PARK15
MCID: PRK086
MIFTS: 52

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

Categories: 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 56
Pallidopyramidal Syndrome 56 12 52 58 73
Parkinsonian-Pyramidal Syndrome 56 12 58 73
Parkinson Disease 15, Autosomal Recessive 56 13 71
Parkinson Disease 15 73 29 6
Autosomal Recessive Early-Onset Parkinson's Disease 15 12 15
Pallido-Pyramidal Syndrome 56 73
Park15 56 73
Pkps 56 73
Autosomal Recessive Early-Onset Parkinson Disease 15 12
Parkinson Disease 15 Autosomal Recessive 73
Parkinsonian-Pyramidal Syndrome; Pkps 56
Parkinson Disease, Type 15 39
Pallido-Pyramidal Disease 52
Parkinson's Disease 15 12
Pps 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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

NIH Rare Diseases : 52 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 ). Visit the Orphanet disease page for more resources.

MalaCards based summary : Parkinson Disease 15, Autosomal Recessive Early-Onset, also known as pallidopyramidal syndrome, is related to complex hereditary spastic paraplegia and multiple system atrophy 1, 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 Neuroscience and Parkinsons Disease Pathway. Affiliated tissues include brain, liver and 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 : 73 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:

(showing 355, show less)
# Related Disease Score Top Affiliating Genes
1 complex hereditary spastic paraplegia 30.7 SPG11 ATP13A2
2 multiple system atrophy 1 30.3 SNCA PRKN LRRK2
3 paraplegia 30.2 SPG11 FA2H C19orf12 ATP13A2
4 hereditary spastic paraplegia 29.8 SPG11 PLA2G6 FA2H C19orf12 ATP13A2
5 dystonia 28.7 PRKN PLA2G6 PINK1 PARK7 PANK2 LRRK2
6 neurodegeneration with brain iron accumulation 28.0 SPG11 SNCA PRKN PLA2G6 PINK1 PARK7
7 parkinson disease, late-onset 27.4 VPS35 SNCA PRKN PLA2G6 PINK1 PARK7
8 popliteal pterygium syndrome 12.3
9 irf6-related disorders 11.7
10 postpoliomyelitis syndrome 11.7
11 van der woude syndrome 1 11.5
12 hyperkalemic periodic paralysis 11.2
13 bartsocas-papas syndrome 11.2
14 pemphigus 11.2
15 chaotic atrial tachycardia 11.2
16 astigmatism 10.4
17 myeloma, multiple 10.3
18 keratoconus 10.3
19 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
20 parkinson disease 6, autosomal recessive early-onset 10.3 PINK1 PARK7
21 muscular dystrophy, congenital, megaconial type 10.3 PRKN PINK1
22 oromandibular dystonia 10.3 PLA2G6 PANK2 C19orf12
23 spasticity 10.3
24 parkinson disease, mitochondrial 10.2 PRKN LRRK2
25 neuropathy, hereditary sensory, type iic 10.2 SPG11 FA2H
26 spastic paraplegia 14, autosomal recessive 10.2 SPG11 FA2H
27 48,xyyy 10.2
28 lrrk2 parkinson disease 10.2 SNCA PRKN LRRK2
29 spastic paraplegia 11, autosomal recessive 10.2
30 blepharospasm 10.2
31 ovarian cancer 10.2
32 anisometropia 10.2
33 spastic paraplegia 77, autosomal recessive 10.2 SPG11 FA2H
34 spastic paraplegia 18, autosomal recessive 10.1 SPG11 FA2H
35 spastic paraplegia 28, autosomal recessive 10.1 SPG11 FA2H
36 pancreatic cancer 10.1
37 47,xyy 10.1
38 essential tremor 10.1 SNCA PRKN LRRK2
39 parkinson disease 1, autosomal dominant 10.1
40 inherited metabolic disorder 10.1
41 spastic paraplegia 5a, autosomal recessive 10.1 SPG11 FA2H
42 spastic paraplegia 43, autosomal recessive 10.1 SPG11 FA2H C19orf12
43 hereditary late-onset parkinson disease 10.1 VPS35 SNCA LRRK2
44 liver disease 10.1
45 cerebral degeneration 10.1 PLA2G6 PANK2 FA2H
46 spastic paraplegia 54, autosomal recessive 10.1 SPG11 FA2H
