Parkinsonism with Spasticity, X-Linked disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Extrapyramidal and movement disorders

Parkinson disease

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 300911

Orphanet ⁵⁹ ORPHA363654

ICD10 via Orphanet ³⁴ G20

MedGen ⁴² C3806722 CN181443

MeSH ⁴⁴ D019636 D020734

SNOMED-CT via HPO ⁶⁹ 258211005 221360009 397790002 more

UMLS ⁷³ C3806722

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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

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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
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:

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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

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Drugs & Therapeutics for Parkinsonism with Spasticity, X-Linked

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

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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

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Anatomical Context for Parkinsonism with Spasticity, X-Linked

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Publications for Parkinsonism with Spasticity, X-Linked

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Genes for Parkinsonism with Spasticity, X-Linked

Genes related to Parkinsonism with Spasticity, X-Linked (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ATP6AP2	ATPase H+ Transporting Accessory Protein 2	Protein Coding	1427.48	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	20629132 23595882

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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

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Expression for Parkinsonism with Spasticity, X-Linked

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

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Pathways for Parkinsonism with Spasticity, X-Linked

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GO Terms for Parkinsonism with Spasticity, X-Linked

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Sources for Parkinsonism with Spasticity, X-Linked

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⁴¹ MalaCards

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⁴⁸ NCBI Bookshelf

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⁵⁹ Orphanet

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

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⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia