MCID: STR092
MIFTS: 25

Striatal Degeneration, Autosomal Dominant 2

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Striatal Degeneration, Autosomal Dominant 2

MalaCards integrated aliases for Striatal Degeneration, Autosomal Dominant 2:

Name: Striatal Degeneration, Autosomal Dominant 2 57 75 6
Adsd2 57 75
Childhood-Onset Benign Chorea with Striatal Involvement 59
Degeneration, Striatal, Autosomal Dominant, Type 2 40
Striatal Degeneration, Autosomal Dominant 57
Hyperactive Behavior 73
Hyperkinesis 44

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
nonprogressive
onset between 5 and 10 years of age
three unrelated patients have been reported (last curated april 2016)


HPO:

32
striatal degeneration, autosomal dominant 2:
Onset and clinical course nonprogressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Striatal Degeneration, Autosomal Dominant 2

OMIM : 57 Autosomal dominant striatal degeneration-2 is a neurologic disorder characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia. Although symptoms appear in the first decade, the disorder is not progressive (summary by Mencacci et al., 2016). For a discussion of genetic heterogeneity of ADSD, see ADSD1 (609161). (616922)

MalaCards based summary : Striatal Degeneration, Autosomal Dominant 2, also known as adsd2, is related to striatal degeneration, autosomal dominant 1 and dyskinesia, limb and orofacial, infantile-onset, and has symptoms including ataxia, athetosis and dystonia. An important gene associated with Striatal Degeneration, Autosomal Dominant 2 is PDE10A (Phosphodiesterase 10A). Affiliated tissues include temporal lobe, and related phenotypes are chorea and abnormality of the striatum

UniProtKB/Swiss-Prot : 75 Striatal degeneration, autosomal dominant 2: An autosomal dominant disorder characterized by striatal degeneration and dysfunction of basal ganglia, resulting in hyperkinesis.

Related Diseases for Striatal Degeneration, Autosomal Dominant 2

Diseases in the Striatal Degeneration, Autosomal Dominant 1 family:

Striatal Degeneration, Autosomal Dominant 2

Diseases related to Striatal Degeneration, Autosomal Dominant 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 striatal degeneration, autosomal dominant 1 12.6
2 dyskinesia, limb and orofacial, infantile-onset 10.9
3 cleft soft palate 9.8
4 attention deficit-hyperactivity disorder 9.8
5 fragile x syndrome 9.8
6 epilepsy 9.8
7 astrocytoma 9.8
8 grade iii astrocytoma 9.8
9 neuronitis 9.8
10 diencephalic syndrome 9.8

Graphical network of the top 20 diseases related to Striatal Degeneration, Autosomal Dominant 2:



Diseases related to Striatal Degeneration, Autosomal Dominant 2

Symptoms & Phenotypes for Striatal Degeneration, Autosomal Dominant 2

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
chorea
striatal t2-weighted hyperintensities seen on mri
striatal atrophy (later)
striatal swelling (early)


Clinical features from OMIM:

616922

Human phenotypes related to Striatal Degeneration, Autosomal Dominant 2:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chorea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002072
2 abnormality of the striatum 59 32 Frequent (79-30%) HP:0010994
3 striatal t2 hyperintensity 59 32 frequent (33%) Frequent (79-30%) HP:0031206
4 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
5 parkinsonism with favorable response to dopaminergic medication 59 32 occasional (7.5%) Occasional (29-5%) HP:0002548
6 dementia 59 Excluded (0%)
7 delayed gross motor development 59 Excluded (0%)
8 intellectual disability 32 HP:0001249
9 mental deterioration 32 HP:0001268
10 parkinsonism 32 HP:0001300

UMLS symptoms related to Striatal Degeneration, Autosomal Dominant 2:


ataxia, athetosis, dystonia, myoclonus, nervousness, spasm, tremor, agitation, muscle fibrillation, asterixis, synkinesis, mental and behavioral signs and symptoms, akathisia, involuntary movements, myokymia, motor restlessness, hyperkinesia, generalized, symptoms, restlessness

Drugs & Therapeutics for Striatal Degeneration, Autosomal Dominant 2

Search Clinical Trials , NIH Clinical Center for Striatal Degeneration, Autosomal Dominant 2

Cochrane evidence based reviews: hyperkinesis

Genetic Tests for Striatal Degeneration, Autosomal Dominant 2

Anatomical Context for Striatal Degeneration, Autosomal Dominant 2

MalaCards organs/tissues related to Striatal Degeneration, Autosomal Dominant 2:

41
Temporal Lobe

Publications for Striatal Degeneration, Autosomal Dominant 2

Articles related to Striatal Degeneration, Autosomal Dominant 2:

# Title Authors Year
1
Circadian Gene Circuitry Predicts Hyperactive Behavior in a Mood Disorder Mouse Model. ( 27028761 )
2016
2
Hyperactive behavior in a family with autosomal dominant lateral temporal lobe epilepsy caused by a mutation in the LGI1/epitempin gene. ( 23651915 )
2013

Variations for Striatal Degeneration, Autosomal Dominant 2

UniProtKB/Swiss-Prot genetic disease variations for Striatal Degeneration, Autosomal Dominant 2:

75
# Symbol AA change Variation ID SNP ID
1 PDE10A p.Phe290Leu VAR_076800 rs875989841
2 PDE10A p.Phe324Leu VAR_076801 rs875989840

ClinVar genetic disease variations for Striatal Degeneration, Autosomal Dominant 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PDE10A NM_001130690.2(PDE10A): c.1000T> C (p.Phe334Leu) single nucleotide variant Pathogenic rs875989840 GRCh37 Chromosome 6, 165829768: 165829768
2 PDE10A NM_001130690.2(PDE10A): c.1000T> C (p.Phe334Leu) single nucleotide variant Pathogenic rs875989840 GRCh38 Chromosome 6, 165416280: 165416280
3 PDE10A NM_001130690.2(PDE10A): c.898T> C (p.Phe300Leu) single nucleotide variant Pathogenic rs875989841 GRCh37 Chromosome 6, 165832223: 165832223
4 PDE10A NM_001130690.2(PDE10A): c.898T> C (p.Phe300Leu) single nucleotide variant Pathogenic rs875989841 GRCh38 Chromosome 6, 165418735: 165418735

Expression for Striatal Degeneration, Autosomal Dominant 2

Search GEO for disease gene expression data for Striatal Degeneration, Autosomal Dominant 2.

Pathways for Striatal Degeneration, Autosomal Dominant 2

GO Terms for Striatal Degeneration, Autosomal Dominant 2

Sources for Striatal Degeneration, Autosomal Dominant 2

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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