47 cleft lip 10.0
48 back pain 10.0
49 cleft lip/palate 10.0
50 spastic paraplegia 56, autosomal recessive 10.0 SPG11 FA2H
51 tremor 10.0 SNCA PRKN LRRK2 C19orf12
52 parkinson disease 3, autosomal dominant 10.0 SNCA PRKN PARK7 LRRK2
53 spastic paraplegia 30, autosomal recessive 10.0 SPG11 FA2H
54 kaposi sarcoma 10.0
55 pelvic organ prolapse 10.0
56 intraocular pressure quantitative trait locus 10.0
57 microvascular complications of diabetes 5 10.0
58 helix syndrome 10.0
59 duodenal ulcer 10.0
60 pulmonary tuberculosis 10.0
61 substance abuse 10.0
62 pancreatitis 10.0
63 hypoglycemia 10.0
64 oral cancer 10.0
65 depression 10.0
66 benign idiopathic neonatal seizures 10.0
67 neurodegeneration with brain iron accumulation 6 10.0 PLA2G6 PANK2 FA2H C19orf12
68 pick disease of brain 9.9 SNCA PRKN PARK7 LRRK2
69 dystonia 12 9.9 SNCA PRKN PINK1 PARK7 ATP13A2
70 spastic paraplegia 46, autosomal recessive 9.9 SPG11 FA2H
71 neurofibromatosis, type ii 9.9
72 alcohol dependence 9.9
73 sorsby fundus dystrophy 9.9
74 pancreatitis, hereditary 9.9
75 palmoplantar keratoderma, punctate type ii 9.9
76 prostate cancer 9.9
77 septooptic dysplasia 9.9
78 peters-plus syndrome 9.9
79 insulin-like growth factor i 9.9
80 body mass index quantitative trait locus 11 9.9
81 anorexia nervosa 9.9
82 leptin deficiency or dysfunction 9.9
83 deficiency anemia 9.9
84 walker-warburg syndrome 9.9
85 gastric ulcer 9.9
86 hydrocephalus 9.9
87 myopia 9.9
88 gout 9.9
89 diarrhea 9.9
90 porphyria 9.9
91 exocrine pancreatic insufficiency 9.9
92 rheumatic disease 9.9
93 mental depression 9.9
94 neuritis 9.9
95 viral hepatitis 9.9
96 cerebral palsy 9.9
97 kidney cancer 9.9
98 glioblastoma multiforme 9.9
99 rhabdomyosarcoma 9.9
100 skin disease 9.9
101 adrenal carcinoma 9.9
102 hyperglycemia 9.9
103 pustulosis of palm and sole 9.9
104 poliomyelitis 9.9
105 fibromyalgia 9.9
106 adenoma 9.9
107 neuroblastoma 9.9
108 fundus dystrophy 9.9
109 psoriasis 9.9
110 amyloidosis 9.9
111 hypopituitarism 9.9
112 muscular dystrophy 9.9
113 congenital hypopituitarism 9.9
114 punctate porokeratosis 9.9
115 pustular psoriasis 9.9
116 rapidly involuting congenital hemangioma 9.9
117 pik3ca-related overgrowth syndrome 9.9
118 rare surgical neurologic disease 9.9
119 sphingolipidosis 9.9 SNCA PRKN PINK1 LRRK2 ATP13A2
120 neurodegeneration with brain iron accumulation 2b 9.8 PLA2G6 PANK2 FA2H C19orf12 ATP13A2
121 neurodegeneration with brain iron accumulation 4 9.8 PLA2G6 PANK2 FA2H C19orf12 ATP13A2
122 neurodegeneration with brain iron accumulation 3 9.8 PLA2G6 PANK2 FA2H C19orf12 ATP13A2
123 neurodegeneration with brain iron accumulation 5 9.8 PLA2G6 PANK2 FA2H C19orf12 ATP13A2
124 parkinson disease 10 9.8 SNCA PRKN PINK1 PARK7 LRRK2
125 parkinson disease 2, autosomal recessive juvenile 9.8 SNCA PRKN PINK1 PARK7 LRRK2
126 toxic encephalopathy 9.8 SNCA PRKN PINK1 PARK7 LRRK2
127 spastic paraplegia 39, autosomal recessive 9.7 SPG11 FA2H
128 atherosclerosis susceptibility 9.7
129 bladder cancer 9.7
130 cardiac conduction defect 9.7
131 syngnathia 9.7
132 diabetes mellitus, noninsulin-dependent 9.7
133 esophageal cancer 9.7
134 gerstmann-straussler disease 9.7
135 attention deficit-hyperactivity disorder 9.7
136 renal cell carcinoma, nonpapillary 9.7
137 hypertelorism 9.7
138 inclusion body myositis 9.7
139 medulloblastoma 9.7
140 migraine with or without aura 1 9.7
141 myositis 9.7
142 oculopharyngeal muscular dystrophy 9.7
143 osteoporosis 9.7
144 nephrolithiasis, calcium oxalate 9.7
