Term ID: 30301
Name: Abnormality of the anterior commissure
Synonym:
Definition: An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts.
Comments:
Reference: HP:0030301
Genes and Diseases: Child Nodes: ........Agenesis of the anterior commissure (HP:0030302) ........Hypoplastic anterior commissure (HP:0030303) Sister Nodes: ..Abnormal corpus callosum morphology (HP:0001273) ..Abnormal periventricular white matter morphology (HP:0002518) ..Abnormality of the bed nucleus of stria terminalis (HP:0030798) ..Abnormality of the internal capsule (HP:0012502) ..Aplasia/Hypoplasia of the cerebral white matter (HP:0012429) ..Cerebral white matter atrophy (HP:0012762) ..Diffuse swelling of cerebral white matter (HP:0007341) ..Diffuse white matter abnormalities (HP:0007204) ..Focal white matter lesions (HP:0007042) ..Hyperintensity of cerebral white matter on MRI (HP:0030890) ..Hypointensity of cerebral white matter on MRI (HP:0007103) ..Multifocal cerebral white matter abnormalities (HP:0007052) ..Subcortical white matter calcifications (HP:0007346) ..White mater abnormalities in the posterior periventricular region (HP:0006812) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0030301 HP:0030301 Abnormality of the anterior commissure 0 CEP85L CL E G H 387119 21638 ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome 1 HP:0030301 HP:0030301 Abnormality of the anterior commissure 0 DCC CL E G H 1630 2701 OMIM:617542 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2 36 HP:0030301 HP:0030301 Abnormality of the anterior commissure 0 MACF1 CL E G H 23499 13664 OMIM:618325 Lissencephaly 9 with complex brainstem malformation 2 HP:0030301 HP:0030301 Abnormality of the anterior commissure 0 MACF1 CL E G H 23499 13664 ORPHA:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome 2 HP:0030301 HP:0030301 Abnormality of the anterior commissure 0 RERE CL E G H 473 9965 OMIM:616975 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 16 HP:0030301 HP:0030301 Abnormality of the anterior commissure 0 TUBB3 CL E G H 10381 20772 ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation 64 HP:0030301 HP:0030301 Abnormality of the anterior commissure 0 TUBB3 CL E G H 10381 20772 OMIM:600638 Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement 64 HP:0030301 HP:0030301 Abnormality of the anterior commissure 0 ZEB2 CL E G H 9839 14881 ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation 362 HP:0030301 HP:0030303 Hypoplastic anterior commissure 1 MACF1 CL E G H 23499 13664 OMIM:618325 Lissencephaly 9 with complex brainstem malformation 2 HP:0030301 HP:0030303 Hypoplastic anterior commissure 1 RERE CL E G H 473 9965 OMIM:616975 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 16 HP:0030301 HP:0030302 Agenesis of the anterior commissure 1 TUBB3 CL E G H 10381 20772 ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0040283 - Occasional 64 HP:0030301 HP:0030303 Hypoplastic anterior commissure 1 TUBB3 CL E G H 10381 20772 OMIM:600638 Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement 64 HP:0030301 HP:0030303 Hypoplastic anterior commissure 1 ZEB2 CL E G H 9839 14881 ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0040282 - Frequent 362
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
