PARK13
MCID: PRK096
MIFTS: 25

Parkinson Disease 13, Autosomal Dominant (PARK13)

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

Aliases & Classifications for Parkinson Disease 13, Autosomal Dominant

MalaCards integrated aliases for Parkinson Disease 13, Autosomal Dominant:

Name: Parkinson Disease 13, Autosomal Dominant 56
Parkinson Disease 13 56 73 29 13 6 71
Park13 56 73
Parkinson Disease 13, Autosomal Dominant, Susceptibility to 56
Parkinson Disease, Type 13 39

Characteristics:

HPO:

31
parkinson disease 13, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 610297
OMIM Phenotypic Series 56 PS168600
MeSH 43 D010300
MedGen 41 C1853202
UMLS 71 C3496588

Summaries for Parkinson Disease 13, Autosomal Dominant

UniProtKB/Swiss-Prot : 73 Parkinson disease 13: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.

MalaCards based summary : Parkinson Disease 13, Autosomal Dominant, is also known as parkinson disease 13. An important gene associated with Parkinson Disease 13, Autosomal Dominant is HTRA2 (HtrA Serine Peptidase 2). The drugs Levodopa and Dihydroxyphenylalanine have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are tremor and rigidity

More information from OMIM: 610297 PS168600

Symptoms & Phenotypes for Parkinson Disease 13, Autosomal Dominant

Human phenotypes related to Parkinson Disease 13, Autosomal Dominant:

31
# Description HPO Frequency HPO Source Accession
1 tremor 31 HP:0001337
2 rigidity 31 HP:0002063
3 bradykinesia 31 HP:0002067
4 parkinsonism with favorable response to dopaminergic medication 31 HP:0002548

Clinical features from OMIM:

610297

Drugs & Therapeutics for Parkinson Disease 13, Autosomal Dominant

Drugs for Parkinson Disease 13, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levodopa Approved Phase 2 59-92-7 6047
2 Dihydroxyphenylalanine Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 13-week, Double-blind, Placebo-controlled, Fixed-dose, Multicenter Study to Evaluate the Efficacy and Safety of AFQ056 in Reducing Moderate to Severe L-dopa Induced Dyskinesias in Patients With Parkinson's Disease Completed NCT00986414 Phase 2 AFQ056;AFQ056;AFQ056;AFQ056;AFQ056;Placebo

Search NIH Clinical Center for Parkinson Disease 13, Autosomal Dominant

Genetic Tests for Parkinson Disease 13, Autosomal Dominant

Genetic tests related to Parkinson Disease 13, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Parkinson Disease 13 29 HTRA2

Anatomical Context for Parkinson Disease 13, Autosomal Dominant

MalaCards organs/tissues related to Parkinson Disease 13, Autosomal Dominant:

40
Brain

Publications for Parkinson Disease 13, Autosomal Dominant

Articles related to Parkinson Disease 13, Autosomal Dominant:

# Title Authors PMID Year
1
Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls. 6 56
18364387 2008
2
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. 56 6
15961413 2005
3
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 6
23279440 2013
4
Novel variant Pro143Ala in HTRA2 contributes to Parkinson's disease by inducing hyperphosphorylation of HTRA2 protein in mitochondria. 6
21701785 2011
5
Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease. 6
18401856 2008
6
Parkinson Disease Overview 6
20301402 2004
7
Bornaprine vs placebo in Parkinson disease: double-blind controlled cross-over trial in 30 patients. 61
3514543 1986

Variations for Parkinson Disease 13, Autosomal Dominant

ClinVar genetic disease variations for Parkinson Disease 13, Autosomal Dominant:

6 (show all 48) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HTRA2 NM_013247.4(HTRA2):c.427C>G (p.Pro143Ala)SNV risk factor 30583 rs387906942 2:74757560-74757560 2:74530433-74530433
2 HTRA2 NM_013247.4(HTRA2):c.215T>C (p.Leu72Pro)SNV Conflicting interpretations of pathogenicity 337127 rs150047108 2:74757348-74757348 2:74530221-74530221
3 HTRA2 NM_181575.5(AUP1):c.-17C>TSNV Uncertain significance 896015 2:74756773-74756773 2:74529646-74529646
4 HTRA2 NM_013247.5(HTRA2):c.1079G>A (p.Arg360His)SNV Uncertain significance 896083 2:74759016-74759016 2:74531889-74531889
5 HTRA2 NM_181575.5(AUP1):c.141C>T (p.Ile47=)SNV Uncertain significance 896013 2:74756536-74756536 2:74529409-74529409
6 HTRA2 NM_013247.4(HTRA2):c.-136C>GSNV Uncertain significance 337125 rs886056343 2:74756998-74756998 2:74529871-74529871
7 HTRA2 NM_013247.4(HTRA2):c.507-9C>ASNV Uncertain significance 337131 rs151291127 2:74757735-74757735 2:74530608-74530608
8 HTRA2 NM_013247.4(HTRA2):c.-86G>CSNV Uncertain significance 337126 rs886056344 2:74757048-74757048 2:74529921-74529921
9 HTRA2 NM_013247.4(HTRA2):c.507-10T>ASNV Uncertain significance 337130 rs747756166 2:74757734-74757734 2:74530607-74530607
10 HTRA2 NM_013247.4(HTRA2):c.825T>C (p.Val275=)SNV Uncertain significance 337133 rs777650346 2:74758151-74758151 2:74531024-74531024
11 HTRA2 NM_032603.5(LOXL3):c.*972T>CSNV Uncertain significance 337136 rs758108369 2:74759761-74759761 2:74532634-74532634
12 HTRA2 NM_032603.5(LOXL3):c.*372C>GSNV Uncertain significance 337140 rs775428682 2:74760361-74760361 2:74533234-74533234
13 HTRA2 NM_013247.4(HTRA2):c.-236G>CSNV Uncertain significance 337122 rs886056341 2:74756898-74756898 2:74529771-74529771
14 HTRA2 NM_013247.4(HTRA2):c.241G>A (p.Ala81Thr)SNV Uncertain significance 337128 rs886056345 2:74757374-74757374 2:74530247-74530247
15 HTRA2 NM_013247.4(HTRA2):c.873T>C (p.Asn291=)SNV Uncertain significance 337134 rs775948550 2:74758199-74758199 2:74531072-74531072
16 HTRA2 NM_013247.4(HTRA2):c.1046-13C>TSNV Uncertain significance 337135 rs542851656 2:74758970-74758970 2:74531843-74531843
17 HTRA2 NM_032603.5(LOXL3):c.*330C>TSNV Uncertain significance 337141 rs886056347 2:74760403-74760403 2:74533276-74533276
18 HTRA2 NM_181575.5(AUP1):c.-19C>TSNV Uncertain significance 337120 rs886056340 2:74756775-74756775 2:74529648-74529648
19 HTRA2 NM_181575.5(AUP1):c.-64C>TSNV Uncertain significance 337121 rs377647662 2:74756820-74756820 2:74529693-74529693
20 HTRA2 NM_145074.2(HTRA2):c.-136C>TSNV Uncertain significance 897610 2:74756998-74756998 2:74529871-74529871
21 HTRA2 NM_013247.5(HTRA2):c.77G>A (p.Gly26Glu)SNV Uncertain significance 898769 2:74757210-74757210 2:74530083-74530083
22 HTRA2 NM_013247.5(HTRA2):c.937C>T (p.Leu313=)SNV Uncertain significance 895797 2:74758496-74758496 2:74531369-74531369
23 HTRA2 NM_013247.5(HTRA2):c.1056C>T (p.Ser352=)SNV Uncertain significance 895799 2:74758993-74758993 2:74531866-74531866
24 HTRA2 NM_013247.5(HTRA2):c.*265C>TSNV Uncertain significance 896084 2:74760377-74760377 2:74533250-74533250
25 HTRA2 NM_013247.5(HTRA2):c.*267C>TSNV Uncertain significance 897673 2:74760379-74760379 2:74533252-74533252
