XPDS
MCID: PRK066
MIFTS: 28

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 74 29 6 40 72
Xpds 57 59 74
X-Linked Parkinsonism-Spasticity Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
x-linked parkinsonism-spasticity syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
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:

32
parkinsonism with spasticity, x-linked:
Inheritance autosomal recessive inheritance x-linked recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 300911
ICD10 via Orphanet 34 G20
Orphanet 59 ORPHA363654
UMLS 72 C3806722

Summaries for Parkinsonism with Spasticity, X-Linked

UniProtKB/Swiss-Prot : 74 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). 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 cerebrooculofacioskeletal syndrome 1 11.5
5 warsaw breakage syndrome 11.5
6 obsolete: xeroderma pigmentosum complementation group d 11.2
7 xeroderma pigmentosum, complementation group a 11.2
8 cockayne syndrome type ii 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 colorectal cancer 10.2
22 small cell cancer of the lung 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 prostate cancer 10.2
28 nasopharyngeal carcinoma 10.2
29 leukemia, acute lymphoblastic 10.2
30 gastric cancer 10.2
31 lymphocytic leukemia 10.2
32 basal cell carcinoma 10.2
33 lung benign neoplasm 10.2
34 premature aging 10.2
35 pre-eclampsia 10.1
36 neutropenia 10.1
37 ichthyosis 10.1
38 skin melanoma 10.1
39 glioma 10.1
40 oral cancer 10.1
41 obsolete: squamous cell carcinoma of head and neck 10.1
42 hepatocellular carcinoma 10.1
43 aging 10.1
44 intraocular pressure quantitative trait locus 10.1
45 autosomal recessive disease 10.1
46 oral squamous cell carcinoma 10.1
47 rectum cancer 10.1
48 adenoma 10.1
49 gastroesophageal reflux 10.0
50 cockayne syndrome b 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:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cogwheel rigidity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002396
2 resting tremor 59 32 hallmark (90%) Very frequent (99-80%) HP:0002322
3 babinski sign 59 32 occasional (7.5%) Frequent (79-30%) HP:0003487
4 bradykinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002067
5 hyperactive deep tendon reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0006801
6 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
7 spasticity 59 32 occasional (7.5%) Frequent (79-30%) HP:0001257
8 mask-like facies 59 32 occasional (7.5%) Occasional (29-5%) HP:0000298
9 ankle clonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0011448
10 diffuse cerebral atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002506
11 dilation of lateral ventricles 59 32 occasional (7.5%) Occasional (29-5%) HP:0006956
12 spastic paraparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002313
13 dilated third ventricle 59 32 occasional (7.5%) Occasional (29-5%) HP:0007082
14 scissor gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0012407
15 hyperreflexia 32 occasional (7.5%) HP:0001347
16 parkinsonism 32 HP:0001300

Symptoms via clinical synopsis from OMIM:

57
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

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). 38 8 71
23595882 2013
2
A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity. 38 8 71
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. 38
27816563 2017
4
The role of individual domains and the significance of shedding of ATP6AP2/(pro)renin receptor in vacuolar H(+)-ATPase biogenesis. 38
24223829 2013
5
Purified rhodium edge states: undercoordination-induced quantum entrapment and polarization. 38
20721394 2010
6
The XPD helicase: XPanDing archaeal XPD structures to get a grip on human DNA repair. 38
20482310 2010

Variations for Parkinsonism with Spasticity, X-Linked

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ATP6AP2 NM_005765.3(ATP6AP2): c.345C> T (p.Ser115=) single nucleotide variant Pathogenic rs397518480 X:40456545-40456545 X:40597293-40597293
2 G6PD NM_000402.4(G6PD): c.292G> A (p.Val98Met) single nucleotide variant drug response rs1050828 X:153764217-153764217 X:154536002-154536002
3 ATP6AP2 NM_005765.3(ATP6AP2): c.490G> A (p.Val164Ile) single nucleotide variant Conflicting interpretations of pathogenicity 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....