145 benign chronic pemphigus 9.7
146 polykaryocytosis inducer 9.7
147 porphyria cutanea tarda 9.7
148 variegate porphyria 9.7
149 retinal detachment 9.7
150 rheumatoid arthritis 9.7
151 syringomyelia, noncommunicating isolated 9.7
152 triiodothyronine receptor auxiliary protein 9.7
153 whim syndrome 9.7
154 ataxia-telangiectasia 9.7
155 autism 9.7
156 muscular dystrophy-dystroglycanopathy , type a, 1 9.7
157 kuru 9.7
158 leprosy 3 9.7
159 familial mediterranean fever 9.7
160 3-methylglutaconic aciduria, type iii 9.7
161 kelley-seegmiller syndrome 9.7
162 arts syndrome 9.7
163 asthma 9.7
164 congenital disorder of glycosylation, type id 9.7
165 yemenite deaf-blind hypopigmentation syndrome 9.7
166 body mass index quantitative trait locus 9 9.7
167 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration 9.7
168 body mass index quantitative trait locus 8 9.7
169 cervical cancer 9.7
170 pars planitis 9.7
171 meningioma, radiation-induced 9.7
172 gastrointestinal stromal tumor 9.7
173 pulmonary disease, chronic obstructive 9.7
174 meningioma, familial 9.7
175 coronary heart disease 1 9.7
176 body mass index quantitative trait locus 4 9.7
177 bulimia nervosa 9.7
178 body mass index quantitative trait locus 10 9.7
179 anxiety 9.7
180 endometrial cancer 9.7
181 leukemia, chronic myeloid 9.7
182 parathyroid carcinoma 9.7
183 body mass index quantitative trait locus 7 9.7
184 major depressive disorder 9.7
185 malaria 9.7
186 bone mineral density quantitative trait locus 8 9.7
187 diabetes mellitus, ketosis-prone 9.7
188 major affective disorder 8 9.7
189 body mass index quantitative trait locus 12 9.7
190 major affective disorder 9 9.7
191 body mass index quantitative trait locus 14 9.7
192 muscular dystrophy, congenital, lmna-related 9.7
193 bile acid malabsorption, primary 9.7
194 bone mineral density quantitative trait locus 15 9.7
195 gastric cancer 9.7
196 riboflavin deficiency 9.7
197 pulmonary hypertension, primary, 3 9.7
198 body mass index quantitative trait locus 18 9.7
199 alacrima, achalasia, and mental retardation syndrome 9.7
200 body mass index quantitative trait locus 19 9.7
201 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.7
202 body mass index quantitative trait locus 20 9.7
203 speech and communication disorders 9.7
204 angina pectoris 9.7
205 restless legs syndrome 9.7
206 brachydactyly 9.7
207 atrioventricular block 9.7
208 sleep apnea 9.7
209 chronic venous insufficiency 9.7
210 gallbladder disease 9.7
211 myelomeningocele 9.7
212 non-alcoholic fatty liver disease 9.7
213 endometritis 9.7
214 venous insufficiency 9.7
215 osteomyelitis 9.7
216 asbestosis 9.7
217 tonsillitis 9.7
218 glucose intolerance 9.7
219 hypospadias 9.7
220 microcephaly 9.7
221 placenta praevia 9.7
222 sarcoma 9.7
223 pertussis 9.7
224 spinal meningioma 9.7
225 pyelonephritis 9.7
226 diphtheria 9.7
227 diabetic autonomic neuropathy 9.7
228 autonomic neuropathy 9.7
229 palindromic rheumatism 9.7
230 portal vein thrombosis 9.7
231 iron deficiency anemia 9.7
232 panuveitis 9.7
233 allergic hypersensitivity disease 9.7
234 goiter 9.7
235 vogt-koyanagi-harada disease 9.7
236 dysentery 9.7
237 shigellosis 9.7
238 acoustic neuroma 9.7
239 leiomyoma 9.7
240 telangiectasis 9.7
241 uveitis 9.7
242 acute cystitis 9.7
243 cutaneous porphyria 9.7
244 beriberi 9.7
245 facial paralysis 9.7
246 amenorrhea 9.7
247 interstitial cystitis 9.7
248 gonadal dysgenesis 9.7
249 neuronal ceroid lipofuscinosis 9.7
250 aggressive periodontitis 9.7
251 cholera 9.7
252 personality disorder 9.7
253 panniculitis 9.7
254 ventricular septal defect 9.7
255 pneumothorax 9.7
256 cystitis 9.7
257 heart septal defect 9.7
258 neuroendocrine tumor 9.7
259 ichthyosis 9.7
260 hyperuricemia 9.7
261 cholecystitis 9.7
262 hyperinsulinism 9.7
263 enthesopathy 9.7
264 post-traumatic stress disorder 9.7
265 ankylosis 9.7
266 iron metabolism disease 9.7
267 psychotic disorder 9.7
268 dermatitis 9.7
269 bilirubin metabolic disorder 9.7
270 idiopathic interstitial pneumonia 9.7
271 endometriosis 9.7
272 acute pancreatitis 9.7
273 glomerulonephritis 9.7
274 adenocarcinoma 9.7
275 acute kidney failure 9.7
276 malignant glioma 9.7
277 proctitis 9.7
278 neurilemmoma 9.7
279 syringomyelia 9.7
280 vaccinia 9.7
281 bipolar disorder 9.7
282 fibrosarcoma 9.7
283 turner syndrome 9.7
284 pancreatic ductal adenocarcinoma 9.7
285 choriocarcinoma 9.7
286 pulmonary fibrosis 9.7
287 gastritis 9.7
288 syphilis 9.7
289 myopathy 9.7
290 spindle cell sarcoma 9.7
291 myofibroma 9.7
292 somatostatinoma 9.7
293 secretory meningioma 9.7
294 lymphoplasmacyte-rich meningioma 9.7
295 multiple chemical sensitivity 9.7
296 neurotic disorder 9.7
297 liver cirrhosis 9.7
298 ovarian cyst 9.7
299 pneumonia 9.7
300 kidney disease 9.7
301 adenosine deaminase deficiency 9.7
302 acute stress disorder 9.7
303 mitral valve disease 9.7
304 subacute thyroiditis 9.7
305 thyroiditis 9.7
306 peptic ulcer disease 9.7
307 end stage renal failure 9.7
308 periodontitis 9.7
309 cataract 9.7
310 appendicitis 9.7
311 osteoarthritis 9.7
312 pellagra 9.7
313 chronic fatigue syndrome 9.7
314 tongue cancer 9.7
315 eating disorder 9.7
316 neuropathy 9.7
317 in situ carcinoma 9.7
318 neuromyelitis optica 9.7
319 iridocyclitis 9.7
320 fatty liver disease 9.7
321 pulmonary embolism 9.7
322 sickle cell disease 9.7
323 cytokine deficiency 9.7
324 encephalocele 9.7
325 glioma 9.7
326 glucagonoma 9.7
327 growth hormone deficiency 9.7
328 hansen's disease 9.7
329 meningoencephalocele 9.7
330 muscle eye brain disease 9.7
331 neuromyelitis optica spectrum disorder 9.7
332 precocious puberty 9.7
333 cytomegalovirus infection 9.7
334 encephalopathy 9.7
335 asbestos intoxication 9.7
336 glial tumor 9.7
337 orofacial clefting syndrome 9.7
338 temporomandibular joint anomaly 9.7
339 chronic enteropathy associated with slco2a1 gene 9.7
340 obsolete: ehlers-danlos syndrome, fibronectinemic type 9.7
341 neurodegeneration with brain iron accumulation 2a 9.7 SNCA PLA2G6 PANK2 FA2H C19orf12 ATP13A2
342 neurodegeneration with brain iron accumulation 1 9.7 SNCA PLA2G6 PANK2 FA2H C19orf12 ATP13A2
343 neuroaxonal dystrophy 9.7 SNCA PLA2G6 PANK2 FA2H C19orf12 ATP13A2
344 dementia 9.7 SNCA PRKN PINK1 PARK7 LRRK2 ATP13A2
345 spastic paraplegia 35, autosomal recessive 9.7 SPG11 PLA2G6 PANK2 FA2H C19orf12 ATP13A2
346 supranuclear palsy, progressive, 1 9.7 SNCA PRKN PINK1 PARK7 LRRK2 ATP13A2
347 mitochondrial complex i deficiency, nuclear type 1 9.5 SNCA PRKN PLA2G6 PINK1 PARK7 LRRK2
348 dementia, lewy body 9.4 VPS35 SNCA PRKN PINK1 PARK7 LRRK2
349 early-onset parkinson's disease 9.4 SNCA PRKN PLA2G6 PINK1 PARK7 LRRK2
350 postencephalitic parkinson disease 9.4 SNCA PRKN PINK1 PARK7 LRRK2 GAK
351 movement disease 9.3 SNCA PRKN PLA2G6 PINK1 PARK7 PANK2
352 aceruloplasminemia 9.1 SPG11 SNCA PLA2G6 PINK1 PARK7 PANK2
353 amyotrophic lateral sclerosis 1 9.1 SPG11 SNCA PRKN PINK1 PARK7 LRRK2
354 juvenile-onset parkinson's disease 8.5 VPS35 SNCA PRKN PLA2G6 PINK1 PARK7
355 kufor-rakeb syndrome 8.5 VPS35 SNCA PRKN PLA2G6 PINK1 PARK7

