PARK15
MCID: PRK027
MIFTS: 46

Parkinson Disease 15, Autosomal Recessive (PARK15) malady

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

Aliases & Classifications for Parkinson Disease 15, Autosomal Recessive

Aliases & Descriptions for Parkinson Disease 15, Autosomal Recessive:

Name: Parkinson Disease 15, Autosomal Recessive 54 13 69
Pallidopyramidal Syndrome 12 50 56 66
Parkinsonian-Pyramidal Syndrome 12 56 66
Autosomal Recessive Early-Onset Parkinson Disease 15 12 14
Parkinson Disease 15 66 29
Parkinson Disease 15 Autosomal Recessive 66
Pallido-Pyramidal Syndrome 66
Pallido-Pyramidal Disease 50
Park15 66
Pkps 66
Pps 66

Characteristics:

Orphanet epidemiological data:

56
parkinsonian-pyramidal syndrome
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult;

HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 260300
Disease Ontology 12 DOID:0060372
Orphanet 56 ORPHA171695
ICD10 via Orphanet 34 G20
MedGen 40 C1850100
MeSH 42 D020734

Summaries for Parkinson Disease 15, Autosomal Recessive

UniProtKB/Swiss-Prot : 66 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, also known as pallidopyramidal syndrome, is related to popliteal pterygium syndrome 1 and postpoliomyelitis syndrome, and has symptoms including tremor, abnormality of extrapyramidal motor function and dystonia. An important gene associated with Parkinson Disease 15, Autosomal Recessive is FBXO7 (F-Box Protein 7), and among its related pathways/superpathways are Chks in Checkpoint Regulation and CLEC7A (Dectin-1) signaling. Affiliated tissues include eye, and related phenotypes are behavior/neurological and cellular

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

Diseases in the Parkinson Disease, Late-Onset family:

Parkinson Disease 7, Autosomal Recessive Early-Onset Parkinson Disease 6, Early Onset
Parkinson Disease 19, Juvenile-Onset Parkinson Disease 10
Parkinson Disease 16 Parkinson Disease 13
Parkinson Disease 11 Parkinson Disease 21
Parkinson Disease 18 Parkinson Disease 5
Parkinson Disease 4 Parkinson Disease 1
Parkinson Disease, Juvenile, Type 2 Parkinson Disease 8
Parkinson Disease 17 Parkinson Disease 20, Early-Onset
Parkinson Disease 15, Autosomal Recessive Parkinson Disease 14, Autosomal Recessive
Parkinson Disease 12 Juvenile Onset Parkinson Disease 19a
Juvenile-Onset Parkinson Disease Early-Onset Parkinson Disease
Lrrk2-Related Parkinson Disease Parkinson Disease Type 3
Parkinson Disease Type 9 Dnajc6-Related Parkinson Disease
Eif4g1-Related Parkinson Disease Gigyf2-Related Parkinson Disease
Pla2g6-Related Parkinson Disease Synj1-Related Parkinson Disease
Fbxo7-Related Parkinson Disease Htra2-Related Parkinson Disease
Park7-Related Parkinson Disease Snca-Related Parkinson Disease
Vps35-Related Parkinson Disease Hereditary Late-Onset Parkinson Disease
Parkinson Disease 22 Parkinson Disease 23, Autosomal Recessive, Early Onset

