PARK15
MCID: PRK086
MIFTS: 55

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

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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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
Parkinsonian-Pyramidal Syndrome 57 11 58 73 28 5
Pallidopyramidal Syndrome 57 11 19 58 73
Parkinson Disease 15, Autosomal Recessive 57 12 71
Pallido-Pyramidal Syndrome 57 73
Parkinson's Disease 15 11 14
Park15 57 73
Pkps 57 73
Autosomal Recessive Early-Onset Parkinson's Disease 15 11
Autosomal Recessive Early-Onset Parkinson Disease 15 11
Parkinson Disease 15 Autosomal Recessive 73
Parkinson Disease, Type 15 38
Pallido-Pyramidal Disease 19
Parkinson Disease 15 73
Pps 73

Characteristics:


Inheritance:

Parkinson Disease 15, Autosomal Recessive Early-Onset: Autosomal recessive 57
Parkinsonian-Pyramidal Syndrome: Autosomal recessive 58

Age Of Onset:

Parkinsonian-Pyramidal Syndrome: Adolescent,Adult 58

OMIM®:

57 (Updated 24-Oct-2022)
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


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Parkinson Disease 15, Autosomal Recessive Early-Onset

GARD: 19 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 parkinsonian-pyramidal syndrome, is related to neurodegeneration with brain iron accumulation 2a and parkinson disease 1, autosomal dominant, and has symptoms including muscle rigidity, tremor 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 Autophagy. Affiliated tissues include eye, brain and cortex, and related phenotypes are parkinsonism and spasticity

Orphanet: 58 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).

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 An early-onset Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3.

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
Parkinson Disease 24, Autosomal Dominant 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 156)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 2a 30.4 PLA2G6 PANK2 FA2H C19orf12 ATP13A2
2 parkinson disease 1, autosomal dominant 30.4 SNCA LRRK2
3 multiple system atrophy 1 30.0 SNCA PRKN PINK1 PARK7 LRRK2
4 parkinsonism 29.6 SNCA PRKN PLA2G6 PINK1 PARK7 PANK2
5 amyotrophic lateral sclerosis 1 29.1 VPS35 SPG11 SNCA PRKN PINK1 PARK7
6 dystonia 29.1 SNCA PRKN PLA2G6 PINK1 PARK7 PANK2
7 kufor-rakeb syndrome 28.3 VPS35 SPG11 SNCA PRKN PLA2G6 PINK1
8 early-onset parkinson's disease 28.1 VPS35 SNCA PRKN PLA2G6 PINK1 PARK7
9 parkinson disease, late-onset 28.0 VPS35 SPG11 SNCA SKP1 PRKN PLA2G6
10 popliteal pterygium syndrome 11.6
11 postpoliomyelitis syndrome 11.4
12 bartsocas-papas syndrome 1 11.1
13 alzheimer disease 2 10.3 SNCA PARK7
14 spastic paraplegia 48, autosomal recessive 10.2 SPG11 ATP13A2
15 perry syndrome 10.2 SNCA FBXO7 ATP13A2
16 intellectual developmental disorder, autosomal dominant 55, with seizures 10.2 SNCA LRRK2
17 von economo's disease 10.2 SNCA LRRK2
18 oromandibular dystonia 10.2 PLA2G6 PANK2 C19orf12
19 alcohol-related neurodevelopmental disorder 10.2 PLA2G6 PANK2 C19orf12
20 parkinson disease 6, autosomal recessive early-onset 10.2 PINK1 PARK7
21 neuropathy, hereditary sensory, type iic 10.2 SPG11 FA2H
22 spastic paraplegia 78, autosomal recessive 10.2 SPG11 ATP13A2
23 spastic paraplegia 43, autosomal recessive 10.1 SPG11 FA2H C19orf12
24 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 10.1 SNCA PARK7 LRRK2
25 spastic paraplegia 14, autosomal recessive 10.1 SPG11 FA2H
26 spastic paraplegia 73, autosomal dominant 10.1 SPG11 FA2H
27 paraplegia 10.1 SPG11 FA2H C19orf12 ATP13A2
28 parkinsonism with spasticity, x-linked 10.1 DNAJC13 ATP13A2
29 tremor 10.1 SNCA PRKN LRRK2 C19orf12
30 homocarnosinosis 10.1
31 spastic paraplegia 11, autosomal recessive 10.1
32 blepharospasm, benign essential 10.1
33 blepharospasm 10.1
34 kaposi sarcoma 10.0
35 oculodentodigital dysplasia 10.0
36 fanconi anemia, complementation group e 10.0
37 urinary tract infection 10.0
38 melanoma 10.0
39 cleft lip 10.0
40 cleft lip/palate 10.0
41 spastic paraplegia 54, autosomal recessive 10.0 SPG11 FA2H
42 cerebral degeneration 10.0 SNCA PLA2G6 PANK2 FA2H
43 spasticity 10.0
44 spastic ataxia 10.0 SPG11 PLA2G6 FA2H C19orf12
45 dystonia 12 10.0 PRKN PINK1 PARK7 PANK2 ATP13A2
46 spastic paraplegia 26, autosomal recessive 10.0 SPG11 FA2H
47 postencephalitic parkinson disease 10.0 SNCA PRKN PINK1 PARK7 LRRK2
48 neurodegeneration with brain iron accumulation 4 10.0 PLA2G6 PANK2 FA2H C19orf12 ATP13A2
49 essential tremor 10.0 SNCA PRKN LRRK2 DNAJC13
50 spastic paraplegia 15, autosomal recessive 10.0 SPG11 ATP13A2

