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:
Tremor (HP:0001337)

Parent Node:
Tremor by anatomical site (HP:0030188)

..Starting node
..Hand tremor (HP:0002378)

Term ID:

2378

Name:

Hand tremor

Synonym:

Hand tremor; Tremor of hand; Tremor of hands; tremors in hands

Definition:

An unintentional, oscillating to-and-fro muscle movement affecting the hand.

Comments:

Reference:

HP:0002378

Genes and Diseases:

Child Nodes:

Sister Nodes:

Head tremor (HP:0002346)

Limb tremor (HP:0200085)

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:0002378	HP:0002378	Hand tremor	0	ABCB6 CL E G H	10058	47	OMIM:609153	Pseudohyperkalemia, familial, 2, due to red cell leak		20
HP:0002378	HP:0002378	Hand tremor	0	ADRA2B CL E G H	151	282	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040281 - Very frequent	3
HP:0002378	HP:0002378	Hand tremor	0	ANO3 CL E G H	63982	14004	ORPHA:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement	HP:0040283 - Occasional	17
HP:0002378	HP:0002378	Hand tremor	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0002378	HP:0002378	Hand tremor	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040281 - Very frequent	114
HP:0002378	HP:0002378	Hand tremor	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0002378	HP:0002378	Hand tremor	0	CNTN2 CL E G H	6900	2172	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040281 - Very frequent	9
HP:0002378	HP:0002378	Hand tremor	0	CTNND2 CL E G H	1501	2516	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040281 - Very frequent	15
HP:0002378	HP:0002378	Hand tremor	0	DRD3 CL E G H	1814	3024	OMIM:190300	Tremor, hereditary essential, 1	.	21
HP:0002378	HP:0002378	Hand tremor	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional	18
HP:0002378	HP:0002378	Hand tremor	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040283 - Occasional	18
HP:0002378	HP:0002378	Hand tremor	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040283 - Occasional	47
HP:0002378	HP:0002378	Hand tremor	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0002378	HP:0002378	Hand tremor	0	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency	HP:0040282 - Frequent	237
HP:0002378	HP:0002378	Hand tremor	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0002378	HP:0002378	Hand tremor	0	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0002378	HP:0002378	Hand tremor	0	MARCHF6 CL E G H	10299	30550	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040281 - Very frequent
HP:0002378	HP:0002378	Hand tremor	0	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70	HP:0040282 - Frequent
HP:0002378	HP:0002378	Hand tremor	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent	203
HP:0002378	HP:0002378	Hand tremor	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0002378	HP:0002378	Hand tremor	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040284 - Very rare	9
HP:0002378	HP:0002378	Hand tremor	0	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6	.	4
HP:0002378	HP:0002378	Hand tremor	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6	HP:0040281 - Very frequent	4
HP:0002378	HP:0002378	Hand tremor	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0002378	HP:0002378	Hand tremor	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0002378	HP:0002378	Hand tremor	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0002378	HP:0002378	Hand tremor	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0002378	HP:0002378	Hand tremor	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69	HP:0040282 - Frequent	135
HP:0002378	HP:0002378	Hand tremor	0	SAMD12 CL E G H	401474	31750	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040281 - Very frequent	2
HP:0002378	HP:0002378	Hand tremor	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	HP:0040282 - Frequent	12
HP:0002378	HP:0002378	Hand tremor	0	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II	.	22
HP:0002378	HP:0002378	Hand tremor	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.	22
HP:0002378	HP:0002378	Hand tremor	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV	.	22
HP:0002378	HP:0002378	Hand tremor	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.	1
HP:0002378	HP:0002378	Hand tremor	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0002378	HP:0002378	Hand tremor	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional	14
HP:0002378	HP:0002378	Hand tremor	0	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism	HP:0040282 - Frequent	21
HP:0002378	HP:0002378	Hand tremor	0	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp		271
HP:0002378	HP:0002378	Hand tremor	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	HP:0040283 - Occasional	18
HP:0002378	HP:0002378	Hand tremor	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0002378	HP:0002378	Hand tremor	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0002378	HP:0002378	Hand tremor	0	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism	HP:0040281 - Very frequent	97
HP:0002378	HP:0002378	Hand tremor	0	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor	HP:0040281 - Very frequent	97
HP:0002378	HP:0002378	Hand tremor	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0002378	HP:0002378	Hand tremor	0	YEATS2 CL E G H	55689	25489	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040281 - Very frequent	1
HP:0002378	HP:0002378	Hand tremor	0	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71	HP:0040282 - Frequent	1
HP:0002378	HP:0002378	Hand tremor	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040283 - Occasional	189

Genes (42) :ABCB6 ADRA2B ANO3 ATP7B C19ORF12 CAMTA1 CNTN2 CTNND2 DRD3 ERLIN2 FGF14 GBA2 GCK GJB1 KCNN2 MARCHF6 MARS1 MFN2 NEFL NOP56 PDK3 PHIP PLA2G6 PMP2 POLG RAB3GAP2 SAMD12 SLC6A17 SMN1 SMN2 SPTLC1 STUB1 TAF1 TBC1D24 TFG TOR1A TRAPPC6B TSHR VRK1 YEATS2 ZFR ZFYVE26

Diseases (41) :OMIM:609153 ORPHA:86814 ORPHA:420485 OMIM:277900 ORPHA:289560 OMIM:614756 OMIM:190300 ORPHA:209951 ORPHA:280384 ORPHA:98764 OMIM:614409 ORPHA:79299 OMIM:302800 OMIM:619724 ORPHA:401835 ORPHA:99947 ORPHA:101085 ORPHA:276198 OMIM:300905 ORPHA:352675 ORPHA:589905 OMIM:612953 OMIM:618279 OMIM:157640 ORPHA:401830 ORPHA:457212 OMIM:253550 OMIM:253400 OMIM:271150 OMIM:162400 ORPHA:412057 ORPHA:53351 OMIM:608105 OMIM:604484 OMIM:618947 OMIM:617862 ORPHA:99819 ORPHA:424 OMIM:607596 ORPHA:401840 ORPHA:100996

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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