Human Phenotype
Ontology
Grandparent Node: Somatic sensory dysfunction (HP:0003474) Parent Node: Impaired proprioception (HP:0010831) ..Starting node Sensory ataxia (HP:0010871)
Term ID: 10871
Name: Sensory ataxia
Synonym: Afferent ataxia; Ataxia, sensory; Spinal ataxia
Definition: Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.
Comments:
Reference: HP:0010871
Genes and Diseases: Child Nodes: Sister Nodes: ..Impaired distal proprioception (HP:0006858) ..Positive Romberg sign (HP:0002403) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0010871 HP:0010871 Sensory ataxia 0 AARS1 CL E G H 16 20 OMIM:619661 LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2 HP:0010871 HP:0010871 Sensory ataxia 0 DNAJC3 CL E G H 5611 9439 OMIM:616192 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 3 HP:0010871 HP:0010871 Sensory ataxia 0 DNAJC3 CL E G H 5611 9439 ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0040282 - Frequent 3 HP:0010871 HP:0010871 Sensory ataxia 0 EGR2 CL E G H 1959 3239 OMIM:145900 Hypertrophic neuropathy of dejerine-sottas . 58 HP:0010871 HP:0010871 Sensory ataxia 0 FLVCR1 CL E G H 28982 24682 OMIM:609033 Ataxia, posterior column, with retinitis pigmentosa 111 HP:0010871 HP:0010871 Sensory ataxia 0 GPI CL E G H 2821 4458 OMIM:613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency . 12 HP:0010871 HP:0010871 Sensory ataxia 0 MPZ CL E G H 4359 7225 OMIM:145900 Hypertrophic neuropathy of dejerine-sottas . 134 HP:0010871 HP:0010871 Sensory ataxia 0 MPZ CL E G H 4359 7225 OMIM:618184 Neuropathy, congenital hypomyelinating, 2 134 HP:0010871 HP:0010871 Sensory ataxia 0 NAGLU CL E G H 4669 7632 OMIM:616491 Charcot-Marie-Tooth disease, axonal, type 2V HP:0040283 - Occasional 72 HP:0010871 HP:0010871 Sensory ataxia 0 PIEZO2 CL E G H 63895 26270 OMIM:617146 Arthrogryposis, distal, with impaired proprioception and touch . HP:0003577 - Congenital onset 77 HP:0010871 HP:0010871 Sensory ataxia 0 PMP22 CL E G H 5376 9118 ORPHA:101081 Charcot-Marie-Tooth disease type 1A HP:0040282 - Frequent 79 HP:0010871 HP:0010871 Sensory ataxia 0 PMP22 CL E G H 5376 9118 OMIM:145900 Hypertrophic neuropathy of dejerine-sottas . 79 HP:0010871 HP:0010871 Sensory ataxia 0 POLG CL E G H 5428 9179 OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 464 HP:0010871 HP:0010871 Sensory ataxia 0 PRX CL E G H 57716 13797 OMIM:614895 Charcot-Marie-Tooth disease, demyelinating, type 4F HP:0040283 - Occasional 170 HP:0010871 HP:0010871 Sensory ataxia 0 PRX CL E G H 57716 13797 OMIM:145900 Hypertrophic neuropathy of dejerine-sottas . 170 HP:0010871 HP:0010871 Sensory ataxia 0 RNF170 CL E G H 81790 25358 OMIM:608984 Ataxia, sensory, autosomal dominant . 3 HP:0010871 HP:0010871 Sensory ataxia 0 SH3TC2 CL E G H 79628 29427 ORPHA:99949 Charcot-Marie-Tooth disease type 4C HP:0040283 - Occasional 493 HP:0010871 HP:0010871 Sensory ataxia 0 TWNK CL E G H 56652 1160 OMIM:609286 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 . 113 HP:0010871 HP:0010871 Sensory ataxia 0 TWNK CL E G H 56652 1160 OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 113
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
