PARK15
MCID: PRK086
MIFTS: 47

Parkinson Disease 15, Autosomal Recessive Early-Onset (PARK15)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Parkinson Disease 15, Autosomal Recessive Early-Onset

MalaCards integrated aliases for Parkinson Disease 15, Autosomal Recessive Early-Onset:

Name: Parkinson Disease 15, Autosomal Recessive Early-Onset 57
Pallidopyramidal Syndrome 57 12 53 59 74
Parkinsonian-Pyramidal Syndrome 57 12 59 74
Parkinson Disease 15, Autosomal Recessive 57 13 72
Parkinson Disease 15 74 29 6
Autosomal Recessive Early-Onset Parkinson's Disease 15 12 15
Pallido-Pyramidal Syndrome 57 74
Park15 57 74
Pkps 57 74
Autosomal Recessive Early-Onset Parkinson Disease 15 12
Parkinson Disease 15 Autosomal Recessive 74
Parkinsonian-Pyramidal Syndrome; Pkps 57
Parkinson Disease, Type 15 40
Pallido-Pyramidal Disease 53
Parkinson's Disease 15 12
Pps 74

Characteristics:

Orphanet epidemiological data:

59
parkinsonian-pyramidal syndrome
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult;

OMIM:

57
Miscellaneous:
slow progression
onset in adolescence or young adulthood
childhood onset has been reported in 1 family
extrapyramidal signs show a favorable response to levodopa

Inheritance:
autosomal recessive


HPO:

32
parkinson disease 15, autosomal recessive early-onset:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression young adult onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060372
MeSH 44 D020734
ICD10 via Orphanet 34 G20
UMLS via Orphanet 73 C1850100
Orphanet 59 ORPHA171695
MedGen 42 C1850100
UMLS 72 C1850100

Summaries for Parkinson Disease 15, Autosomal Recessive Early-Onset

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 171695DefinitionParkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism).Visit the Orphanet disease page for more resources.

MalaCards based summary : Parkinson Disease 15, Autosomal Recessive Early-Onset, also known as pallidopyramidal syndrome, is related to parkinson disease, late-onset and dystonia, and has symptoms including tremor, abnormality of extrapyramidal motor function and bradykinesia. An important gene associated with Parkinson Disease 15, Autosomal Recessive Early-Onset is FBXO7 (F-Box Protein 7), and among its related pathways/superpathways are Neuroscience and Parkinsons Disease Pathway. Affiliated tissues include eye, and related phenotypes are parkinsonism and spasticity

Disease Ontology : 12 An early-onset Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3.

UniProtKB/Swiss-Prot : 74 Parkinson disease 15: A neurodegenerative disorder characterized by parkinsonian and pyramidal signs. Clinical manifestations include tremor, bradykinesia, rigidity, postural instability, spasticity, mainly in the lower limbs, and hyperreflexia.

More information from OMIM: 260300 PS168600

Related Diseases for Parkinson Disease 15, Autosomal Recessive Early-Onset

Diseases in the Parkinson Disease, Late-Onset family:

Parkinson Disease 1, Autosomal Dominant Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinson Disease 12 Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinson Disease 3, Autosomal Dominant Parkinson Disease 4, Autosomal Dominant
Parkinson Disease 6, Autosomal Recessive Early-Onset Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinson Disease 10 Parkinson Disease 8, Autosomal Dominant
Parkinson Disease 11, Autosomal Dominant Parkinson Disease 13, Autosomal Dominant
Parkinson Disease 14, Autosomal Recessive Parkinson Disease 16
Parkinson Disease 5, Autosomal Dominant Parkinson Disease 17
Parkinson Disease 18, Autosomal Dominant Parkinson Disease 19a, Juvenile-Onset
Parkinson Disease 20, Early-Onset Parkinson Disease 21
Parkinson Disease 22, Autosomal Dominant Parkinson Disease 23, Autosomal Recessive Early-Onset
Juvenile-Onset Parkinson's Disease Early-Onset Parkinson's Disease
Parkinson Disease Type 9 Hereditary Late-Onset Parkinson Disease

Diseases related to Parkinson Disease 15, Autosomal Recessive Early-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 322)
# Related Disease Score Top Affiliating Genes
1 parkinson disease, late-onset 29.6 SNCA PARK7 ATP13A2
2 dystonia 29.0 PLA2G6 PANK2 C19orf12
3 3-methylglutaconic aciduria, type iii 28.6 SNCA C19orf12
4 hereditary spastic paraplegia 28.6 SPG11 PLA2G6 C19orf12 ATP13A2
5 neurodegeneration with brain iron accumulation 27.9 SNCA PLA2G6 PANK2 C19orf12 ATP13A2
6 popliteal pterygium syndrome 12.3
7 irf6-related disorders 11.7
8 postpoliomyelitis syndrome 11.7
9 van der woude syndrome 1 11.5
10 hyperkalemic periodic paralysis 11.2
11 bartsocas-papas syndrome 11.2
12 west nile virus 11.2
13 pemphigus 11.2
14 chaotic atrial tachycardia 11.2
15 immunodeficiency, common variable, 10 10.5
16 astigmatism 10.4
17 keratoconus 10.3
18 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
19 spasticity 10.2
20 48,xyyy 10.2
21 ovarian cancer 10.2
22 myeloma, multiple 10.2
23 anisometropia 10.2
24 spastic paraplegia 11, autosomal recessive 10.2
25 blepharospasm 10.2
26 parkinson disease 10 10.2 SNCA PARK7
27 parkinson disease 3, autosomal dominant 10.2 SNCA PARK7
28 pancreatic cancer 10.1
29 multiple system atrophy 1 10.1
30 parkinson disease 1, autosomal dominant 10.1
31 paraplegia 10.1
32 inherited metabolic disorder 10.1
33 complex hereditary spastic paraplegia 10.1
34 liver disease 10.1
35 47,xyy 10.1
36 rapidly involuting congenital hemangioma 10.1
37 parkinson disease 2, autosomal recessive juvenile 10.1 SNCA PARK7
38 cleft lip 10.0
39 back pain 10.0
40 cleft lip/palate 10.0
41 supranuclear palsy, progressive, 1 10.0 SNCA PARK7
42 neurodegeneration with brain iron accumulation 2a 10.0 PLA2G6 PANK2
43 neuroaxonal dystrophy 10.0 PLA2G6 PANK2
44 kaposi sarcoma 10.0
45 pelvic organ prolapse 10.0
46 autism 10.0
47 intraocular pressure quantitative trait locus 10.0
48 microvascular complications of diabetes 5 10.0
49 helix syndrome 10.0
50 duodenal ulcer 10.0

Graphical network of the top 20 diseases related to Parkinson Disease 15, Autosomal Recessive Early-Onset:



Diseases related to Parkinson Disease 15, Autosomal Recessive Early-Onset

Symptoms & Phenotypes for Parkinson Disease 15, Autosomal Recessive Early-Onset

Human phenotypes related to Parkinson Disease 15, Autosomal Recessive Early-Onset:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 parkinsonism 59 32 obligate (100%) Obligate (100%) HP:0001300
2 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
3 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
4 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
5 sleep disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0002360
6 hypomimic face 59 32 frequent (33%) Frequent (79-30%) HP:0000338
7 myoclonus 59 32 frequent (33%) Frequent (79-30%) HP:0001336
8 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
9 intention tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002080
10 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
11 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
12 rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002063
13 visual hallucinations 59 32 frequent (33%) Frequent (79-30%) HP:0002367
14 bradykinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002067
15 shuffling gait 59 32 frequent (33%) Frequent (79-30%) HP:0002362
16 neurogenic bladder 59 32 frequent (33%) Frequent (79-30%) HP:0000011
17 slow saccadic eye movements 59 32 frequent (33%) Frequent (79-30%) HP:0000514
18 postural instability 59 32 frequent (33%) Frequent (79-30%) HP:0002172
19 substantia nigra gliosis 59 32 frequent (33%) Frequent (79-30%) HP:0011960
20 monotonic speech 59 32 frequent (33%) Frequent (79-30%) HP:0031435
21 abnormal autonomic nervous system physiology 32 frequent (33%) HP:0012332
22 dementia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000726
23 lewy bodies 59 32 occasional (7.5%) Occasional (29-5%) HP:0100315
24 dysarthria 32 HP:0001260
25 tremor 32 HP:0001337
26 dysautonomia 59 Frequent (79-30%)
27 abnormal pyramidal sign 59 Obligate (100%)
28 cognitive impairment 59 Frequent (79-30%)
29 abnormality of extrapyramidal motor function 32 HP:0002071
30 lower limb spasticity 32 HP:0002061
31 parkinsonism with favorable response to dopaminergic medication 32 HP:0002548
32 scissor gait 32 HP:0012407

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
tremor
hyperreflexia
dystonia
rigidity
more
Skeletal Feet:
pes equinovarus

Head And Neck Eyes:
slow saccades
reduced upgaze

Voice:
monotone speech

Clinical features from OMIM:

260300

UMLS symptoms related to Parkinson Disease 15, Autosomal Recessive Early-Onset:


tremor, abnormality of extrapyramidal motor function, bradykinesia, muscle rigidity, abnormal pyramidal signs

MGI Mouse Phenotypes related to Parkinson Disease 15, Autosomal Recessive Early-Onset:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 ATP13A2 PANK2 PARK7 PLA2G6 SNCA SPG11
2 cellular MP:0005384 9.43 ATP13A2 PANK2 PARK7 PLA2G6 SNCA SPG11
3 nervous system MP:0003631 9.1 ATP13A2 PANK2 PARK7 PLA2G6 SNCA SPG11

Drugs & Therapeutics for Parkinson Disease 15, Autosomal Recessive Early-Onset

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diagnosis of Parkinson's Disease Using Diffusion Magnetic Resonance Imaging Completed NCT01715727

Search NIH Clinical Center for Parkinson Disease 15, Autosomal Recessive Early-Onset

Genetic Tests for Parkinson Disease 15, Autosomal Recessive Early-Onset

Genetic tests related to Parkinson Disease 15, Autosomal Recessive Early-Onset:

# Genetic test Affiliating Genes
1 Parkinson Disease 15 29 FBXO7

Anatomical Context for Parkinson Disease 15, Autosomal Recessive Early-Onset

MalaCards organs/tissues related to Parkinson Disease 15, Autosomal Recessive Early-Onset:

41
Eye

Publications for Parkinson Disease 15, Autosomal Recessive Early-Onset

Articles related to Parkinson Disease 15, Autosomal Recessive Early-Onset:

(show all 14)
# Title Authors PMID Year
1
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. 8 71
19038853 2009
2
Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays. 8 71
18513678 2008
3
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 71
23279440 2013
4
Pallido-pyramidal syndrome: a rare entity. 8
17337817 2007
5
Pallido-pyramidal syndrome with blepharospasm and good response to levodopa. 8
16362831 2005
6
Parkinson Disease Overview 71
20301402 2004
7
Familial levodopa-responsive parkinsonian-pyramidal syndrome. 8
7845409 1994
8
Pallido-pyramidal syndrome treated with levodopa. 8
1151403 1975
9
Familial progressive pallidum atrophy. 8
5444533 1970
10
[Progressive pallidal atrophy]. 8
5644941 1968
11
[CLINICAL CONTRIBUTION TO THE PATHOLOGICAL ASPECT OF PROGRESSIVE ATROPHY OF THE PALLIDUM (VAN BOGAERT)]. 8
14052483 1963
12
Pallido-pyramidal disease. 8
13118374 1954
13
Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike. 38
29983692 2018
14
Pseudobulbar palsy: a clinical computed tomography study. 38
2298226 1990

Variations for Parkinson Disease 15, Autosomal Recessive Early-Onset

ClinVar genetic disease variations for Parkinson Disease 15, Autosomal Recessive Early-Onset:

6 (show all 23)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FBXO7 NM_012179.4(FBXO7): c.152del (p.Asn51fs) deletion Pathogenic rs1228608709 22:32874996-32874996 22:32479009-32479009
2 FBXO7 NM_012179.4(FBXO7): c.65C> T (p.Thr22Met) single nucleotide variant Pathogenic rs121918305 22:32871054-32871054 22:32475067-32475067
3 FBXO7 NM_012179.4(FBXO7): c.1132C> G (p.Arg378Gly) single nucleotide variant Pathogenic rs71799110 22:32889256-32889256 22:32493269-32493269
4 FBXO7 NM_012179.4(FBXO7): c.1492C> T (p.Arg498Ter) single nucleotide variant Pathogenic rs121918304 22:32894440-32894440 22:32498453-32498453
5 FBXO7 NM_012179.4(FBXO7): c.1144+1G> T single nucleotide variant Pathogenic rs730880272 22:32889269-32889269 22:32493282-32493282
6 FBXO7 NM_012179.4(FBXO7): c.1206_1207dup (p.Arg403fs) duplication Pathogenic 22:32894152-32894153 22:32498167-32498168
7 FBXO7 NM_012179.4(FBXO7): c.1144+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199954341 22:32889277-32889277 22:32493290-32493290
8 FBXO7 NM_012179.4(FBXO7): c.693C> T (p.Ser231=) single nucleotide variant Conflicting interpretations of pathogenicity rs61752254 22:32881102-32881102 22:32485115-32485115
9 FBXO7 NM_012179.4(FBXO7): c.122+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs192327462 22:32871120-32871120 22:32475133-32475133
10 FBXO7 NM_012179.4(FBXO7): c.722_723CT[2] (p.Cys243fs) short repeat Uncertain significance 22:32881130-32881132 22:32485144-32485145
11 FBXO7 NM_012179.4(FBXO7): c.1263_1267CATTC[3] (p.Tyr425fs) short repeat Uncertain significance 22:32894209-32894209 22:32498224-32498228
12 FBXO7 NM_012179.4(FBXO7): c.169A> G (p.Thr57Ala) single nucleotide variant Uncertain significance 22:32875014-32875014 22:32479027-32479027
13 FBXO7 NM_012179.4(FBXO7): c.697G> A (p.Val233Met) single nucleotide variant Uncertain significance 22:32881106-32881106 22:32485119-32485119
14 FBXO7 NM_012179.4(FBXO7): c.1070C> T (p.Ala357Val) single nucleotide variant Uncertain significance 22:32889194-32889194 22:32493207-32493207
15 FBXO7 NM_012179.4(FBXO7): c.1385G> T (p.Ser462Ile) single nucleotide variant Uncertain significance 22:32894333-32894333 22:32498346-32498346
16 FBXO7 NM_012179.4(FBXO7): c.1536_1539del (p.Arg513fs) deletion Uncertain significance 22:32894482-32894485 22:32498497-32498500
17 FBXO7 NM_012179.4(FBXO7): c.260T> C (p.Ile87Thr) single nucleotide variant Uncertain significance rs780055842 22:32875105-32875105 22:32479118-32479118
18 FBXO7 NM_012179.4(FBXO7): c.1546G> C (p.Asp516His) single nucleotide variant Uncertain significance rs34316445 22:32894494-32894494 22:32498507-32498507
19 FBXO7 NM_012179.4(FBXO7): c.601G> A (p.Val201Met) single nucleotide variant Likely benign rs61730783 22:32880067-32880067 22:32484080-32484080
20 FBXO7 NM_012179.4(FBXO7): c.540A> G (p.Pro180=) single nucleotide variant Benign/Likely benign rs41311141 22:32880006-32880006 22:32484019-32484019
21 FBXO7 NM_012179.4(FBXO7): c.122+272T> G single nucleotide variant Benign rs8137714 22:32871383-32871383 22:32475396-32475396
22 FBXO7 NM_012179.4(FBXO7): c.345G> A (p.Met115Ile) single nucleotide variant Benign rs11107 22:32875190-32875190 22:32479203-32479203
23 FBXO7 NM_012179.4(FBXO7): c.949C> T (p.Leu317=) single nucleotide variant Benign rs9726 22:32887150-32887150 22:32491163-32491163

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 15, Autosomal Recessive Early-Onset:

74
# Symbol AA change Variation ID SNP ID
1 FBXO7 p.Arg378Gly VAR_047938 rs71799110

Expression for Parkinson Disease 15, Autosomal Recessive Early-Onset

Search GEO for disease gene expression data for Parkinson Disease 15, Autosomal Recessive Early-Onset.

Pathways for Parkinson Disease 15, Autosomal Recessive Early-Onset

Pathways related to Parkinson Disease 15, Autosomal Recessive Early-Onset according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.46 SNCA PARK7 FBXO7 ATP13A2
2 11.08 SNCA PARK7
3 10.46 SNCA PARK7

GO Terms for Parkinson Disease 15, Autosomal Recessive Early-Onset

Cellular components related to Parkinson Disease 15, Autosomal Recessive Early-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.7 SPG11 SNCA PLA2G6 PARK7 PANK2 FBXO7
2 axon GO:0030424 9.43 SPG11 SNCA PARK7
3 mitochondrial intermembrane space GO:0005758 9.13 SNCA PARK7 PANK2
4 mitochondrion GO:0005739 9.1 SNCA PLA2G6 PARK7 PANK2 FBXO7 C19orf12

Biological processes related to Parkinson Disease 15, Autosomal Recessive Early-Onset according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.51 SNCA PARK7
2 negative regulation of protein phosphorylation GO:0001933 9.49 SNCA PARK7
3 adult locomotory behavior GO:0008344 9.48 SNCA PARK7
4 regulation of mitochondrial membrane potential GO:0051881 9.46 PARK7 PANK2
5 synaptic transmission, dopaminergic GO:0001963 9.43 SNCA PARK7
6 cellular response to oxidative stress GO:0034599 9.43 SNCA PARK7 ATP13A2
7 synaptic vesicle transport GO:0048489 9.4 SPG11 SNCA
8 negative regulation of oxidative stress-induced neuron death GO:1903204 9.37 PARK7 FBXO7
9 regulation of locomotion GO:0040012 9.32 SNCA FBXO7
10 positive regulation of autophagy of mitochondrion GO:1903599 9.16 PARK7 FBXO7
11 dopamine uptake involved in synaptic transmission GO:0051583 8.96 SNCA PARK7
12 negative regulation of neuron death GO:1901215 8.92 SNCA PARK7 FBXO7 ATP13A2

Molecular functions related to Parkinson Disease 15, Autosomal Recessive Early-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 9.16 SNCA PARK7
2 cuprous ion binding GO:1903136 8.96 SNCA PARK7
3 cupric ion binding GO:1903135 8.62 PARK7 ATP13A2

Sources for Parkinson Disease 15, Autosomal Recessive Early-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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