Huntington disease

General Information (adopted from Orphanet):

Synonyms, Signs: HD
huntington chorea
Number of Symptoms 55
OrphanetNr: 399
OMIM Id: 143100
ICD-10: G10
UMLs: C0020179
MeSH: D006816
MedDRA:
Snomed: 58756001

Prevalence, inheritance and age of onset:

Prevalence: < 9 of 100 000
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic neurodegenerative disease
 -Rare genetic disease
Genetic neurodegenerative disease with dementia
 -Rare genetic disease
Neurodegenerative disease with chorea
 -Rare genetic disease
 -Rare neurologic disease
Neurodegenerative disease with dementia
 -Rare neurologic disease
Oculomotor apraxia or related oculomotor disease
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000570) Abnormality of saccadic eye movements 18185924 IBIS 12 / 7739
2
(HPO:0000514) Slow saccadic eye movements 9425536 IBIS 21 / 7739
3
(HPO:0000734) Disinhibition 20301482 IBIS 13 / 7739
4
(HPO:0001347) Hyperreflexia 2145146 IBIS 363 / 7739
5
(HPO:0000751) Personality changes 24566795 IBIS 33 / 7739
6
(HPO:0001257) Spasticity Frequent [Orphanet] 12820545 IBIS 251 / 7739
7
(HPO:0002360) Sleep disturbance 21171977 IBIS 113 / 7739
8
(HPO:0000741) Apathy 20301482 IBIS 42 / 7739
9
(HPO:0002063) Rigidity Frequent [Orphanet] Occasional [HPO] 23671115 IBIS 92 / 7739
10
(HPO:0002376) Developmental regression Frequent [Orphanet] 15526960 IBIS 74 / 7739
11
(HPO:0002067) Bradykinesia 20804986 IBIS 62 / 7739
12
(HPO:0000716) Depression 23678106 IBIS 99 / 7739
13
(HPO:0002066) Gait ataxia 20804986 IBIS 327 / 7739
14
(HPO:0002072) Chorea 20804986 IBIS 53 / 7739
15
(HPO:0000739) Anxiety 20301482 IBIS 67 / 7739
16
(HPO:0001251) Ataxia 12820545 IBIS 413 / 7739
17
(HPO:0001250) Seizures 11553930 IBIS 1245 / 7739
18
(HPO:0007034) Generalized hyperreflexia 10749290 IBIS 33 / 7739
19
(HPO:0002267) Exaggerated startle response 23874679 IBIS 42 / 7739
20
(HPO:0000737) Irritability 20301482 IBIS 93 / 7739
21
(HPO:0002353) EEG abnormality Frequent [Orphanet] 25015843 IBIS 188 / 7739
22
(HPO:0008376) Nasal, dysarthic speech Frequent [Orphanet] 23853009 IBIS 8 / 7739
23
(HPO:0001268) Mental deterioration Frequent [Orphanet] typical [HPO] 1293994 IBIS 88 / 7739
24
(HPO:0001327) Photomyoclonic seizures 149349 IBIS 125 / 7739
25
(HPO:0002304) Akinesia 21171977 IBIS 18 / 7739
26
(HPO:0000726) Dementia Frequent [Orphanet] 15381897 IBIS 131 / 7739
27
(HPO:0002015) Dysphagia 20301482 IBIS 301 / 7739
28
(HPO:0100022) Abnormality of movement Frequent [Orphanet] 15381897 IBIS 129 / 7739
29
(HPO:0000746) Delusions 20301482 IBIS 21 / 7739
30
(HPO:0000738) Hallucinations 20301482 IBIS 60 / 7739
31
(HPO:0001332) Dystonia 20301482 IBIS 197 / 7739
32
(HPO:0000713) Agitation 20301482 IBIS 18 / 7739
33
(HPO:0100033) Tics 21171977 IBIS 6 / 7739
34
(HPO:0002311) Incoordination 25123926 IBIS 84 / 7739
35
(HPO:0002312) Clumsiness 20301482 IBIS 28 / 7739
36
(HPO:0002361) Psychomotor deterioration Frequent [Orphanet] typical [HPO] 19901559 IBIS 26 / 7739
37
(HPO:0000708) Behavioral abnormality Frequent [Orphanet] 11723754 IBIS 212 / 7739
38
(HPO:0001276) Hypertonia Frequent [Orphanet] 8158206 IBIS 317 / 7739
39
(HPO:0001824) Weight loss 20301482 IBIS 42 / 7739
40
(HPO:0100271) Hyponasal speech Frequent [Orphanet] 5808852 IBIS 7 / 7739
41
(HPO:0001611) Nasal speech Frequent [Orphanet] 5808852 IBIS 48 / 7739
42
(HPO:0001608) Abnormality of the voice Frequent [Orphanet] 23762447 IBIS 126 / 7739
43
(MedDRA:10042464) Suicide attempt 21171977 IBIS 1 / 7739
44
(MedDRA:10050280) Self esteem decreased 21171977 IBIS 1 / 7739
45
(HPO:0002529) Neuronal loss in central nervous system 15836623 IBIS 37 / 7739
46
(HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 2145146 IBIS 187 / 7739
47
(HPO:0001272) Cerebellar atrophy 15452288 IBIS 197 / 7739
48
(OMIM) Oral motor dysfunction (juvenile form) 2146877 IBIS 2 / 7739
49
(MedDRA:10008589) Choking 21171977 IBIS 6 / 7739
50
(HPO:0100308) Cerebral cortical hemiatrophy Frequent [Orphanet] 20720508 IBIS 7 / 7739
51
(HPO:0002171) Gliosis 22359398 IBIS 48 / 7739
52
(MedDRA:10009191) Circadian rhythm sleep disorder 21171977 IBIS 1 / 7739
53
(MedDRA:10049708) Feeling guilty 21171977 IBIS 1 / 7739
54
(MedDRA:10065954) Stubbornness 20301482 IBIS 5 / 7739
55
(OMIM) Neuronal loss and gliosis in caudate and putamen 23754216 IBIS 2 / 7739

