Human Phenotype Ontology 
Grandparent Node:
expandAction tremor (HP:0002345)help
Parent Node:
expandAbnormal head movements (HP:0002457)help
Parent Node:
expandHead tremor (HP:0002346)help
Parent Node:
expandTitubation (HP:0030187)help
..Starting node
..expandHead titubation (HP:0002599)help
Term ID: 2599
Name: Head titubation
Synonym:
Definition: A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.
Comments:
Reference: HP:0002599
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandTruncal titubation (HP:0030147) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002599HP:0002599Head titubation0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0002599HP:0002599Head titubation0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0002599HP:0002599Head titubation0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0002599HP:0002599Head titubation0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002599HP:0002599Head titubation0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0002599HP:0002599Head titubation0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0002599HP:0002599Head titubation0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyHP:0040284 - Very rare32
HP:0002599HP:0002599Head titubation0KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive.38
HP:0002599HP:0002599Head titubation0LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndromeHP:0040283 - Occasional35
HP:0002599HP:0002599Head titubation0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0002599HP:0002599Head titubation0NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent2
HP:0002599HP:0002599Head titubation0NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy.2
HP:0002599HP:0002599Head titubation0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0002599HP:0002599Head titubation0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0002599HP:0002599Head titubation0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0002599HP:0002599Head titubation0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0002599HP:0002599Head titubation0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002599HP:0002599Head titubation0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0002599HP:0002599Head titubation0TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0002599HP:0002599Head titubation0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive.21
HP:0002599HP:0002599Head titubation0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130


Genes (19) :AARS1 ALS2 EIF2AK2 FUS GJC2 HIBCH KIF1C LAMA1 LMNB1 NKX6-2 PI4KA PLP1 SIGMAR1 SPG11 SPTBN1 SPTLC1 TMEM63A UCHL1 VPS13A

Diseases (17) :OMIM:619691 OMIM:205100 ORPHA:300605 OMIM:618877 OMIM:608804 ORPHA:88639 OMIM:611302 ORPHA:370022 ORPHA:99027 ORPHA:527497 OMIM:617560 OMIM:619708 OMIM:312080 OMIM:619475 OMIM:618688 OMIM:615491 ORPHA:2388
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.