PARK15
MCID: PRK086
MIFTS: 50

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 75
Parkinsonian-Pyramidal Syndrome 57 12 59 75
Parkinson Disease 15, Autosomal Recessive 57 13 73
Parkinson Disease 15 75 29 6
Autosomal Recessive Early-Onset Parkinson's Disease 15 12 15
Pallido-Pyramidal Syndrome 57 75
Park15 57 75
Pkps 57 75
Autosomal Recessive Early-Onset Parkinson Disease 15 12
Parkinson Disease 15 Autosomal Recessive 75
Parkinsonian-Pyramidal Syndrome; Pkps 57
Parkinson Disease, Type 15 40
Pallido-Pyramidal Disease 53
Pps 75

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Parkinson Disease 15, Autosomal Recessive Early-Onset

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Parkinson Disease 15, Autosomal Recessive Early-Onset, also known as pallidopyramidal syndrome, is related to synucleinopathy and dementia, and has symptoms including tremor, abnormal pyramidal signs and abnormality of extrapyramidal motor function. 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, brain and kidney, and related phenotypes are spasticity and hyperreflexia

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

Description from OMIM: 260300

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
Lrrk2-Related Parkinson Disease Vps35-Related Parkinson 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 124)
# Related Disease Score Top Affiliating Genes
1 synucleinopathy 29.5 ATP13A2 PRKN SNCA
2 dementia 29.4 ATP13A2 PRKN SNCA
3 popliteal pterygium syndrome 12.2
4 postpoliomyelitis syndrome 11.6
5 irf6-related disorders 11.3
6 normokalemic periodic paralysis 11.1
7 bartsocas-papas syndrome 11.1
8 chaotic atrial tachycardia 11.1
9 alzheimer disease 10.4
10 blepharospasm 10.2
11 parkinson disease 10 10.1 PRKN SNCA
12 parkinson disease 3, autosomal dominant 10.1 PRKN SNCA
13 dysautonomia 10.1 PRKN SNCA
14 krabbe disease 10.0 PLA2G6 SNCA
15 inclusion body myositis 10.0
16 myositis 10.0
17 depression 10.0
18 parkinson disease 2, autosomal recessive juvenile 10.0 PRKN SNCA
19 multiple system atrophy 1 10.0 PRKN SNCA
20 supranuclear palsy, progressive, 1 10.0 PRKN SNCA
21 gaucher's disease 10.0 PRKN SNCA
22 melanoma 10.0
23 neurodegeneration with brain iron accumulation 2a 10.0 PANK2 PLA2G6
24 neuroaxonal dystrophy 10.0 PANK2 PLA2G6
25 essential tremor 10.0 PRKN SNCA
26 juvenile-onset parkinson's disease 9.9 ATP13A2 FBXO7 PLA2G6
27 early-onset parkinson's disease 9.9 ATP13A2 PRKN SNCA
28 juvenile amyotrophic lateral sclerosis 9.9 C19orf12 SPG11
29 sorsby fundus dystrophy 9.9
30 hypochondroplasia 9.9
31 septooptic dysplasia 9.9
32 pancreatic cancer 9.9
33 peters-plus syndrome 9.9
34 hydrocephalus 9.9
35 pemphigus foliaceus 9.9
36 walker-warburg syndrome 9.9
37 japanese encephalitis 9.9
38 kidney cancer 9.9
39 fundus dystrophy 9.9
40 psoriasis 9.9
41 cleft lip 9.9
42 pustular psoriasis 9.9
43 cleft lip/palate 9.9
44 neurodegeneration with brain iron accumulation 2b 9.9 FBXO7 PANK2 PLA2G6
45 movement disease 9.8 PANK2 PRKN SNCA
46 dementia, lewy body 9.8 PRKN SNCA
47 parkinson disease, late-onset 9.8 ATP13A2 PRKN SNCA
48 axonal neuropathy 9.8 C19orf12 SPG11
49 tremor 9.8 C19orf12 PRKN SNCA
50 cerebral amyloid angiopathy, cst3-related 9.7

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

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

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

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


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

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 PLA2G6 PRKN SNCA SPG11
2 cellular MP:0005384 9.43 ATP13A2 PANK2 PLA2G6 PRKN SNCA SPG11
3 nervous system MP:0003631 9.1 ATP13A2 PANK2 PLA2G6 PRKN SNCA SPG11

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

Search Clinical Trials , 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, Brain, Kidney, Myeloid

