MCID: PRK027
MIFTS: 47

Parkinson Disease 15, Autosomal Recessive

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

Aliases & Classifications for Parkinson Disease 15, Autosomal Recessive

MalaCards integrated aliases for Parkinson Disease 15, Autosomal Recessive:

Name: Parkinson Disease 15, Autosomal Recessive 54 13 69
Pallidopyramidal Syndrome 12 50 56 71
Parkinsonian-Pyramidal Syndrome 12 56 71
Autosomal Recessive Early-Onset Parkinson Disease 15 12 14
Parkinson Disease 15 71 29
Parkinson Disease 15 Autosomal Recessive 71
Pallido-Pyramidal Syndrome 71
Pallido-Pyramidal Disease 50
Park15 71
Pkps 71
Pps 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
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:
Onset and clinical course slow progression young adult onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 260300
Disease Ontology 12 DOID:0060372
Orphanet 56 ORPHA171695
UMLS via Orphanet 70 C1850100
ICD10 via Orphanet 34 G20
MedGen 40 C1850100
MeSH 42 D020734

Summaries for Parkinson Disease 15, Autosomal Recessive

UniProtKB/Swiss-Prot : 71 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 dystonia, dysarthria and tremor. 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 19a, 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 22, Autosomal Dominant
Parkinson Disease 8 Parkinson Disease 23, Autosomal Recessive, Early Onset
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
Early-Onset Parkinson Disease Lrrk2-Related Parkinson Disease
Vps35-Related Parkinson Disease Parkinson Disease Type 3
Parkinson Disease Type 9 Synj1-Related Parkinson Disease
Dnajc6-Related Parkinson Disease Eif4g1-Related Parkinson Disease
Fbxo7-Related Parkinson Disease Gigyf2-Related Parkinson Disease
Htra2-Related Parkinson Disease Park7-Related Parkinson Disease
Pla2g6-Related Parkinson Disease Snca-Related Parkinson Disease
Hereditary Late-Onset Parkinson Disease

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

(show top 50) (show all 92)
id Related Disease Score Top Affiliating Genes
1 popliteal pterygium syndrome 1 11.6
2 postpoliomyelitis syndrome 11.3
3 irf6-related disorders 11.0
4 fbxo7-related parkinson disease 10.8
5 chaotic atrial tachycardia 10.8
6 popliteal pterygium syndrome, bartsocas-papas type 10.8
7 normokalemic periodic paralysis 10.8
8 13q12.3 microdeletion syndrome 10.8 LRRK2 SNCA
9 glucose/galactose malabsorption 10.5 FBXO7 PANK2 PLA2G6
10 pupil disease 10.4 PANK2 PLA2G6 SNCA
11 chondrodysplasia punctata, x-linked dominant 10.4 C19orf12 PANK2 PLA2G6
12 herpes simplex encephalitis 7 10.4 C19orf12 PANK2 PLA2G6
13 autosomal recessive early-onset parksinson disease 23 10.4 ATP13A2 FBXO7 PANK2 PLA2G6
14 naegeli-franceschetti-jadassohn syndrome 10.3 C19orf12 PANK2 PLA2G6
15 spastic paraplegia 43, autosomal recessive 10.3 C19orf12 PANK2 PLA2G6
16 parkinson disease 6, early onset 10.3 PARK7 PINK1
17 corneal endothelial dystrophy, autosomal recessive 10.3 C19orf12 PANK2 PLA2G6 SNCA
18 rubinstein-taybi syndrome 2 10.2 PINK1 PRKN
19 kufor-rakeb syndrome 10.2 ATP13A2 FBXO7 PANK2 PLA2G6 SPG11
20 piebald trait, kit-related 10.2 ATP13A2 LRRK2 PARK7 SNCA
21 sparc-related osteogenesis imperfecta 10.2 LRRK2 PARK7 PRKN SNCA
22 fastkd2-related infantile mitochondrial encephalomyopathy 10.2 C19orf12 LRRK2 PRKN SNCA
23 thyrotropin-releasing hormone deficiency 10.2 LRRK2 PRKN SNCA
24 parkinson disease 14, autosomal recessive 10.1 ATP13A2 C19orf12 FBXO7 PANK2 PLA2G6
25 erb-duchenne and dejerine-klumpke palsies 10.1 PRKN SNCA
26 hereditary spastic paraplegia 3a 10.1 ATP13A2 C19orf12 PANK2 PLA2G6 SNCA
27 pick disease 10.1 LRRK2 PRKN SNCA
28 eumycotic mycetoma 10.0 ATP13A2 PARK7 PRKN SNCA
29 pancreatitis 10.0
30 parietal foramina 3 10.0 LRRK2 PRKN SNCA TH
31 blepharospasm 10.0
32 parkinson disease 10 9.9 LRRK2 PARK7 PINK1 PRKN SNCA
33 celiac disease 12 9.9 LRRK2 PARK7 PINK1 PRKN SNCA
34 mast syndrome 9.9 LRRK2 PARK7 PINK1 PRKN SNCA
35 myositis 9.8
36 inclusion body myositis 9.8
37 supranuclear palsy, progressive atypical 9.8 LRRK2 PARK7 PRKN SNCA TH
38 scrapie 9.8 C19orf12 PANK2 PLA2G6 PRKN TH
39 parkinson disease 1 9.8 LRRK2 PARK7 PRKN SNCA TH
40 cerebritis 9.8
41 breast cancer 9.8
42 hepatic angiomyolipoma 9.8 LRRK2 PINK1 PRKN SNCA TH
43 waldenstroem's macroglobulinemia 9.7 ATP13A2 LRRK2 PARK7 PINK1 PRKN SNCA
44 kidney cancer 9.7
45 psoriasis 9.7
46 hydrocephalus 9.7
47 walker-warburg syndrome 9.7
48 peters-plus syndrome 9.7
49 neuronitis 9.7
50 pustular psoriasis 9.7