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 hypomimic face 58 31 frequent (33%) Frequent (79-30%) HP:0000338
8 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
9 intention tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002080
10 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
11 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
12 rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002063
13 visual hallucinations 58 31 frequent (33%) Frequent (79-30%) HP:0002367
14 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
15 shuffling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002362
16 neurogenic bladder 58 31 frequent (33%) Frequent (79-30%) HP:0000011
17 slow saccadic eye movements 58 31 frequent (33%) Frequent (79-30%) HP:0000514
18 postural instability 58 31 frequent (33%) Frequent (79-30%) HP:0002172
19 substantia nigra gliosis 58 31 frequent (33%) Frequent (79-30%) HP:0011960
20 monotonic speech 58 31 frequent (33%) Frequent (79-30%) HP:0031435
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:

56
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

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 ATP13A2 FA2H FBXO7 GAK LRRK2 PANK2
2 cellular MP:0005384 9.77 ATP13A2 CUL1 FBXO7 GAK LRRK2 PANK2
3 nervous system MP:0003631 9.4 ATP13A2 FA2H GAK LRRK2 PANK2 PARK7

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diagnosis of Parkinson's Disease Using Diffusion Magnetic Resonance Imaging Completed NCT01715727

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
Brain, Liver, Eye, Kidney, Bone, Heart, Thyroid

