ADSD1
MCID: STR101
MIFTS: 32

Striatal Degeneration, Autosomal Dominant 1 (ADSD1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Striatal Degeneration, Autosomal Dominant 1

MalaCards integrated aliases for Striatal Degeneration, Autosomal Dominant 1:

Name: Striatal Degeneration, Autosomal Dominant 1 57 72 29 6
Striatal Degeneration, Autosomal Dominant 57 13 39 70
Autosomal Dominant Striatal Neurodegeneration 58 29
Adsd1 57 72
Autosomal Dominant Striatal Degeneration 36
Adsd 58

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant striatal neurodegeneration
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset 30-40 years of age
no response to l-dopa treatment
distinct disorder from parkinson disease


HPO:

31
striatal degeneration, autosomal dominant 1:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 609161
OMIM Phenotypic Series 57 PS609161
KEGG 36 H01570
MeSH 44 D001480
UMLS via Orphanet 71 C1836694
Orphanet 58 ORPHA228169
UMLS 70 C1836694

Summaries for Striatal Degeneration, Autosomal Dominant 1

KEGG : 36 Autosomal-dominant striatal degeneration (ADSD) is a rare autosomal-dominant movement disorder affecting the striatal part of the basal ganglia, with onset in the fourth to fifth decade. The main clinical features are mild, slowly progressive dysarthria and hypokinesia without any apparent reduction in life expectancy. Brain MRI shows distinctive lesions of the putamen and caudate nucleus appearing earlier than the onset of symptoms. Causal gene mutations are discovered in the cyclic nucleotide phosphodiesterase (PDE) genes.

MalaCards based summary : Striatal Degeneration, Autosomal Dominant 1, also known as striatal degeneration, autosomal dominant, is related to striatal degeneration, autosomal dominant 2 and parkinsonism. An important gene associated with Striatal Degeneration, Autosomal Dominant 1 is PDE8B (Phosphodiesterase 8B), and among its related pathways/superpathways is Purine metabolism. Affiliated tissues include caudate nucleus, and related phenotypes are dysarthria and dysdiadochokinesis

OMIM® : 57 Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia (summary by Kuhlenbaumer et al., 2004). (609161) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Striatal degeneration, autosomal dominant 1: A movement disorder affecting the striatal part of the basal ganglia and characterized by bradykinesia, dysarthria and muscle rigidity. These symptoms resemble idiopathic Parkinson disease, but tremor is not present.

Related Diseases for Striatal Degeneration, Autosomal Dominant 1

Diseases in the Striatal Degeneration, Autosomal Dominant 2 family:

Striatal Degeneration, Autosomal Dominant 1

Diseases related to Striatal Degeneration, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 striatal degeneration, autosomal dominant 2 11.0
2 parkinsonism 10.2
3 tremor 10.2
4 spasmodic dysphonia 10.2
5 parkinson disease, late-onset 10.1
6 ataxia and polyneuropathy, adult-onset 10.1
7 movement disease 10.1
8 basal ganglia disease 9.9

Graphical network of the top 20 diseases related to Striatal Degeneration, Autosomal Dominant 1:



Diseases related to Striatal Degeneration, Autosomal Dominant 1

Symptoms & Phenotypes for Striatal Degeneration, Autosomal Dominant 1

Human phenotypes related to Striatal Degeneration, Autosomal Dominant 1:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
2 dysdiadochokinesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002075
3 rigidity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002063
4 bradykinesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002067
5 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
6 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
7 abnormality of movement 58 Very frequent (99-80%)
8 degeneration of the striatum 31 HP:0040140
9 hypokinesia 31 HP:0002375
10 lower limb hyperreflexia 31 HP:0002395
11 symmetric lesions of the basal ganglia 31 HP:0007039

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
rigidity
hypokinesia
bradykinesia
dysdiadochokinesia
gait difficulties
more

Clinical features from OMIM®:

609161 (Updated 05-Apr-2021)

Drugs & Therapeutics for Striatal Degeneration, Autosomal Dominant 1

Search Clinical Trials , NIH Clinical Center for Striatal Degeneration, Autosomal Dominant 1

Genetic Tests for Striatal Degeneration, Autosomal Dominant 1

Genetic tests related to Striatal Degeneration, Autosomal Dominant 1:

# Genetic test Affiliating Genes
1 Striatal Degeneration, Autosomal Dominant 1 29 PDE8B
2 Autosomal Dominant Striatal Neurodegeneration 29

Anatomical Context for Striatal Degeneration, Autosomal Dominant 1

MalaCards organs/tissues related to Striatal Degeneration, Autosomal Dominant 1:

40
Caudate Nucleus

Publications for Striatal Degeneration, Autosomal Dominant 1

Articles related to Striatal Degeneration, Autosomal Dominant 1:

# Title Authors PMID Year
1
A novel mutation of PDE8B Gene in a Japanese family with autosomal-dominant striatal degeneration. 6 57 61
26769607 2015
2
Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. 6 61 57
20085714 2010
3
Familial striatal degeneration: New mutation and neuroimaging clues. 6 57
26475694 2015
4
Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14. 61 57
15210883 2004
5
Clinical findings of autosomal-dominant striatal degeneration and PDE8B mutation screening in parkinsonism and related disorders. 61
31726290 2019
6
PDE8B mutation is not associated with Parkinson's disease in a Taiwanese population. 61
29909144 2018
7
Phosphodiesterases in neurodegenerative disorders. 61
23129425 2012

Variations for Striatal Degeneration, Autosomal Dominant 1

ClinVar genetic disease variations for Striatal Degeneration, Autosomal Dominant 1:

6 (show top 50) (show all 97)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDE8B PDE8B, 94G-C AND 1-BP DEL, 95T Deletion Pathogenic 6391 GRCh37:
GRCh38:
2 PDE8B NM_001349750.2(PDE8B):c.36+30743G>T SNV Pathogenic 235863 rs878853158 GRCh37: 5:76507054-76507054
GRCh38: 5:77211229-77211229
3 PDE8B NM_001349750.2(PDE8B):c.36+30518del Deletion Pathogenic 235862 rs878853157 GRCh37: 5:76506826-76506826
GRCh38: 5:77211001-77211001
4 WDR41 , PDE8B NM_003719.4(PDE8B):c.*287C>T SNV Uncertain significance 354182 rs886060762 GRCh37: 5:76722666-76722666
GRCh38: 5:77426841-77426841
5 PDE8B NM_003719.4(PDE8B):c.2115C>T (p.Phe705=) SNV Uncertain significance 354167 rs886060758 GRCh37: 5:76714257-76714257
GRCh38: 5:77418432-77418432
6 PDE8B NM_003719.4(PDE8B):c.156C>T (p.Ala52=) SNV Uncertain significance 354147 rs886060755 GRCh37: 5:76506906-76506906
GRCh38: 5:77211081-77211081
7 PDE8B NM_003719.4(PDE8B):c.52C>A (p.Arg18=) SNV Uncertain significance 354144 rs886060753 GRCh37: 5:76506802-76506802
GRCh38: 5:77210977-77210977
8 WDR41 , PDE8B NM_003719.4(PDE8B):c.*1011A>G SNV Uncertain significance 354205 rs560626172 GRCh37: 5:76723390-76723390
GRCh38: 5:77427565-77427565
9 PDE8B NM_003719.4(PDE8B):c.999A>G (p.Thr333=) SNV Uncertain significance 354156 rs886060757 GRCh37: 5:76645366-76645366
GRCh38: 5:77349541-77349541
10 WDR41 , PDE8B NM_003719.4(PDE8B):c.*1606T>C SNV Uncertain significance 354211 rs565137946 GRCh37: 5:76723985-76723985
GRCh38: 5:77428160-77428160
11 PDE8B NM_003719.4(PDE8B):c.*28C>G SNV Uncertain significance 354176 rs886060760 GRCh37: 5:76722407-76722407
GRCh38: 5:77426582-77426582
12 PDE8B NM_003719.4(PDE8B):c.-24C>T SNV Uncertain significance 354142 rs760305316 GRCh37: 5:76506727-76506727
GRCh38: 5:77210902-77210902
13 WDR41 , PDE8B NM_003719.4(PDE8B):c.*921A>G SNV Uncertain significance 354203 rs867519671 GRCh37: 5:76723300-76723300
GRCh38: 5:77427475-77427475
14 PDE8B NM_003719.4(PDE8B):c.280A>G (p.Arg94Gly) SNV Uncertain significance 354148 rs886060756 GRCh37: 5:76507030-76507030
GRCh38: 5:77211205-77211205
15 WDR41 , PDE8B NM_003719.4(PDE8B):c.*1520T>C SNV Uncertain significance 354209 rs558413983 GRCh37: 5:76723899-76723899
GRCh38: 5:77428074-77428074
16 PDE8B NM_003719.4(PDE8B):c.2545G>A (p.Asp849Asn) SNV Uncertain significance 354174 rs886060759 GRCh37: 5:76721718-76721718
GRCh38: 5:77425893-77425893
17 WDR41 , PDE8B NM_003719.4(PDE8B):c.*436C>T SNV Uncertain significance 354184 rs144907726 GRCh37: 5:76722815-76722815
GRCh38: 5:77426990-77426990
18 WDR41 , PDE8B NM_003719.4(PDE8B):c.*179G>A SNV Uncertain significance 354181 rs886060761 GRCh37: 5:76722558-76722558
GRCh38: 5:77426733-77426733
19 WDR41 , PDE8B NM_003719.4(PDE8B):c.*1150A>G SNV Uncertain significance 354207 rs867337066 GRCh37: 5:76723529-76723529
GRCh38: 5:77427704-77427704
20 PDE8B NM_003719.4(PDE8B):c.125G>C (p.Gly42Ala) SNV Uncertain significance 354146 rs886060754 GRCh37: 5:76506875-76506875
GRCh38: 5:77211050-77211050
21 WDR41 , PDE8B NM_003719.4(PDE8B):c.*831T>C SNV Uncertain significance 354197 rs538996177 GRCh37: 5:76723210-76723210
GRCh38: 5:77427385-77427385
22 PDE8B NM_003719.5(PDE8B):c.1001G>A (p.Cys334Tyr) SNV Uncertain significance 903931 GRCh37: 5:76645368-76645368
GRCh38: 5:77349543-77349543
23 PDE8B NM_003719.5(PDE8B):c.1207A>G (p.Thr403Ala) SNV Uncertain significance 903933 GRCh37: 5:76696112-76696112
GRCh38: 5:77400287-77400287
24 PDE8B NM_003719.5(PDE8B):c.1211A>T (p.Glu404Val) SNV Uncertain significance 903934 GRCh37: 5:76700545-76700545
GRCh38: 5:77404720-77404720
25 WDR41 , PDE8B NM_003719.5(PDE8B):c.*1204C>T SNV Uncertain significance 904061 GRCh37: 5:76723583-76723583
GRCh38: 5:77427758-77427758
26 WDR41 , PDE8B NM_003719.5(PDE8B):c.*1254T>G SNV Uncertain significance 904062 GRCh37: 5:76723633-76723633
GRCh38: 5:77427808-77427808
27 PDE8B NM_003719.5(PDE8B):c.-44C>T SNV Uncertain significance 905760 GRCh37: 5:76506707-76506707
GRCh38: 5:77210882-77210882
28 PDE8B NM_003719.5(PDE8B):c.1447C>T (p.Arg483Trp) SNV Uncertain significance 905820 GRCh37: 5:76704799-76704799
GRCh38: 5:77408974-77408974
29 PDE8B NM_003719.5(PDE8B):c.1461G>A (p.Leu487=) SNV Uncertain significance 905821 GRCh37: 5:76704813-76704813
GRCh38: 5:77408988-77408988
30 WDR41 , PDE8B NM_003719.5(PDE8B):c.*445G>A SNV Uncertain significance 905878 GRCh37: 5:76722824-76722824
GRCh38: 5:77426999-77426999
31 PDE8B NM_003719.5(PDE8B):c.-19G>T SNV Uncertain significance 906272 GRCh37: 5:76506732-76506732
GRCh38: 5:77210907-77210907
32 PDE8B NM_003719.5(PDE8B):c.1831T>G (p.Ser611Ala) SNV Uncertain significance 906328 GRCh37: 5:76709054-76709054
GRCh38: 5:77413229-77413229
33 WDR41 , PDE8B NM_003719.5(PDE8B):c.*498C>A SNV Uncertain significance 906394 GRCh37: 5:76722877-76722877
GRCh38: 5:77427052-77427052
34 PDE8B NM_003719.5(PDE8B):c.570C>T (p.Phe190=) SNV Uncertain significance 907271 GRCh37: 5:76621534-76621534
GRCh38: 5:77325709-77325709
35 WDR41 , PDE8B NM_003719.5(PDE8B):c.*1304G>T SNV Uncertain significance 904064 GRCh37: 5:76723683-76723683
GRCh38: 5:77427858-77427858
36 PDE8B NM_003719.5(PDE8B):c.2139T>C (p.Tyr713=) SNV Uncertain significance 907334 GRCh37: 5:76715601-76715601
GRCh38: 5:77419776-77419776
37 WDR41 , PDE8B NM_003719.5(PDE8B):c.*865G>A SNV Uncertain significance 907397 GRCh37: 5:76723244-76723244
GRCh38: 5:77427419-77427419
38 WDR41 , PDE8B NM_003719.5(PDE8B):c.*1050T>C SNV Uncertain significance 907398 GRCh37: 5:76723429-76723429
GRCh38: 5:77427604-77427604
39 WDR41 , PDE8B NM_003719.5(PDE8B):c.*1139A>G SNV Uncertain significance 907399 GRCh37: 5:76723518-76723518
GRCh38: 5:77427693-77427693
40 KCNQ1 NM_000218.3(KCNQ1):c.1667_1679del (p.Ile556fs) Deletion Uncertain significance 976086 GRCh37: 11:2797263-2797275
GRCh38: 11:2776033-2776045
41 PDE8B NM_003719.5(PDE8B):c.211C>T (p.Arg71Cys) SNV Uncertain significance 976373 GRCh37: 5:76506961-76506961
GRCh38: 5:77211136-77211136
42 PDE8B NM_003719.5(PDE8B):c.2649dup (p.Asp884Ter) Duplication Uncertain significance 930740 GRCh37: 5:76722369-76722370
GRCh38: 5:77426544-77426545
43 PDE8B NM_003719.5(PDE8B):c.1576+4A>G SNV Uncertain significance 931038 GRCh37: 5:76707550-76707550
GRCh38: 5:77411725-77411725
44 PDE8B NM_003719.5(PDE8B):c.878A>G (p.Tyr293Cys) SNV Uncertain significance 931113 GRCh37: 5:76645245-76645245
GRCh38: 5:77349420-77349420
45 PDE8B NM_003719.5(PDE8B):c.1031T>G (p.Val344Gly) SNV Likely benign 802122 rs767230883 GRCh37: 5:76646903-76646903
GRCh38: 5:77351078-77351078
46 PDE8B NM_003719.5(PDE8B):c.876+15C>T SNV Likely benign 903930 GRCh37: 5:76640771-76640771
GRCh38: 5:77344946-77344946
47 PDE8B NM_003719.5(PDE8B):c.796C>T (p.Arg266Trp) SNV Likely benign 907273 GRCh37: 5:76633139-76633139
GRCh38: 5:77337314-77337314
48 WDR41 , PDE8B NM_003719.5(PDE8B):c.*1265G>A SNV Likely benign 904063 GRCh37: 5:76723644-76723644
GRCh38: 5:77427819-77427819
49 PDE8B NM_003719.5(PDE8B):c.*30G>A SNV Likely benign 903999 GRCh37: 5:76722409-76722409
GRCh38: 5:77426584-77426584
50 PDE8B NM_003719.5(PDE8B):c.1107-6T>A SNV Likely benign 903932 GRCh37: 5:76649165-76649165
GRCh38: 5:77353340-77353340

Expression for Striatal Degeneration, Autosomal Dominant 1

Search GEO for disease gene expression data for Striatal Degeneration, Autosomal Dominant 1.

Pathways for Striatal Degeneration, Autosomal Dominant 1

Pathways related to Striatal Degeneration, Autosomal Dominant 1 according to KEGG:

36
# Name Kegg Source Accession
1 Purine metabolism hsa00230

GO Terms for Striatal Degeneration, Autosomal Dominant 1

Sources for Striatal Degeneration, Autosomal Dominant 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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