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

(show top 50) (show all 86)
id Related Disease Score Top Affiliating Genes
1 popliteal pterygium syndrome 1 11.6
2 postpoliomyelitis syndrome 11.3
3 fbxo7-related parkinson disease 11.1
4 irf6-related disorders 11.0
5 parkinson disease, late-onset 10.9
6 normokalemic periodic paralysis 10.8
7 popliteal pterygium syndrome 2, lethal type 10.8
8 pellagra 10.8
9 glucose/galactose malabsorption 10.2 FBXO7 PANK2 PLA2G6
10 waldenstroem's macroglobulinemia 10.2 ATP13A2 FBXO7 PANK2 PLA2G6
11 multiple system atrophy 10.2 PARK7 PINK1 SNCA
12 chondrodysplasia punctata, x-linked dominant 10.2 C19orf12 PANK2 PLA2G6
13 herpes simplex encephalitis 7 10.1 C19orf12 PANK2 PLA2G6
14 pachyonychia congenita 1 10.1 C19orf12 PANK2 PLA2G6
15 corneal endothelial dystrophy 2, autosomal recessive 10.1 C19orf12 PANK2 PLA2G6 SNCA
16 pupil disease 10.1 PANK2 PLA2G6 SNCA
17 hirschsprung disease 7 10.1 C19orf12 PANK2 PLA2G6
18 lethal congenital contracture syndrome 8 10.1 LRRK2 PARK7 PINK1 SNCA
19 plekhm1-related autosomal recessive osteopetrosis 10.1 ATP13A2 LRRK2 PARK7 SNCA
20 parkinson disease 6, early onset 10.1 ATP13A2 LRRK2 PARK7 PINK1
21 kufor-rakeb syndrome 10.1 ATP13A2 FBXO7 PARK7 PINK1 PLA2G6
22 parkinson disease 14, autosomal recessive 10.1 ATP13A2 C19orf12 FBXO7 PANK2 PLA2G6
23 hereditary spastic paraplegia 51 10.1 ATP13A2 C19orf12 PANK2 PLA2G6 SNCA
24 meier-gorlin syndrome 5 10.0 LRRK2 PARK7 SNCA TH
25 rubinstein-taybi syndrome 2 10.0 PINK1 PRKN
26 pancreatitis 10.0
27 thrombosis 10.0 ATP13A2 LRRK2 PARK7 PINK1 PLA2G6 SNCA
28 blepharospasm 10.0
29 spink1-related hereditary pancreatitis 9.9 LRRK2 PARK7 PRKN SNCA
30 substance-induced psychosis 9.9 LRRK2 PARK7 PINK1 SNCA TH
31 autism 19 9.9 LRRK2 SNCA TH
32 epithelioid type angiomyolipoma 9.9 LRRK2 PINK1 SNCA TH
33 ceroid lipofuscinosis, neuronal, 1 9.9 LRRK2 PARK7 PINK1 PRKN SNCA
34 trichothiodystrophy 3, photosensitive 9.9 LRRK2 PARK7 PINK1 PRKN SNCA
35 hypoproteinemia, hypercatabolic 9.9 LRRK2 PARK7 PINK1 PRKN SNCA
36 myositis 9.8
37 inclusion body myositis 9.8
38 coenzyme q10 deficiency, primary, 1 9.8 LRRK2 PARK7 PRKN SNCA TH
39 cerebritis 9.8
40 hemochromatosis, type 2a 9.7 LRRK2 PARK7 PINK1 PRKN SNCA TH
41 breast cancer 9.7
42 neuronitis 9.7
43 pustular psoriasis 9.7
44 psoriasis 9.7
45 kidney cancer 9.7
46 hydrocephalus 9.7
47 walker-warburg syndrome 9.7
48 gallbladder adenoma 9.7 ATP13A2 LRRK2 PARK7 PINK1 PRKN SNCA
49 cavernous hemangioma 9.7 LRRK2 PANK2 PARK7 PINK1 PRKN SNCA
50 myelomeningocele 9.5

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



Diseases related to Parkinson Disease 15, Autosomal Recessive

Symptoms & Phenotypes for Parkinson Disease 15, Autosomal Recessive

Symptoms by clinical synopsis from OMIM:

260300

Clinical features from OMIM:

260300

Human phenotypes related to Parkinson Disease 15, Autosomal Recessive:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 tremor 32 HP:0001337
2 abnormality of extrapyramidal motor function 32 HP:0002071
3 dystonia 32 HP:0001332
4 bradykinesia 32 HP:0002067
5 dysarthria 32 HP:0001260
6 hyperreflexia 32 HP:0001347
7 babinski sign 32 HP:0003487
8 rigidity 32 HP:0002063
9 talipes equinovarus 32 HP:0001762
10 postural instability 32 HP:0002172
11 slow saccadic eye movements 32 HP:0000514
12 lower limb spasticity 32 HP:0002061
13 parkinsonism with favorable response to dopaminergic medication 32 HP:0002548
14 scissor gait 32 HP:0012407

UMLS symptoms related to Parkinson Disease 15, Autosomal Recessive:


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

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 PLA2G6 PRKN SNCA SPG11 TH ATP13A2
2 cellular MP:0005384 9.7 ATP13A2 CUL1 LRRK2 PANK2 PARK7 PINK1
3 nervous system MP:0003631 9.36 ATP13A2 LRRK2 NHLH1 PANK2 PARK7 PINK1

