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:
Abnormal nervous system electrophysiology (HP:0001311)

Parent Node:
Abnormality of central nervous system electrophysiology (HP:0030178)

Parent Node:
Abnormality of peripheral nervous system electrophysiology (HP:0030177)

..Starting node
..Abnormality of somatosensory evoked potentials (HP:0007377)

Term ID:

7377

Name:

Abnormality of somatosensory evoked potentials

Synonym:

Abnormality of SSEPs

Definition:

An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex.

Comments:

Reference:

HP:0007377

Genes and Diseases:

Child Nodes:

........

Giant somatosensory evoked potentials (HP:0001312)

........

Enhancement of the C-reflex (HP:0001340)

........

Prolonged somatosensory evoked potentials (HP:0007104)

........

Abnormality of peripheral somatosensory evoked potentials (HP:0100290)

........

Abnormality of central somatosensory evoked potentials (HP:0100291)

Sister Nodes:

Abnormal auditory evoked potentials (HP:0006958)

Abnormality of peripheral nerve conduction (HP:0003134)

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:0007377	HP:0007377	Abnormality of somatosensory evoked potentials	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0007377	HP:0007377	Abnormality of somatosensory evoked potentials	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent	19
HP:0007377	HP:0007377	Abnormality of somatosensory evoked potentials	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0007377	HP:0007377	Abnormality of somatosensory evoked potentials	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0007377	HP:0007377	Abnormality of somatosensory evoked potentials	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease		83
HP:0007377	HP:0007377	Abnormality of somatosensory evoked potentials	0	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44	HP:0040281 - Very frequent	37
HP:0007377	HP:0007377	Abnormality of somatosensory evoked potentials	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040282 - Frequent	44
HP:0007377	HP:0007377	Abnormality of somatosensory evoked potentials	0	MARCHF6 CL E G H	10299	30550	OMIM:613608	Epilepsy, familial adult myoclonic, 3
HP:0007377	HP:0007377	Abnormality of somatosensory evoked potentials	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0007377	HP:0007377	Abnormality of somatosensory evoked potentials	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease		77
HP:0007377	HP:0007377	Abnormality of somatosensory evoked potentials	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040282 - Frequent	60
HP:0007377	HP:0007377	Abnormality of somatosensory evoked potentials	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent	49
HP:0007377	HP:0007377	Abnormality of somatosensory evoked potentials	0	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1		2
HP:0007377	HP:0007377	Abnormality of somatosensory evoked potentials	0	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0007377	HP:0007377	Abnormality of somatosensory evoked potentials	0	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0007377	HP:0007377	Abnormality of somatosensory evoked potentials	0	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp		271
HP:0007377	HP:0007377	Abnormality of somatosensory evoked potentials	0	TBC1D24 CL E G H	57465	29203	ORPHA:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome		271
HP:0007377	HP:0007377	Abnormality of somatosensory evoked potentials	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent	15
HP:0007377	HP:0007377	Abnormality of somatosensory evoked potentials	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0007377	HP:0007377	Abnormality of somatosensory evoked potentials	0	YEATS2 CL E G H	55689	25489	OMIM:615127	Epilepsy, familial adult myoclonic, 4		1
HP:0007377	HP:0100291	Abnormality of central somatosensory evoked potentials	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent	135
HP:0007377	HP:0100291	Abnormality of central somatosensory evoked potentials	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0007377	HP:0001312	Giant somatosensory evoked potentials	1	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent	83
HP:0007377	HP:0001312	Giant somatosensory evoked potentials	1	MARCHF6 CL E G H	10299	30550	OMIM:613608	Epilepsy, familial adult myoclonic, 3	.
HP:0007377	HP:0001340	Enhancement of the C-reflex	1	MARCHF6 CL E G H	10299	30550	OMIM:613608	Epilepsy, familial adult myoclonic, 3	.
HP:0007377	HP:0100290	Abnormality of peripheral somatosensory evoked potentials	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040281 - Very frequent	8
HP:0007377	HP:0001312	Giant somatosensory evoked potentials	1	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent	77
HP:0007377	HP:0001312	Giant somatosensory evoked potentials	1	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1		2
HP:0007377	HP:0001340	Enhancement of the C-reflex	1	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1		2
HP:0007377	HP:0001312	Giant somatosensory evoked potentials	1	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0007377	HP:0001312	Giant somatosensory evoked potentials	1	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2	.
HP:0007377	HP:0001340	Enhancement of the C-reflex	1	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2	.
HP:0007377	HP:0007104	Prolonged somatosensory evoked potentials	1	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp	.	271
HP:0007377	HP:0007104	Prolonged somatosensory evoked potentials	1	TBC1D24 CL E G H	57465	29203	ORPHA:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	HP:0040282 - Frequent	271
HP:0007377	HP:0100291	Abnormality of central somatosensory evoked potentials	1	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0007377	HP:0001340	Enhancement of the C-reflex	1	YEATS2 CL E G H	55689	25489	OMIM:615127	Epilepsy, familial adult myoclonic, 4	.	1

Genes (18) :ABCD1 ATXN1 CYP27A1 EPM2A GJC2 LMNB1 MARCHF6 MORC2 NHLRC1 PLP1 PRPS1 SAMD12 SEMA6B STARD7 TBC1D24 TIMM8A TTPA YEATS2

Diseases (19) :ORPHA:139399 ORPHA:98755 OMIM:213700 ORPHA:909 ORPHA:501 ORPHA:320401 ORPHA:99027 OMIM:613608 ORPHA:466768 ORPHA:280219 ORPHA:1187 OMIM:601068 OMIM:618876 OMIM:607876 OMIM:608105 ORPHA:163727 ORPHA:52368 OMIM:277460 OMIM:615127

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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