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:
Sensory neuropathy (HP:0000763)

Parent Node:
Paresthesia (HP:0003401)

..Starting node
..Dysesthesia (HP:0012534)

Term ID:

12534

Name:

Dysesthesia

Synonym:

Dysaesthesia; Dysesthesias; Hyperalgesia; Hyperpathia

Definition:

Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds.

Comments:

Reference:

HP:0012534

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acroparesthesia (HP:0031006)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012534	HP:0012534	Dysesthesia	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040283 - Occasional	135
HP:0012534	HP:0012534	Dysesthesia	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional	74
HP:0012534	HP:0012534	Dysesthesia	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0012534	HP:0012534	Dysesthesia	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0012534	HP:0012534	Dysesthesia	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0012534	HP:0012534	Dysesthesia	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0012534	HP:0012534	Dysesthesia	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040282 - Frequent	30
HP:0012534	HP:0012534	Dysesthesia	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional	139
HP:0012534	HP:0012534	Dysesthesia	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional	434
HP:0012534	HP:0012534	Dysesthesia	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040281 - Very frequent	217
HP:0012534	HP:0012534	Dysesthesia	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0012534	HP:0012534	Dysesthesia	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040282 - Frequent	79
HP:0012534	HP:0012534	Dysesthesia	0	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome	HP:0040281 - Very frequent	69
HP:0012534	HP:0012534	Dysesthesia	0	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma	HP:0040283 - Occasional	1
HP:0012534	HP:0012534	Dysesthesia	0	SCN10A CL E G H	6336	10582	OMIM:615551	EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2		146
HP:0012534	HP:0012534	Dysesthesia	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0012534	HP:0012534	Dysesthesia	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC	.	149
HP:0012534	HP:0012534	Dysesthesia	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional	50
HP:0012534	HP:0012534	Dysesthesia	0	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma	HP:0040283 - Occasional

Genes (18) :ABCD1 ALDH4A1 CHST14 DKK1 DSE FMR1 GABRG2 GRIN2A NLRP3 PEX16 PMP22 PRNP RELA SCN10A SDHA SPTLC2 SRPX2 ZFTA

Diseases (15) :ORPHA:139399 ORPHA:79101 OMIM:601776 ORPHA:2953 ORPHA:268882 ORPHA:93256 ORPHA:1945 ORPHA:47045 OMIM:614877 ORPHA:98916 ORPHA:356 ORPHA:251636 OMIM:615551 OMIM:619259 OMIM:613640

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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