HDL1
MCID: HNT010
MIFTS: 48

Huntington Disease-Like 1 (HDL1)

Categories: Eye diseases, Genetic diseases, Mental 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
Huntington's Disease-Like 1 12 15
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

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 genetic prion diseases, and has symptoms including ataxia, restlessness and personality changes. An important gene associated with Huntington Disease-Like 1 is PRNP (Prion Protein), and among its related pathways/superpathways are Lipoprotein metabolism and Statin Pathway. Affiliated tissues include eye, brain and cortex, and related phenotypes are nystagmus 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:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 huntington disease-like syndrome 11.2
2 genetic prion diseases 10.1 APOE PRNP
3 huntington disease-like 3 10.1
4 huntington disease-like 2 10.1
5 choreatic disease 10.0 JPH3 TBP
6 spinocerebellar ataxia 17 10.0 JPH3 TBP
7 xanthoma disseminatum 10.0 APOB APOE
8 hypercholesterolemia, autosomal dominant, type b 10.0 APOB APOE
9 aphasia 10.0 APOE PRNP
10 spinocerebellar ataxia 12 10.0 PRNP TBP
11 defective apolipoprotein b-100 10.0 APOB APOE
12 hyperlipoproteinemia, type v 10.0 APOB APOE
13 cerebral amyloid angiopathy, cst3-related 10.0 APOE PRNP
14 schnyder corneal dystrophy 10.0 APOB APOE
15 alzheimer disease 2 10.0 APOE CETP
16 dentatorubral-pallidoluysian atrophy 10.0 JPH3 TBP
17 sea-blue histiocyte disease 10.0 APOB APOE
18 homozygous familial hypercholesterolemia 10.0 APOB APOE
19 ischemic heart disease 10.0 APOB APOE
20 huntington disease 10.0 JPH3 PRNP TBP
21 hypoalphalipoproteinemia, primary 9.9 APOB CETP
22 dementia, lewy body 9.9 APOE PRNP
23 creutzfeldt-jakob disease 9.9 APOE PRNP
24 hyperlipidemia, familial combined 9.9 APOB LPA
25 hypertriglyceridemia, familial 9.8 APOB APOE CETP
26 hyperalphalipoproteinemia 1 9.8 APOB APOE CETP
27 coronary stenosis 9.8 APOB APOE CETP
28 abetalipoproteinemia 9.8 APOB APOE CETP
29 gallbladder disease 9.8 APOB APOE CETP
30 macular degeneration, age-related, 1 9.8 APOB APOE CETP
31 aortic atherosclerosis 9.8 APOE CETP LPA
32 peripheral vascular disease 9.8 APOB LPA
33 lipoprotein glomerulopathy 9.7 APOB APOE LPA
34 leukodystrophy, hypomyelinating, 3 9.7 APOB APOE LPA
35 hypolipoproteinemia 9.7 APOB APOE LPA
36 xanthomatosis 9.7 APOB APOE LPA
37 carotid artery disease 9.7 APOB APOE LPA
38 arteriosclerosis 9.7 APOB APOE LPA
39 hypobetalipoproteinemia, familial, 2 9.7 APOB CETP LPA
40 stroke, ischemic 9.7 APOB APOE LPA
41 coronary artery anomaly 9.7 APOB CETP LPA
42 hyperlipoproteinemia, type iii 9.6 APOB APOE CETP LPA
43 arcus corneae 9.6 APOB APOE CETP LPA
44 lecithin:cholesterol acyltransferase deficiency 9.6 APOB APOE CETP LPA
45 tangier disease 9.6 APOB APOE CETP LPA
46 familial hyperlipidemia 9.6 APOB APOE CETP LPA
47 arteries, anomalies of 9.6 APOB APOE CETP LPA
48 lipid metabolism disorder 9.6 APOB APOE CETP LPA
49 atherosclerosis susceptibility 9.6 APOB APOE CETP LPA
50 coronary heart disease 1 9.5 APOB APOE CETP LPA