26 HTRA2 NM_181575.5(AUP1):c.25C>T (p.Pro9Ser)SNV Uncertain significance 337118 rs777371915 2:74756732-74756732 2:74529605-74529605
27 HTRA2 NM_013247.4(HTRA2):c.-216G>ASNV Uncertain significance 337123 rs886056342 2:74756918-74756918 2:74529791-74529791
28 HTRA2 NM_032603.5(LOXL3):c.*652G>ASNV Uncertain significance 337138 rs886056346 2:74760081-74760081 2:74532954-74532954
29 HTRA2 NM_032603.5(LOXL3):c.*108A>TSNV Uncertain significance 337144 rs886056348 2:74760625-74760625 2:74533498-74533498
30 HTRA2 NM_032603.5(LOXL3):c.*84C>TSNV Uncertain significance 337146 rs886056349 2:74760649-74760649 2:74533522-74533522
31 HTRA2 NM_181575.5(AUP1):c.-15C>TSNV Likely benign 337119 rs371791263 2:74756771-74756771 2:74529644-74529644
32 HTRA2 NM_181575.5(AUP1):c.90C>G (p.Leu30=)SNV Likely benign 337117 rs376231592 2:74756587-74756587 2:74529460-74529460
33 HTRA2 NM_013247.5(HTRA2):c.1046-5C>GSNV Likely benign 895798 2:74758978-74758978 2:74531851-74531851
34 HTRA2 NM_032603.5(LOXL3):c.*948G>ASNV Likely benign 337137 rs150357486 2:74759785-74759785 2:74532658-74532658
35 HTRA2 NM_181575.5(AUP1):c.51-4C>TSNV Likely benign 896014 2:74756630-74756630 2:74529503-74529503
36 HTRA2 NM_013247.4(HTRA2):c.354G>A (p.Leu118=)SNV Likely benign 727861 2:74757487-74757487 2:74530360-74530360
37 HTRA2 NM_013247.4(HTRA2):c.510C>T (p.His170=)SNV Likely benign 741628 2:74757747-74757747 2:74530620-74530620
38 HTRA2 NM_181575.5(AUP1):c.-54C>TSNV Likely benign 897609 2:74756810-74756810 2:74529683-74529683
39 HTRA2 NM_013247.4(HTRA2):c.627A>G (p.Arg209=)SNV Likely benign 337132 rs149169879 2:74757864-74757864 2:74530737-74530737
40 HTRA2 NM_032603.5(LOXL3):c.*908C>TSNV Benign/Likely benign 4341 rs72470545 2:74759825-74759825 2:74532698-74532698
41 HTRA2 NM_013247.4(HTRA2):c.421G>T (p.Ala141Ser)SNV Benign 4342 rs72470544 2:74757554-74757554 2:74530427-74530427
42 HTRA2 NM_013247.4(HTRA2):c.-146G>ASNV Benign 337124 rs569404179 2:74756988-74756988 2:74529861-74529861
43 HTRA2 NM_032603.5(LOXL3):c.*527G>ASNV Benign 337139 rs79220020 2:74760206-74760206 2:74533079-74533079
44 HTRA2 NM_032603.5(LOXL3):c.*237G>TSNV Benign 337142 rs71640295 2:74760496-74760496 2:74533369-74533369
45 HTRA2 NM_032603.5(LOXL3):c.*178A>TSNV Benign 337143 rs71640296 2:74760555-74760555 2:74533428-74533428
46 HTRA2 NM_032603.5(LOXL3):c.*90T>CSNV Benign 337145 rs114661282 2:74760643-74760643 2:74533516-74533516
47 HTRA2 NM_181575.5(AUP1):c.129C>G (p.Leu43=)SNV Benign 337116 rs1183739 2:74756548-74756548 2:74529421-74529421
48 HTRA2 NM_013247.4(HTRA2):c.480C>G (p.Ala160=)SNV Benign 337129 rs2231248 2:74757613-74757613 2:74530486-74530486

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 13, Autosomal Dominant:

73
# Symbol AA change Variation ID SNP ID
1 HTRA2 p.Arg404Trp VAR_046135 rs138079470

Expression for Parkinson Disease 13, Autosomal Dominant

Search GEO for disease gene expression data for Parkinson Disease 13, Autosomal Dominant.

Pathways for Parkinson Disease 13, Autosomal Dominant

GO Terms for Parkinson Disease 13, Autosomal Dominant

Sources for Parkinson Disease 13, Autosomal Dominant

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