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:
Involuntary movements (HP:0004305)

Parent Node:
Tremor (HP:0001337)

..Starting node
..Resting tremor (HP:0002322)

Term ID:

2322

Name:

Resting tremor

Synonym:

Parkinsonian tremor; Rest tremor; Resting tremor; Tremor at rest

Definition:

A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.

Comments:

Reference:

HP:0002322

Genes and Diseases:

Child Nodes:

........

Pill-rolling tremor (HP:0025387)

Sister Nodes:

Action tremor (HP:0002345)

Rubral tremor (HP:0030665)

Tremor by anatomical site (HP:0030188)

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:0002322	HP:0002322	Resting tremor	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia	HP:0040283 - Occasional	25
HP:0002322	HP:0002322	Resting tremor	0	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia	HP:0040282 - Frequent	25
HP:0002322	HP:0002322	Resting tremor	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0002322	HP:0002322	Resting tremor	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0002322	HP:0002322	Resting tremor	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0002322	HP:0002322	Resting tremor	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism	HP:0040283 - Occasional	150
HP:0002322	HP:0002322	Resting tremor	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked	.	36
HP:0002322	HP:0002322	Resting tremor	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040281 - Very frequent	36
HP:0002322	HP:0002322	Resting tremor	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0002322	HP:0002322	Resting tremor	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0002322	HP:0002322	Resting tremor	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional	32
HP:0002322	HP:0002322	Resting tremor	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome		405
HP:0002322	HP:0002322	Resting tremor	0	CHCHD2 CL E G H	51142	21645	OMIM:616710	Parkinson disease 22, autosomal dominant	.	3
HP:0002322	HP:0002322	Resting tremor	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040283 - Occasional	54
HP:0002322	HP:0002322	Resting tremor	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent	54
HP:0002322	HP:0002322	Resting tremor	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0002322	HP:0002322	Resting tremor	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	2
HP:0002322	HP:0002322	Resting tremor	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040281 - Very frequent	6
HP:0002322	HP:0002322	Resting tremor	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset		6
HP:0002322	HP:0002322	Resting tremor	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional	145
HP:0002322	HP:0002322	Resting tremor	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	2
HP:0002322	HP:0002322	Resting tremor	0	EIF4G1 CL E G H	1981	3296	OMIM:614251	Parkinson disease 18	.	2
HP:0002322	HP:0002322	Resting tremor	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0002322	HP:0002322	Resting tremor	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040284 - Very rare	33
HP:0002322	HP:0002322	Resting tremor	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome		5
HP:0002322	HP:0002322	Resting tremor	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent
HP:0002322	HP:0002322	Resting tremor	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0002322	HP:0002322	Resting tremor	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0002322	HP:0002322	Resting tremor	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	8
HP:0002322	HP:0002322	Resting tremor	0	GIGYF2 CL E G H	26058	11960	OMIM:607688	PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11		8
HP:0002322	HP:0002322	Resting tremor	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0002322	HP:0002322	Resting tremor	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002322	HP:0002322	Resting tremor	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	221
HP:0002322	HP:0002322	Resting tremor	0	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant	.	221
HP:0002322	HP:0002322	Resting tremor	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040284 - Very rare	93
HP:0002322	HP:0002322	Resting tremor	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0002322	HP:0002322	Resting tremor	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome		950
HP:0002322	HP:0002322	Resting tremor	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0002322	HP:0002322	Resting tremor	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040283 - Occasional	950
HP:0002322	HP:0002322	Resting tremor	0	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs	HP:0040282 - Frequent	14
HP:0002322	HP:0002322	Resting tremor	0	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0002322	HP:0002322	Resting tremor	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0002322	HP:0002322	Resting tremor	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome		1
HP:0002322	HP:0002322	Resting tremor	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional	163
HP:0002322	HP:0002322	Resting tremor	0	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0002322	HP:0002322	Resting tremor	0	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	.	55
HP:0002322	HP:0002322	Resting tremor	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0002322	HP:0002322	Resting tremor	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040281 - Very frequent	6
HP:0002322	HP:0002322	Resting tremor	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0002322	HP:0002322	Resting tremor	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0002322	HP:0002322	Resting tremor	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	45
HP:0002322	HP:0002322	Resting tremor	0	PSAP CL E G H	5660	9498	OMIM:619491	PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24		81
HP:0002322	HP:0002322	Resting tremor	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	.	34
HP:0002322	HP:0002322	Resting tremor	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	125
HP:0002322	HP:0002322	Resting tremor	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	68
HP:0002322	HP:0002322	Resting tremor	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome		135
HP:0002322	HP:0002322	Resting tremor	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	65
HP:0002322	HP:0002322	Resting tremor	0	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.	65
HP:0002322	HP:0002322	Resting tremor	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0002322	HP:0002322	Resting tremor	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040281 - Very frequent	9
HP:0002322	HP:0002322	Resting tremor	0	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism	HP:0040282 - Frequent	21
HP:0002322	HP:0002322	Resting tremor	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.	7
HP:0002322	HP:0002322	Resting tremor	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0002322	HP:0002322	Resting tremor	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	113
HP:0002322	HP:0002322	Resting tremor	0	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0002322	HP:0002322	Resting tremor	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0002322	HP:0002322	Resting tremor	0	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset		8
HP:0002322	HP:0002322	Resting tremor	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	37
HP:0002322	HP:0002322	Resting tremor	0	VPS35 CL E G H	55737	13487	OMIM:614203	Parkinson disease 17	.	37
HP:0002322	HP:0025387	Pill-rolling tremor	1	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	405
HP:0002322	HP:0025387	Pill-rolling tremor	1	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset		6
HP:0002322	HP:0025387	Pill-rolling tremor	1	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	5
HP:0002322	HP:0025387	Pill-rolling tremor	1	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	950
HP:0002322	HP:0025387	Pill-rolling tremor	1	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	1
HP:0002322	HP:0025387	Pill-rolling tremor	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0002322	HP:0025387	Pill-rolling tremor	1	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	135