Publications for Parkinson Disease 15, Autosomal Recessive Early-Onset

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

(show all 14)
# Title Authors PMID Year
1
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. 56 6
19038853 2009
2
Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays. 56 6
18513678 2008
3
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 6
23279440 2013
4
Pallido-pyramidal syndrome: a rare entity. 56
17337817 2007
5
Pallido-pyramidal syndrome with blepharospasm and good response to levodopa. 56
16362831 2005
6
Parkinson Disease Overview 6
20301402 2004
7
Familial levodopa-responsive parkinsonian-pyramidal syndrome. 56
7845409 1994
8
Pallido-pyramidal syndrome treated with levodopa. 56
1151403 1975
9
Familial progressive pallidum atrophy. 56
5444533 1970
10
[Progressive pallidal atrophy]. 56
5644941 1968
11
[CLINICAL CONTRIBUTION TO THE PATHOLOGICAL ASPECT OF PROGRESSIVE ATROPHY OF THE PALLIDUM (VAN BOGAERT)]. 56
14052483 1963
12
Pallido-pyramidal disease. 56
13118374 1954
13
Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike. 61
29983692 2018
14
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 all 22) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBXO7 NM_012179.4(FBXO7):c.65C>T (p.Thr22Met)SNV Pathogenic 4811 rs121918305 22:32871054-32871054 22:32475067-32475067
2 FBXO7 NM_012179.4(FBXO7):c.1132C>G (p.Arg378Gly)SNV Pathogenic 4808 rs71799110 22:32889256-32889256 22:32493269-32493269
3 FBXO7 NM_012179.4(FBXO7):c.1492C>T (p.Arg498Ter)SNV Pathogenic 4809 rs121918304 22:32894440-32894440 22:32498453-32498453
4 FBXO7 NM_012179.4(FBXO7):c.1144+1G>TSNV Pathogenic 4810 rs730880272 22:32889269-32889269 22:32493282-32493282
5 FBXO7 NM_012179.4(FBXO7):c.152del (p.Asn51fs)deletion Pathogenic 488517 rs1228608709 22:32874996-32874996 22:32479009-32479009
6 FBXO7 NM_012179.4(FBXO7):c.1206_1207dup (p.Arg403fs)duplication Pathogenic 641981 22:32894152-32894153 22:32498165-32498166
7 FBXO7 NM_012179.4(FBXO7):c.122+9G>ASNV Conflicting interpretations of pathogenicity 341307 rs192327462 22:32871120-32871120 22:32475133-32475133
8 FBXO7 NM_012179.4(FBXO7):c.693C>T (p.Ser231=)SNV Conflicting interpretations of pathogenicity 341312 rs61752254 22:32881102-32881102 22:32485115-32485115
9 FBXO7 NM_012179.4(FBXO7):c.1546G>C (p.Asp516His)SNV Conflicting interpretations of pathogenicity 444586 rs34316445 22:32894494-32894494 22:32498507-32498507
10 FBXO7 NM_012179.4(FBXO7):c.260T>C (p.Ile87Thr)SNV Uncertain significance 225358 rs780055842 22:32875105-32875105 22:32479118-32479118
11 FBXO7 NM_012179.4(FBXO7):c.722_723CT[2] (p.Cys243fs)short repeat Uncertain significance 631890 rs1290655316 22:32881131-32881132 22:32485144-32485145
12 FBXO7 NM_012179.4(FBXO7):c.1263_1267CATTC[3] (p.Tyr425fs)short repeat Uncertain significance 631891 rs749534144 22:32894209-32894210 22:32498222-32498223
13 FBXO7 NM_012179.4(FBXO7):c.169A>G (p.Thr57Ala)SNV Uncertain significance 640301 22:32875014-32875014 22:32479027-32479027
14 FBXO7 NM_012179.4(FBXO7):c.697G>A (p.Val233Met)SNV Uncertain significance 648239 22:32881106-32881106 22:32485119-32485119
15 FBXO7 NM_012179.4(FBXO7):c.1070C>T (p.Ala357Val)SNV Uncertain significance 652909 22:32889194-32889194 22:32493207-32493207
16 FBXO7 NM_012179.4(FBXO7):c.1385G>T (p.Ser462Ile)SNV Uncertain significance 655787 22:32894333-32894333 22:32498346-32498346
17 FBXO7 NM_012179.4(FBXO7):c.1536_1539del (p.Arg513fs)deletion Uncertain significance 640811 22:32894482-32894485 22:32498495-32498498
18 FBXO7 NM_012179.4(FBXO7):c.601G>A (p.Val201Met)SNV Likely benign 533897 rs61730783 22:32880067-32880067 22:32484080-32484080
19 FBXO7 NM_012179.4(FBXO7):c.540A>G (p.Pro180=)SNV Benign/Likely benign 341311 rs41311141 22:32880006-32880006 22:32484019-32484019
20 FBXO7 NM_012179.4(FBXO7):c.122+272T>GSNV Benign 518326 rs8137714 22:32871383-32871383 22:32475396-32475396
21 FBXO7 NM_012179.4(FBXO7):c.345G>A (p.Met115Ile)SNV Benign 195275 rs11107 22:32875190-32875190 22:32479203-32479203
22 FBXO7 NM_012179.4(FBXO7):c.949C>T (p.Leu317=)SNV Benign 341314 rs9726 22:32887150-32887150 22:32491163-32491163

