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 58 76 30 6 41 74
Xpds 58 60 76
X-Linked Parkinsonism-Spasticity Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
x-linked parkinsonism-spasticity syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

58
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:

33
parkinsonism with spasticity, x-linked:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance x-linked recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Parkinsonism with Spasticity, X-Linked

UniProtKB/Swiss-Prot : 76 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 myeloid, skin and ovary, and related phenotypes are cogwheel rigidity and resting tremor

Description 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 96)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group d 11.8
2 trichothiodystrophy 1, photosensitive 11.5
3 cerebro-oculo-facio-skeletal syndrome 11.4
4 xeroderma pigmentosum, complementation group a 11.1
5 cockayne syndrome type ii 11.1
6 lung cancer 10.6
7 xeroderma pigmentosum, variant type 10.5
8 breast cancer 10.4
9 small cell cancer of the lung 10.4
10 bladder cancer 10.3
11 colorectal cancer 10.3
12 leukemia 10.3
13 squamous cell carcinoma 10.3
14 cataract 10.3
15 melanoma 10.2
16 myeloid leukemia 10.2
17 hepatocellular carcinoma 10.2
18 esophageal cancer 10.2
19 prostate cancer 10.2
20 leukemia, acute myeloid 10.2
21 prostate cancer, hereditary, 8 10.2
22 prostate cancer, hereditary, 6 10.2
23 adenocarcinoma 10.2
24 gastric cancer 10.1
25 basal cell carcinoma 1 10.1
26 basal cell carcinoma 10.1
27 skin carcinoma 10.1
28 aging 10.0
29 nasopharyngeal carcinoma 10.0
30 hepatitis 10.0
31 hepatitis b 10.0
32 lymphoma 10.0
33 skin melanoma 10.0
34 oral cancer 10.0
35 renal cell carcinoma, nonpapillary 9.9
36 hutchinson-gilford progeria syndrome 9.9
37 squamous cell carcinoma, head and neck 9.9
38 cerebrooculofacioskeletal syndrome 2 9.9
39 leukemia, acute lymphoblastic 9.9
40 barrett esophagus 9.9
41 colorectal adenoma 9.9
42 oral squamous cell carcinoma 9.9
43 lymphocytic leukemia 9.9
44 sarcoma 9.9
45 thyroid cancer 9.9
46 cockayne syndrome 9.9
47 adenoma 9.9
48 sporadic breast cancer 9.9
49 alzheimer disease 9.8
50 arteries, anomalies of 9.8

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:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cogwheel rigidity 60 33 hallmark (90%) Very frequent (99-80%) HP:0002396
2 resting tremor 60 33 hallmark (90%) Very frequent (99-80%) HP:0002322
3 babinski sign 60 33 occasional (7.5%) Frequent (79-30%) HP:0003487
4 bradykinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002067
5 hyperactive deep tendon reflexes 60 33 frequent (33%) Frequent (79-30%) HP:0006801
6 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
7 spasticity 60 33 occasional (7.5%) Frequent (79-30%) HP:0001257
8 mask-like facies 60 33 occasional (7.5%) Occasional (29-5%) HP:0000298
9 ankle clonus 60 33 occasional (7.5%) Occasional (29-5%) HP:0011448
10 dilation of lateral ventricles 60 33 occasional (7.5%) Occasional (29-5%) HP:0006956
11 spastic paraparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002313
12 diffuse cerebral atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002506
13 dilated third ventricle 60 33 occasional (7.5%) Occasional (29-5%) HP:0007082
14 scissor gait 60 33 occasional (7.5%) Occasional (29-5%) HP:0012407
15 hyperreflexia 33 occasional (7.5%) HP:0001347
16 parkinsonism 33 HP:0001300

Symptoms via clinical synopsis from OMIM:

58
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 30 ATP6AP2

Anatomical Context for Parkinsonism with Spasticity, X-Linked

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

42
Myeloid, Skin, Ovary, Thyroid

Publications for Parkinsonism with Spasticity, X-Linked

Articles related to Parkinsonism with Spasticity, X-Linked:

# Title Authors Year
1
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). ( 23595882 )
2013
2
A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity. ( 20629132 )
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 Assembly Location
1 G6PD NM_000402.4(G6PD): c.292G> A (p.Val98Met) single nucleotide variant drug response rs1050828 GRCh37 Chromosome X, 153764217: 153764217
2 G6PD NM_000402.4(G6PD): c.292G> A (p.Val98Met) single nucleotide variant drug response rs1050828 GRCh38 Chromosome X, 154536002: 154536002
3 ATP6AP2 NM_005765.2(ATP6AP2): c.345C> T (p.Ser115=) single nucleotide variant Pathogenic rs397518480 GRCh37 Chromosome X, 40456545: 40456545
4 ATP6AP2 NM_005765.2(ATP6AP2): c.345C> T (p.Ser115=) single nucleotide variant Pathogenic rs397518480 GRCh38 Chromosome X, 40597293: 40597293
5 ATP6AP2 NM_005765.2(ATP6AP2): c.490G> A (p.Val164Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs142013283 GRCh37 Chromosome X, 40456872: 40456872
6 ATP6AP2 NM_005765.2(ATP6AP2): c.490G> A (p.Val164Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs142013283 GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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