Genes (55) :ADCY5 ADH1C ALDH18A1 ATP13A2 ATP1A3 ATP6AP2 ATXN2 ATXN8OS CACNA1G CDKL5 CHCHD2 COQ2 CYP27A1 DNAJC13 DNAJC6 DNMT1 EIF4G1 FMR1 FTL GABBR2 GBA1 GCH1 GIGYF2 GLUD2 KCNN2 LRRK2 MAN1B1 MAPT MECP2 MICU1 NR4A2 NTNG1 OPA3 PARK7 PINK1 PLA2G6 PODXL POLG POLG2 PSAP RAB39B RRM2B SLC25A4 SMC1A SNCA SNCAIP SYNJ1 TAF1 TBP TRNT TWNK UQCRC1 VPS13A VPS13C VPS35

Diseases (44) :OMIM:606703 ORPHA:324588 OMIM:168600 OMIM:601162 OMIM:617225 ORPHA:71517 OMIM:300911 ORPHA:363654 ORPHA:458803 ORPHA:3095 OMIM:616710 ORPHA:227510 ORPHA:98933 ORPHA:909 ORPHA:411602 ORPHA:391411 OMIM:615528 ORPHA:314404 OMIM:614251 OMIM:300623 ORPHA:157846 OMIM:128230 OMIM:607688 OMIM:619725 OMIM:607060 ORPHA:397941 OMIM:300055 ORPHA:3077 ORPHA:401768 OMIM:619911 ORPHA:67036 OMIM:606324 OMIM:605909 OMIM:612953 ORPHA:254892 OMIM:157640 OMIM:619491 OMIM:311510 OMIM:168601 ORPHA:53351 OMIM:619279 ORPHA:2388 OMIM:616840 OMIM:614203

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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