XPDS
MCID: PRK066
MIFTS: 31

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 56 73 29 6 39 71
Xpds 56 58 73
X-Linked Parkinsonism-Spasticity Syndrome 58

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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:
Inheritance autosomal recessive inheritance x-linked recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Parkinsonism with Spasticity, X-Linked

UniProtKB/Swiss-Prot : 73 Parkinsonism with spasticity, X-linked: A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity.

MalaCards based summary : Parkinsonism with Spasticity, X-Linked, also known as xpds, is related to xeroderma pigmentosum, complementation group d and trichothiodystrophy 1, photosensitive, and has symptoms including bradykinesia, cogwheel rigidity and resting tremor. An important gene associated with Parkinsonism with Spasticity, X-Linked is ATP6AP2 (ATPase H+ Transporting Accessory Protein 2). Affiliated tissues include lung, breast and skin, and related phenotypes are cogwheel rigidity and resting tremor

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:

(show top 50) (show all 157)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group d 11.9
2 trichothiodystrophy 1, photosensitive 11.6
3 cerebro-oculo-facio-skeletal syndrome 11.5
4 cockayne syndrome b 11.5
5 cerebrooculofacioskeletal syndrome 1 11.5
6 warsaw breakage syndrome 11.5
7 obsolete: xeroderma pigmentosum complementation group d 11.2
8 xeroderma pigmentosum, complementation group a 11.2
9 xeroderma pigmentosum, variant type 11.0
10 lung cancer 10.6
11 cockayne syndrome 10.6
12 skin carcinoma 10.5
13 bladder cancer 10.5
14 cataract 10.4
15 breast cancer 10.3
16 leukemia, acute myeloid 10.3
17 myeloid leukemia 10.3
18 esophageal cancer 10.3
19 fanconi anemia, complementation group j 10.3
20 melanoma 10.3
21 prostate cancer 10.3
22 colorectal cancer 10.2
23 squamous cell carcinoma 10.2
24 adenocarcinoma 10.2
25 lung cancer susceptibility 1 10.2
26 hutchinson-gilford progeria syndrome 10.2
27 small cell cancer of the lung 10.2
28 nasopharyngeal carcinoma 10.2
29 leukemia, acute lymphoblastic 10.2
30 lymphocytic leukemia 10.2
31 basal cell carcinoma 10.2
32 lung benign neoplasm 10.2
33 oral cancer 10.2
34 premature aging 10.2
35 gastric cancer 10.1
36 pre-eclampsia 10.1
37 neutropenia 10.1
38 ichthyosis 10.1
39 skin melanoma 10.1
40 glioma 10.1
41 obsolete: squamous cell carcinoma of head and neck 10.1
42 hepatocellular carcinoma 10.1
43 intraocular pressure quantitative trait locus 10.1
44 autosomal recessive disease 10.1
45 oral squamous cell carcinoma 10.1
46 rectum cancer 10.1
47 adenoma 10.1
48 leukoplakia 10.1
49 gastroesophageal reflux 10.0
50 glaucoma, primary open angle 10.0

Graphical network of the top 20 diseases related to Parkinsonism with Spasticity, X-Linked:



Diseases related to Parkinsonism with Spasticity, X-Linked

Symptoms & Phenotypes for Parkinsonism with Spasticity, X-Linked

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

58 31 (show all 16)
# 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 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
5 hyperactive deep tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0006801
6 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
7 spasticity 58 31 occasional (7.5%) Frequent (79-30%) HP:0001257
8 mask-like facies 58 31 occasional (7.5%) Occasional (29-5%) HP:0000298
9 ankle clonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0011448
10 spastic paraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002313
11 diffuse cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002506
12 dilation of lateral ventricles 58 31 occasional (7.5%) Occasional (29-5%) HP:0006956
13 dilated third ventricle 58 31 occasional (7.5%) Occasional (29-5%) HP:0007082
14 scissor gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0012407
15 hyperreflexia 31 occasional (7.5%) HP:0001347
16 parkinsonism 31 HP:0001300

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
bradykinesia
parkinsonism
cogwheel rigidity
resting tremor
spasticity (in some patients)
more

Clinical features from OMIM:

300911

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


bradykinesia, cogwheel rigidity, 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

MalaCards organs/tissues related to Parkinsonism with Spasticity, X-Linked:

40
Lung, Breast, Skin, Myeloid, B Cells, Eye, Kidney

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). 61 56 6
23595882 2013
2
A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity. 61 56 6
20629132 2010
3
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
4
The role of individual domains and the significance of shedding of ATP6AP2/(pro)renin receptor in vacuolar H(+)-ATPase biogenesis. 61
24223829 2013
5
Purified rhodium edge states: undercoordination-induced quantum entrapment and polarization. 61
20721394 2010
6
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 GRCh37 Pos GRCh38 Pos
1 ATP6AP2 NM_005765.3(ATP6AP2):c.345C>T (p.Ser115=)SNV Pathogenic 88756 rs397518480 X:40456545-40456545 X:40597293-40597293
2 G6PD NM_000402.4(G6PD):c.292G>A (p.Val98Met)SNV drug response 37123 rs1050828 X:153764217-153764217 X:154536002-154536002
3 ATP6AP2 NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile)SNV Conflicting interpretations of pathogenicity 204912 rs142013283 X:40456872-40456872 X:40597620-40597620

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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