MCID: PRK086
MIFTS: 39

Parkinson Disease 15, Autosomal Recessive Early-Onset

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Metabolic 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 Disease 15 12 15
Pallido-Pyramidal Syndrome 57 75
Park15 57 75
Pkps 57 75
Autosomal Recessive Early-Onset Parkinson's 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


External Ids:

OMIM 57 260300
Disease Ontology 12 DOID:0060372
Orphanet 59 ORPHA171695
ICD10 via Orphanet 34 G20
UMLS via Orphanet 74 C1850100
MedGen 42 C1850100
MeSH 44 D020734
UMLS 73 C1850100

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 popliteal pterygium syndrome, 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 is Neuroscience. Affiliated tissues include eye, and related phenotypes are dysarthria and tremor

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 97)
# Related Disease Score Top Affiliating Genes
1 synucleinopathy 29.3 ATP13A2 SNCA
2 popliteal pterygium syndrome 11.9
3 popliteal pterygium syndrome, lethal type 11.6
4 postpoliomyelitis syndrome 11.4
5 irf6-related disorders 11.1
6 normokalemic periodic paralysis 10.9
7 chaotic atrial tachycardia 10.9
8 alzheimer disease 10.2
9 pancreatitis 10.2
10 early-onset parkinson's disease 10.1 ATP13A2 SNCA
11 blepharospasm 10.0
12 tremor 10.0 C19orf12 SNCA
13 juvenile amyotrophic lateral sclerosis 10.0 C19orf12 SPG11
14 inclusion body myositis 9.9
15 myositis 9.9
16 cerebritis 9.9
17 axonal neuropathy 9.8 C19orf12 SPG11
18 septooptic dysplasia 9.8
19 muscular dystrophy-dystroglycanopathy , type a, 1 9.8
20 peters-plus syndrome 9.8
21 hydrocephalus 9.8
22 walker-warburg syndrome 9.8
23 kidney cancer 9.8
24 neuronitis 9.8
25 psoriasis 9.8
26 pustular psoriasis 9.8
27 3-methylglutaconic aciduria, type iii 9.7 C19orf12 SNCA
28 cerebral amyloid angiopathy, cst3-related 9.6
29 breast cancer 9.6
30 cerebral amyloid angiopathy, itm2b-related, 2 9.6
31 syngnathia 9.6
32 sorsby fundus dystrophy 9.6
33 osteoporosis 9.6
34 aging 9.6
35 cervical cancer 9.6
36 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 9.6
37 muscular dystrophy, congenital, lmna-related 9.6
38 alacrima, achalasia, and mental retardation syndrome 9.6
39 bipolar disorder 9.6
40 end stage renal failure 9.6
41 exocrine pancreatic insufficiency 9.6
42 neuromyelitis optica 9.6
43 chronic venous insufficiency 9.6
44 myelomeningocele 9.6
45 venous insufficiency 9.6
46 asbestosis 9.6
47 tethered spinal cord syndrome 9.6
48 sarcoma 9.6
49 diabetic autonomic neuropathy 9.6
50 autonomic neuropathy 9.6

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:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 dysarthria 32 HP:0001260
2 tremor 32 HP:0001337
3 hyperreflexia 32 HP:0001347
4 babinski sign 32 HP:0003487
5 dystonia 32 HP:0001332
6 rigidity 32 HP:0002063
7 talipes equinovarus 32 HP:0001762
8 abnormality of extrapyramidal motor function 32 HP:0002071
9 bradykinesia 32 HP:0002067
10 lower limb spasticity 32 HP:0002061
11 hypomimic face 32 HP:0000338
12 postural instability 32 HP:0002172
13 parkinsonism with favorable response to dopaminergic medication 32 HP:0002548
14 slow saccadic eye movements 32 HP:0000514
15 scissor gait 32 HP:0012407

