Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Peripheral neuropathy (HP:0009830)

Parent Node:
Somatic sensory dysfunction (HP:0003474)

..Starting node
..Impaired tactile sensation (HP:0010830)

Term ID:

10830

Name:

Impaired tactile sensation

Synonym:

Abnormal thigmesthesia; Impaired touch sensation; Loss of tactile sensation

Definition:

A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.

Comments:

Reference:

HP:0010830

Genes and Diseases:

Child Nodes:

........

Impaired distal tactile sensation (HP:0006937)

Sister Nodes:

Abnormality of pain sensation (HP:0010832)

Dissociated sensory loss (HP:0010835)

Distal sensory impairment (HP:0002936)

Impaired proprioception (HP:0010831)

Impaired temperature sensation (HP:0010829)

Impaired vibratory sensation (HP:0002495)

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:0010830	HP:0010830	Impaired tactile sensation	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0010830	HP:0010830	Impaired tactile sensation	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		71
HP:0010830	HP:0010830	Impaired tactile sensation	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		5
HP:0010830	HP:0010830	Impaired tactile sensation	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0010830	HP:0010830	Impaired tactile sensation	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0010830	HP:0010830	Impaired tactile sensation	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0010830	HP:0010830	Impaired tactile sensation	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040282 - Frequent	6
HP:0010830	HP:0010830	Impaired tactile sensation	0	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant		2
HP:0010830	HP:0010830	Impaired tactile sensation	0	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28	HP:0040282 - Frequent	35
HP:0010830	HP:0010830	Impaired tactile sensation	0	DHH CL E G H	50846	2865	OMIM:607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY		21
HP:0010830	HP:0010830	Impaired tactile sensation	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040283 - Occasional	160
HP:0010830	HP:0010830	Impaired tactile sensation	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040283 - Occasional	160
HP:0010830	HP:0010830	Impaired tactile sensation	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0010830	HP:0010830	Impaired tactile sensation	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0010830	HP:0010830	Impaired tactile sensation	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0010830	HP:0010830	Impaired tactile sensation	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0010830	HP:0010830	Impaired tactile sensation	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040282 - Frequent	11
HP:0010830	HP:0010830	Impaired tactile sensation	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy		3
HP:0010830	HP:0010830	Impaired tactile sensation	0	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma		100
HP:0010830	HP:0010830	Impaired tactile sensation	0	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma		27
HP:0010830	HP:0010830	Impaired tactile sensation	0	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma		66
HP:0010830	HP:0010830	Impaired tactile sensation	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent	8
HP:0010830	HP:0010830	Impaired tactile sensation	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0010830	HP:0010830	Impaired tactile sensation	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0010830	HP:0010830	Impaired tactile sensation	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0010830	HP:0010830	Impaired tactile sensation	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0010830	HP:0010830	Impaired tactile sensation	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0010830	HP:0010830	Impaired tactile sensation	0	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4	HP:0040281 - Very frequent	4
HP:0010830	HP:0010830	Impaired tactile sensation	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0010830	HP:0010830	Impaired tactile sensation	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25		60
HP:0010830	HP:0010830	Impaired tactile sensation	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0010830	HP:0010830	Impaired tactile sensation	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0010830	HP:0010830	Impaired tactile sensation	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0010830	HP:0010830	Impaired tactile sensation	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040283 - Occasional	309
HP:0010830	HP:0010830	Impaired tactile sensation	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0010830	HP:0010830	Impaired tactile sensation	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		54
HP:0010830	HP:0010830	Impaired tactile sensation	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0010830	HP:0010830	Impaired tactile sensation	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		149
HP:0010830	HP:0010830	Impaired tactile sensation	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0010830	HP:0010830	Impaired tactile sensation	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040282 - Frequent	63
HP:0010830	HP:0010830	Impaired tactile sensation	0	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	71
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	5
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant	.	2
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	DHH CL E G H	50846	2865	OMIM:607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY		21
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040283 - Occasional
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040282 - Frequent	3
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent	60
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	54
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	149
HP:0010830	HP:0006937	Impaired distal tactile sensation	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113

Genes (35) :ADA2 ATL1 ATL3 ATP13A2 ATXN1 BSCL2 CLTCL1 DCAF8 DDHD1 DHH GALC GDAP1 HARS1 HK1 KLHL9 KRT1 KRT16 KRT9 MORC2 MPV17 MTRFR NARS1 PLEKHG4 PMP22 PNPT1 POLG RAB7A RNF170 SACS SETX SPTLC1 SPTLC2 TWNK VCP VWA1

Diseases (35) :OMIM:182410 ORPHA:36386 OMIM:617225 OMIM:164400 OMIM:270685 ORPHA:453510 OMIM:610100 ORPHA:101008 OMIM:607080 ORPHA:206448 ORPHA:206443 ORPHA:101097 ORPHA:99948 OMIM:607706 ORPHA:488333 ORPHA:99953 ORPHA:399081 ORPHA:2199 ORPHA:466768 OMIM:616688 OMIM:618400 OMIM:615035 OMIM:619091 OMIM:619092 ORPHA:98765 ORPHA:90658 ORPHA:101111 OMIM:607459 OMIM:600882 OMIM:619686 ORPHA:98 OMIM:606002 OMIM:162400 ORPHA:435387 OMIM:619216

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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