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 via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
dystonia
dysarthria
tremor
hyperreflexia
extensor plantar responses
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:

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

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 Drugs
1 Clinical, Molecular and by Neuroimaging of LRRK2 Mutations Unknown status NCT01085227
2 Hereditary Parkinson s Disease Natural History Protocol Completed 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:

71
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 9.95 PARK7 PINK1 PRKN SNCA
3 response to oxidative stress GO:0006979 9.95 C19orf12 LRRK2 PINK1 PRKN
4 autophagy GO:0006914 9.95 C19orf12 LRRK2 PARK7 PINK1 PRKN
5 protein polyubiquitination GO:0000209 9.95 CUL1 FBXO7 PRKN PSMA2 PSMF1 SKP1
6 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.94 CUL1 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 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.89 PARK7 PINK1 SNCA
10 anaphase-promoting complex-dependent catabolic process GO:0031145 9.89 PSMA2 PSMF1 UBE2S
11 cellular iron ion homeostasis GO:0006879 9.88 ATP13A2 CUL1 SKP1
12 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.88 CUL1 PSMA2 PSMF1 SKP1
13 negative regulation of protein phosphorylation GO:0001933 9.88 LRRK2 PARK7 PRKN SNCA
14 ubiquitin-dependent protein catabolic process GO:0006511 9.88 CUL1 FBXO7 PINK1 PSMA2 PSMF1 SKP1
15 adult locomotory behavior GO:0008344 9.87 PARK7 PRKN SNCA
16 NIK/NF-kappaB signaling GO:0038061 9.87 CUL1 PSMA2 PSMF1 SKP1
17 negative regulation of G2/M transition of mitotic cell cycle GO:0010972 9.84 CUL1 PSMA2 PSMF1 SKP1
18 mitophagy GO:0000422 9.83 FBXO7 PINK1 PRKN
19 regulation of reactive oxygen species metabolic process GO:2000377 9.79 PINK1 PRKN SNCA
20 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.77 LRRK2 PARK7 PRKN
21 regulation of neurotransmitter secretion GO:0046928 9.73 PRKN SNCA
22 regulation of protein ubiquitination GO:0031396 9.73 PINK1 PRKN
23 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.73 LRRK2 PARK7
24 regulation of mitochondrion organization GO:0010821 9.73 ATP13A2 PINK1 PRKN
25 positive regulation of mitochondrial fission GO:0090141 9.72 PINK1 PRKN
26 cellular response to dopamine GO:1903351 9.72 LRRK2 PRKN
27 dopamine metabolic process GO:0042417 9.72 PRKN SNCA
28 negative regulation of macroautophagy GO:0016242 9.72 LRRK2 PINK1
29 negative regulation of autophagosome assembly GO:1902902 9.72 LRRK2 PINK1
30 cellular response to oxidative stress GO:0034599 9.72 ATP13A2 LRRK2 PARK7 PINK1 SNCA
31 synaptic vesicle transport GO:0048489 9.71 SNCA SPG11
32 dopamine biosynthetic process GO:0042416 9.71 SNCA TH
33 protein K6-linked ubiquitination GO:0085020 9.71 PRKN UBE2S
34 cellular response to toxic substance GO:0097237 9.7 PINK1 PRKN
35 regulation of protein targeting to mitochondrion GO:1903214 9.7 PINK1 PRKN
36 negative regulation of oxidative stress-induced neuron death GO:1903204 9.7 FBXO7 PARK7 PINK1
37 protein localization to mitochondrion GO:0070585 9.69 LRRK2 PRKN
38 SCF complex assembly GO:0010265 9.69 CUL1 SKP1
39 regulation of locomotion GO:0040012 9.69 FBXO7 LRRK2 SNCA
40 zinc ion homeostasis GO:0055069 9.68 ATP13A2 PRKN
41 protein K27-linked ubiquitination GO:0044314 9.68 PRKN UBE2S
42 mitophagy in response to mitochondrial depolarization GO:0098779 9.68 PINK1 PRKN
43 protein K29-linked ubiquitination GO:0035519 9.67 PRKN UBE2S
44 free ubiquitin chain polymerization GO:0010994 9.67 PRKN UBE2S
45 positive regulation of mitophagy GO:1903599 9.67 FBXO7 PARK7 PRKN
46 regulation of mitochondrial membrane potential GO:0051881 9.67 PANK2 PARK7 PINK1 PRKN
47 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.66 PARK7 PRKN
48 mitochondrion to lysosome transport GO:0099074 9.64 PINK1 PRKN
49 regulation of cellular response to oxidative stress GO:1900407 9.63 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 cullin family protein binding GO:0097602 9.43 PRKN SKP1
4 ubiquitin-specific protease binding GO:1990381 9.4 PARK7 PRKN
5 phospholipase binding GO:0043274 9.37 PRKN SNCA
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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