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:
Distal sensory impairment (HP:0002936)

Parent Node:
Impaired tactile sensation (HP:0010830)

..Starting node
..Impaired distal tactile sensation (HP:0006937)

Term ID:

6937

Name:

Impaired distal tactile sensation

Synonym:

Decreased distal touch sense; Decreased touch sensation in extremities

Definition:

A reduced sense of touch (tactile sensation) on the skin of the distal limbs. 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:0006937

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0006937	HP:0006937	Impaired distal tactile sensation	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	71
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	5
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant	.	2
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	DHH CL E G H	50846	2865	OMIM:607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY		21
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040283 - Occasional
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040282 - Frequent	3
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent	60
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	54
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	149
HP:0006937	HP:0006937	Impaired distal tactile sensation	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113

Genes (20) :ADA2 ATL1 ATL3 ATXN1 BSCL2 DCAF8 DHH GDAP1 HARS1 KLHL9 MORC2 MPV17 MTRFR PNPT1 POLG RAB7A SETX SPTLC1 SPTLC2 TWNK

Diseases (18) :OMIM:182410 ORPHA:36386 OMIM:164400 OMIM:270685 OMIM:610100 OMIM:607080 ORPHA:99948 OMIM:607706 ORPHA:488333 ORPHA:399081 OMIM:616688 OMIM:618400 OMIM:615035 ORPHA:101111 OMIM:607459 OMIM:600882 OMIM:606002 OMIM:162400

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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