MCID: HNT010
MIFTS: 27

Huntington Disease-Like 1

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Huntington Disease-Like 1

MalaCards integrated aliases for Huntington Disease-Like 1:

Name: Huntington Disease-Like 1 57 12 59 75 29 13 6 73
Hdl1 57 12 59 75
Early-Onset Prion Disease with Prominent Psychiatric Features 12 59
Huntington-Like Neurodegenerative Disorder 1 57 12
Hln1 57 12
Prion Disease, Early-Onset, with Prominent Psychiatric Features 57
Huntington-Like Neurodegenerative Disorder, Autosomal Dominant 57
Autosomal Dominant Huntington-Like Neurodegenerative Disorder 12
Huntington-Like Neurodegenerative Disorder 1; Hln1 57
Huntington Disease-Like, Type 1 40
Huntington's Disease-Like 1 12

Characteristics:

Orphanet epidemiological data:

59
huntington disease-like 1
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
mean age at onset 28 years
prominent psychiatric symptoms


HPO:

32
huntington disease-like 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Huntington Disease-Like 1

Disease Ontology : 12 A prion disease characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has material basis in the presence of 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13.

MalaCards based summary : Huntington Disease-Like 1, also known as hdl1, is related to huntington disease-like syndrome, and has symptoms including ataxia, muscle rigidity and grimacing. An important gene associated with Huntington Disease-Like 1 is PRNP (Prion Protein). Affiliated tissues include eye, brain and cortex, and related phenotypes are chorea and depressivity

UniProtKB/Swiss-Prot : 75 Huntington disease-like 1: Autosomal dominant, early-onset neurodegenerative disorder with prominent psychiatric features.

Description from OMIM: 603218

Related Diseases for Huntington Disease-Like 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 huntington disease-like syndrome 11.1

Symptoms & Phenotypes for Huntington Disease-Like 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
dysarthria
chorea
dysmetria
rigidity
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
restlessness
personality changes
delusions
depression
more

Clinical features from OMIM:

603218

Human phenotypes related to Huntington Disease-Like 1:

59 32 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chorea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002072
2 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
3 dementia 59 32 frequent (33%) Frequent (79-30%) HP:0000726
4 delusions 59 32 frequent (33%) Frequent (79-30%) HP:0000746
5 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
6 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
7 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
8 mask-like facies 59 32 occasional (7.5%) Occasional (29-5%) HP:0000298
9 slow saccadic eye movements 59 32 occasional (7.5%) Occasional (29-5%) HP:0000514
10 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
11 restlessness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000711
12 delayed speech and language development 59 32 occasional (7.5%) Occasional (29-5%) HP:0000750
13 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
14 cerebellar atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001272
15 generalized hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001290
16 dysmetria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001310
17 slurred speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0001350
18 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
19 bradykinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002067
20 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
21 abnormality of the basal ganglia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002134
22 gliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002171
23 incoordination 59 32 Occasional (29-5%) HP:0002311
24 clumsiness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002312
25 eeg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0002353
26 memory impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002354
27 frequent falls 59 32 occasional (7.5%) Occasional (29-5%) HP:0002359
28 hypokinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002375
29 abnormal posturing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002533
30 abnormality of the shoulder 59 32 occasional (7.5%) Occasional (29-5%) HP:0003043
31 hyperactive deep tendon reflexes 59 32 occasional (7.5%) Occasional (29-5%) HP:0006801
32 jerky head movements 59 32 occasional (7.5%) Occasional (29-5%) HP:0006961
33 poor fine motor coordination 59 32 occasional (7.5%) Occasional (29-5%) HP:0007010
34 jerky ocular pursuit movements 59 32 occasional (7.5%) Occasional (29-5%) HP:0008003
35 simultanapraxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0040201
36 behavioral abnormality 59 Frequent (79-30%)
37 gait disturbance 59 Frequent (79-30%)
38 involuntary movements 59 Frequent (79-30%)
39 cognitive impairment 59 Frequent (79-30%)
40 abnormality of eye movement 59 Occasional (29-5%)
41 abnormality of saccadic eye movements 59 Occasional (29-5%)
42 abnormality of ocular smooth pursuit 59 Occasional (29-5%)
43 abnormal head movements 59 Occasional (29-5%)
44 abnormality of higher mental function 59 Occasional (29-5%)
45 aggressive behavior 32 HP:0000718
46 anxiety 32 HP:0000739
47 personality changes 32 HP:0000751
48 rigidity 32 HP:0002063
49 global brain atrophy 32 HP:0002283
50 unsteady gait 32 HP:0002317