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

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

UMLS symptoms related to Huntington Disease-Like 1:


ataxia, restlessness, personality changes, muscle rigidity, grimacing

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.92 APOB APOE CETP LPA

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, Heart, Liver

Publications for Huntington Disease-Like 1

Articles related to Huntington Disease-Like 1:

(show all 11)
# Title Authors Year
1
Catabolism of HDL1 cholesteryl ester in the rat. Effect of ethinyl estradiol treatment. ( 10488433 )
1999
2
Influence of age on hepatic uptake of HDL1-cholesterol in male Wistar rats with bile duct cannulation. ( 7961593 )
1994
3
Role of HDL1 in cholesteryl ester uptake in rats. ( 8496663 )
1993
4
Effect of HDL1 infusion on biliary secretion in perfused rat liver. ( 1290806 )
1992
5
Proteolytic degradation of HDL1 on the fat cell surface is nutritionally regulated. ( 2590527 )
1989
6
Proliferative effect of high density lipoprotein (HDL) and HDL fractions (HDL1,2, HDL3) on virus transformed lymphoblastoid cells. ( 2788459 )
1989
7
Reduction in plasma apolipoprotein E and HDL1 levels in rats with essential fatty acid deficiency. ( 3121811 )
1987
8
In vivo conversion of human HDL3 to HDL2 and apoE-rich HDL1 in the rat: effects of lipid transfer protein. ( 3572251 )
1987
9
Dietary effects on serum lipoproteins of dyslipoproteinemic baboons with high HDL1. ( 3096264 )
1986
10
Isolation of human serum HDL1 by zonal ultracentrifugation. ( 7130858 )
1982
11
Isolation and partial characterization of high-density lipoprotein HDL1 from rat plasma by gradient centrifugation. ( 230819 )
1979

Variations for Huntington Disease-Like 1

ClinVar genetic disease variations for Huntington Disease-Like 1:

6 (show all 24)
# 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.512A> G (p.Asn171Ser) single nucleotide variant Benign rs16990018 GRCh37 Chromosome 20, 4680378: 4680378
10 PRNP NM_000311.4(PRNP): c.512A> G (p.Asn171Ser) single nucleotide variant Benign rs16990018 GRCh38 Chromosome 20, 4699732: 4699732
11 PRNP NM_000311.3(PRNP): c.204_227del24 (p.Pro84_Gln91del) deletion Likely benign rs587778768 GRCh37 Chromosome 20, 4680070: 4680093
12 PRNP NM_000311.3(PRNP): c.204_227del24 (p.Pro84_Gln91del) deletion Likely benign rs587778768 GRCh38 Chromosome 20, 4699424: 4699447
13 PRNP NM_000311.4(PRNP): c.228C> T (p.Pro76=) single nucleotide variant Benign/Likely benign rs112637437 GRCh38 Chromosome 20, 4699448: 4699448
14 PRNP NM_000311.4(PRNP): c.228C> T (p.Pro76=) single nucleotide variant Benign/Likely benign rs112637437 GRCh37 Chromosome 20, 4680094: 4680094
15 PRNP NM_000311.4(PRNP): c.160G> A (p.Gly54Ser) single nucleotide variant Likely benign rs763524380 GRCh38 Chromosome 20, 4699380: 4699380
16 PRNP NM_000311.4(PRNP): c.160G> A (p.Gly54Ser) single nucleotide variant Likely benign rs763524380 GRCh37 Chromosome 20, 4680026: 4680026
17 PRNP NM_000311.4(PRNP): c.246A> G (p.Gly82=) single nucleotide variant Benign rs62643364 GRCh38 Chromosome 20, 4699466: 4699466
18 PRNP NM_000311.4(PRNP): c.246A> G (p.Gly82=) single nucleotide variant Benign rs62643364 GRCh37 Chromosome 20, 4680112: 4680112
19 PRNP NM_000311.4(PRNP): c.351A> G (p.Ala117=) single nucleotide variant Benign rs8124214 GRCh38 Chromosome 20, 4699571: 4699571
20 PRNP NM_000311.4(PRNP): c.351A> G (p.Ala117=) single nucleotide variant Benign rs8124214 GRCh37 Chromosome 20, 4680217: 4680217
21 PRNP NM_000311.4(PRNP): c.246_269del (p.Pro84_Gln91del) deletion Benign GRCh37 Chromosome 20, 4680112: 4680135
22 PRNP NM_000311.4(PRNP): c.246_269del (p.Pro84_Gln91del) deletion Benign GRCh38 Chromosome 20, 4699466: 4699489
23 PRNP NM_000311.4(PRNP): c.462G> A (p.Met154Ile) single nucleotide variant Uncertain significance rs144302267 GRCh37 Chromosome 20, 4680328: 4680328
24 PRNP NM_000311.4(PRNP): c.462G> A (p.Met154Ile) single nucleotide variant Uncertain significance rs144302267 GRCh38 Chromosome 20, 4699682: 4699682