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

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


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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.07 ATP13A2 DNAJC6 FA2H LRRK2 PANK2 PARK7
2 homeostasis/metabolism MP:0005376 10 ATP13A2 DNAJC13 FA2H FBXO7 LRRK2 PANK2
3 cellular MP:0005384 9.77 ATP13A2 CUL1 FBXO7 LRRK2 PANK2 PARK7
4 behavior/neurological MP:0005386 9.44 ATP13A2 FA2H FBXO7 LRRK2 PANK2 PARK7

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 Parkinsonian-Pyramidal Syndrome 28 FBXO7

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

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

MalaCards : Eye, Brain, Cortex, Subthalamic Nucleus, Endothelial, Lung
ODiseA: Brain-Cortex, Brain, Brain-Basal Ganglia, Brain-Basal Ganglia-Substantia Nigra

Publications for Parkinson Disease 15, Autosomal Recessive Early-Onset

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

(show top 50) (show all 172)
# Title Authors PMID Year
1
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. 62 57 5
19038853 2009
2
Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays. 62 57 5
18513678 2008
3
A new Turkish family with homozygous FBXO7 truncating mutation and juvenile atypical parkinsonism. 62 5
25085748 2014
4
FBXO7-R498X mutation: phenotypic variability from chorea to early onset parkinsonism within a family. 62 5
25169713 2014
5
Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15). 62 5
21347293 2011
6
Pallido-pyramidal syndrome: a rare entity. 62 57
17337817 2007
7
Pallido-pyramidal syndrome with blepharospasm and good response to levodopa. 62 57
16362831 2005
8
Familial levodopa-responsive parkinsonian-pyramidal syndrome. 62 57
7845409 1994
9
Pallido-pyramidal syndrome treated with levodopa. 62 57
1151403 1975
10
Pallido-pyramidal disease. 62 57
13118374 1954
11
FBXO7 mutations in Parkinson's disease and multiple system atrophy. 5
26882974 2016
12
Familial progressive pallidum atrophy. 57
5444533 1970
13
[Progressive pallidal atrophy]. 57
5644941 1968
14
[CLINICAL CONTRIBUTION TO THE PATHOLOGICAL ASPECT OF PROGRESSIVE ATROPHY OF THE PALLIDUM (VAN BOGAERT)]. 57
14052483 1963
15
The Characteristics of FBXO7 and Its Role in Human Diseases. 62
36261086 2022
16
Nearly Abolished Dopamine Transporter Uptake in a Patient With a Novel FBXO7 Mutation. 62
35880381 2022
17
Axial impairment and falls in Parkinson's disease: 15 years of subthalamic deep brain stimulation. 62
36153351 2022
18
Association between visceral fat and osteoporotic vertebral compression refractures. 62
36063722 2022
19
Pallidal degenerations and related disorders: an update. 62
34363531 2022
20
Impaired mitochondrial accumulation and Lewy pathology in neuron-specific FBXO7-deficient mice. 62
35701754 2022
21
Long-Term Graft Survival and Decline in Endothelial Cell Density Following Penetrating Keratoplasty with Organ-Cultured Corneas. 62
35303284 2022
22
Older Persons Displaying Parkinsonian Gait: Prediction and Explanation of the Recurrent Falling Phenomenon and Its Related Poor Prognosis. 62
35152218 2022
23
Herpes Simplex Virus Keratitis in a University Tertiary Referral Centre - Clinical Features and Surgical Approaches. 62
33607690 2021
24
A novel FBXO7-R345P mutation in a Chinese family with autosomal recessive parkinsonian-pyramidal syndrome. 62
34144229 2021
25
Indications, surgical procedures and outcomes of keratoplasty at a Tertiary University-based hospital: a review of 10 years' experience. 62
33625652 2021
26
First Case of Parkinsonian-Pyramidal Syndrome Associated with a TBK1 Mutation. 62
33245169 2021
27
Analysis of Multiple Human Tumor Cases Reveals the Carcinogenic Effects of PKP3. 62
34733461 2021
28
Comparison of Intraocular Pressure, Usage of Topical Steroids, Need for Intraocular Pressure Lowering Drops, and Incidence of Glaucoma Surgery Up to 2 Years After Penetrating Keratoplasty and Endothelial Keratoplasty. 62
32826764 2020
29
Structural characterization, hypoglycemic effects and antidiabetic mechanism of a novel polysaccharides from Polygonatum kingianum Coll. et Hemsl. 62
33152904 2020
30
Short-term Interim Results of Clinical Outcomes and Complications After Implantation of Boston Keratoprosthesis in Japanese Patients. 62
32925428 2020
31
Novel compound heterozygous FBXO7 mutations in a family with early onset Parkinson's disease. 62
33002721 2020
32
Psychiatric Manifestations of ATP13A2 Mutations. 62
33033738 2020
33
Desmosomal Hyperadhesion Is Accompanied with Enhanced Binding Strength of Desmoglein 3 Molecules. 62
33031738 2020
34
Acid-sensitive PEGylated paclitaxel prodrug nanoparticles for cancer therapy: Effect of PEG length on antitumor efficacy. 62
32687940 2020
35
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect. 62
32767480 2020
36
Compound heterozygous variants of the FBXO7 gene resulting in infantile-onset Parkinsonian-pyramidal syndrome in siblings of a Chinese family. 62
32274857 2020
37
8.5/8.6-mm Excimer Laser-Assisted Penetrating Keratoplasties in a Tertiary Corneal Subspecialty Referral Center: Indications and Outcomes in 107 Eyes. 62
32265385 2020
38
Plakophilin 3 phosphorylation by ribosomal S6 kinases supports desmosome assembly. 62
32122945 2020
39
Identification of PKP 2/3 as potential biomarkers of ovarian cancer based on bioinformatics and experiments. 62
33088217 2020
40
Long-term Outcomes on de novo Ocular Hypertensive Response to Topical Corticosteroids After Corneal Transplantation. 62
31517723 2020
41
Cost-Effectiveness of Low-Field Intraoperative Magnetic Resonance in Glioma Surgery. 62
33224884 2020
42
The Downregulation of c19orf12 Negatively Affects Neuronal and Musculature Development in Zebrafish Embryos. 62
33425903 2020
43
Is Pallido-Pyramidal Syndrome Still a Useful Concept? Yes. 62
31970206 2020
44
Is Pallido-Pyramidal Syndrome Still a Useful Concept? No. 62
31970207 2020
45
A turn for the worse: Turning performance in Parkinson's disease and Essential tremor. 62
31669958 2019
46
Loss of FBXO7 results in a Parkinson's-like dopaminergic degeneration via an RPL23-MDM2-TP53 pathway. 62
31144295 2019
47
Plakophilin 1 but not plakophilin 3 regulates desmoglein clustering. 62
30949721 2019
48
[Descemet's stripping endothelial keratoplasty (DSAEK) in failed penetrating keratoplasty patients: graft survival rate and its associated factors]. 62
31189272 2019
49
Assessment of Pharmacokinetic Drug-Drug Interactions in Humans: In Vivo Probe Substrates for Drug Metabolism and Drug Transport Revisited. 62
30156973 2019
50
FBXO7 sensitivity of phenotypic traits elucidated by a hypomorphic allele. 62
30840666 2019

Variations for Parkinson Disease 15, Autosomal Recessive Early-Onset

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

5 (show top 50) (show all 109)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBXO7 NM_012179.4(FBXO7):c.1213G>T (p.Glu405Ter) SNV Pathogenic
1455741 GRCh37: 22:32894161-32894161
GRCh38: 22:32498174-32498174
2 FBXO7 NM_012179.4(FBXO7):c.1132C>G (p.Arg378Gly) SNV Pathogenic
4808 rs71799110 GRCh37: 22:32889256-32889256
GRCh38: 22:32493269-32493269
3 FBXO7 NM_012179.4(FBXO7):c.1144+1G>T SNV Pathogenic
4810 rs730880272 GRCh37: 22:32889269-32889269
GRCh38: 22:32493282-32493282
4 FBXO7 NM_012179.4(FBXO7):c.65C>T (p.Thr22Met) SNV Pathogenic
4811 rs121918305 GRCh37: 22:32871054-32871054
GRCh38: 22:32475067-32475067
5 FBXO7 NM_012179.4(FBXO7):c.152del (p.Asn51fs) DEL Pathogenic
488517 rs1228608709 GRCh37: 22:32874996-32874996
GRCh38: 22:32479009-32479009
6 FBXO7 NM_012179.4(FBXO7):c.1206_1207dup (p.Arg403fs) DUP Pathogenic
641981 rs749019340 GRCh37: 22:32894152-32894153
GRCh38: 22:32498165-32498166
7 FBXO7 NM_012179.4(FBXO7):c.1492C>T (p.Arg498Ter) SNV Pathogenic
4809 rs121918304 GRCh37: 22:32894440-32894440
GRCh38: 22:32498453-32498453
8 FBXO7 NM_012179.4(FBXO7):c.1345_1347delinsTAA (p.Asp449Ter) INDEL Likely Pathogenic
1679354 GRCh37: 22:32894293-32894295
GRCh38: 22:32498306-32498308
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.693C>T (p.Ser231=) SNV Conflicting Interpretations Of Pathogenicity
341312 rs61752254 GRCh37: 22:32881102-32881102
GRCh38: 22:32485115-32485115
11 FBXO7 NM_012179.4(FBXO7):c.1546G>C (p.Asp516His) SNV Conflicting Interpretations Of Pathogenicity
Uncertain Significance
444586 rs34316445 GRCh37: 22:32894494-32894494
GRCh38: 22:32498507-32498507
12 FBXO7 NM_012179.4(FBXO7):c.1535G>A (p.Gly512Asp) SNV Conflicting Interpretations Of Pathogenicity
706329 rs142471722 GRCh37: 22:32894483-32894483
GRCh38: 22:32498496-32498496
13 FBXO7 NM_012179.4(FBXO7):c.1506T>C (p.Asn502=) SNV Conflicting Interpretations Of Pathogenicity
899932 rs765344006 GRCh37: 22:32894454-32894454
GRCh38: 22:32498467-32498467
14 FBXO7 NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala) SNV Conflicting Interpretations Of Pathogenicity
901598 rs143041875 GRCh37: 22:32875122-32875122
GRCh38: 22:32479135-32479135
15 FBXO7 NM_012179.4(FBXO7):c.1144+9C>T SNV Conflicting Interpretations Of Pathogenicity
341317 rs199954341 GRCh37: 22:32889277-32889277
GRCh38: 22:32493290-32493290
16 FBXO7 NM_012179.4(FBXO7):c.1198C>A (p.His400Asn) SNV Uncertain Significance
860252 rs2057587664 GRCh37: 22:32894146-32894146