Publications for Parkinson Disease 15, Autosomal Recessive Early-Onset

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

# Title Authors Year
1
G51D I+-synuclein mutation causes a novel parkinsonian-pyramidal syndrome. ( 23526723 )
2013
2
Early-onset autosomal-recessive parkinsonian-pyramidal syndrome. ( 23196729 )
2012
3
Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15). ( 21347293 )
2011
4
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. ( 19038853 )
2009
5
Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays. ( 18513678 )
2008

Variations for Parkinson Disease 15, Autosomal Recessive Early-Onset

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

75
# Symbol AA change Variation ID SNP ID
1 FBXO7 p.Arg378Gly VAR_047938 rs71799110

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

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBXO7 NM_012179.3(FBXO7): c.1132C> G (p.Arg378Gly) single nucleotide variant Pathogenic rs71799110 GRCh37 Chromosome 22, 32889256: 32889256
2 FBXO7 NM_012179.3(FBXO7): c.1132C> G (p.Arg378Gly) single nucleotide variant Pathogenic rs71799110 GRCh38 Chromosome 22, 32493269: 32493269
3 FBXO7 NM_012179.3(FBXO7): c.1492C> T (p.Arg498Ter) single nucleotide variant Pathogenic rs121918304 GRCh37 Chromosome 22, 32894440: 32894440
4 FBXO7 NM_012179.3(FBXO7): c.1492C> T (p.Arg498Ter) single nucleotide variant Pathogenic rs121918304 GRCh38 Chromosome 22, 32498453: 32498453
5 FBXO7 NM_012179.3(FBXO7): c.1144+1G> T single nucleotide variant Pathogenic rs730880272 GRCh37 Chromosome 22, 32889269: 32889269
6 FBXO7 NM_012179.3(FBXO7): c.1144+1G> T single nucleotide variant Pathogenic rs730880272 GRCh38 Chromosome 22, 32493282: 32493282
7 FBXO7 NM_012179.3(FBXO7): c.65C> T (p.Thr22Met) single nucleotide variant Pathogenic rs121918305 GRCh37 Chromosome 22, 32871054: 32871054
8 FBXO7 NM_012179.3(FBXO7): c.65C> T (p.Thr22Met) single nucleotide variant Pathogenic rs121918305 GRCh38 Chromosome 22, 32475067: 32475067
9 FBXO7 NM_012179.3(FBXO7): c.345G> A (p.Met115Ile) single nucleotide variant Benign rs11107 GRCh37 Chromosome 22, 32875190: 32875190
10 FBXO7 NM_012179.3(FBXO7): c.345G> A (p.Met115Ile) single nucleotide variant Benign rs11107 GRCh38 Chromosome 22, 32479203: 32479203
11 FBXO7 NM_012179.3(FBXO7): c.260T> C (p.Ile87Thr) single nucleotide variant Uncertain significance rs780055842 GRCh38 Chromosome 22, 32479118: 32479118
12 FBXO7 NM_012179.3(FBXO7): c.260T> C (p.Ile87Thr) single nucleotide variant Uncertain significance rs780055842 GRCh37 Chromosome 22, 32875105: 32875105
13 FBXO7 NM_012179.3(FBXO7): c.1144+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199954341 GRCh37 Chromosome 22, 32889277: 32889277
14 FBXO7 NM_012179.3(FBXO7): c.1144+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199954341 GRCh38 Chromosome 22, 32493290: 32493290
15 FBXO7 NM_012179.3(FBXO7): c.122+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs192327462 GRCh38 Chromosome 22, 32475133: 32475133
16 FBXO7 NM_012179.3(FBXO7): c.122+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs192327462 GRCh37 Chromosome 22, 32871120: 32871120
17 FBXO7 NM_012179.3(FBXO7): c.949C> T (p.Leu317=) single nucleotide variant Benign rs9726 GRCh38 Chromosome 22, 32491163: 32491163
18 FBXO7 NM_012179.3(FBXO7): c.949C> T (p.Leu317=) single nucleotide variant Benign rs9726 GRCh37 Chromosome 22, 32887150: 32887150
19 FBXO7 NM_012179.3(FBXO7): c.540A> G (p.Pro180=) single nucleotide variant Benign/Likely benign rs41311141 GRCh38 Chromosome 22, 32484019: 32484019
20 FBXO7 NM_012179.3(FBXO7): c.540A> G (p.Pro180=) single nucleotide variant Benign/Likely benign rs41311141 GRCh37 Chromosome 22, 32880006: 32880006
21 FBXO7 NM_012179.3(FBXO7): c.693C> T (p.Ser231=) single nucleotide variant Conflicting interpretations of pathogenicity rs61752254 GRCh38 Chromosome 22, 32485115: 32485115
22 FBXO7 NM_012179.3(FBXO7): c.693C> T (p.Ser231=) single nucleotide variant Conflicting interpretations of pathogenicity rs61752254 GRCh37 Chromosome 22, 32881102: 32881102
23 FBXO7 NM_012179.3(FBXO7): c.1546G> C (p.Asp516His) single nucleotide variant Uncertain significance rs34316445 GRCh37 Chromosome 22, 32894494: 32894494
24 FBXO7 NM_012179.3(FBXO7): c.1546G> C (p.Asp516His) single nucleotide variant Uncertain significance rs34316445 GRCh38 Chromosome 22, 32498507: 32498507
25 FBXO7 NM_012179.3(FBXO7): c.151delA (p.Asn51Thrfs) deletion Pathogenic GRCh37 Chromosome 22, 32874996: 32874996
26 FBXO7 NM_012179.3(FBXO7): c.151delA (p.Asn51Thrfs) deletion Pathogenic GRCh38 Chromosome 22, 32479009: 32479009
27 FBXO7 NM_001033024.1(FBXO7): c.35T> G (p.Leu12Arg) single nucleotide variant Benign rs8137714 GRCh38 Chromosome 22, 32475396: 32475396
28 FBXO7 NM_001033024.1(FBXO7): c.35T> G (p.Leu12Arg) single nucleotide variant Benign rs8137714 GRCh37 Chromosome 22, 32871383: 32871383
29 FBXO7 NM_012179.3(FBXO7): c.601G> A (p.Val201Met) single nucleotide variant Likely benign rs61730783 GRCh37 Chromosome 22, 32880067: 32880067
30 FBXO7 NM_012179.3(FBXO7): c.601G> A (p.Val201Met) single nucleotide variant Likely benign rs61730783 GRCh38 Chromosome 22, 32484080: 32484080

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 ATP13A2 FBXO7 PRKN SNCA
2 11.08 PRKN SNCA
3 10.46 PRKN SNCA

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 9.5 C19orf12 FBXO7 PANK2 PLA2G6 PRKN SNCA
2 mitochondrial intermembrane space GO:0005758 9.26 PANK2 SNCA
3 SCF ubiquitin ligase complex GO:0019005 9.16 FBXO7 PRKN
4 mitochondrion GO:0005739 9.1 C19orf12 FBXO7 PANK2 PLA2G6 PRKN SNCA

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cellular response to oxidative stress GO:0034599 9.6 ATP13A2 SNCA
2 response to endoplasmic reticulum stress GO:0034976 9.59 PLA2G6 PRKN
3 regulation of protein stability GO:0031647 9.58 FBXO7 PRKN
4 negative regulation of protein phosphorylation GO:0001933 9.58 PRKN SNCA
5 adult locomotory behavior GO:0008344 9.57 PRKN SNCA
6 protein destabilization GO:0031648 9.56 PRKN SNCA
7 autophagy of mitochondrion GO:0000422 9.55 FBXO7 PRKN
8 regulation of dopamine secretion GO:0014059 9.54 PRKN SNCA
9 regulation of mitochondrial membrane potential GO:0051881 9.52 PANK2 PRKN
10 regulation of reactive oxygen species metabolic process GO:2000377 9.51 PRKN SNCA
11 regulation of neurotransmitter secretion GO:0046928 9.49 PRKN SNCA
12 synaptic transmission, dopaminergic GO:0001963 9.48 PRKN SNCA
13 regulation of mitochondrion organization GO:0010821 9.46 ATP13A2 PRKN
14 dopamine metabolic process GO:0042417 9.43 PRKN SNCA
15 synaptic vesicle transport GO:0048489 9.4 SNCA SPG11
16 cellular response to manganese ion GO:0071287 9.37 ATP13A2 PRKN
17 regulation of locomotion GO:0040012 9.32 FBXO7 SNCA
18 positive regulation of autophagy of mitochondrion GO:1903599 9.26 FBXO7 PRKN
19 zinc ion homeostasis GO:0055069 9.16 ATP13A2 PRKN
20 dopamine uptake involved in synaptic transmission GO:0051583 8.96 PRKN SNCA
21 negative regulation of neuron death GO:1901215 8.92 ATP13A2 FBXO7 PRKN SNCA

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 protein kinase binding GO:0019901 9.43 FBXO7 PLA2G6 PRKN
2 ubiquitin binding GO:0043130 9.16 FBXO7 PRKN
3 Hsp70 protein binding GO:0030544 8.96 PRKN SNCA
4 phospholipase binding GO:0043274 8.62 PRKN SNCA

Sources for Parkinson Disease 15, Autosomal Recessive Early-Onset

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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