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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Extrapyramidal and movement disorders

Parkinson disease

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

OMIM ⁵⁶ 300911

MeSH ⁴³ D019636 D020734

ICD10 via Orphanet ³³ G20

Orphanet ⁵⁸ ORPHA363654

MedGen ⁴¹ C3806722 CN181443

UMLS ⁷¹ C3806722

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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

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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 157)

#	Related Disease	Score
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:

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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

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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

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

⁴⁰

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

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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	Korvatska O...Raskind WH	23595882	2013
2	A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity. ⁶¹ ⁵⁶ ⁶	Poorkaj P...Bird TD	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	Are VN...Makde RD	27816563	2017
4	The role of individual domains and the significance of shedding of ATP6AP2/(pro)renin receptor in vacuolar H(+)-ATPase biogenesis. ⁶¹	Kinouchi K...Itoh H	24223829	2013
5	Purified rhodium edge states: undercoordination-induced quantum entrapment and polarization. ⁶¹	Zheng W...Sun CQ	20721394	2010
6	The XPD helicase: XPanDing archaeal XPD structures to get a grip on human DNA repair. ⁶¹	Wolski SC...Kisker C	20482310	2010

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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	1417.5	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ Unconfirmed association ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)	20629132 23595882
2	G6PD	Glucose-6-Phosphate Dehydrogenase	Protein Coding	32.62	Drug response ⁶ GeneCards inferred via : Variants (show sections)

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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

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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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⁷¹ UMLS

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⁷⁴ Wikipedia

Parkinsonism with Spasticity, X-Linked (XPDS)

Aliases & Classifications for Parkinsonism with Spasticity, X-Linked

MalaCards integrated aliases for Parkinsonism with Spasticity, X-Linked:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Parkinsonism with Spasticity, X-Linked

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:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics for Parkinsonism with Spasticity, X-Linked

Genetic Tests for Parkinsonism with Spasticity, X-Linked

Genetic tests related to Parkinsonism with Spasticity, X-Linked:

Anatomical Context for Parkinsonism with Spasticity, X-Linked

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

Publications for Parkinsonism with Spasticity, X-Linked

Articles related to Parkinsonism with Spasticity, X-Linked:

Genes for Parkinsonism with Spasticity, X-Linked

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

Variations for Parkinsonism with Spasticity, X-Linked

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

Expression 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