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:
Abnormality of movement (HP:0100022)

Parent Node:
Abnormal tongue physiology (HP:0030810)

Parent Node:
Fasciculations (HP:0002380)

Parent Node:
Muscle fibrillation (HP:0010546)

..Starting node
..Tongue fasciculations (HP:0001308)

Term ID:

1308

Name:

Tongue fasciculations

Synonym:

Lingual fasciculations; Lingual fibrillations; Lingual twitching; Tongue fasciculation; Tongue fasciculations/fibrillations; Tongue twitching; Twitching of the tongue

Definition:

Fasciculations or fibrillation affecting the tongue muscle.

Comments:

Reference:

HP:0001308

Genes and Diseases:

Child Nodes:

Sister Nodes:

Facial-lingual fasciculations (HP:0007089)

Limb fasciculations (HP:0007289)

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:0001308	HP:0001308	Tongue fasciculations	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	.
HP:0001308	HP:0001308	Tongue fasciculations	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	HP:0040284 - Very rare	1
HP:0001308	HP:0001308	Tongue fasciculations	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0001308	HP:0001308	Tongue fasciculations	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0001308	HP:0001308	Tongue fasciculations	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040282 - Frequent	60
HP:0001308	HP:0001308	Tongue fasciculations	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.	78
HP:0001308	HP:0001308	Tongue fasciculations	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001308	HP:0001308	Tongue fasciculations	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	239
HP:0001308	HP:0001308	Tongue fasciculations	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	449
HP:0001308	HP:0001308	Tongue fasciculations	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040283 - Occasional	11
HP:0001308	HP:0001308	Tongue fasciculations	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0001308	HP:0001308	Tongue fasciculations	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0001308	HP:0001308	Tongue fasciculations	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.	38
HP:0001308	HP:0001308	Tongue fasciculations	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0001308	HP:0001308	Tongue fasciculations	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0001308	HP:0001308	Tongue fasciculations	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0001308	HP:0001308	Tongue fasciculations	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0001308	HP:0001308	Tongue fasciculations	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001308	HP:0001308	Tongue fasciculations	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001308	HP:0001308	Tongue fasciculations	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040283 - Occasional	4
HP:0001308	HP:0001308	Tongue fasciculations	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0001308	HP:0001308	Tongue fasciculations	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0001308	HP:0001308	Tongue fasciculations	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0001308	HP:0001308	Tongue fasciculations	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0001308	HP:0001308	Tongue fasciculations	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0001308	HP:0001308	Tongue fasciculations	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040282 - Frequent	9
HP:0001308	HP:0001308	Tongue fasciculations	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12	.	62
HP:0001308	HP:0001308	Tongue fasciculations	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0001308	HP:0001308	Tongue fasciculations	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	94
HP:0001308	HP:0001308	Tongue fasciculations	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0001308	HP:0001308	Tongue fasciculations	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0001308	HP:0001308	Tongue fasciculations	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	HP:0040283 - Occasional	26
HP:0001308	HP:0001308	Tongue fasciculations	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	1053
HP:0001308	HP:0001308	Tongue fasciculations	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional	493
HP:0001308	HP:0001308	Tongue fasciculations	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.	493
HP:0001308	HP:0001308	Tongue fasciculations	0	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0001308	HP:0001308	Tongue fasciculations	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0001308	HP:0001308	Tongue fasciculations	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.	47
HP:0001308	HP:0001308	Tongue fasciculations	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0001308	HP:0001308	Tongue fasciculations	0	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I	.	22
HP:0001308	HP:0001308	Tongue fasciculations	0	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II	.	22
HP:0001308	HP:0001308	Tongue fasciculations	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.	22
HP:0001308	HP:0001308	Tongue fasciculations	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV	.	22
HP:0001308	HP:0001308	Tongue fasciculations	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.	1
HP:0001308	HP:0001308	Tongue fasciculations	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0001308	HP:0001308	Tongue fasciculations	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0001308	HP:0001308	Tongue fasciculations	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0001308	HP:0001308	Tongue fasciculations	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0001308	HP:0001308	Tongue fasciculations	0	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome	.	1
HP:0001308	HP:0001308	Tongue fasciculations	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040283 - Occasional	35
HP:0001308	HP:0001308	Tongue fasciculations	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0001308	HP:0001308	Tongue fasciculations	0	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040282 - Frequent	63
HP:0001308	HP:0001308	Tongue fasciculations	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0001308	HP:0001308	Tongue fasciculations	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0001308	HP:0001308	Tongue fasciculations	0	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO

Genes (42) :ADPRS AGTPBP1 AIFM1 ASAH1 ATP11A ATP1A2 CACNA1A CHCHD10 EGR2 EXOSC3 EXOSC8 EXOSC9 FXR1 KCNK9 LGI3 MEGF10 MPZ NDUFS4 NOP56 OPTN PMP22 PRRT2 PRUNE1 PRX RMND1 SCN1A SH3TC2 SLC25A21 SLC25A46 SLC52A2 SLC52A3 SMN1 SMN2 SPTLC1 SYT2 TBCD TOE1 TSPYL1 UBA1 VCP VRK1 VWA1

Diseases (43) :OMIM:618170 OMIM:618276 ORPHA:2254 OMIM:300816 ORPHA:238329 OMIM:159950 OMIM:619851 ORPHA:569 ORPHA:276435 OMIM:145900 OMIM:614678 OMIM:616081 OMIM:618065 OMIM:618823 OMIM:618822 ORPHA:166108 OMIM:620007 OMIM:614399 OMIM:252010 OMIM:614153 ORPHA:276198 OMIM:613435 ORPHA:544469 OMIM:614922 ORPHA:99949 OMIM:601596 OMIM:618811 OMIM:614707 OMIM:211530 OMIM:253300 OMIM:253550 OMIM:253400 OMIM:271150 OMIM:162400 OMIM:619461 OMIM:617193 OMIM:614969 OMIM:608800 ORPHA:1145 OMIM:301830 ORPHA:329475 OMIM:607596 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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