GRCh38: 22:32498159-32498159
17 FBXO7 NM_012179.4(FBXO7):c.697G>A (p.Val233Met) SNV Uncertain Significance
648239 rs1388222868 GRCh37: 22:32881106-32881106
GRCh38: 22:32485119-32485119
18 FBXO7 NM_012179.4(FBXO7):c.1070C>T (p.Ala357Val) SNV Uncertain Significance
652909 rs141068487 GRCh37: 22:32889194-32889194
GRCh38: 22:32493207-32493207
19 FBXO7 NM_012179.4(FBXO7):c.1385G>T (p.Ser462Ile) SNV Uncertain Significance
655787 rs149552421 GRCh37: 22:32894333-32894333
GRCh38: 22:32498346-32498346
20 FBXO7 NM_012179.4(FBXO7):c.661G>C (p.Ala221Pro) SNV Uncertain Significance
1443844 GRCh37: 22:32881070-32881070
GRCh38: 22:32485083-32485083
21 FBXO7 NM_012179.4(FBXO7):c.521C>T (p.Ser174Leu) SNV Uncertain Significance
1444906 GRCh37: 22:32879987-32879987
GRCh38: 22:32484000-32484000
22 FBXO7 NM_012179.4(FBXO7):c.1388C>T (p.Ser463Leu) SNV Uncertain Significance
1433610 GRCh37: 22:32894336-32894336
GRCh38: 22:32498349-32498349
23 FBXO7 NM_012179.4(FBXO7):c.917G>A (p.Arg306His) SNV Uncertain Significance
1484666 GRCh37: 22:32887118-32887118
GRCh38: 22:32491131-32491131
24 FBXO7 NM_012179.4(FBXO7):c.1312C>T (p.Arg438Cys) SNV Uncertain Significance
1182452 GRCh37: 22:32894260-32894260
GRCh38: 22:32498273-32498273
25 FBXO7 NM_012179.4(FBXO7):c.803A>G (p.Asn268Ser) SNV Uncertain Significance
1302395 GRCh37: 22:32883747-32883747
GRCh38: 22:32487760-32487760
26 FBXO7 NM_012179.4(FBXO7):c.1453G>A (p.Val485Ile) SNV Uncertain Significance
597905 rs141286570 GRCh37: 22:32894401-32894401
GRCh38: 22:32498414-32498414
27 FBXO7 NM_012179.4(FBXO7):c.169A>G (p.Thr57Ala) SNV Uncertain Significance
640301 rs760306475 GRCh37: 22:32875014-32875014
GRCh38: 22:32479027-32479027
28 FBXO7 NM_012179.4(FBXO7):c.1536_1539del (p.Arg513fs) DEL Uncertain Significance
640811 rs772175765 GRCh37: 22:32894482-32894485
GRCh38: 22:32498495-32498498
29 FBXO7 NM_012179.4(FBXO7):c.274G>C (p.Asp92His) SNV Uncertain Significance
Uncertain Significance
341308 rs139135860 GRCh37: 22:32875119-32875119
GRCh38: 22:32479132-32479132
30 FBXO7 NM_012179.4(FBXO7):c.*170C>G SNV Uncertain Significance
341321 rs186797068 GRCh37: 22:32894687-32894687
GRCh38: 22:32498700-32498700
31 FBXO7 NM_012179.4(FBXO7):c.1505A>G (p.Asn502Ser) SNV Uncertain Significance
341318 rs144538200 GRCh37: 22:32894453-32894453
GRCh38: 22:32498466-32498466
32 FBXO7 NM_012179.4(FBXO7):c.32C>T (p.Thr11Ile) SNV Uncertain Significance
934590 rs1233525301 GRCh37: 22:32871021-32871021
GRCh38: 22:32475034-32475034
33 FBXO7 NM_012179.4(FBXO7):c.464C>A (p.Ala155Glu) SNV Uncertain Significance
953199 rs61730784 GRCh37: 22:32879930-32879930
GRCh38: 22:32483943-32483943
34 FBXO7 NM_012179.4(FBXO7):c.593C>G (p.Ala198Gly) SNV Uncertain Significance
962045 rs2057482701 GRCh37: 22:32880059-32880059
GRCh38: 22:32484072-32484072
35 FBXO7 NM_012179.4(FBXO7):c.1497C>T (p.Gly499=) SNV Uncertain Significance
962864 rs373124830 GRCh37: 22:32894445-32894445
GRCh38: 22:32498458-32498458
36 FBXO7 NM_012179.4(FBXO7):c.1264A>T (p.Ile422Phe) SNV Uncertain Significance
971129 rs1555884880 GRCh37: 22:32894212-32894212
GRCh38: 22:32498225-32498225
37 FBXO7 NM_012179.4(FBXO7):c.1181_1182+1del MICROSAT Uncertain Significance
971885 rs2057568606 GRCh37: 22:32891513-32891515
GRCh38: 22:32495526-32495528
38 FBXO7 NM_012179.4(FBXO7):c.114G>C (p.Trp38Cys) SNV Uncertain Significance
1478274 GRCh37: 22:32871103-32871103
GRCh38: 22:32475116-32475116
39 FBXO7 NM_012179.4(FBXO7):c.1541del (p.Pro514fs) DEL Uncertain Significance
1463711 GRCh37: 22:32894488-32894488
GRCh38: 22:32498501-32498501
40 FBXO7 NM_012179.4(FBXO7):c.284A>T (p.His95Leu) SNV Uncertain Significance
1464858 GRCh37: 22:32875129-32875129
GRCh38: 22:32479142-32479142
41 FBXO7 NM_012179.4(FBXO7):c.1490G>C (p.Gly497Ala) SNV Uncertain Significance
1483160 GRCh37: 22:32894438-32894438
GRCh38: 22:32498451-32498451
42 FBXO7 NM_012179.4(FBXO7):c.430C>G (p.Gln144Glu) SNV Uncertain Significance
1498910 GRCh37: 22:32879896-32879896
GRCh38: 22:32483909-32483909
43 FBXO7 NM_012179.4(FBXO7):c.899A>T (p.Asp300Val) SNV Uncertain Significance
1500537 GRCh37: 22:32887100-32887100
GRCh38: 22:32491113-32491113
44 FBXO7 NM_012179.4(FBXO7):c.1100A>G (p.Asn367Ser) SNV Uncertain Significance
1522156 GRCh37: 22:32889224-32889224
GRCh38: 22:32493237-32493237
45 FBXO7 NM_012179.4(FBXO7):c.1386T>G (p.Ser462Arg) SNV Uncertain Significance
1503061 GRCh37: 22:32894334-32894334
GRCh38: 22:32498347-32498347
46 FBXO7 NM_012179.4(FBXO7):c.674C>G (p.Pro225Arg) SNV Uncertain Significance
1347968 GRCh37: 22:32881083-32881083
GRCh38: 22:32485096-32485096
47 FBXO7 NM_012179.4(FBXO7):c.726_727del (p.Cys243fs) MICROSAT Uncertain Significance
631890 rs1290655316 GRCh37: 22:32881131-32881132
GRCh38: 22:32485144-32485145
48 FBXO7 NM_012179.4(FBXO7):c.-93G>A SNV Uncertain Significance
341305 rs886057419 GRCh37: 22:32870897-32870897
GRCh38: 22:32474910-32474910
49 FBXO7 NM_012179.4(FBXO7):c.745A>G (p.Thr249Ala) SNV Uncertain Significance
341313 rs749742547 GRCh37: 22:32881154-32881154
GRCh38: 22:32485167-32485167
50 FBXO7 NM_012179.4(FBXO7):c.49C>G (p.Pro17Ala) SNV Uncertain Significance
341306 rs886057420 GRCh37: 22:32871038-32871038
GRCh38: 22:32475051-32475051

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

73
# 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

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 10.64 C19orf12 CUL1 DNAJC13 DNAJC6 FBXO7 LRRK2
2 mitochondrion GO:0005739 10.26 C19orf12 FBXO7 LRRK2 PANK2 PARK7 PINK1
3 presynapse GO:0098793 9.95 VPS35 PRKN PARK7 DNAJC6
4 synapse GO:0045202 9.92 DNAJC6 LRRK2 PARK7 PRKN SNCA SPG11
5 Lewy body GO:0097413 9.67 PRKN PINK1
6 Parkin-FBXW7-Cul1 ubiquitin ligase complex GO:1990452 9.46 PRKN CUL1
7 SCF ubiquitin ligase complex GO:0019005 9.36 SKP1 PRKN FBXO7 FBXO48 FBXO42 CUL1
8 mitochondrion-derived vesicle GO:0099073 9.26 VPS35 PRKN

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

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 10.27 SNCA PRKN PINK1 PARK7
2 ubiquitin-dependent protein catabolic process GO:0006511 10.26 CUL1 FBXO7 PINK1 PRKN PSMF1 SKP1
3 regulation of protein stability GO:0031647 10.22 VPS35 PRKN LRRK2 FBXO7
4 response to oxidative stress GO:0006979 10.22 C19orf12 LRRK2 PARK7 PINK1 PRKN
5 mitochondrion organization GO:0007005 10.21 PRKN PINK1 PARK7 LRRK2
6 protein K48-linked ubiquitination GO:0070936 10.18 SKP1 PRKN CUL1
7 cellular response to oxidative stress GO:0034599 10.18 SNCA PINK1 PARK7 LRRK2 ATP13A2
8 adult locomotory behavior GO:0008344 10.16 SNCA PRKN PARK7
9 protein destabilization GO:0031648 10.16 PRKN SNCA VPS35
10 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 10.15 SKP1 FBXO48 CUL1
11 lysosome organization GO:0007040 10.15 VPS35 SPG11 LRRK2
12 protein monoubiquitination GO:0006513 10.14 SKP1 PRKN CUL1
13 autophagy of mitochondrion GO:0000422 10.13 PRKN PINK1 FBXO7
14 autophagy GO:0006914 10.07 PRKN PINK1 PARK7 LRRK2 C19orf12 ATP13A2
15 positive regulation of mitochondrial fission GO:0090141 10.05 VPS35 PRKN PINK1
16 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 10.04 PRKN PARK7 LRRK2
17 regulation of mitochondrial membrane potential GO:0051881 10.01 PRKN PINK1 PARK7 PANK2
18 negative regulation of hydrogen peroxide-induced cell death GO:1903206 10 PARK7 LRRK2
19 regulation of reactive oxygen species metabolic process GO:2000377 10 SNCA PRKN PINK1
20 regulation of cellular response to oxidative stress GO:1900407 9.99 PRKN PINK1
21 protein localization to mitochondrion GO:0070585 9.99 PRKN LRRK2
22 cellular response to toxic substance GO:0097237 9.99 PRKN PINK1
23 cellular response to manganese ion GO:0071287 9.99 PRKN LRRK2 ATP13A2
24 regulation of protein targeting to mitochondrion GO:1903214 9.98 PRKN PINK1
25 negative regulation of oxidative stress-induced cell death GO:1903202 9.97 PRKN PINK1 PARK7
26 positive regulation of histone deacetylase activity GO:1901727 9.96 LRRK2 PINK1
27 autophagosome organization GO:1905037 9.96 ATP13A2 SPG11
28 positive regulation of mitophagy in response to mitochondrial depolarization GO:0098779 9.96 PRKN PINK1
29 zinc ion homeostasis GO:0055069 9.95 PRKN ATP13A2
30 negative regulation of oxidative stress-induced neuron death GO:1903204 9.95 PINK1 PARK7 FBXO7
31 negative regulation of lysosomal protein catabolic process GO:1905166 9.94 VPS35 ATP13A2
32 positive regulation of dopamine receptor signaling pathway GO:0060161 9.93 LRRK2 VPS35
33 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.93 PARK7 PRKN
34 regulation of locomotion GO:0040012 9.93 FBXO7 LRRK2 SNCA
35 positive regulation of mitochondrial electron transport, NADH to ubiquinone GO:1902958 9.92 PINK1 PARK7
36 positive regulation of autophagy of mitochondrion GO:1903599 9.91 FBXO7 PARK7 PRKN
37 negative regulation of late endosome to lysosome transport GO:1902823 9.9 LRRK2 VPS35
38 positive regulation of dopamine biosynthetic process GO:1903181 9.89 PARK7 VPS35
39 negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway GO:1903384 9.88 PARK7 PINK1
40 regulation of mitochondrion organization GO:0010821 9.86 ATP13A2 PINK1 PRKN VPS35
41 negative regulation of hydrogen peroxide-induced neuron death GO:1903208 9.81 PARK7 FBXO7
42 dopamine uptake involved in synaptic transmission GO:0051583 9.8 SNCA PRKN PARK7
43 synaptic transmission, dopaminergic GO:0001963 9.71 SNCA PRKN PARK7
44 regulation of synaptic vesicle endocytosis GO:1900242 9.7 PRKN LRRK2
45 regulation of synaptic vesicle transport GO:1902803 9.63 PRKN PINK1 LRRK2
46 negative regulation of neuron death GO:1901215 9.47 VPS35 SNCA PRKN PINK1 PARK7 LRRK2
47 mitochondrion to lysosome transport GO:0099074 9.43 VPS35 PRKN PINK1

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 ligase-substrate adaptor activity GO:1990756 9.63 SKP1 FBXO7 FBXO42
2 cuprous ion binding GO:1903136 9.56 SNCA PARK7
3 cupric ion binding GO:1903135 9.26 PARK7 ATP13A2
4 F-box domain binding GO:1990444 8.92 SKP1 PRKN

Sources for Parkinson Disease 15, Autosomal Recessive Early-Onset

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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