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

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

# Super pathways Score Top Affiliating Genes
1 11.7 SNCA PRKN PINK1 PARK7 LRRK2 FBXO7
2 11.28 SNCA PRKN PINK1 PARK7 LRRK2
3 10.98 SKP1 PRKN CUL1
4 10.84 SNCA PRKN PARK7
5
Show member pathways
10.32 SKP1 CUL1

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 14)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.37 VPS35 SPG11 SNCA SKP1 PSMF1 PRKN
2 cytosol GO:0005829 10.06 VPS35 SPG11 SNCA SKP1 PSMF1 PRKN
3 cell GO:0005623 9.97 SPG11 SNCA SKP1 PRKN PLA2G6 PARK7
4 perinuclear region of cytoplasm GO:0048471 9.95 VPS35 SNCA PSMF1 PRKN PINK1 PARK7
5 neuron projection GO:0043005 9.91 VPS35 PRKN PARK7 LRRK2 ATP13A2
6 axon GO:0030424 9.89 SPG11 SNCA PINK1 PARK7 LRRK2
7 postsynapse GO:0098794 9.71 VPS35 SNCA LRRK2
8 mitochondrion GO:0005739 9.7 VPS35 SNCA SLC25A41 PRKN PLA2G6 PINK1
9 mitochondrial intermembrane space GO:0005758 9.67 SNCA PINK1 PARK7 PANK2
10 presynapse GO:0098793 9.65 VPS35 SNCA PRKN PARK7 GAK
11 Lewy body GO:0097413 9.48 PRKN PINK1
12 Parkin-FBXW7-Cul1 ubiquitin ligase complex GO:1990452 9.46 PRKN CUL1
13 mitochondrion-derived vesicle GO:0099073 9.43 VPS35 PRKN
14 SCF ubiquitin ligase complex GO:0019005 9.1 SKP1 PRKN FBXO7 FBXO48 FBXL18 CUL1