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

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

# Name GO ID Score Top Affiliating Genes
1 clathrin-coated endocytic vesicle membrane GO:0030669 9.4 APOB APOE
2 high-density lipoprotein particle GO:0034364 9.37 APOE CETP
3 very-low-density lipoprotein particle GO:0034361 9.32 APOB APOE
4 endocytic vesicle lumen GO:0071682 9.26 APOB APOE
5 low-density lipoprotein particle GO:0034362 9.16 APOB APOE
6 chylomicron GO:0042627 8.96 APOB APOE
7 intermediate-density lipoprotein particle GO:0034363 8.62 APOB APOE

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.85 APOB APOE CETP LPA
2 steroid metabolic process GO:0008202 9.71 APOB APOE CETP
3 retinoid metabolic process GO:0001523 9.64 APOB APOE
4 lipid homeostasis GO:0055088 9.63 APOE CETP
5 triglyceride metabolic process GO:0006641 9.63 APOE CETP
6 long-term memory GO:0007616 9.62 APOE PRNP
7 triglyceride homeostasis GO:0070328 9.62 APOE CETP
8 cholesterol transport GO:0030301 9.61 APOB CETP
9 triglyceride catabolic process GO:0019433 9.61 APOB APOE
10 cholesterol efflux GO:0033344 9.6 APOB APOE
11 lipoprotein metabolic process GO:0042157 9.59 APOB APOE
12 artery morphogenesis GO:0048844 9.58 APOB APOE
13 regulation of neuronal synaptic plasticity GO:0048168 9.58 APOE JPH3
14 cholesterol homeostasis GO:0042632 9.58 APOB APOE CETP
15 reverse cholesterol transport GO:0043691 9.57 APOE CETP
16 high-density lipoprotein particle remodeling GO:0034375 9.56 APOE CETP
17 cholesterol metabolic process GO:0008203 9.54 APOB APOE CETP
18 chylomicron assembly GO:0034378 9.52 APOB APOE
19 negative regulation of amyloid-beta formation GO:1902430 9.51 APOE PRNP
20 negative regulation of long-term synaptic potentiation GO:1900272 9.49 APOE PRNP
21 very-low-density lipoprotein particle remodeling GO:0034372 9.48 APOE CETP
22 chylomicron remnant clearance GO:0034382 9.46 APOB APOE
23 chylomicron remodeling GO:0034371 9.43 APOB APOE
24 lipoprotein biosynthetic process GO:0042158 9.32 APOB APOE
25 very-low-density lipoprotein particle clearance GO:0034447 9.26 APOB APOE
26 lipid transport GO:0006869 9.26 APOB APOE CETP LPA
27 lipoprotein catabolic process GO:0042159 9.16 APOB APOE
28 low-density lipoprotein particle remodeling GO:0034374 8.92 APOB APOE CETP LPA

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

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.5 APOB APOE CETP
2 amyloid-beta binding GO:0001540 9.4 APOE PRNP
3 cholesterol binding GO:0015485 9.37 APOE CETP
4 heparin binding GO:0008201 9.33 APOB APOE LPA
5 low-density lipoprotein particle receptor binding GO:0050750 9.26 APOB APOE
6 lipid transporter activity GO:0005319 9.13 APOB APOE CETP
7 cholesterol transporter activity GO:0017127 8.8 APOB APOE CETP

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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