Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0010871	HP:0010871	Sensory ataxia	0	DNAJC3 CL E G H	5611	445062				ORPHA	1	118	9439	601184
HP:0010871	HP:0010871	Sensory ataxia	0	EGR2 CL E G H	1959	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	373	3239	129010
HP:0010871	HP:0010871	Sensory ataxia	0	FLVCR1 CL E G H	28982	609033	Posterior column ataxia with retinitis pigmentosa	609033	C1836916	OMIM	1	529	24682	609144
HP:0010871	HP:0010871	Sensory ataxia	0	GPI CL E G H	2821	613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	613470	C3150730	OMIM	1	135	4458	172400
HP:0010871	HP:0010871	Sensory ataxia	0	MPZ CL E G H	4359	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	607	7225	159440
HP:0010871	HP:0010871	Sensory ataxia	0	PIEZO2 CL E G H	63895	617146	Arthrogryposis, distal, with impaired proprioception and touch	617146	C4310692	OMIM	1	978	26270	613629
HP:0010871	HP:0010871	Sensory ataxia	0	PMP22 CL E G H	5376	101081				ORPHA	1	492	9118	601097
HP:0010871	HP:0010871	Sensory ataxia	0	PMP22 CL E G H	5376	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	492	9118	601097
HP:0010871	HP:0010871	Sensory ataxia	0	PRX CL E G H	57716	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	1243	13797	605725
HP:0010871	HP:0010871	Sensory ataxia	0	RNF170 CL E G H	81790	608984	Ataxia, sensory, autosomal dominant	608984	C1837015	OMIM	1	79	25358	614649
HP:0010871	HP:0010871	Sensory ataxia	0	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	450	1160	606075
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010871	HP:0010871	Sensory ataxia	0	NAGLU CL E G H	4669	616491	Charcot-Marie-Tooth disease, axonal type 2V	616491	C4225306	OMIM	0	1088	7632	609701
HP:0010871	HP:0010871	Sensory ataxia	0	PRX CL E G H	57716	614895	Charcot-Marie-Tooth disease, demyelinating, type 4f	614895	C3540453	OMIM	0	1243	13797	605725

Genes (11) :DNAJC3 EGR2 FLVCR1 GPI MPZ NAGLU PIEZO2 PMP22 PRX RNF170 TWNK

Diseases (10) :445062 145900 609033 613470 616491 617146 101081 614895 608984 609286

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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