Term ID: 11730
Name: Abnormal central sensory function
Synonym: Abnormality of central sensory function
Definition: An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord.
Comments:
Reference: HP:0011730
Genes and Diseases: Child Nodes: ........Astereognosia (HP:0010527) ........Impaired two-point discrimination (HP:0011810) ........Impaired touch localization (HP:0011811) ........Agraphesthesia (HP:0011812) Sister Nodes: ..Abnormal brain positron emission tomography (HP:0012657) ..Abnormal central motor function (HP:0011442) ..Abnormal hypothalamus physiology (HP:0012285) ..Abnormal metabolic brain imaging by MRS (HP:0012705) ..Abnormal nervous system electrophysiology (HP:0001311) ..Abnormal synaptic transmission (HP:0012535) ..Abnormality of higher mental function (HP:0011446) ..Abnormality of intracranial pressure (HP:0012640) ..Abnormality of movement (HP:0100022) ..Abnormality of pineal physiology (HP:0012688) ..Abnormality of taste sensation (HP:0000223) ..Abnormality of the sense of smell (HP:0004408) ..Behavioral abnormality (HP:0000708) ..Bulbar palsy (HP:0001283) ..Bulbar signs (HP:0002483) ..Cataplexy (HP:0002524) ..Dysphagia (HP:0002015) ..Easy fatigability (HP:0003388) ..Encephalopathy (HP:0001298) ..Headache (HP:0002315) ..Hypocalcemic tetany (HP:0003472) ..Neurodevelopmental abnormality (HP:0012759) ..Pseudobulbar signs (HP:0002200) ..Seizure (HP:0001250) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0011730 HP:0011730 Abnormal central sensory function 0 ABCD1 CL E G H 215 61 ORPHA:139396 X-linked cerebral adrenoleukodystrophy 135 HP:0011730 HP:0011730 Abnormal central sensory function 0 AKT1 CL E G H 207 391 ORPHA:2495 Meningioma HP:0040283 - Occasional 54 HP:0011730 HP:0011730 Abnormal central sensory function 0 ATP6AP2 CL E G H 10159 18305 OMIM:300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH 36 HP:0011730 HP:0011730 Abnormal central sensory function 0 ATP6AP2 CL E G H 10159 18305 ORPHA:93952 X-linked intellectual disability, Hedera type 36 HP:0011730 HP:0011730 Abnormal central sensory function 0 BAP1 CL E G H 8314 950 ORPHA:2495 Meningioma HP:0040283 - Occasional 184 HP:0011730 HP:0011730 Abnormal central sensory function 0 NF2 CL E G H 4771 7773 ORPHA:2495 Meningioma HP:0040283 - Occasional 220 HP:0011730 HP:0011730 Abnormal central sensory function 0 PDGFB CL E G H 5155 8800 ORPHA:2495 Meningioma HP:0040283 - Occasional 9 HP:0011730 HP:0011730 Abnormal central sensory function 0 PIK3CA CL E G H 5290 8975 ORPHA:2495 Meningioma HP:0040283 - Occasional 162 HP:0011730 HP:0011730 Abnormal central sensory function 0 PRNP CL E G H 5621 9449 ORPHA:356 Gerstmann-Straussler-Scheinker syndrome HP:0040282 - Frequent 69 HP:0011730 HP:0011730 Abnormal central sensory function 0 SMARCB1 CL E G H 6598 11103 ORPHA:2495 Meningioma HP:0040283 - Occasional 87 HP:0011730 HP:0011730 Abnormal central sensory function 0 SMARCE1 CL E G H 6605 11109 ORPHA:2495 Meningioma HP:0040283 - Occasional 47 HP:0011730 HP:0011730 Abnormal central sensory function 0 SMO CL E G H 6608 11119 ORPHA:2495 Meningioma HP:0040283 - Occasional 22 HP:0011730 HP:0011730 Abnormal central sensory function 0 SUFU CL E G H 51684 16466 ORPHA:2495 Meningioma HP:0040283 - Occasional 124 HP:0011730 HP:0011730 Abnormal central sensory function 0 TERT CL E G H 7015 11730 ORPHA:2495 Meningioma HP:0040283 - Occasional 238 HP:0011730 HP:0011730 Abnormal central sensory function 0 TRAF7 CL E G H 84231 20456 ORPHA:2495 Meningioma HP:0040283 - Occasional HP:0011730 HP:0011810 Impaired two-point discrimination 1 CL E G H HP:0011730 HP:0011811 Impaired touch localization 1 CL E G H HP:0011730 HP:0010527 Astereognosia 1 ABCD1 CL E G H 215 61 ORPHA:139396 X-linked cerebral adrenoleukodystrophy HP:0040283 - Occasional 135 HP:0011730 HP:0010527 Astereognosia 1 ATP6AP2 CL E G H 10159 18305 OMIM:300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH 36 HP:0011730 HP:0011812 Agraphesthesia 1 ATP6AP2 CL E G H 10159 18305 OMIM:300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH 36 HP:0011730 HP:0011812 Agraphesthesia 1 ATP6AP2 CL E G H 10159 18305 ORPHA:93952 X-linked intellectual disability, Hedera type HP:0040283 - Occasional 36 HP:0011730 HP:0010527 Astereognosia 1 ATP6AP2 CL E G H 10159 18305 ORPHA:93952 X-linked intellectual disability, Hedera type HP:0040283 - Occasional 36
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
