XPDS
MCID: PRK066
MIFTS: 26

Parkinsonism with Spasticity, X-Linked (XPDS)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Parkinsonism with Spasticity, X-Linked

MalaCards integrated aliases for Parkinsonism with Spasticity, X-Linked:

Name: Parkinsonism with Spasticity, X-Linked 57 72 29 6 39 70
Xpds 57 12 58 72
X-Linked Parkinsonism-Spasticity Syndrome 12 58
X-Linked Parkinsonism with Spasticity 12

Characteristics:

Orphanet epidemiological data:

58
x-linked parkinsonism-spasticity syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
slowly progressive
one family has been reported (last curated november 2013)
variable age at onset (range 14 to 50 years)
some response to l-dopa therapy
spasticity occurs before parkinsonism

Inheritance:
x-linked recessive


HPO:

31
parkinsonism with spasticity, x-linked:
Onset and clinical course slow progression
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Parkinsonism with Spasticity, X-Linked

Disease Ontology : 12 A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has material basis in hemizygous mutation in ATP6AP2 on chromosome Xp11.4.

MalaCards based summary : Parkinsonism with Spasticity, X-Linked, also known as xpds, is related to mental retardation, x-linked, syndromic, hedera type and parkinsonism, and has symptoms including cogwheel rigidity, bradykinesia and resting tremor. An important gene associated with Parkinsonism with Spasticity, X-Linked is ATP6AP2 (ATPase H+ Transporting Accessory Protein 2), and among its related pathways/superpathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Related phenotypes are cogwheel rigidity and resting tremor

UniProtKB/Swiss-Prot : 72 Parkinsonism with spasticity, X-linked: A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity.

More information from OMIM: 300911

Related Diseases for Parkinsonism with Spasticity, X-Linked

Diseases related to Parkinsonism with Spasticity, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, syndromic, hedera type 9.9
2 parkinsonism 9.9
3 spasticity 9.9

Symptoms & Phenotypes for Parkinsonism with Spasticity, X-Linked

Human phenotypes related to Parkinsonism with Spasticity, X-Linked:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cogwheel rigidity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002396
2 resting tremor 58 31 hallmark (90%) Very frequent (99-80%) HP:0002322
3 babinski sign 58 31 occasional (7.5%) Frequent (79-30%) HP:0003487
4 hyperactive deep tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0006801
5 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
6 spasticity 58 31 occasional (7.5%) Frequent (79-30%) HP:0001257
7 mask-like facies 58 31 occasional (7.5%) Occasional (29-5%) HP:0000298
8 spastic paraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002313
9 ankle clonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0011448
10 diffuse cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002506
11 dilation of lateral ventricles 58 31 occasional (7.5%) Occasional (29-5%) HP:0006956
12 dilated third ventricle 58 31 occasional (7.5%) Occasional (29-5%) HP:0007082
13 scissor gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0012407
14 hyperreflexia 31 occasional (7.5%) HP:0001347
15 seizure 31 occasional (7.5%) HP:0001250
16 seizures 58 Occasional (29-5%)
17 parkinsonism 31 HP:0001300

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
cogwheel rigidity
parkinsonism
bradykinesia
resting tremor
spasticity (in some patients)
more

Clinical features from OMIM®:

300911 (Updated 20-May-2021)

UMLS symptoms related to Parkinsonism with Spasticity, X-Linked:


cogwheel rigidity; bradykinesia; resting tremor

Drugs & Therapeutics for Parkinsonism with Spasticity, X-Linked

Search Clinical Trials , NIH Clinical Center for Parkinsonism with Spasticity, X-Linked

Genetic Tests for Parkinsonism with Spasticity, X-Linked

Genetic tests related to Parkinsonism with Spasticity, X-Linked:

# Genetic test Affiliating Genes
1 Parkinsonism with Spasticity, X-Linked 29 ATP6AP2

Anatomical Context for Parkinsonism with Spasticity, X-Linked

Publications for Parkinsonism with Spasticity, X-Linked

Articles related to Parkinsonism with Spasticity, X-Linked:

# Title Authors PMID Year
1
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). 6 57 61
23595882 2013
2
A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity. 61 57 6
20629132 2010
3
Sex differences in autophagy-mediated diseases: toward precision medicine. 61
32264724 2020
4
Crystal structure and biochemical investigations reveal novel mode of substrate selectivity and illuminate substrate inhibition and allostericity in a subfamily of Xaa-Pro dipeptidases. 61
27816563 2017
5
The role of individual domains and the significance of shedding of ATP6AP2/(pro)renin receptor in vacuolar H(+)-ATPase biogenesis. 61
24223829 2013
6
Purified rhodium edge states: undercoordination-induced quantum entrapment and polarization. 61
20721394 2010
7
The XPD helicase: XPanDing archaeal XPD structures to get a grip on human DNA repair. 61
20482310 2010

Variations for Parkinsonism with Spasticity, X-Linked

ClinVar genetic disease variations for Parkinsonism with Spasticity, X-Linked:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP6AP2 NM_005765.3(ATP6AP2):c.345C>T (p.Ser115=) SNV Pathogenic 88756 rs397518480 GRCh37: X:40456545-40456545
GRCh38: X:40597293-40597293
2 ATP6AP2 NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile) SNV Uncertain significance 204912 rs142013283 GRCh37: X:40456872-40456872
GRCh38: X:40597620-40597620
3 G6PD NM_000402.4(G6PD):c.292G>A (p.Val98Met) SNV Uncertain significance 37123 rs1050828 GRCh37: X:153764217-153764217
GRCh38: X:154536002-154536002

Expression for Parkinsonism with Spasticity, X-Linked

Search GEO for disease gene expression data for Parkinsonism with Spasticity, X-Linked.

Pathways for Parkinsonism with Spasticity, X-Linked

GO Terms for Parkinsonism with Spasticity, X-Linked

Sources for Parkinsonism with Spasticity, X-Linked

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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