PARK13
MCID: PRK096
MIFTS: 22

Parkinson Disease 13, Autosomal Dominant (PARK13)

Categories: Eye diseases, 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 57
Parkinson Disease 13 57 73 29 13 6 71
Park13 57 73
Parkinson Disease 13, Autosomal Dominant, Susceptibility to 57
Parkinson Disease, Type 13 39

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM® 57 610297
OMIM Phenotypic Series 57 PS168600
MeSH 44 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). 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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Parkinson Disease 13, Autosomal Dominant

Search Clinical Trials , 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

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. 57 6
18364387 2008
2
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. 6 57
15961413 2005
3
Novel variant Pro143Ala in HTRA2 contributes to Parkinson's disease by inducing hyperphosphorylation of HTRA2 protein in mitochondria. 6
21701785 2011
4
Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease. 6
18401856 2008
5
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_013247.5(HTRA2):c.937C>T (p.Leu313=) SNV Uncertain significance 895797 2:74758496-74758496 2:74531369-74531369
3 HTRA2 NM_013247.4(HTRA2):c.1046-13C>T SNV Uncertain significance 337135 rs542851656 2:74758970-74758970 2:74531843-74531843
4 HTRA2 NM_032603.5(LOXL3):c.*372C>G SNV Uncertain significance 337140 rs775428682 2:74760361-74760361 2:74533234-74533234
5 HTRA2 NM_032603.5(LOXL3):c.*84C>T SNV Uncertain significance 337146 rs886056349 2:74760649-74760649 2:74533522-74533522
6 HTRA2 NM_013247.4(HTRA2):c.241G>A (p.Ala81Thr) SNV Uncertain significance 337128 rs886056345 2:74757374-74757374 2:74530247-74530247
7 HTRA2 NM_013247.4(HTRA2):c.825T>C (p.Val275=) SNV Uncertain significance 337133 rs777650346 2:74758151-74758151 2:74531024-74531024
8 HTRA2 NM_032603.5(LOXL3):c.*972T>C SNV Uncertain significance 337136 rs758108369 2:74759761-74759761 2:74532634-74532634
9 HTRA2 NM_013247.4(HTRA2):c.507-10T>A SNV Uncertain significance 337130 rs747756166 2:74757734-74757734 2:74530607-74530607
10 HTRA2 NM_032603.5(LOXL3):c.*652G>A SNV Uncertain significance 337138 rs886056346 2:74760081-74760081 2:74532954-74532954
11 HTRA2 NM_032603.5(LOXL3):c.*330C>T SNV Uncertain significance 337141 rs886056347 2:74760403-74760403 2:74533276-74533276
12 HTRA2 NM_013247.4(HTRA2):c.507-9C>A SNV Uncertain significance 337131 rs151291127 2:74757735-74757735 2:74530608-74530608
13 HTRA2 NM_013247.4(HTRA2):c.-86G>C SNV Uncertain significance 337126 rs886056344 2:74757048-74757048 2:74529921-74529921
14 HTRA2 NM_032603.5(LOXL3):c.*108A>T SNV Uncertain significance 337144 rs886056348 2:74760625-74760625 2:74533498-74533498
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_013247.5(HTRA2):c.1056C>T (p.Ser352=) SNV Uncertain significance 895799 2:74758993-74758993 2:74531866-74531866
17 HTRA2 NM_013247.5(HTRA2):c.1079G>A (p.Arg360His) SNV Uncertain significance 896083 2:74759016-74759016 2:74531889-74531889
18 HTRA2 NM_013247.5(HTRA2):c.*265C>T SNV Uncertain significance 896084 2:74760377-74760377 2:74533250-74533250
19 HTRA2 NM_013247.5(HTRA2):c.*267C>T SNV Uncertain significance 897673 2:74760379-74760379 2:74533252-74533252
20 HTRA2 NM_013247.5(HTRA2):c.77G>A (p.Gly26Glu) SNV Uncertain significance 898769 2:74757210-74757210 2:74530083-74530083