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


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

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

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 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBXO7 NM_012179.3(FBXO7): c.1492C> T (p.Arg498Ter) single nucleotide variant Pathogenic rs121918304 GRCh38 Chromosome 22, 32498453: 32498453
2 FBXO7 NM_012179.3(FBXO7): c.1132C> G (p.Arg378Gly) single nucleotide variant Pathogenic rs71799110 GRCh37 Chromosome 22, 32889256: 32889256
3 FBXO7 NM_012179.3(FBXO7): c.1132C> G (p.Arg378Gly) single nucleotide variant Pathogenic rs71799110 GRCh38 Chromosome 22, 32493269: 32493269
4 FBXO7 NM_012179.3(FBXO7): c.1492C> T (p.Arg498Ter) single nucleotide variant Pathogenic rs121918304 GRCh37 Chromosome 22, 32894440: 32894440
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.274G> C (p.Asp92His) single nucleotide variant Uncertain significance rs139135860 GRCh38 Chromosome 22, 32479132: 32479132
18 FBXO7 NM_012179.3(FBXO7): c.274G> C (p.Asp92His) single nucleotide variant Uncertain significance rs139135860 GRCh37 Chromosome 22, 32875119: 32875119
19 FBXO7 NM_012179.3(FBXO7): c.949C> T (p.Leu317=) single nucleotide variant Benign rs9726 GRCh38 Chromosome 22, 32491163: 32491163
20 FBXO7 NM_012179.3(FBXO7): c.949C> T (p.Leu317=) single nucleotide variant Benign rs9726 GRCh37 Chromosome 22, 32887150: 32887150
21 FBXO7 NM_012179.3(FBXO7): c.540A> G (p.Pro180=) single nucleotide variant Benign/Likely benign rs41311141 GRCh38 Chromosome 22, 32484019: 32484019
22 FBXO7 NM_012179.3(FBXO7): c.540A> G (p.Pro180=) single nucleotide variant Benign/Likely benign rs41311141 GRCh37 Chromosome 22, 32880006: 32880006
23 FBXO7 NM_012179.3(FBXO7): c.693C> T (p.Ser231=) single nucleotide variant Conflicting interpretations of pathogenicity rs61752254 GRCh38 Chromosome 22, 32485115: 32485115
24 FBXO7 NM_012179.3(FBXO7): c.693C> T (p.Ser231=) single nucleotide variant Conflicting interpretations of pathogenicity rs61752254 GRCh37 Chromosome 22, 32881102: 32881102
25 FBXO7 NM_012179.3(FBXO7): c.520T> A (p.Ser174Thr) single nucleotide variant no interpretation for the single variant GRCh37 Chromosome 22, 32879986: 32879986
26 FBXO7 NM_012179.3(FBXO7): c.520T> A (p.Ser174Thr) single nucleotide variant no interpretation for the single variant GRCh38 Chromosome 22, 32483999: 32483999
27 FBXO7 NM_012179.3(FBXO7): c.1546G> C (p.Asp516His) single nucleotide variant Uncertain significance rs34316445 GRCh37 Chromosome 22, 32894494: 32894494
28 FBXO7 NM_012179.3(FBXO7): c.1546G> C (p.Asp516His) single nucleotide variant Uncertain significance rs34316445 GRCh38 Chromosome 22, 32498507: 32498507
29 FBXO7 NM_012179.3(FBXO7): c.151delA (p.Asn51Thrfs) deletion Pathogenic GRCh37 Chromosome 22, 32874996: 32874996
30 FBXO7 NM_012179.3(FBXO7): c.151delA (p.Asn51Thrfs) deletion Pathogenic GRCh38 Chromosome 22, 32479009: 32479009
31 FBXO7 NM_001033024.1(FBXO7): c.35T> G (p.Leu12Arg) single nucleotide variant Benign rs8137714 GRCh38 Chromosome 22, 32475396: 32475396
32 FBXO7 NM_001033024.1(FBXO7): c.35T> G (p.Leu12Arg) single nucleotide variant Benign rs8137714 GRCh37 Chromosome 22, 32871383: 32871383
33 FBXO7 NM_012179.3(FBXO7): c.601G> A (p.Val201Met) single nucleotide variant Likely benign rs61730783 GRCh37 Chromosome 22, 32880067: 32880067
34 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 11.33 ATP13A2 FBXO7 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 9.63 C19orf12 FBXO7 PANK2 PLA2G6 SNCA SPG11
2 mitochondrion GO:0005739 9.02 C19orf12 FBXO7 PANK2 PLA2G6 SNCA
3 mitochondrial intermembrane space GO:0005758 8.96 PANK2 SNCA

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to oxidative stress GO:0034599 9.26 ATP13A2 SNCA
2 synaptic vesicle transport GO:0048489 9.16 SNCA SPG11
3 regulation of locomotion GO:0040012 8.96 FBXO7 SNCA
4 negative regulation of neuron death GO:1901215 8.8 ATP13A2 FBXO7 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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