MCID: PRK066
MIFTS: 23

Parkinsonism with Spasticity, X-Linked

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 75 29 6 40 73
Xpds 57 59 75
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:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 300911
Orphanet 59 ORPHA363654
ICD10 via Orphanet 34 G20
UMLS 73 C3806722

Summaries for Parkinsonism with Spasticity, X-Linked

UniProtKB/Swiss-Prot : 75 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 cerebro-oculo-facio-skeletal syndrome, 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). Related phenotypes are spasticity and parkinsonism

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 84)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group d 11.4
2 cerebro-oculo-facio-skeletal syndrome 11.2
3 xeroderma pigmentosum, complementation group a 10.9
4 trichothiodystrophy 1, photosensitive 10.9
5 cockayne syndrome type ii 10.9
6 lung cancer 10.4
7 xeroderma pigmentosum, variant type 10.3
8 small cell cancer of the lung 10.2
9 bladder cancer 10.2
10 breast cancer 10.2
11 aging 10.2
12 esophagitis 10.2
13 colorectal cancer 10.1
14 leukemia 10.1
15 squamous cell carcinoma 10.1
16 cataract 10.1
17 myeloid leukemia 10.0
18 hepatocellular carcinoma 10.0
19 prostate cancer 10.0
20 leukemia, acute myeloid 10.0
21 prostatitis 10.0
22 melanoma 10.0
23 adenocarcinoma 10.0
24 esophageal cancer 9.9
25 basal cell carcinoma 1 9.9
26 gastric cancer 9.9
27 basal cell carcinoma 9.9
28 nasopharyngeal carcinoma 9.8
29 hepatitis 9.8
30 hepatitis b 9.8
31 lymphoma 9.8
32 nasopharyngitis 9.8
33 cervicitis 9.8
34 oral cancer 9.8
35 renal cell carcinoma, nonpapillary 9.7
36 squamous cell carcinoma, head and neck 9.7
37 leukemia, acute lymphoblastic 9.7
38 colorectal adenoma 9.7
39 lymphoblastic leukemia 9.7
40 sarcoma 9.7
41 adenoma 9.7
42 sporadic breast cancer 9.7
43 skin melanoma 9.7
44 alzheimer disease 9.6
45 arteries, anomalies of 9.6
46 glaucoma, primary open angle 9.6
47 ovarian cancer 9.6
48 suppressor of tumorigenicity 3 9.6
49 autism 9.6
50 myelofibrosis 9.6

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

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

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 spasticity 32 occasional (7.5%) HP:0001257
2 parkinsonism 32 HP:0001300
3 hyperreflexia 32 occasional (7.5%) HP:0001347
4 bradykinesia 32 HP:0002067
5 resting tremor 32 HP:0002322
6 cogwheel rigidity 32 HP:0002396
7 babinski sign 32 occasional (7.5%) HP:0003487

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

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 ATP6AP2 NM_005765.2(ATP6AP2): c.345C> T (p.Ser115=) single nucleotide variant Pathogenic rs397518480 GRCh37 Chromosome X, 40456545: 40456545
2 ATP6AP2 NM_005765.2(ATP6AP2): c.345C> T (p.Ser115=) single nucleotide variant Pathogenic rs397518480 GRCh38 Chromosome X, 40597293: 40597293

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 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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