Huntington disease-like 1

General Information (adopted from Orphanet):

Synonyms, Signs: HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER 1
HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER, AUTOSOMAL DOMINANT
PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES
HLN1
HDL1
Early onset prion disease with prominent psychiatric features
Number of Symptoms 21
OrphanetNr: 157941
OMIM Id: 603218
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Inherited prion disease
 -Rare neurologic disease
Neurodegenerative disease with chorea
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000739) Anxiety 67 / 7739
2
 (HPO:0000726) Dementia 131 / 7739
3
 (HPO:0000716) Depression 99 / 7739
4
 (HPO:0002063) Rigidity 92 / 7739
5
 (HPO:0001260) Dysarthria 329 / 7739
6
 (HPO:0001268) Mental deterioration 88 / 7739
7
 (HPO:0002317) Unsteady gait 45 / 7739
8
 (HPO:0001310) Dysmetria 76 / 7739
9
 (HPO:0000751) Personality changes 33 / 7739
10
 (HPO:0000718) Aggressive behavior 109 / 7739
11
 (HPO:0002072) Chorea 53 / 7739
12
 (HPO:0002311) Incoordination 84 / 7739
13
 (HPO:0000711) Restlessness 18 / 7739
14
 (HPO:0001251) Ataxia 413 / 7739
15
 (HPO:0000746) Delusions 21 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
 (OMIM) Mild spongiosis 2 / 7739
18
 (HPO:0002283) Global brain atrophy 12 / 7739
19
 (OMIM) Fibrillary plaques in the cerebellar cortex 1 / 7739
20
 (MedDRA:10061991) Grimacing 4 / 7739
21
 (HPO:0006999) Basal ganglia gliosis 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Andrew et al. (1994) found that 30 of 1,022 persons (2.9%) diagnosed as having Huntington disease (HD; 143100) did not have an expanded CAG repeat in the disease range in the huntingtin gene (HTT; 613004). After excluding errors ...
Molecular genetics OMIM In 4 symptomatic subjects from a French kindred with a neurodegenerative disease with prominent psychiatric manifestations, Laplanche et al. (1999) identified a heterozygous 192-bp insertion (8 extra repeats of 24 bp each) in the octapeptide coding region of ...