MCID: HNT013
MIFTS: 20

Huntington Disease-Like Syndrome

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Huntington Disease-Like Syndrome

MalaCards integrated aliases for Huntington Disease-Like Syndrome:

Name: Huntington Disease-Like Syndrome 25 59 37 6 72
Huntington's Disease Phenocopy Syndromes 25
Huntington Disease Phenocopy Syndrome 59
Huntington's Disease-Like Syndromes 25
Huntington Disease-Like Syndromes 25
Huntington's Disease Phenocopies 25

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

KEGG 37 H01243
UMLS via Orphanet 73 C3711380
Orphanet 59 ORPHA158266
UMLS 72 C3711380

Summaries for Huntington Disease-Like Syndrome

Genetics Home Reference : 25 As its name suggests, a Huntington disease-like (HDL) syndrome is a condition that resembles Huntington disease. Researchers have described four HDL syndromes, designated Huntington disease-like 1 (HDL1) through Huntington disease-like 4 (HDL4). These progressive brain disorders are characterized by uncontrolled movements, emotional problems, and loss of thinking ability. HDL syndromes occur in people with the characteristic features of Huntington disease who do not have a mutation in HD, the gene typically associated with that disorder. HDL1, HDL2, and HDL4 usually appear in early to mid-adulthood, although they can begin earlier in life. The first signs and symptoms of these conditions often include irritability, emotional problems, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many affected people develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these abnormal movements become more pronounced. Affected individuals may develop problems with walking, speaking, and swallowing. People with these disorders also experience changes in personality and a decline in thinking and reasoning abilities. Individuals with an HDL syndrome can live for a few years to more than a decade after signs and symptoms begin. HDL3 begins much earlier in life than most of the other HDL syndromes (usually around age 3 or 4). Affected children experience a decline in thinking ability, difficulties with movement and speech, and seizures. Because HDL3 has a somewhat different pattern of signs and symptoms and a different pattern of inheritance, researchers are unsure whether it belongs in the same category as the other HDL syndromes.

MalaCards based summary : Huntington Disease-Like Syndrome, also known as huntington's disease phenocopy syndromes, is related to huntington disease-like syndrome due to c9orf72 expansions and dentatorubral-pallidoluysian atrophy. An important gene associated with Huntington Disease-Like Syndrome is HDL3 (Huntington-Like Neurodegenerative Disorder 2). Affiliated tissues include brain and testes.

KEGG : 37
Huntington disease (HD), which is caused by a triplet-repeat expansion in the IT15 gene (also known as huntingtin or HD), accounts for about 90% of cases of chorea of genetic etiology. In recent years, several other distinct genetic disorders have been identified that can present with a clinical picture indistinguishable from HD, termed HD-like (HDL) syndromes. So far, four genes associated with HDL syndromes have been identified, including the prion protein gene (HDL1), the junctophilin 3 gene (HDL2) and, the gene encoding the TATA box-binding protein (HDL4).

Related Diseases for Huntington Disease-Like Syndrome

Graphical network of the top 20 diseases related to Huntington Disease-Like Syndrome:



Diseases related to Huntington Disease-Like Syndrome

Symptoms & Phenotypes for Huntington Disease-Like Syndrome

Drugs & Therapeutics for Huntington Disease-Like Syndrome

Search Clinical Trials , NIH Clinical Center for Huntington Disease-Like Syndrome

Genetic Tests for Huntington Disease-Like Syndrome

Anatomical Context for Huntington Disease-Like Syndrome

MalaCards organs/tissues related to Huntington Disease-Like Syndrome:

41
Brain, Testes

Publications for Huntington Disease-Like Syndrome

Articles related to Huntington Disease-Like Syndrome:

# Title Authors PMID Year
1
Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome. 38
29376097 2018
2
C9ORF72 mutations in neurodegenerative diseases. 38
23934648 2014
3
Huntington's disease and Huntington's disease-like syndromes: an overview. 38
23812307 2013
4
The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician. 38
22993450 2013
5
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. 38
23434116 2013
6
The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test. 38
17805246 2007

Variations for Huntington Disease-Like Syndrome

ClinVar genetic disease variations for Huntington Disease-Like Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PSEN2 NM_000447.3(PSEN2): c.448G> A (p.Val150Met) single nucleotide variant Conflicting interpretations of pathogenicity rs866044092 1:227073330-227073330 1:226885629-226885629

Expression for Huntington Disease-Like Syndrome

Search GEO for disease gene expression data for Huntington Disease-Like Syndrome.

Pathways for Huntington Disease-Like Syndrome

GO Terms for Huntington Disease-Like Syndrome

Sources for Huntington Disease-Like Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....