MCID: STR101
MIFTS: 22

Striatal Degeneration, Autosomal Dominant 1

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 75 29 6
Striatal Degeneration, Autosomal Dominant 57 13 40 73
Adsd1 57 75
Autosomal Dominant Striatal Neurodegeneration 59
Autosomal Dominant Striatal Degeneration 37
Adsd 59

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant striatal neurodegeneration
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
striatal degeneration, autosomal dominant 1:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 609161
Orphanet 59 ORPHA228169
UMLS via Orphanet 74 C1836694
MeSH 44 D001480
KEGG 37 H01570
UMLS 73 C1836694

Summaries for Striatal Degeneration, Autosomal Dominant 1

UniProtKB/Swiss-Prot : 75 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.

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

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)

Related Diseases for Striatal Degeneration, Autosomal Dominant 1

Diseases in the Striatal Degeneration, Autosomal Dominant 1 family:

Striatal Degeneration, Autosomal Dominant 2

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

Symptoms & Phenotypes for Striatal Degeneration, Autosomal Dominant 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
rigidity
bradykinesia
hypokinesia
dysdiadochokinesia
gait difficulties
more

Clinical features from OMIM:

609161

Human phenotypes related to Striatal Degeneration, Autosomal Dominant 1:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
2 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
3 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
4 rigidity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002063
5 bradykinesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002067
6 dysdiadochokinesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002075
7 abnormality of movement 59 Very frequent (99-80%)
8 hypokinesia 32 HP:0002375
9 lower limb hyperreflexia 32 HP:0002395
10 symmetric lesions of the basal ganglia 32 HP:0007039
11 degeneration of the striatum 32 HP:0040140

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

Anatomical Context for Striatal Degeneration, Autosomal Dominant 1

Publications for Striatal Degeneration, Autosomal Dominant 1

Articles related to Striatal Degeneration, Autosomal Dominant 1:

# Title Authors Year
1
A novel mutation of PDE8B Gene in a Japanese family with autosomal-dominant striatal degeneration. ( 26769607 )
2015
2
Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. ( 20085714 )
2010
3
Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14. ( 15210883 )
2004

Variations for Striatal Degeneration, Autosomal Dominant 1

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PDE8B PDE8B, 94G-C AND 1-BP DEL, 95T deletion Pathogenic
2 PDE8B NM_003719.3(PDE8B): c.79delC (p.Arg27Alafs) deletion Pathogenic rs878853157 GRCh37 Chromosome 5, 76506829: 76506829
3 PDE8B NM_003719.3(PDE8B): c.79delC (p.Arg27Alafs) deletion Pathogenic rs878853157 GRCh38 Chromosome 5, 77211004: 77211004
4 PDE8B NM_003719.3(PDE8B): c.304G> T (p.Glu102Ter) single nucleotide variant Pathogenic rs878853158 GRCh37 Chromosome 5, 76507054: 76507054
5 PDE8B NM_003719.3(PDE8B): c.304G> T (p.Glu102Ter) single nucleotide variant Pathogenic rs878853158 GRCh38 Chromosome 5, 77211229: 77211229

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:

37
# 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 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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