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

(show top 50) (show all 64)
# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 10.12 SKP1 PRKN PINK1 FBXO7 CUL1
2 post-translational protein modification GO:0043687 10.06 SKP1 PSMF1 FBXO7 FBXL18 CUL1
3 ubiquitin-dependent protein catabolic process GO:0006511 10.02 SKP1 PSMF1 PRKN PINK1 FBXO7 CUL1
4 negative regulation of gene expression GO:0010629 10.01 VPS35 PRKN PINK1 PARK7
5 negative regulation of neuron apoptotic process GO:0043524 9.96 SNCA PRKN PINK1 PARK7
6 protein polyubiquitination GO:0000209 9.95 SKP1 PSMF1 PRKN FBXO7 FBXL18 CUL1
7 response to oxidative stress GO:0006979 9.94 PRKN PINK1 LRRK2 C19orf12
8 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.91 SKP1 PSMF1 CUL1
9 mitochondrion organization GO:0007005 9.91 PRKN PINK1 PARK7 LRRK2
10 regulation of protein stability GO:0031647 9.9 VPS35 PRKN LRRK2 FBXO7
11 interleukin-1-mediated signaling pathway GO:0070498 9.89 SKP1 PSMF1 CUL1
12 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.89 SNCA PINK1 PARK7
13 regulation of mitotic cell cycle phase transition GO:1901990 9.88 SKP1 PSMF1 CUL1
14 negative regulation of cell death GO:0060548 9.88 VPS35 PRKN PARK7
15 NIK/NF-kappaB signaling GO:0038061 9.88 SKP1 PSMF1 CUL1
16 negative regulation of G2/M transition of mitotic cell cycle GO:0010972 9.88 SKP1 PSMF1 CUL1
17 negative regulation of protein phosphorylation GO:0001933 9.88 SNCA PRKN PARK7 LRRK2
18 cellular iron ion homeostasis GO:0006879 9.87 SKP1 CUL1 ATP13A2
19 adult locomotory behavior GO:0008344 9.85 SNCA PRKN PARK7
20 protein destabilization GO:0031648 9.85 VPS35 SNCA PRKN
21 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.85 SKP1 PSMF1 FBXO48 FBXL18 CUL1
22 cellular response to oxidative stress GO:0034599 9.83 SNCA PINK1 PARK7 LRRK2 ATP13A2
23 lysosome organization GO:0007040 9.82 VPS35 SPG11 LRRK2
24 autophagy of mitochondrion GO:0000422 9.82 PRKN PINK1 FBXO7
25 autophagy GO:0006914 9.8 PRKN PINK1 PARK7 LRRK2 C19orf12 ATP13A2
26 regulation of reactive oxygen species metabolic process GO:2000377 9.79 SNCA PRKN PINK1
27 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.77 PRKN PARK7 LRRK2
28 synaptic transmission, dopaminergic GO:0001963 9.76 SNCA PRKN PARK7
29 negative regulation of oxidative stress-induced neuron death GO:1903204 9.74 PINK1 PARK7 FBXO7
30 regulation of neuron death GO:1901214 9.73 SNCA LRRK2
31 regulation of protein ubiquitination GO:0031396 9.73 PRKN PINK1
32 synaptic vesicle transport GO:0048489 9.73 SPG11 SNCA
33 regulation of autophagy of mitochondrion GO:1903146 9.73 PINK1 ATP13A2
34 positive regulation of mitochondrial fission GO:0090141 9.73 VPS35 PRKN PINK1
35 cellular response to dopamine GO:1903351 9.72 PRKN LRRK2
36 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.72 PARK7 LRRK2
37 negative regulation of autophagosome assembly GO:1902902 9.72 PINK1 LRRK2
38 dopamine metabolic process GO:0042417 9.72 SNCA PRKN
39 negative regulation of macroautophagy GO:0016242 9.71 PINK1 LRRK2
40 negative regulation of oxidative stress-induced cell death GO:1903202 9.71 PRKN PINK1 PARK7
41 regulation of protein targeting to mitochondrion GO:1903214 9.7 PRKN PINK1
42 cellular response to toxic substance GO:0097237 9.7 PRKN PINK1
43 cellular response to manganese ion GO:0071287 9.7 PRKN LRRK2 ATP13A2
44 protein localization to mitochondrion GO:0070585 9.69 PRKN LRRK2
45 positive regulation of histone deacetylase activity GO:1901727 9.69 PINK1 LRRK2
46 regulation of locomotion GO:0040012 9.69 SNCA LRRK2 FBXO7
47 regulation of cellular response to oxidative stress GO:1900407 9.68 PRKN PINK1
48 SCF complex assembly GO:0010265 9.68 SKP1 CUL1
49 positive regulation of mitophagy in response to mitochondrial depolarization GO:0098779 9.67 PRKN PINK1
50 zinc ion homeostasis GO:0055069 9.67 PRKN ATP13A2

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 protein ligase binding GO:0031625 9.46 PRKN PINK1 FBXO7 CUL1
2 ubiquitin-specific protease binding GO:1990381 9.37 PRKN PARK7
3 cullin family protein binding GO:0097602 9.32 SKP1 PRKN
4 phospholipase binding GO:0043274 9.26 SNCA PRKN
5 cuprous ion binding GO:1903136 8.96 SNCA PARK7
6 cupric ion binding GO:1903135 8.62 PARK7 ATP13A2

Sources for Parkinson Disease 15, Autosomal Recessive Early-Onset

3 CDC
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