Drugs & Therapeutics for Parkinson Disease 15, Autosomal Recessive

Interventional clinical trials:


id Name Status NCT ID Phase
1 Clinical, Molecular and by Neuroimaging of LRRK2 Mutations Unknown status NCT01085227
2 Hereditary Parkinson s Disease Natural History Protocol Recruiting NCT02511015

Search NIH Clinical Center for Parkinson Disease 15, Autosomal Recessive

Genetic Tests for Parkinson Disease 15, Autosomal Recessive

Genetic tests related to Parkinson Disease 15, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Parkinson Disease 15 29

Anatomical Context for Parkinson Disease 15, Autosomal Recessive

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

39
Eye

Publications for Parkinson Disease 15, Autosomal Recessive

Variations for Parkinson Disease 15, Autosomal Recessive

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

66
id Symbol AA change Variation ID SNP ID
1 FBXO7 p.Arg378Gly VAR_047938 rs71799110

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

6
id 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.1492C> T (p.Arg498Ter) single nucleotide variant Pathogenic rs121918304 GRCh37 Chromosome 22, 32894440: 32894440
3 FBXO7 NM_012179.3(FBXO7): c.1144+1G> T single nucleotide variant Pathogenic rs730880272 GRCh37 Chromosome 22, 32889269: 32889269
4 FBXO7 NM_012179.3(FBXO7): c.65C> T (p.Thr22Met) single nucleotide variant Pathogenic rs121918305 GRCh37 Chromosome 22, 32871054: 32871054

Expression for Parkinson Disease 15, Autosomal Recessive

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

Pathways for Parkinson Disease 15, Autosomal Recessive

GO Terms for Parkinson Disease 15, Autosomal Recessive

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.96 C19orf12 FBXO7 LRRK2 PANK2 PARK7 PINK1
2 neuron projection GO:0043005 9.8 ATP13A2 LRRK2 PARK7 PRKN TH
3 synaptic vesicle GO:0008021 9.69 LRRK2 SNCA TH
4 ubiquitin ligase complex GO:0000151 9.67 FBXO7 PINK1 PRKN
5 mitochondrial intermembrane space GO:0005758 9.63 PANK2 PARK7 PINK1
6 axon GO:0030424 9.63 LRRK2 PARK7 PINK1 SNCA SPG11 TH
7 terminal bouton GO:0043195 9.61 LRRK2 SNCA TH
8 cytosol GO:0005829 9.53 C19orf12 CUL1 FBXO7 LRRK2 PANK2 PARK7
9 Lewy body GO:0097413 9.37 PINK1 PRKN
10 Parkin-FBXW7-Cul1 ubiquitin ligase complex GO:1990452 9.32 CUL1 PRKN
11 SCF ubiquitin ligase complex GO:0019005 9.26 CUL1 FBXO7 PRKN SKP1
12 cytoplasm GO:0005737 10.32 FBXO7 LRRK2 PANK2 PARK7 PINK1 PLA2G6

