phenotype
Ontology
Grandparent Node: Abnormal cortical gyration (HP:0002536) Parent Node: Lissencephaly (HP:0001339) ..Starting node Agyria (HP:0031882)
Term ID: 31882
Name: Agyria
Synonym: Agyria diffuse
Definition: A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.
Comments:
Reference: HP:0031882
Genes and Diseases: Child Nodes: Sister Nodes: ..4-layered lissencephaly (HP:0006818) ..Focal lissencephaly (HP:0007187) ..Microlissencephaly (HP:0045028) ..Pachygyria (HP:0001302) ..Type II lissencephaly (HP:0007260) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0031882 HP:0031882 Agyria 0 CDK5 CL E G H 1020 1774 OMIM:616342 Lissencephaly 7 with cerebellar hypoplasia . 3 HP:0031882 HP:0031882 Agyria 0 CEP85L CL E G H 387119 21638 OMIM:618873 LISSENCEPHALY 10; LIS10 1 HP:0031882 HP:0031882 Agyria 0 CRPPA CL E G H 729920 37276 OMIM:614643 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 . HP:0031882 HP:0031882 Agyria 0 DAG1 CL E G H 1605 2666 ORPHA:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0040282 - Frequent 108 HP:0031882 HP:0031882 Agyria 0 DAG1 CL E G H 1605 2666 OMIM:616538 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 . 108 HP:0031882 HP:0031882 Agyria 0 DCX CL E G H 1641 2714 ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation HP:0040282 - Frequent 145 HP:0031882 HP:0031882 Agyria 0 DCX CL E G H 1641 2714 OMIM:300067 Lissencephaly, X-linked, 1 . 145 HP:0031882 HP:0031882 Agyria 0 FKRP CL E G H 79147 17997 OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 157 HP:0031882 HP:0031882 Agyria 0 FKRP CL E G H 79147 17997 OMIM:613153 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 . 157 HP:0031882 HP:0031882 Agyria 0 FKTN CL E G H 2218 3622 OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 184 HP:0031882 HP:0031882 Agyria 0 FKTN CL E G H 2218 3622 OMIM:253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 . 184 HP:0031882 HP:0031882 Agyria 0 KIF2A CL E G H 3796 6318 OMIM:615411 Cortical dysplasia, complex, with other brain malformations 3 . 15 HP:0031882 HP:0031882 Agyria 0 LARGE1 CL E G H 9215 6511 OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 136 HP:0031882 HP:0031882 Agyria 0 PAFAH1B1 CL E G H 5048 8574 OMIM:607432 Lissencephaly 1 . 231 HP:0031882 HP:0031882 Agyria 0 PAFAH1B1 CL E G H 5048 8574 ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0040282 - Frequent 231 HP:0031882 HP:0031882 Agyria 0 POMK CL E G H 84197 26267 OMIM:615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 HP:0040284 - Very rare 18 HP:0031882 HP:0031882 Agyria 0 POMT1 CL E G H 10585 9202 OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 213 HP:0031882 HP:0031882 Agyria 0 POMT2 CL E G H 29954 19743 OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 221 HP:0031882 HP:0031882 Agyria 0 TMTC3 CL E G H 160418 26899 OMIM:617255 Lissencephaly 8 5 HP:0031882 HP:0031882 Agyria 0 TUBA1A CL E G H 7846 20766 OMIM:611603 Lissencephaly 3 . 106 HP:0031882 HP:0031882 Agyria 0 TUBA1A CL E G H 7846 20766 ORPHA:171680 Lissencephaly due to TUBA1A mutation 106 HP:0031882 HP:0031882 Agyria 0 TUBA1A CL E G H 7846 20766 ORPHA:467166 Tubulinopathy-associated dysgyria 106 HP:0031882 HP:0031882 Agyria 0 TUBB2B CL E G H 347733 30829 ORPHA:467166 Tubulinopathy-associated dysgyria 39 HP:0031882 HP:0031882 Agyria 0 TUBB3 CL E G H 10381 20772 ORPHA:467166 Tubulinopathy-associated dysgyria 64 HP:0031882 HP:0031882 Agyria 0 TUBG1 CL E G H 7283 12417 OMIM:615412 Cortical dysplasia, complex, with other brain malformations 4 . 14
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