UMLS symptoms related to Huntington Disease-Like 1:


ataxia, muscle rigidity, grimacing, personality changes, restlessness

Drugs & Therapeutics for Huntington Disease-Like 1

Search Clinical Trials , NIH Clinical Center for Huntington Disease-Like 1

Genetic Tests for Huntington Disease-Like 1

Genetic tests related to Huntington Disease-Like 1:

# Genetic test Affiliating Genes
1 Huntington Disease-Like 1 29 PRNP

Anatomical Context for Huntington Disease-Like 1

MalaCards organs/tissues related to Huntington Disease-Like 1:

41
Eye, Brain, Cortex

Publications for Huntington Disease-Like 1

Variations for Huntington Disease-Like 1

ClinVar genetic disease variations for Huntington Disease-Like 1:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRNP NM_000311.4(PRNP) NT expansion Pathogenic rs193922906 GRCh37 Chromosome 20, 4680026: 4680049
2 PRNP NM_000311.4(PRNP) NT expansion Pathogenic rs193922906 GRCh38 Chromosome 20, 4699380: 4699403
3 PRNP NM_000311.4(PRNP): c.598G> A (p.Glu200Lys) single nucleotide variant Pathogenic rs28933385 GRCh37 Chromosome 20, 4680464: 4680464
4 PRNP NM_000311.4(PRNP): c.598G> A (p.Glu200Lys) single nucleotide variant Pathogenic rs28933385 GRCh38 Chromosome 20, 4699818: 4699818
5 PRNP NM_000311.4(PRNP): c.593T> C (p.Phe198Ser) single nucleotide variant Pathogenic rs74315405 GRCh37 Chromosome 20, 4680459: 4680459
6 PRNP NM_000311.4(PRNP): c.593T> C (p.Phe198Ser) single nucleotide variant Pathogenic rs74315405 GRCh38 Chromosome 20, 4699813: 4699813
7 PRNP NM_000311.4(PRNP): c.628G> A (p.Val210Ile) single nucleotide variant Pathogenic rs74315407 GRCh37 Chromosome 20, 4680494: 4680494
8 PRNP NM_000311.4(PRNP): c.628G> A (p.Val210Ile) single nucleotide variant Pathogenic rs74315407 GRCh38 Chromosome 20, 4699848: 4699848
9 PRNP NM_000311.4(PRNP): c.228C> T (p.Pro76=) single nucleotide variant Benign/Likely benign rs112637437 GRCh38 Chromosome 20, 4699448: 4699448
10 PRNP NM_000311.4(PRNP): c.228C> T (p.Pro76=) single nucleotide variant Benign/Likely benign rs112637437 GRCh37 Chromosome 20, 4680094: 4680094
11 PRNP NM_000311.4(PRNP): c.160G> A (p.Gly54Ser) single nucleotide variant Likely benign rs763524380 GRCh38 Chromosome 20, 4699380: 4699380
12 PRNP NM_000311.4(PRNP): c.160G> A (p.Gly54Ser) single nucleotide variant Likely benign rs763524380 GRCh37 Chromosome 20, 4680026: 4680026
13 PRNP NM_000311.4(PRNP): c.246A> G (p.Gly82=) single nucleotide variant Benign rs62643364 GRCh38 Chromosome 20, 4699466: 4699466
14 PRNP NM_000311.4(PRNP): c.246A> G (p.Gly82=) single nucleotide variant Benign rs62643364 GRCh37 Chromosome 20, 4680112: 4680112
15 PRNP NM_000311.4(PRNP): c.351A> G (p.Ala117=) single nucleotide variant Benign rs8124214 GRCh38 Chromosome 20, 4699571: 4699571
16 PRNP NM_000311.4(PRNP): c.351A> G (p.Ala117=) single nucleotide variant Benign rs8124214 GRCh37 Chromosome 20, 4680217: 4680217
17 PRNP NM_000311.4(PRNP): c.246_269del (p.Pro84_Gln91del) deletion Benign GRCh38 Chromosome 20, 4699466: 4699489
18 PRNP NM_000311.4(PRNP): c.246_269del (p.Pro84_Gln91del) deletion Benign GRCh37 Chromosome 20, 4680112: 4680135

Expression for Huntington Disease-Like 1

Search GEO for disease gene expression data for Huntington Disease-Like 1.

Pathways for Huntington Disease-Like 1

GO Terms for Huntington Disease-Like 1

Sources for Huntington Disease-Like 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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