Associated genes:

HTT; SLC2A3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dystonia, incoordination, cognitive decline, and behavioral difficulties. There is progressive, selective neural cell loss and atrophy in the caudate and putamen. ...
Diagnosis OMIM - Prenatal Diagnosis

Harper and Sarfarazi (1985) pointed out that predictive testing can be done in prenatal diagnosis without determining the status of the at-risk parent. For example, if the affected grandparent of the fetus is ...

Clinical Description OMIM The classic signs of Huntington disease are progressive chorea, rigidity, and dementia. A characteristic atrophy of the caudate nucleus is seen radiographically. Typically, there is a prodromal phase of mild psychotic and behavioral symptoms which precedes frank chorea ...
Molecular genetics OMIM The Huntington's Disease Collaborative Research Group (1993) identified an expanded (CAG)n repeat on 1 allele of the HTT gene (613004.0001) in affected members from all of 75 HD families examined. The families came from a variety of ethnic ...
Population genetics OMIM Huntington disease has a frequency of 4 to 7 per 100,000 persons. Reed and Chandler (1958) estimated the frequency of recognized Huntington chorea in the Michigan lower peninsula to be about 4.12 x 10(-5) and the total frequency ...
Diagnosis GeneReviews The diagnosis of Huntington disease (HD) is suspected clinically in the presence of the following:...
Clinical Description GeneReviews At-risk individuals who have a Huntington disease-causing allele are healthy and free of detectable clinical signs or symptoms prior to onset and diagnosis of Huntington disease (HD). Preclinically, however, a phase (often referred to as 'presymptomatic' phase) exists in which people may have subtle and otherwise undetected changes in motor skills, cognition, and personality [Walker 2007]. ...
Differential Diagnosis GeneReviews Huntington disease (HD) falls into the differential diagnosis of chorea, dementia, and psychiatric disturbances. The differential diagnosis of several HD-like disorders has recently been reviewed [Semaka et al 2008, Schneider et al 2007]....
Management GeneReviews To establish the extent of disease in an individual diagnosed with Huntington disease (HD), the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....