21 HTRA2 NM_013247.4(HTRA2):c.-216G>A SNV Uncertain significance 337123 rs886056342 2:74756918-74756918 2:74529791-74529791
22 AUP1 NM_181575.5(AUP1):c.-19C>T SNV Uncertain significance 337120 rs886056340 2:74756775-74756775 2:74529648-74529648
23 AUP1 NM_181575.5(AUP1):c.25C>T (p.Pro9Ser) SNV Uncertain significance 337118 rs777371915 2:74756732-74756732 2:74529605-74529605
24 AUP1 NM_181575.5(AUP1):c.-64C>T SNV Uncertain significance 337121 rs377647662 2:74756820-74756820 2:74529693-74529693
25 HTRA2 NM_013247.4(HTRA2):c.-236G>C SNV Uncertain significance 337122 rs886056341 2:74756898-74756898 2:74529771-74529771
26 HTRA2 NM_013247.4(HTRA2):c.-136C>G SNV Uncertain significance 337125 rs886056343 2:74756998-74756998 2:74529871-74529871
27 AUP1 NM_181575.5(AUP1):c.141C>T (p.Ile47=) SNV Uncertain significance 896013 2:74756536-74756536 2:74529409-74529409
28 AUP1 NM_181575.5(AUP1):c.-17C>T SNV Uncertain significance 896015 2:74756773-74756773 2:74529646-74529646
29 HTRA2 NM_145074.2(HTRA2):c.-136C>T SNV Uncertain significance 897610 2:74756998-74756998 2:74529871-74529871
30 HTRA2 NM_032603.5(LOXL3):c.*908C>T SNV Likely benign 4341 rs72470545 2:74759825-74759825 2:74532698-74532698
31 AUP1 NM_181575.5(AUP1):c.-54C>T SNV Likely benign 897609 2:74756810-74756810 2:74529683-74529683
32 AUP1 NM_181575.5(AUP1):c.51-4C>T SNV Likely benign 896014 2:74756630-74756630 2:74529503-74529503
33 HTRA2 NM_013247.4(HTRA2):c.627A>G (p.Arg209=) SNV Likely benign 337132 rs149169879 2:74757864-74757864 2:74530737-74530737
34 HTRA2 NM_013247.4(HTRA2):c.510C>T (p.His170=) SNV Likely benign 741628 rs200747610 2:74757747-74757747 2:74530620-74530620
35 AUP1 NM_181575.5(AUP1):c.90C>G (p.Leu30=) SNV Likely benign 337117 rs376231592 2:74756587-74756587 2:74529460-74529460
36 HTRA2 NM_013247.4(HTRA2):c.354G>A (p.Leu118=) SNV Likely benign 727861 rs199735424 2:74757487-74757487 2:74530360-74530360
37 AUP1 NM_181575.5(AUP1):c.-15C>T SNV Likely benign 337119 rs371791263 2:74756771-74756771 2:74529644-74529644
38 HTRA2 NM_032603.5(LOXL3):c.*948G>A SNV Likely benign 337137 rs150357486 2:74759785-74759785 2:74532658-74532658
39 HTRA2 NM_013247.5(HTRA2):c.1046-5C>G SNV Likely benign 895798 2:74758978-74758978 2:74531851-74531851
40 HTRA2 NM_013247.4(HTRA2):c.421G>T (p.Ala141Ser) SNV Benign 4342 rs72470544 2:74757554-74757554 2:74530427-74530427
41 HTRA2 NM_032603.5(LOXL3):c.*178A>T SNV Benign 337143 rs71640296 2:74760555-74760555 2:74533428-74533428
42 HTRA2 NM_032603.5(LOXL3):c.*90T>C SNV Benign 337145 rs114661282 2:74760643-74760643 2:74533516-74533516
43 HTRA2 NM_032603.5(LOXL3):c.*527G>A SNV Benign 337139 rs79220020 2:74760206-74760206 2:74533079-74533079
44 HTRA2 NM_032603.5(LOXL3):c.*237G>T SNV Benign 337142 rs71640295 2:74760496-74760496 2:74533369-74533369
45 AUP1 NM_181575.5(AUP1):c.129C>G (p.Leu43=) SNV Benign 337116 rs1183739 2:74756548-74756548 2:74529421-74529421
46 HTRA2 NM_013247.4(HTRA2):c.-146G>A SNV Benign 337124 rs569404179 2:74756988-74756988 2:74529861-74529861
47 HTRA2 NM_013247.4(HTRA2):c.215T>C (p.Leu72Pro) SNV Benign 337127 rs150047108 2:74757348-74757348 2:74530221-74530221
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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57 OMIM® (Updated 05-Mar-2021)
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