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 ⁷³ ²⁹ ⁶ ³⁹ ⁷¹

Xpds ⁵⁷ ¹² ⁵⁸ ⁷³

X-Linked Parkinsonism-Spasticity Syndrome ¹² ⁵⁸

X-Linked Parkinsonism with Spasticity ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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:
Onset and clinical course slow progression
Inheritance x-linked recessive inheritance

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:

Disease Ontology ¹² DOID:0112105

OMIM® ⁵⁷ 300911

MeSH ⁴⁴ 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

Disease Ontology : ¹² A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has material basis in hemizygous mutation in ATP6AP2 on chromosome Xp11.4.

MalaCards based summary : Parkinsonism with Spasticity, X-Linked, also known as xpds, is related to mental retardation, x-linked, syndromic, hedera type and parkinsonism, 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 cogwheel rigidity and resting tremor

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.

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:

#	Related Disease	Score
1	mental retardation, x-linked, syndromic, hedera type	9.9
2	parkinsonism	9.9
3	spasticity	9.9

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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 17)

#	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	hyperactive deep tendon reflexes ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0006801
5	bradykinesia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002067
6	spasticity ⁵⁸ ³¹	occasional (7.5%)	Frequent (79-30%)	HP:0001257
7	mask-like facies ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000298
8	spastic paraparesis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002313
9	ankle clonus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011448
10	diffuse cerebral atrophy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002506
11	dilation of lateral ventricles ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006956
12	dilated third ventricle ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007082
13	scissor gait ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0012407
14	hyperreflexia ³¹	occasional (7.5%)		HP:0001347
15	seizure ³¹	occasional (7.5%)		HP:0001250
16	seizures ⁵⁸		Occasional (29-5%)
17	parkinsonism ³¹			HP:0001300

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Neurologic Central Nervous System:
cogwheel rigidity
parkinsonism
bradykinesia
resting tremor
spasticity (in some patients)
more

Clinical features from OMIM®:

300911 (Updated 05-Mar-2021)

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

Articles related to Parkinsonism with Spasticity, X-Linked:

#	Title	Authors	PMID	Year
1	Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). ⁵⁷ ⁶ ⁶¹	Korvatska O...Raskind WH	23595882	2013
2	A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity. ⁶¹ ⁶ ⁵⁷	Poorkaj P...Bird TD	20629132	2010
3	Sex differences in autophagy-mediated diseases: toward precision medicine. ⁶¹	Shang D...Zhou R	32264724	2020
4	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
5	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
6	Purified rhodium edge states: undercoordination-induced quantum entrapment and polarization. ⁶¹	Zheng W...Sun CQ	20721394	2010
7	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	PubMed IDs
1	ATP6AP2	ATPase H+ Transporting Accessory Protein 2	Protein Coding	1417.35	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	20629132 23595882
2	G6PD	Glucose-6-Phosphate Dehydrogenase	Protein Coding	7.64	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	ATP6AP2	NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile)	SNV	Uncertain significance	204912	rs142013283	X:40456872-40456872	X:40597620-40597620
3	G6PD	NM_000402.4(G6PD):c.292G>A (p.Val98Met)	SNV	Uncertain significance	37123	rs1050828	X:153764217-153764217	X:154536002-154536002

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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

¹ BioSystems

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⁵⁷ OMIM® (Updated 05-Mar-2021)

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⁶⁹ TGDB

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

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:

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

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