HDL1
MCID: HNT010
MIFTS: 46

Huntington Disease-Like 1 (HDL1)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Huntington Disease-Like 1

MalaCards integrated aliases for Huntington Disease-Like 1:

Name: Huntington Disease-Like 1 57 11 58 73 28 12 5 71
Hdl1 57 11 58 73
Early-Onset Prion Disease with Prominent Psychiatric Features 11 58
Huntington-Like Neurodegenerative Disorder 1 57 11
Huntington's Disease-Like 1 11 14
Hln1 57 11
Prion Disease, Early-Onset, with Prominent Psychiatric Features 57
Huntington-Like Neurodegenerative Disorder, Autosomal Dominant 57
Autosomal Dominant Huntington-Like Neurodegenerative Disorder 11
Huntington Disease-Like, Type 1 38

Characteristics:


Inheritance:

Autosomal dominant 58 57

Age Of Onset:

Adult 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
mean age at onset 28 years
prominent psychiatric symptoms


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Huntington Disease-Like 1

Orphanet: 58 A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities.

MalaCards based summary: Huntington Disease-Like 1, also known as hdl1, is related to huntington disease-like 2 and 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), and among its related pathways/superpathways is Prion disease pathway. Affiliated tissues include eye, brain and cortex, and related phenotypes are chorea and dysarthria

Disease Ontology: 11 A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has material basis in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13.

UniProtKB/Swiss-Prot: 73 Autosomal dominant, early-onset neurodegenerative disorder with prominent psychiatric features.

More information 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:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 huntington disease-like 2 29.9 VPS13A TBP JPH3 ATN1
2 huntington disease-like syndrome 11.2
3 mcleod syndrome 10.1 VPS13A JPH3
4 gerstmann-straussler disease 10.1 SLX4IP PRNP
5 hypercholesterolemia, familial, 1 10.1
6 spinocerebellar ataxia 45 10.0 PRNP ATN1
7 neuroacanthocytosis 10.0 VPS13A TBP JPH3
8 choreoacanthocytosis 10.0 VPS13A TBP JPH3
9 holoprosencephaly 5 10.0 JPH3 ATN1
10 movement disease 9.9 VPS13A TBP PRNP
11 thyroid cancer, nonmedullary, 1 9.9
12 abetalipoproteinemia 9.9
13 tangier disease 9.9
14 leukoencephalopathy, hereditary diffuse, with spheroids 1 9.9
15 hypoalphalipoproteinemia, primary, 1 9.9
16 huntington disease-like 3 9.9
17 rapidly involuting congenital hemangioma 9.9
18 familial hypercholesterolemia 9.9
19 hypolipoproteinemia 9.9
20 lipid metabolism disorder 9.9
21 spinocerebellar ataxia 1 9.9 TBP JPH3 ATN1
22 spinocerebellar ataxia 12 9.9 TBP PRNP ATN1
23 spinocerebellar ataxia 6 9.9 TBP ATN1
24 spinocerebellar ataxia 17 9.9 TBP JPH3 ATN1
25 spinocerebellar ataxia 10 9.9 JPH3 ATN1
26 spinal and bulbar muscular atrophy, x-linked 1 9.9 TBP JPH3 ATN1
27 dentatorubral-pallidoluysian atrophy 9.8 TBP PRNP JPH3 ATN1
28 myasthenic syndrome, congenital, 18 9.8 TMX4 SLX4IP PLCB4
29 cerebellar disease 9.8 TBP PRNP JPH3 ATN1
30 familial adult myoclonic epilepsy 9.8 JPH3 ATN1
31 autosomal dominant cerebellar ataxia 9.7 TBP PRNP JPH3 ATN1
32 huntington disease 9.7 VPS13A TBP PRNP JPH3 ATN1
33 choreatic disease 9.1 VPS13A TBP RNF216 PRNP JPH3 FRRS1L

Graphical network of the top 20 diseases related to Huntington Disease-Like 1:



Diseases related to Huntington Disease-Like 1

Symptoms & Phenotypes for Huntington Disease-Like 1

Human phenotypes related to Huntington Disease-Like 1:

58 30 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chorea 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002072
2 dysarthria 58 30 Frequent (33%) Frequent (79-30%)
HP:0001260
3 ventriculomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002119
4 gait ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002066
5 dementia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000726
6 delusions 58 30 Frequent (33%) Frequent (79-30%)
HP:0000746
7 depression 30 Frequent (33%) HP:0000716
8 eeg abnormality 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002353
9 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
10 delayed speech and language development 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000750
11 slurred speech 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001350
12 mask-like facies 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000298
13 cerebral cortical atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002120
14 dysmetria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001310
15 weight loss 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001824
16 memory impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002354
17 cerebellar atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001272
18 hyperactive deep tendon reflexes 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006801
19 generalized hypotonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001290
20 clumsiness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002312
21 frequent falls 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002359
22 poor fine motor coordination 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007010
23 hypokinesia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002375
24 restlessness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000711
25 bradykinesia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002067
26 slow saccadic eye movements 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000514
27 gliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002171
28 jerky ocular pursuit movements 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008003
29 jerky head movements 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006961
30 abnormal posturing 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002533
31 simultanapraxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040201
32 seizure 30 Occasional (7.5%) HP:0001250
33 abnormal shoulder morphology 30 Occasional (7.5%) HP:0003043
34 abnormal basal ganglia morphology 30 Occasional (7.5%) HP:0002134
35 incoordination 58 30 Occasional (29-5%)
HP:0002311
36 seizures 58 Occasional (29-5%)
37 abnormality of eye movement 58 Occasional (29-5%)
38 depressivity 58 Frequent (79-30%)
39 gait disturbance 58 Frequent (79-30%)
40 behavioral abnormality 58 Frequent (79-30%)
41 cognitive impairment 58 Frequent (79-30%)
42 anxiety 30 HP:0000739
43 involuntary movements 58 Frequent (79-30%)
44 abnormality of the shoulder 58 Occasional (29-5%)
45 rigidity 30 HP:0002063
46 aggressive behavior 30 HP:0000718
47 unsteady gait 30 HP:0002317
48 abnormality of higher mental function 58 Occasional (29-5%)
49 personality changes 30 HP:0000751
50 abnormality of the basal ganglia 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neurologic Central Nervous System:
ataxia
dysarthria
chorea
dysmetria
rigidity
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
personality changes
restlessness
delusions
depression
more

Clinical features from OMIM®:

603218 (Updated 24-Oct-2022)

UMLS symptoms related to Huntington Disease-Like 1:


ataxia; muscle rigidity; grimacing; personality changes; restlessness

MGI Mouse Phenotypes related to Huntington Disease-Like 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.61 ATN1 DLL1 FRRS1L JPH3 PLCB4 PRNP
2 behavior/neurological MP:0005386 9.32 ATN1 DLL1 FRRS1L JPH3 PLCB4 PRNP

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 28 PRNP

Anatomical Context for Huntington Disease-Like 1

Organs/tissues related to Huntington Disease-Like 1:

MalaCards : Eye, Brain, Cortex, Liver, Adipocyte, Smooth Muscle, Spleen

Publications for Huntington Disease-Like 1

Articles related to Huntington Disease-Like 1:

(show top 50) (show all 266)
# Title Authors PMID Year
1
Huntington disease phenocopy is a familial prion disease. 57 5
11593450 2001
2
Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. 57 5
1683708 1991
3
Biochemical features of genetic Creutzfeldt-Jakob disease with valine-to-isoleucine substitution at codon 180 on the prion protein gene. 5
29382530 2018
4
Towards authentic transgenic mouse models of heritable PrP prion diseases. 5
27350609 2016
5
Quantifying prion disease penetrance using large population control cohorts. 5
26791950 2016
6
A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset. 5
27803826 2016
7
PrP charge structure encodes interdomain interactions. 5
26323476 2015
8
Structural effects of multiple pathogenic mutations suggest a model for the initiation of misfolding of the prion protein. 5
25959220 2015
9
Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD. 5
25522698 2015
10
The Features of Genetic Prion Diseases Based on Chinese Surveillance Program. 5
26488179 2015
11
A pilot study of a genetic CJD risk factor (E200K) in the general Slovak population. 5
25064618 2014
12
Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease. 5
25482600 2014
13
Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases. 5
23555862 2013
14
In silico analysis of prion protein mutants: a comparative study by molecular dynamics approach. 5
23723004 2013
15
Teaching neuroimages: Pseudohypertrophic cerebral cortex in end-stage Creutzfeldt-Jakob disease. 5
23296137 2013
16
Familial Creutzfeldt-Jakob disease with a mutation at codon 180 presenting with an atypical phenotype. 5
22999564 2013
17
Glycoform-selective prion formation in sporadic and familial forms of prion disease. 5
23527023 2013
18
Codon 200 mutation of the prion gene: genotype-phenotype correlations. 5
22584955 2012
19
Disease-associated mutations in the prion protein impair laminin-induced process outgrowth and survival. 5
23132868 2012
20
Intraneuronal immunoreactivity for the prion protein distinguishes a subset of E200K genetic from sporadic Creutzfeldt-Jakob Disease. 5
22318125 2012
21
De novo P102L mutation in a patient with Gerstmann-Sträussler-Scheinker disease. 5
22097954 2011
22
Fatal prion disease in a mouse model of genetic E200K Creutzfeldt-Jakob disease. 5
22072968 2011
23
An autopsied case of V180I Creutzfeldt-Jakob disease presenting with panencephalopathic-type pathology and a characteristic prion protein type. 5
21269331 2011
24
Familial CJD associated PrP mutants within transmembrane region induced Ctm-PrP retention in ER and triggered apoptosis by ER stress in SH-SY5Y cells. 5
21298055 2011
25
Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy. 5
20593190 2011
26
The unfolded state of the murine prion protein and properties of single-point mutants related to human prion diseases. 5
20541558 2010
27
The first Chinese case of Creutzfeldt-Jakob disease with mutation of E200K in PRNP. 5
20514992 2010
28
Transmissible spongiform encephalopathies with P102L mutation of PRNP manifesting different phenotypes: clinical, neuroimaging, and electrophysiological studies in Chinese kindred in Taiwan. 5
19696976 2010
29
Fragment molecular orbital calculations reveal that the E200K mutation markedly alters local structural stability in the human prion protein. 5
20139714 2010
30
Discordant clinicopathologic phenotypes in a Japanese kindred of fatal familial insomnia. 5
20038778 2010
31
Loss of anti-Bax function in Gerstmann-Sträussler-Scheinker syndrome-associated prion protein mutants. 5
19680558 2009
32
Defective retrotranslocation causes loss of anti-Bax function in human familial prion protein mutants. 5
17494694 2007
33
[Fatal familiar insomnia: clinical, neurophysiological and histopathological study of two cases]. 5
17013786 2006
34
Early intermediate in human prion protein folding as evidenced by ultrarapid mixing experiments. 5
16939293 2006
35
Familial Creutzfeldt-Jakob disease with an R208H-129V haplotype and Kuru plaques. 5
16533975 2006
36
Creutzfeldt-Jakob disease (CJD) with a mutation at codon 148 of prion protein gene: relationship with sporadic CJD. 5
16314483 2005
37
Polymorphism at residue 129 modulates the conformational conversion of the D178N variant of human prion protein 90-231. 5
16313190 2005
38
Phenotypic variability in familial prion diseases due to the D178N mutation. 5
16227536 2005
39
Gerstmann-Sträussler-Scheinker disease with the Q217R mutation mimicking frontotemporal dementia. 5
16025285 2005
40
Creutzfeldt-Jakob disease associated with an R148H mutation of the prion protein gene. 5
15776279 2005
41
Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment. 5
15739100 2005
42
Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene. 5
15753435 2005
43
Creutzfeldt-Jakob disease with a novel insertion and codon 219 Lys/Lys polymorphism in PRNP. 5
15557533 2004
44
The effect of disease-associated mutations on the folding pathway of human prion protein. 5
14761942 2004
45
When sporadic disease is not sporadic: the potential for genetic etiology. 5
14967768 2004
46
[Creutzfeldt-Jakob encephalopathy with mutation E200K. Report of a "sporadic" case]. 5
15366237 2004
47
Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene. 5
14610142 2003
48
Novel prion protein insert mutation associated with prolonged neurodegenerative illness. 5
12771252 2003
49
Disease-associated F198S mutation increases the propensity of the recombinant prion protein for conformational conversion to scrapie-like form. 5
12372829 2002
50
Insomnia associated with thalamic involvement in E200K Creutzfeldt-Jakob disease. 5
11839833 2002

Variations for Huntington Disease-Like 1

ClinVar genetic disease variations for Huntington Disease-Like 1:

5 (show top 50) (show all 59)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRNP NM_000311.5(PRNP):c.154_177[(6_13)] MICROSAT Pathogenic
Uncertain Significance
Likely Benign
13394 rs193922906 GRCh37: 20:4680026-4680049
GRCh38: 20:4699379-4699380
2 PRNP NM_000311.5(PRNP):c.593T>C (p.Phe198Ser) SNV Pathogenic
13401 rs74315405 GRCh37: 20:4680459-4680459
GRCh38: 20:4699813-4699813
3 PRNP NM_000311.5(PRNP):c.598G>A (p.Glu200Lys) SNV Pathogenic
13398 rs28933385 GRCh37: 20:4680464-4680464
GRCh38: 20:4699818-4699818
4 PRNP NM_000311.5(PRNP):c.628G>A (p.Val210Ile) SNV Pathogenic
13403 rs74315407 GRCh37: 20:4680494-4680494
GRCh38: 20:4699848-4699848
5 PRNP NM_000311.5(PRNP):c.305C>T (p.Pro102Leu) SNV Pathogenic
13395 rs74315401 GRCh37: 20:4680171-4680171
GRCh38: 20:4699525-4699525
6 PRNP NM_000311.5(PRNP):c.538G>A (p.Val180Ile) SNV Pathogenic
13405 rs74315408 GRCh37: 20:4680404-4680404
GRCh38: 20:4699758-4699758
7 PRNP NM_000311.5(PRNP):c.532G>A (p.Asp178Asn) SNV Pathogenic
39359 rs74315403 GRCh37: 20:4680398-4680398
GRCh38: 20:4699752-4699752
8 PRNP NM_000311.5(PRNP):c.443G>A (p.Arg148His) SNV Likely Pathogenic
1507942 GRCh37: 20:4680309-4680309
GRCh38: 20:4699663-4699663
9 PRNP NM_000311.5(PRNP):c.650A>G (p.Gln217Arg) SNV Likely Pathogenic
13402 rs74315406 GRCh37: 20:4680516-4680516
GRCh38: 20:4699870-4699870
10 PRNP NM_000311.5(PRNP):c.623G>A (p.Arg208His) SNV Likely Pathogenic
13411 rs74315412 GRCh37: 20:4680489-4680489
GRCh38: 20:4699843-4699843
11 PRNP NM_000311.5(PRNP):c.633G>C (p.Glu211Asp) SNV Uncertain Significance
88922 rs398122413 GRCh37: 20:4680499-4680499
GRCh38: 20:4699853-4699853
12 PRNP NM_000311.5(PRNP):c.5C>T (p.Ala2Val) SNV Uncertain Significance
899176 rs748227837 GRCh37: 20:4679871-4679871
GRCh38: 20:4699225-4699225
13 PRNP NM_000311.5(PRNP):c.625G>A (p.Val209Met) SNV Uncertain Significance
1409171 GRCh37: 20:4680491-4680491
GRCh38: 20:4699845-4699845
14 PRNP NM_000311.5(PRNP):c.622C>T (p.Arg208Cys) SNV Uncertain Significance
1409869 GRCh37: 20:4680488-4680488
GRCh38: 20:4699842-4699842
15 PRNP NM_000311.5(PRNP):c.498G>A (p.Met166Ile) SNV Uncertain Significance
1468083 GRCh37: 20:4680364-4680364
GRCh38: 20:4699718-4699718
16 PRNP NM_000311.5(PRNP):c.755T>C (p.Val252Ala) SNV Uncertain Significance
1474931 GRCh37: 20:4680621-4680621
GRCh38: 20:4699975-4699975
17 PRNP NM_000311.5(PRNP):c.407G>C (p.Arg136Thr) SNV Uncertain Significance
1510828 GRCh37: 20:4680273-4680273
GRCh38: 20:4699627-4699627
18 PRNP NM_000311.5(PRNP):c.493C>T (p.Pro165Ser) SNV Uncertain Significance
1496978 GRCh37: 20:4680359-4680359
GRCh38: 20:4699713-4699713
19 PRNP NM_000311.5(PRNP):c.408G>T (p.Arg136Ser) SNV Uncertain Significance
1503725 GRCh37: 20:4680274-4680274
GRCh38: 20:4699628-4699628
20 PRNP NM_000311.5(PRNP):c.635A>C (p.Gln212Pro) SNV Uncertain Significance
1326274 GRCh37: 20:4680501-4680501
GRCh38: 20:4699855-4699855
21 PRNP NM_000311.5(PRNP):c.695T>G (p.Met232Arg) SNV Uncertain Significance
13406 rs74315409 GRCh37: 20:4680561-4680561
GRCh38: 20:4699915-4699915
22 PRNP NM_000311.5(PRNP):c.290G>A (p.Ser97Asn) SNV Uncertain Significance
1005336 rs56362942 GRCh37: 20:4680156-4680156
GRCh38: 20:4699510-4699510
23 PRNP NM_000311.5(PRNP):c.392G>T (p.Gly131Val) SNV Uncertain Significance
13410 rs74315410 GRCh37: 20:4680258-4680258
GRCh38: 20:4699612-4699612
24 PRNP NM_000311.5(PRNP):c.116C>T (p.Pro39Leu) SNV Uncertain Significance
899178 rs747019990 GRCh37: 20:4679982-4679982
GRCh38: 20:4699336-4699336
25 PRNP NM_000311.5(PRNP):c.452G>T (p.Arg151Leu) SNV Uncertain Significance
1398824 GRCh37: 20:4680318-4680318
GRCh38: 20:4699672-4699672
26 PRNP NM_000311.5(PRNP):c.620A>G (p.Glu207Gly) SNV Uncertain Significance
1422522 GRCh37: 20:4680486-4680486
GRCh38: 20:4699840-4699840
27 PRNP NM_000311.5(PRNP):c.86G>A (p.Gly29Glu) SNV Uncertain Significance
1495663 GRCh37: 20:4679952-4679952
GRCh38: 20:4699306-4699306
28 PRNP NM_000311.5(PRNP):c.222_245del (p.60PHGGGWGQ[3]) DEL Uncertain Significance
1496345 GRCh37: 20:4680071-4680094
GRCh38: 20:4699425-4699448
29 PRNP NM_000311.5(PRNP):c.462G>A (p.Met154Ile) SNV Uncertain Significance
569467 rs144302267 GRCh37: 20:4680328-4680328
GRCh38: 20:4699682-4699682
30 PRNP NM_000311.5(PRNP):c.228C>T (p.Pro76=) SNV Likely Benign
218578 rs112637437 GRCh37: 20:4680094-4680094
GRCh38: 20:4699448-4699448
31 PRNP NM_000311.5(PRNP):c.519C>T (p.Asn173=) SNV Likely Benign
767236 rs149726579 GRCh37: 20:4680385-4680385
GRCh38: 20:4699739-4699739
32 PRNP NM_000311.5(PRNP):c.159C>T (p.Gly53=) SNV Likely Benign
338645 rs776188950 GRCh37: 20:4680025-4680025
GRCh38: 20:4699379-4699379
33 PRNP NM_000311.5(PRNP):c.624C>T (p.Arg208=) SNV Likely Benign
705058 rs539013899 GRCh37: 20:4680490-4680490
GRCh38: 20:4699844-4699844
34 PRNP NM_000311.5(PRNP):c.606C>T (p.Asp202=) SNV Likely Benign
871373 rs371948269 GRCh37: 20:4680472-4680472
GRCh38: 20:4699826-4699826
35 PRNP NM_000311.5(PRNP):c.654C>T (p.Tyr218=) SNV Likely Benign
896505 rs375057882 GRCh37: 20:4680520-4680520
GRCh38: 20:4699874-4699874
36 PRNP NM_000311.5(PRNP):c.228_251del (p.60PHGGGWGQ[3]) DEL Likely Benign
1617003 GRCh37: 20:4680089-4680112
GRCh38: 20:4699443-4699466
37 PRNP NM_000311.5(PRNP):c.636G>A (p.Gln212=) SNV Likely Benign
1576397 GRCh37: 20:4680502-4680502
GRCh38: 20:4699856-4699856
38 PRNP NM_000311.5(PRNP):c.507C>T (p.Tyr169=) SNV Likely Benign
1576403 GRCh37: 20:4680373-4680373
GRCh38: 20:4699727-4699727
39 PRNP NM_000311.5(PRNP):c.603C>T (p.Thr201=) SNV Likely Benign
1531275 GRCh37: 20:4680469-4680469
GRCh38: 20:4699823-4699823
40 PRNP NM_000311.5(PRNP):c.408G>A (p.Arg136=) SNV Likely Benign
1596929 GRCh37: 20:4680274-4680274
GRCh38: 20:4699628-4699628
41 PRNP NM_000311.5(PRNP):c.57G>A (p.Leu19=) SNV Likely Benign
1606105 GRCh37: 20:4679923-4679923
GRCh38: 20:4699277-4699277
42 PRNP NM_000311.5(PRNP):c.225G>A (p.Gln75=) SNV Likely Benign
1607151 GRCh37: 20:4680091-4680091
GRCh38: 20:4699445-4699445
43 PRNP NM_000311.5(PRNP):c.333C>T (p.His111=) SNV Likely Benign
1539263 GRCh37: 20:4680199-4680199
GRCh38: 20:4699553-4699553
44 PRNP NM_000311.5(PRNP):c.117G>A (p.Pro39=) SNV Likely Benign
1556415 GRCh37: 20:4679983-4679983
GRCh38: 20:4699337-4699337
45 PRNP NM_000311.5(PRNP):c.384_385inv (p.Met129Val) INVERS Likely Benign
1562637 GRCh37: 20:4680250-4680251
GRCh38: 20:4699604-4699605
46 PRNP NM_000311.5(PRNP):c.531C>T (p.His177=) SNV Likely Benign
1570377 GRCh37: 20:4680397-4680397
GRCh38: 20:4699751-4699751
47 PRNP NM_000311.5(PRNP):c.537C>T (p.Cys179=) SNV Likely Benign
1571531 GRCh37: 20:4680403-4680403
GRCh38: 20:4699757-4699757
48 PRNP NM_000311.5(PRNP):c.591C>T (p.Asn197=) SNV Likely Benign
1571960 GRCh37: 20:4680457-4680457
GRCh38: 20:4699811-4699811
49 PRNP NM_000311.5(PRNP):c.160G>A (p.Gly54Ser) SNV Likely Benign
338646 rs763524380 GRCh37: 20:4680026-4680026
GRCh38: 20:4699380-4699380
50 PRNP NM_000311.5(PRNP):c.246_269del (p.60_67PHGGGWGQ[3]) DEL Benign/Likely Benign
536237 rs138688873 GRCh37: 20:4680095-4680118
GRCh38: 20:4699449-4699472

Expression for Huntington Disease-Like 1

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

Pathways for Huntington Disease-Like 1

Pathways related to Huntington Disease-Like 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.13 TBP PRNP

GO Terms for Huntington Disease-Like 1

Biological processes related to Huntington Disease-Like 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of glutamate receptor signaling pathway GO:1900449 8.92 PRNP FRRS1L

Sources for Huntington Disease-Like 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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