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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Chorea (D002819)
Parent Node: Cognition Disorders (D003072)
Parent Node: Dementia (D003704)
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
..Starting node ..Huntington Disease-Like 2 (C564708)
Child Nodes:
Sister Nodes:
..Alexander Disease (D038261) 1
..Amyloid Neuropathies, Familial (D028227) 1
..Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..Bulbo-Spinal Atrophy, X-Linked (D055534) 1
..Canavan Disease (D017825)
..Cerebrocortical Degeneration of Infancy (C565863)
..Cockayne Syndrome (D003057) 6
..Dystonia Musculorum Deformans (D004422) 7
..Familial encephalopathy with neuroserpin inclusion bodies (C536841)
..Fatty Acid Hydroxylase-Associated Neurodegeneration (C580102)
..Gerstmann-Straussler-Scheinker Disease (D016098)
..Hepatolenticular Degeneration (D006527) 2
..Hereditary Central Nervous System Demyelinating Diseases (D020279) 29
..Hereditary Sensory and Autonomic Neuropathies (D009477) 12
..Hereditary Sensory and Motor Neuropathy (D015417) 164
..Huntington Disease (D006816) 3
..Huntington Disease-Like 2 (C564708)
..Huntington Disease-Like Syndrome (C580174)
..Lafora Disease (D020192)
..Lesch-Nyhan Syndrome (D007926) 1
..Lipodystrophy with Congenital Cataracts and Neurodegeneration (C564669)
..Menkes Kinky Hair Syndrome (D007706) 1
..Mental Retardation, X-Linked (D038901) 134
..Microphthalmia, Syndromic 10 (C566985)
..Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (C563378)
..Myotonia Congenita (D009224) 5
..Myotonic Dystrophy (D009223) 1
..Navajo neurohepatopathy (C538344) 1
..Neuroacanthocytosis (D054546) 1
..Neurofibromatoses (D017253) 13
..Neuronal Ceroid-Lipofuscinoses (D009472) 9
..Neuropathy, Hereditary Sensory, Atypical (C564946)
..Optic Atrophies, Hereditary (D015418) 30
..Opticocochleodentate Degeneration (C563002)
..Pantothenate Kinase-Associated Neurodegeneration (D006211) 1
..Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain (C564894)
..Rett Syndrome (D015518) 5
..Scapuloperoneal Syndrome, Neurogenic, Kaeser Type (C566695)
..Spinal Muscular Atrophies of Childhood (D014897) 7
..Spinocerebellar Degenerations (D013132) 85
..Spongiform Encephalopathy with Neuropsychiatric Features (C564678)
..Tourette Syndrome (D005879) 2
..Tuberous Sclerosis (D014402) 4
..Unverricht-Lundborg Syndrome (D020194)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5286

Name:

Huntington Disease-Like 2

Definition:

Alternative IDs:

OMIM:606438

ParentIDs:

MESH:D002819|MESH:D003072|MESH:D003704|MESH:D020271

TreeNumbers:

C10.228.140.380/C564708 |C10.228.662.262.249/C564708 |C10.574.500/C564708 |C10.597.350.250/C564708 |C16.320.400/C564708 |C23.888.592.350.250/C564708 |F03.087.250/C564708 |F03.087.400/C564708

Synonyms:

HDL2

Slim Mappings:

Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms

Reference:

MedGen: C564708
MeSH: C564708
OMIM: 606438;

Genes: JPH3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002345	Action tremor
3	HP:0000739	Anxiety
4	HP:0000741	Apathy
5	HP:0002067	Bradykinesia
6	HP:0002072	Chorea
7	HP:0000746	Delusions
8	HP:0000726	Dementia
9	HP:0000716	Depression
10	HP:0001260	Dysarthria
11	HP:0001332	Dystonia
12	HP:0000738	Hallucinations
13	HP:0001347	Hyperreflexia
14	HP:0000737	Irritability
15	HP:0002063	Rigidity
16	HP:0001824	Weight loss

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_001271604.2(JPH3):c.431_433CTG(6_27) (p.Ala150_Ala157del)	57338	JPH3	Pathogenic	193922903	RCV000005426;	N	MedGen:C1847987,OMIM:606438,ORPHA:98934	16	87637894	87637896	NM_001271604.2:c.431_433CTG(6_27)	NP_001258533.1:p.Ala150_Ala157del		OMIM Allelic Variant:605268.0001	C1847987 606438 Huntington disease-like 2