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

(show top 50) (show all 61)
id Name GO ID Score Top Affiliating Genes
1 T cell receptor signaling pathway GO:0050852 9.97 CUL1 PSMA2 PSMF1 SKP1
2 negative regulation of neuron apoptotic process GO:0043524 9.96 PARK7 PINK1 PRKN SNCA
3 response to oxidative stress GO:0006979 9.95 C19orf12 LRRK2 PINK1 PRKN
4 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.95 CUL1 PSMA2 PSMF1 SKP1
5 autophagy GO:0006914 9.95 C19orf12 LRRK2 PARK7 PINK1 PRKN
6 protein polyubiquitination GO:0000209 9.95 CUL1 FBXO7 PRKN PSMA2 PSMF1 SKP1
7 mitochondrion organization GO:0007005 9.91 LRRK2 PARK7 PINK1 PRKN
8 positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition GO:0051437 9.9 CUL1 PSMA2 PSMF1 SKP1
9 anaphase-promoting complex-dependent catabolic process GO:0031145 9.89 PSMA2 PSMF1 UBE2S
10 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.89 PARK7 PINK1 SNCA
11 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.88 CUL1 PSMA2 PSMF1 SKP1
12 negative regulation of protein phosphorylation GO:0001933 9.88 LRRK2 PARK7 PRKN SNCA
13 adult locomotory behavior GO:0008344 9.87 PARK7 PRKN SNCA
14 cellular iron ion homeostasis GO:0006879 9.87 ATP13A2 CUL1 SKP1
15 NIK/NF-kappaB signaling GO:0038061 9.87 CUL1 PSMA2 PSMF1 SKP1
16 ubiquitin-dependent protein catabolic process GO:0006511 9.85 CUL1 FBXO7 PINK1 PSMA2 PSMF1 SKP1
17 negative regulation of G2/M transition of mitotic cell cycle GO:0010972 9.83 CUL1 PSMA2 PSMF1 SKP1
18 mitophagy GO:0000422 9.81 FBXO7 PINK1 PRKN
19 cellular response to oxidative stress GO:0034599 9.8 ATP13A2 LRRK2 PARK7 PINK1 SNCA
20 regulation of reactive oxygen species metabolic process GO:2000377 9.79 PINK1 PRKN SNCA
21 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.77 LRRK2 PARK7 PRKN
22 regulation of neurotransmitter secretion GO:0046928 9.73 PRKN SNCA
23 regulation of protein ubiquitination GO:0031396 9.73 PINK1 PRKN
24 positive regulation of mitochondrial fission GO:0090141 9.73 PINK1 PRKN
25 regulation of mitochondrion organization GO:0010821 9.73 ATP13A2 PINK1 PRKN
26 regulation of mitochondrial membrane potential GO:0051881 9.73 PANK2 PARK7 PINK1 PRKN
27 cellular response to dopamine GO:1903351 9.72 LRRK2 PRKN
28 dopamine metabolic process GO:0042417 9.72 PRKN SNCA
29 negative regulation of macroautophagy GO:0016242 9.72 LRRK2 PINK1
30 negative regulation of autophagosome assembly GO:1902902 9.72 LRRK2 PINK1
31 synaptic vesicle transport GO:0048489 9.72 SNCA SPG11
32 dopamine biosynthetic process GO:0042416 9.71 SNCA TH
33 mitophagy in response to mitochondrial depolarization GO:0098779 9.71 PINK1 PRKN
34 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.71 LRRK2 PARK7
35 negative regulation of oxidative stress-induced neuron death GO:1903204 9.71 FBXO7 PARK7 PINK1
36 protein K6-linked ubiquitination GO:0085020 9.7 PRKN UBE2S
37 cellular response to toxic substance GO:0097237 9.7 PINK1 PRKN
38 regulation of protein targeting to mitochondrion GO:1903214 9.7 PINK1 PRKN
39 protein localization to mitochondrion GO:0070585 9.69 LRRK2 PRKN
40 positive regulation of mitophagy GO:1903599 9.69 FBXO7 PARK7 PRKN
41 SCF complex assembly GO:0010265 9.68 CUL1 SKP1
42 zinc ion homeostasis GO:0055069 9.68 ATP13A2 PRKN
43 protein K29-linked ubiquitination GO:0035519 9.68 PRKN UBE2S
44 protein K27-linked ubiquitination GO:0044314 9.67 PRKN UBE2S
45 free ubiquitin chain polymerization GO:0010994 9.67 PRKN UBE2S
46 regulation of locomotion GO:0040012 9.67 FBXO7 LRRK2 SNCA
47 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.66 PARK7 PRKN
48 regulation of cellular response to oxidative stress GO:1900407 9.64 PINK1 PRKN
49 mitochondrion to lysosome transport GO:0099074 9.64 PINK1 PRKN
50 negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway GO:1903384 9.63 PARK7 PINK1

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

id Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase activity GO:0061630 9.62 CUL1 PRKN SKP1 UBE2S
2 ubiquitin-protein transferase activity GO:0004842 9.55 CUL1 FBXO7 PRKN SKP1 UBE2S
3 phospholipase binding GO:0043274 9.43 PRKN SNCA
4 cullin family protein binding GO:0097602 9.4 PRKN SKP1
5 ubiquitin-specific protease binding GO:1990381 9.37 PARK7 PRKN
6 ubiquitin protein ligase binding GO:0031625 9.35 CUL1 FBXO7 PINK1 PRKN UBE2S
7 cuprous ion binding GO:1903136 9.26 PARK7 SNCA
8 cupric ion binding GO:1903135 8.62 ATP13A2 PARK7

Sources for Parkinson Disease 15, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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