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 vibratory sensation (HP:0002495)

..Starting node
..Impaired vibration sensation in the lower limbs (HP:0002166)

Term ID:

2166

Name:

Impaired vibration sensation in the lower limbs

Synonym:

Decreased lower limb vibratory sense; Decreased vibratory sense in lower limbs; Decreased vibratory sense in the lower extremities; Decreased vibratory sense in the lower limbs; Diminished vibratory sensation in the legs; Distal sensory loss, especially vibratory sense; Distal vibratory impairment of the lower limbs; Impaired vibration sensation in the lower limbs

Definition:

A decrease in the ability to perceive vibration in the legs.

Comments:

Reference:

HP:0002166

Genes and Diseases:

Child Nodes:

........

Impaired vibration sensation at ankles (HP:0006938)

Sister Nodes:

Abolished vibration sense (HP:0006944)

Impaired distal vibration sensation (HP:0006886)

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:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	89
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive		21
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66	HP:0040282 - Frequent	1
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040281 - Very frequent
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26		25
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.	105
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42		32
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040282 - Frequent	1
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040283 - Occasional	60
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional	18
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	7
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040281 - Very frequent	111
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040283 - Occasional	30
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	HP:0040283 - Occasional	30
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	86
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040281 - Very frequent
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040282 - Frequent	46
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.	46
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	1
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22		35
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent	1
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040282 - Frequent	3
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040282 - Frequent
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	27
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6	HP:0040282 - Frequent	4
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23	.	52
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent	98
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040283 - Occasional	138
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14		83
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72		3
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent	25
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.	4
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	HP:0040282 - Frequent	40
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040282 - Frequent	48
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4		208
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent	171
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1	HP:0040282 - Frequent	52
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040283 - Occasional	2
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040282 - Frequent	63
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040282 - Frequent	83
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60	HP:0040282 - Frequent	1
HP:0002166	HP:0002166	Impaired vibration sensation in the lower limbs	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8
HP:0002166	HP:0006938	Impaired vibration sensation at ankles	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0002166	HP:0006938	Impaired vibration sensation at ankles	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional	89
HP:0002166	HP:0006938	Impaired vibration sensation at ankles	1	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive		21
HP:0002166	HP:0006938	Impaired vibration sensation at ankles	1	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040283 - Occasional	25
HP:0002166	HP:0006938	Impaired vibration sensation at ankles	1	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0002166	HP:0006938	Impaired vibration sensation at ankles	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040282 - Frequent	32
HP:0002166	HP:0006938	Impaired vibration sensation at ankles	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional	30
HP:0002166	HP:0006938	Impaired vibration sensation at ankles	1	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040282 - Frequent	35
HP:0002166	HP:0006938	Impaired vibration sensation at ankles	1	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.	83
HP:0002166	HP:0006938	Impaired vibration sensation at ankles	1	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72	HP:0040283 - Occasional	3
HP:0002166	HP:0006938	Impaired vibration sensation at ankles	1	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040282 - Frequent	208
HP:0002166	HP:0006938	Impaired vibration sensation at ankles	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0002166	HP:0006938	Impaired vibration sensation at ankles	1	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8

Genes (53) :ABCD1 ALDH18A1 AMPD2 ARSI ATL1 ATP6 B4GALNT1 BSCL2 CACNA1G CPT1C CYP7B1 DARS2 ERLIN2 FAR1 FLRT1 FLVCR1 GBA2 GCH1 HARS1 HINT1 HSPD1 IMPDH2 KCND3 KIF5A KLC2 KLHL9 KPNA3 NIPA1 NR4A2 PDK3 PDYN PEX6 PMP22 POLR3A PRKCG REEP2 RTN2 SACS SAMD9L SCO2 SLC33A1 SPAST SPG11 SPG7 SPTLC2 TDP1 UBAP1 UCHL1 VAMP1 VCP WASHC5 WDR48 XK

Diseases (58) :OMIM:300100 ORPHA:447753 ORPHA:447760 OMIM:615686 ORPHA:401815 OMIM:182600 ORPHA:320360 ORPHA:101006 OMIM:270685 OMIM:616795 ORPHA:458803 ORPHA:444099 OMIM:270800 ORPHA:137898 ORPHA:209951 ORPHA:320406 OMIM:609033 ORPHA:88628 ORPHA:352641 ORPHA:320391 OMIM:614409 ORPHA:98808 ORPHA:488333 ORPHA:324442 ORPHA:100994 OMIM:605280 ORPHA:98772 OMIM:604187 ORPHA:399081 ORPHA:171612 OMIM:600363 ORPHA:352675 OMIM:610245 ORPHA:95433 ORPHA:90658 ORPHA:447896 OMIM:605361 ORPHA:401849 ORPHA:100993 OMIM:604805 OMIM:270550 OMIM:159550 ORPHA:521411 ORPHA:171863 ORPHA:100985 OMIM:182601 OMIM:604360 OMIM:607259 ORPHA:99013 OMIM:613640 ORPHA:94124 OMIM:615491 ORPHA:251282 ORPHA:435387 ORPHA:100989 OMIM:603563 ORPHA:401800 OMIM:300842

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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