MCID: HNT013
MIFTS: 15

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 26 38 6 74
Huntington's Disease Phenocopy Syndromes 26
Huntington's Disease-Like Syndromes 26
Huntington Disease-Like Syndromes 26
Huntington's Disease Phenocopies 26

Classifications:



External Ids:

KEGG 38 H01243
UMLS 74 C3711380

Summaries for Huntington Disease-Like Syndrome

Genetics Home Reference : 26 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.

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 huntington disease. An important gene associated with Huntington Disease-Like Syndrome is HDL3 (Huntington-Like Neurodegenerative Disorder 2). Affiliated tissues include brain.

Wikipedia : 77 Huntington''s disease-like syndromes (HD-like or HDL syndromes) are a family of inherited... more...

Related Diseases for Huntington Disease-Like Syndrome

Diseases in the Huntington Disease family:

Huntington Disease-Like 1 Huntington Disease-Like 3
Huntington Disease-Like 2 Juvenile Huntington Disease
Huntington Disease-Like Syndrome Huntington Disease-Like Syndrome Due to C9orf72 Expansions

Diseases related to Huntington Disease-Like Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 huntington disease-like syndrome due to c9orf72 expansions 12.4
2 huntington disease 10.0
3 xeroderma pigmentosum, variant type 10.0

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:

42
Brain

Publications for Huntington Disease-Like Syndrome

Articles related to Huntington Disease-Like Syndrome:

# Title Authors Year
1
Huntington's disease phenocopy syndromes. ( 17992089 )
2007

Variations for Huntington Disease-Like Syndrome

ClinVar genetic disease variations for Huntington Disease-Like Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PSEN2 NM_000447.2(PSEN2): c.448G> A (p.Val150Met) single nucleotide variant Conflicting interpretations of pathogenicity rs866044092 GRCh38 Chromosome 1, 226885629: 226885629
2 PSEN2 NM_000447.2(PSEN2): c.448G> A (p.Val150Met) single nucleotide variant Conflicting interpretations of pathogenicity rs866044092 GRCh37 Chromosome 1, 227073330: 227073330

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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