PARK15
MCID: PRK086
MIFTS: 52

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

Categories: Eye diseases, 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 20 58 72
Parkinsonian-Pyramidal Syndrome 57 12 58 72
Parkinson Disease 15, Autosomal Recessive 57 13 70
Parkinson Disease 15 72 29 6
Pallido-Pyramidal Syndrome 57 72
Parkinson's Disease 15 12 15
Park15 57 72
Pkps 57 72
Autosomal Recessive Early-Onset Parkinson's Disease 15 12
Autosomal Recessive Early-Onset Parkinson Disease 15 12
Parkinson Disease 15 Autosomal Recessive 72
Parkinsonian-Pyramidal Syndrome; Pkps 57
Parkinson Disease, Type 15 39
Pallido-Pyramidal Disease 20
Pps 72

Characteristics:

Orphanet epidemiological data:

58
parkinsonian-pyramidal syndrome
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
parkinson disease 15, autosomal recessive early-onset:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression young adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Parkinson Disease 15, Autosomal Recessive Early-Onset

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171695 Definition Parkinsonian-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 ).

MalaCards based summary : Parkinson Disease 15, Autosomal Recessive Early-Onset, also known as pallidopyramidal syndrome, is related to multiple system atrophy 1 and parkinsonism, 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 Prion disease and Neuroscience. The drugs Hyaluronic acid and Anesthetics have been mentioned in the context of this disorder. 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 : 72 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
Vps35-Related Parkinson Disease 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 132)
# Related Disease Score Top Affiliating Genes
1 multiple system atrophy 1 30.2 SNCA PRKN LRRK2
2 parkinsonism 30.1 SNCA PINK1 PARK7 LRRK2
3 parkinson disease 1, autosomal dominant 30.1 SNCA PRKN LRRK2 ATP13A2
4 dystonia 29.0 PRKN PLA2G6 PINK1 PARK7 PANK2 LRRK2
5 amyotrophic lateral sclerosis 1 28.9 SPG11 SNCA PRKN PINK1 PARK7 LRRK2
6 early-onset parkinson's disease 28.8 SNCA PRKN PLA2G6 PINK1 PARK7 PANK2
7 parkinson disease, late-onset 28.3 VPS35 SNCA PRKN PLA2G6 PINK1 PARK7
8 kufor-rakeb syndrome 28.1 VPS35 SNCA PRKN PLA2G6 PINK1 PARK7
9 popliteal pterygium syndrome 11.6
10 postpoliomyelitis syndrome 11.4
11 irf6-related disorders 11.1
12 van der woude syndrome 1 10.9
13 bartsocas-papas syndrome 10.9
14 juvenile-onset parkinson's disease 10.2 SNCA PRKN ATP13A2
15 spastic paraplegia 76, autosomal recessive 10.2 SPG11 ATP13A2
16 von economo's disease 10.2 SNCA LRRK2
17 parkinson disease 6, autosomal recessive early-onset 10.2 PINK1 PARK7
18 alzheimer disease 8 10.2 PARK7 LRRK2
19 hereditary spastic paraplegia 30 10.2 SPG11 FA2H
20 neuropathy, hereditary sensory, type iic 10.2 SPG11 FA2H
21 radial nerve lesion 10.1 PRKN LRRK2
22 ophthalmomyiasis 10.1 PRKN LRRK2
23 optic atrophy 1 10.1 PRKN PINK1 PARK7
24 complex hereditary spastic paraplegia 10.1 SPG11 FA2H ATP13A2
25 cerebral degeneration 10.1 SNCA PLA2G6 FA2H
26 spastic paraplegia 18, autosomal recessive 10.1 SPG11 FA2H
27 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 10.1 SNCA PARK7 LRRK2
28 ulnar nerve lesion 10.1 PRKN LRRK2
29 spastic paraplegia 11, autosomal recessive 10.1
30 blepharospasm 10.1
31 parkinson disease 17 10.1 VPS35 SNCA PARK7
32 essential tremor 10.0 SNCA PRKN LRRK2
33 kaposi sarcoma 10.0
34 cleft lip 10.0
35 cleft lip/palate 10.0
36 spastic paraplegia 28, autosomal recessive 10.0 SPG11 FA2H
37 paraplegia 10.0 SPG11 FA2H C19orf12 ATP13A2
38 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.0 SPG11 SNCA LRRK2
39 spasticity 10.0
40 neurodegeneration with brain iron accumulation 4 10.0 PLA2G6 PANK2 FA2H C19orf12
41 tremor 10.0 SNCA PRKN LRRK2 C19orf12
42 rem sleep behavior disorder 10.0 SNCA PRKN PINK1 LRRK2
43 spastic paraplegia 43, autosomal recessive 10.0 SPG11 PLA2G6 FA2H C19orf12
44 cerebellar disease 10.0 SNCA PRKN PINK1
45 hereditary late-onset parkinson disease 10.0 VPS35 SNCA LRRK2
46 parkinson disease 21 10.0 VPS35 PRKN LRRK2
47 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
48 peters-plus syndrome 10.0
49 acute cystitis 10.0
50 substance abuse 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:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 parkinsonism 58 31 obligate (100%) Obligate (100%) HP:0001300
2 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
3 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
4 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
5 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
6 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
7 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
8 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
9 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
10 rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002063
11 intention tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002080
12 visual hallucinations 58 31 frequent (33%) Frequent (79-30%) HP:0002367
13 neurogenic bladder 58 31 frequent (33%) Frequent (79-30%) HP:0000011
14 postural instability 58 31 frequent (33%) Frequent (79-30%) HP:0002172
15 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
16 slow saccadic eye movements 58 31 frequent (33%) Frequent (79-30%) HP:0000514
17 shuffling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002362
18 hypomimic face 58 31 frequent (33%) Frequent (79-30%) HP:0000338
19 monotonic speech 58 31 frequent (33%) Frequent (79-30%) HP:0031435
20 substantia nigra gliosis 58 31 frequent (33%) Frequent (79-30%) HP:0011960
21 abnormal autonomic nervous system physiology 31 frequent (33%) HP:0012332
22 dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000726
23 lewy bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0100315
24 abnormal pyramidal sign 58 Obligate (100%)
25 dysarthria 31 HP:0001260
26 tremor 31 HP:0001337
27 dysautonomia 58 Frequent (79-30%)
28 cognitive impairment 58 Frequent (79-30%)
29 abnormality of extrapyramidal motor function 31 HP:0002071
30 lower limb spasticity 31 HP:0002061
31 parkinsonism with favorable response to dopaminergic medication 31 HP:0002548
32 scissor gait 31 HP:0012407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
tremor
dystonia
rigidity
more
Skeletal Feet:
pes equinovarus

Head And Neck Eyes:
slow saccades
reduced upgaze

Voice:
monotone speech

Clinical features from OMIM®:

260300 (Updated 05-Apr-2021)

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 10.07 ATP13A2 FA2H FBXO7 GAK LRRK2 PANK2
2 cellular MP:0005384 9.97 ATP13A2 FBXO7 GAK LRRK2 PANK2 PARK7
3 homeostasis/metabolism MP:0005376 9.77 ATP13A2 FA2H FBXO7 GAK LRRK2 PANK2
4 nervous system MP:0003631 9.4 ATP13A2 FA2H GAK LRRK2 PANK2 PARK7

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

Drugs for Parkinson Disease 15, Autosomal Recessive Early-Onset (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
2 Anesthetics
3 Anti-Inflammatory Agents
4 Protective Agents
5 Immunologic Factors
6 Adjuvants, Immunologic
7 Viscosupplements

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Topical Anesthesia for Closed PKP vs Retrobulbar Anesthesia for Open-sky PKP Unknown status NCT02826174 Anti-Rejection Agents;Anti-Inflammatory Agents
2 A Prospective Study of the Effect of Topical Sodium Hyaluronate Immediately Post-PKP on Time to Reepithelialization Completed NCT00570648 sodium hyaluronate
3 Prevention of Residual Low Back Pain After Percutaneous Kyphosis(PKP) Using Posterior Branch Block of Spinal Nerve Completed NCT04108507
4 Trends in Corneal Transplantation From 2001 to 2016 in Germany: A Report of the DOG-Section Cornea and Its Keratoplasty Registry Completed NCT03381794
5 Comparison of Kyphoplasty With and Without Rotary Cutter Subacute Osteoporotic Vertebral Fractures Recruiting NCT03850938

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:

40
Eye

Publications for Parkinson Disease 15, Autosomal Recessive Early-Onset

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

(show all 12)
# Title Authors PMID Year
1
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. 57 6
19038853 2009
2
Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays. 57 6
18513678 2008
3
Pallido-pyramidal syndrome: a rare entity. 57
17337817 2007
4
Pallido-pyramidal syndrome with blepharospasm and good response to levodopa. 57
16362831 2005
5
Familial levodopa-responsive parkinsonian-pyramidal syndrome. 57
7845409 1994
6
Pallido-pyramidal syndrome treated with levodopa. 57
1151403 1975
7
Familial progressive pallidum atrophy. 57
5444533 1970
8
[Progressive pallidal atrophy]. 57
5644941 1968
9
[CLINICAL CONTRIBUTION TO THE PATHOLOGICAL ASPECT OF PROGRESSIVE ATROPHY OF THE PALLIDUM (VAN BOGAERT)]. 57
14052483 1963
10
Pallido-pyramidal disease. 57
13118374 1954
11
Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike. 61
29983692 2018
12
Pseudobulbar palsy: a clinical computed tomography study. 61
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 top 50) (show all 67)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBXO7 NM_012179.4(FBXO7):c.1132C>G (p.Arg378Gly) SNV Pathogenic 4808 rs71799110 GRCh37: 22:32889256-32889256
GRCh38: 22:32493269-32493269
2 FBXO7 NM_012179.4(FBXO7):c.1492C>T (p.Arg498Ter) SNV Pathogenic 4809 rs121918304 GRCh37: 22:32894440-32894440
GRCh38: 22:32498453-32498453
3 FBXO7 NM_012179.4(FBXO7):c.65C>T (p.Thr22Met) SNV Pathogenic 4811 rs121918305 GRCh37: 22:32871054-32871054
GRCh38: 22:32475067-32475067
4 FBXO7 NM_012179.4(FBXO7):c.1206_1207dup (p.Arg403fs) Duplication Pathogenic 641981 rs749019340 GRCh37: 22:32894152-32894153
GRCh38: 22:32498165-32498166
5 FBXO7 NM_012179.4(FBXO7):c.1144+1G>T SNV Pathogenic 4810 rs730880272 GRCh37: 22:32889269-32889269
GRCh38: 22:32493282-32493282
6 FBXO7 NM_012179.4(FBXO7):c.152del (p.Asn51fs) Deletion Pathogenic 488517 rs1228608709 GRCh37: 22:32874996-32874996
GRCh38: 22:32479009-32479009
7 FBXO7 NM_012179.4(FBXO7):c.1546G>C (p.Asp516His) SNV Conflicting interpretations of pathogenicity 444586 rs34316445 GRCh37: 22:32894494-32894494
GRCh38: 22:32498507-32498507
8 FBXO7 NM_012179.4(FBXO7):c.693C>T (p.Ser231=) SNV Conflicting interpretations of pathogenicity 341312 rs61752254 GRCh37: 22:32881102-32881102
GRCh38: 22:32485115-32485115
9 FBXO7 NM_012179.4(FBXO7):c.122+9G>A SNV Conflicting interpretations of pathogenicity 341307 rs192327462 GRCh37: 22:32871120-32871120
GRCh38: 22:32475133-32475133
10 FBXO7 NM_012179.4(FBXO7):c.1144+9C>T SNV Conflicting interpretations of pathogenicity 341317 rs199954341 GRCh37: 22:32889277-32889277
GRCh38: 22:32493290-32493290
11 FBXO7 NM_012179.4(FBXO7):c.722_723CT[2] (p.Cys243fs) Microsatellite Uncertain significance 631890 rs1290655316 GRCh37: 22:32881131-32881132
GRCh38: 22:32485144-32485145
12 FBXO7 NM_012179.4(FBXO7):c.1263_1267CATTC[3] (p.Tyr425fs) Microsatellite Uncertain significance 631891 rs749534144 GRCh37: 22:32894209-32894210
GRCh38: 22:32498222-32498223
13 FBXO7 NM_012179.4(FBXO7):c.169A>G (p.Thr57Ala) SNV Uncertain significance 640301 rs760306475 GRCh37: 22:32875014-32875014
GRCh38: 22:32479027-32479027
14 FBXO7 NM_012179.4(FBXO7):c.1536_1539del (p.Arg513fs) Deletion Uncertain significance 640811 rs772175765 GRCh37: 22:32894482-32894485
GRCh38: 22:32498495-32498498
15 FBXO7 NM_012179.4(FBXO7):c.*170C>G SNV Uncertain significance 341321 rs186797068 GRCh37: 22:32894687-32894687
GRCh38: 22:32498700-32498700
16 FBXO7 NM_012179.4(FBXO7):c.1505A>G (p.Asn502Ser) SNV Uncertain significance 341318 rs144538200 GRCh37: 22:32894453-32894453
GRCh38: 22:32498466-32498466
17 FBXO7 NM_012179.4(FBXO7):c.-93G>A SNV Uncertain significance 341305 rs886057419 GRCh37: 22:32870897-32870897
GRCh38: 22:32474910-32474910
18 FBXO7 NM_012179.4(FBXO7):c.745A>G (p.Thr249Ala) SNV Uncertain significance 341313 rs749742547 GRCh37: 22:32881154-32881154
GRCh38: 22:32485167-32485167
19 FBXO7 NM_012179.4(FBXO7):c.49C>G (p.Pro17Ala) SNV Uncertain significance 341306 rs886057420 GRCh37: 22:32871038-32871038
GRCh38: 22:32475051-32475051
20 FBXO7 NM_012179.4(FBXO7):c.1527C>A (p.Pro509=) SNV Uncertain significance 341319 rs758609287 GRCh37: 22:32894475-32894475
GRCh38: 22:32498488-32498488
21 FBXO7 NM_012179.4(FBXO7):c.*263A>G SNV Uncertain significance 341322 rs886057422 GRCh37: 22:32894780-32894780
GRCh38: 22:32498793-32498793
22 FBXO7 NM_012179.4(FBXO7):c.-168A>G SNV Uncertain significance 341303 rs886057417 GRCh37: 22:32870822-32870822
GRCh38: 22:32474835-32474835
23 FBXO7 NM_012179.4(FBXO7):c.*47A>T SNV Uncertain significance 341320 rs367714958 GRCh37: 22:32894564-32894564
GRCh38: 22:32498577-32498577
24 FBXO7 NM_012179.4(FBXO7):c.-118T>G SNV Uncertain significance 341304 rs886057418 GRCh37: 22:32870872-32870872
GRCh38: 22:32474885-32474885
25 FBXO7 NM_012179.4(FBXO7):c.*282A>T SNV Uncertain significance 341323 rs886057423 GRCh37: 22:32894799-32894799
GRCh38: 22:32498812-32498812
26 FBXO7 NM_012179.4(FBXO7):c.358C>T (p.Pro120Ser) SNV Uncertain significance 341309 rs191469599 GRCh37: 22:32875203-32875203
GRCh38: 22:32479216-32479216
27 FBXO7 NM_012179.4(FBXO7):c.1054G>A (p.Val352Ile) SNV Uncertain significance 341315 rs762037477 GRCh37: 22:32889178-32889178
GRCh38: 22:32493191-32493191
28 FBXO7 NM_012179.4(FBXO7):c.260T>C (p.Ile87Thr) SNV Uncertain significance 225358 rs780055842 GRCh37: 22:32875105-32875105
GRCh38: 22:32479118-32479118
29 FBXO7 NM_012179.4(FBXO7):c.697G>A (p.Val233Met) SNV Uncertain significance 648239 rs1388222868 GRCh37: 22:32881106-32881106
GRCh38: 22:32485119-32485119
30 FBXO7 NM_012179.4(FBXO7):c.1070C>T (p.Ala357Val) SNV Uncertain significance 652909 rs141068487 GRCh37: 22:32889194-32889194
GRCh38: 22:32493207-32493207
31 FBXO7 NM_012179.4(FBXO7):c.1385G>T (p.Ser462Ile) SNV Uncertain significance 655787 rs149552421 GRCh37: 22:32894333-32894333
GRCh38: 22:32498346-32498346
32 FBXO7 NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala) SNV Uncertain significance 901598 GRCh37: 22:32875122-32875122
GRCh38: 22:32479135-32479135
33 FBXO7 NM_012179.4(FBXO7):c.367T>G (p.Ser123Ala) SNV Uncertain significance 901599 GRCh37: 22:32875212-32875212
GRCh38: 22:32479225-32479225
34 FBXO7 NM_012179.4(FBXO7):c.447G>A (p.Glu149=) SNV Uncertain significance 901600 GRCh37: 22:32879913-32879913
GRCh38: 22:32483926-32483926
35 FBXO7 NM_012179.4(FBXO7):c.957T>C (p.Phe319=) SNV Uncertain significance 903532 GRCh37: 22:32887158-32887158
GRCh38: 22:32491171-32491171
36 FBXO7 NM_012179.4(FBXO7):c.1266T>G (p.Ile422Met) SNV Uncertain significance 899930 GRCh37: 22:32894214-32894214
GRCh38: 22:32498227-32498227
37 FBXO7 NM_012179.4(FBXO7):c.1332C>G (p.Ile444Met) SNV Uncertain significance 899931 GRCh37: 22:32894280-32894280
GRCh38: 22:32498293-32498293
38 FBXO7 NM_012179.4(FBXO7):c.1506T>C (p.Asn502=) SNV Uncertain significance 899932 GRCh37: 22:32894454-32894454
GRCh38: 22:32498467-32498467
39 FBXO7 NM_012179.4(FBXO7):c.1535G>A (p.Gly512Asp) SNV Uncertain significance 706329 rs142471722 GRCh37: 22:32894483-32894483
GRCh38: 22:32498496-32498496
40 FBXO7 NM_012179.4(FBXO7):c.-130C>T SNV Uncertain significance 901044 GRCh37: 22:32870860-32870860
GRCh38: 22:32474873-32474873
41 FBXO7 NM_012179.4(FBXO7):c.-97C>T SNV Uncertain significance 901045 GRCh37: 22:32870893-32870893
GRCh38: 22:32474906-32474906
42 FBXO7 NM_012179.4(FBXO7):c.1552C>T (p.Arg518Trp) SNV Uncertain significance 901100 GRCh37: 22:32894500-32894500
GRCh38: 22:32498513-32498513
43 FBXO7 NM_012179.4(FBXO7):c.*82G>A SNV Uncertain significance 901101 GRCh37: 22:32894599-32894599
GRCh38: 22:32498612-32498612
44 FBXO7 NM_012179.4(FBXO7):c.*104T>C SNV Uncertain significance 901102 GRCh37: 22:32894621-32894621
GRCh38: 22:32498634-32498634
45 FBXO7 NM_012179.4(FBXO7):c.*198T>G SNV Uncertain significance 901103 GRCh37: 22:32894715-32894715
GRCh38: 22:32498728-32498728
46 FBXO7 NM_012179.4(FBXO7):c.1453G>A (p.Val485Ile) SNV Uncertain significance 597905 rs141286570 GRCh37: 22:32894401-32894401
GRCh38: 22:32498414-32498414
47 FBXO7 NM_012179.4(FBXO7):c.274G>C (p.Asp92His) SNV Uncertain significance 341308 rs139135860 GRCh37: 22:32875119-32875119
GRCh38: 22:32479132-32479132
48 FBXO7 NM_012179.4(FBXO7):c.274G>C (p.Asp92His) SNV Uncertain significance 341308 rs139135860 GRCh37: 22:32875119-32875119
GRCh38: 22:32479132-32479132
49 FBXO7 NM_012179.4(FBXO7):c.32C>T (p.Thr11Ile) SNV Uncertain significance 934590 GRCh37: 22:32871021-32871021
GRCh38: 22:32475034-32475034
50 FBXO7 NM_012179.4(FBXO7):c.464C>A (p.Ala155Glu) SNV Uncertain significance 953199 GRCh37: 22:32879930-32879930
GRCh38: 22:32483943-32483943

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

72
# 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
Show member pathways
12.37 SNCA PRKN PINK1 PARK7 LRRK2
2 11.7 SNCA PRKN PINK1 PARK7 LRRK2 FBXO7
3 11.28 SNCA PRKN PINK1 PARK7 LRRK2
4 10.84 SNCA PRKN 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.32 VPS35 SPG11 SNCA SKP1 PSMF1 PRKN
2 endoplasmic reticulum GO:0005783 10.04 PSMF1 PRKN PINK1 PARK7 LRRK2 FA2H
3 cytosol GO:0005829 10.03 VPS35 SPG11 SNCA SKP1 PSMF1 PRKN
4 perinuclear region of cytoplasm GO:0048471 9.91 SNCA PSMF1 PRKN PINK1 PARK7 GAK
5 axon GO:0030424 9.85 SPG11 SNCA PINK1 PARK7 LRRK2
6 presynapse GO:0098793 9.71 SNCA PRKN PARK7 GAK
7 mitochondrion GO:0005739 9.7 VPS35 SNCA SLC25A41 PRKN PLA2G6 PINK1
8 mitochondrial intermembrane space GO:0005758 9.56 SNCA PINK1 PARK7 PANK2
9 Lewy body GO:0097413 9.37 PRKN PINK1
10 mitochondrion-derived vesicle GO:0099073 9.32 VPS35 PRKN
11 SCF ubiquitin ligase complex GO:0019005 9.02 SKP1 PRKN FBXO7 FBXO48 FBXL18

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

(show top 50) (show all 53)
# Name GO ID Score Top Affiliating Genes
1 ubiquitin-dependent protein catabolic process GO:0006511 10.03 SKP1 PSMF1 PRKN PINK1 FBXO7
2 protein polyubiquitination GO:0000209 10.02 SKP1 PSMF1 PRKN FBXO7 FBXL18
3 post-translational protein modification GO:0043687 10.01 SKP1 PSMF1 FBXO7 FBXL18
4 negative regulation of neuron apoptotic process GO:0043524 9.94 SNCA PRKN PINK1 PARK7
5 response to oxidative stress GO:0006979 9.93 PRKN PINK1 LRRK2 C19orf12
6 mitochondrion organization GO:0007005 9.9 PRKN PINK1 PARK7 LRRK2
7 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.89 SKP1 PSMF1 FBXO48 FBXL18
8 regulation of protein stability GO:0031647 9.88 VPS35 PRKN LRRK2 FBXO7
9 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.86 SNCA PINK1 PARK7
10 negative regulation of cell death GO:0060548 9.86 VPS35 PRKN PARK7
11 negative regulation of protein phosphorylation GO:0001933 9.86 SNCA PRKN PARK7 LRRK2
12 adult locomotory behavior GO:0008344 9.84 SNCA PRKN PARK7
13 cellular response to oxidative stress GO:0034599 9.83 SNCA PINK1 PARK7 LRRK2 ATP13A2
14 autophagy of mitochondrion GO:0000422 9.81 PRKN PINK1 FBXO7
15 autophagy GO:0006914 9.8 PRKN PINK1 PARK7 LRRK2 C19orf12 ATP13A2
16 regulation of reactive oxygen species metabolic process GO:2000377 9.76 SNCA PRKN PINK1
17 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.74 PRKN PARK7 LRRK2
18 positive regulation of mitochondrial fission GO:0090141 9.72 VPS35 PRKN PINK1
19 regulation of neuron death GO:1901214 9.71 SNCA LRRK2
20 regulation of neurotransmitter secretion GO:0046928 9.71 SNCA PRKN
21 regulation of protein ubiquitination GO:0031396 9.71 PRKN PINK1
22 negative regulation of autophagosome assembly GO:1902902 9.71 PINK1 LRRK2
23 negative regulation of oxidative stress-induced neuron death GO:1903204 9.71 PINK1 PARK7 FBXO7
24 synaptic vesicle transport GO:0048489 9.7 SPG11 SNCA
25 dopamine metabolic process GO:0042417 9.7 SNCA PRKN
26 regulation of autophagy of mitochondrion GO:1903146 9.7 PINK1 ATP13A2
27 cellular response to dopamine GO:1903351 9.7 PRKN LRRK2
28 synaptic transmission, dopaminergic GO:0001963 9.7 SNCA PRKN PARK7
29 negative regulation of macroautophagy GO:0016242 9.69 PINK1 LRRK2
30 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.69 PARK7 LRRK2
31 negative regulation of oxidative stress-induced cell death GO:1903202 9.69 PRKN PINK1 PARK7
32 regulation of cellular response to oxidative stress GO:1900407 9.68 PRKN PINK1
33 regulation of protein targeting to mitochondrion GO:1903214 9.68 PRKN PINK1
34 protein localization to mitochondrion GO:0070585 9.68 PRKN LRRK2
35 positive regulation of histone deacetylase activity GO:1901727 9.67 PINK1 LRRK2
36 positive regulation of mitophagy in response to mitochondrial depolarization GO:0098779 9.67 PRKN PINK1
37 cellular response to toxic substance GO:0097237 9.67 PRKN PINK1
38 cellular response to manganese ion GO:0071287 9.67 PRKN LRRK2 ATP13A2
39 regulation of mitochondrial membrane potential GO:0051881 9.67 PRKN PINK1 PARK7 PANK2
40 negative regulation of hydrogen peroxide-induced neuron death GO:1903208 9.66 PARK7 FBXO7
41 zinc ion homeostasis GO:0055069 9.65 PRKN ATP13A2
42 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.65 PRKN PARK7
43 positive regulation of dopamine receptor signaling pathway GO:0060161 9.65 VPS35 LRRK2
44 regulation of locomotion GO:0040012 9.65 SNCA LRRK2 FBXO7
45 positive regulation of autophagy of mitochondrion GO:1903599 9.63 PRKN PARK7 FBXO7
46 positive regulation of mitochondrial electron transport, NADH to ubiquinone GO:1902958 9.62 PINK1 PARK7
47 negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway GO:1903384 9.61 PINK1 PARK7
48 negative regulation of late endosome to lysosome transport GO:1902823 9.61 VPS35 LRRK2
49 dopamine uptake involved in synaptic transmission GO:0051583 9.58 SNCA PRKN PARK7
50 regulation of synaptic vesicle transport GO:1902803 9.43 PRKN PINK1 LRRK2

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 ubiquitin-specific protease binding GO:1990381 9.37 PRKN PARK7
2 phospholipase binding GO:0043274 9.32 SNCA PRKN
3 protein binding, bridging involved in substrate recognition for ubiquitination GO:1990756 9.26 SKP1 FBXO7
4 cuprous ion binding GO:1903136 9.16 SNCA PARK7
5 cupric ion binding GO:1903135 8.96 PARK7 ATP13A2
6 F-box domain binding GO:1990444 8.62 SKP1 PRKN

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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