Spastic Paraplegia 39 (SPG39)

MalaCards integrated aliases for Spastic Paraplegia 39:

Spastic Paraplegia 39, Autosomal Recessive 71 Nte Related Motor Neuron Disorder 52 Paraplegia, Spastic, Type 39 39

Ntemnd 52 Spg39 52

Classifications:

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant	Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant	Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23, Autosomal Recessive	Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive	Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant	Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant	Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant	Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant	Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive	Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive	Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive	Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant	Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant	Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive	Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant	Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive	Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant	Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant	Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive	Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive	Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive	Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive	Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive	Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive	Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive	Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive	Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive	Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive	Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant	Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive	Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive	Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive	Spastic Paraplegia 80, Autosomal Dominant
Hereditary Spastic Paraplegia 23	Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 72	Hereditary Spastic Paraplegia
Spastic Paraplegia 4	Spastic Paraplegia 8
Spastic Paraplegia 11	Spastic Paraplegia 10
Spastic Paraplegia 12	Spastic Paraplegia 13
Spastic Paraplegia 14	Spastic Paraplegia 15
Spastic Paraplegia 16	Spastic Paraplegia 17
Spastic Paraplegia 18	Spastic Paraplegia 19
Spastic Paraplegia 24	Spastic Paraplegia 25
Spastic Paraplegia 26	Spastic Paraplegia 29
Spastic Paraplegia 3	Spastic Paraplegia 32
Spastic Paraplegia 39	Spastic Paraplegia 47
Spastic Paraplegia 5a	Spastic Paraplegia 5b
Spastic Paraplegia 6	Spastic Paraplegia 9
Spastic Paraplegia Type 49	Autosomal Recessive Spastic Paraplegia Type 60
Autosomal Recessive Spastic Paraplegia Type 59	Autosomal Recessive Spastic Paraplegia Type 69
Autosomal Recessive Spastic Paraplegia Type 70	Autosomal Recessive Spastic Paraplegia Type 71
Autosomal Recessive Spastic Paraplegia Type 66	Autosomal Recessive Spastic Paraplegia Type 67
Autosomal Dominant Spastic Paraplegia Type 9b

Diseases related to Spastic Paraplegia 39 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	spastic paraplegia 39, autosomal recessive	12.8
2	boucher-neuhauser syndrome	11.3
3	mucolipidosis	9.4	PNPLA6 MCOLN1
4	retinal degeneration	9.2	PNPLA6 MCOLN1

Genetic tests related to Spastic Paraplegia 39:

#	Genetic test	Affiliating Genes
1	Spastic Paraplegia 39 29	PNPLA6

Articles related to Spastic Paraplegia 39:

#	Title	Authors	PMID	Year
1	Primary progressive multiple sclerosis and neurofibromatosis type 1. 61	Iwanowski P...Losy J	31048186	2019
2	Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia. 61	Schubert SF...Dekomien G	26714052	2016
3	Delayed Induction of Human NTE (PNPLA6) Rescues Neurodegeneration and Mobility Defects of Drosophila swiss cheese (sws) Mutants. 61	Sujkowski A...Wessells RJ	26671664	2015
4	PNPLA6-Related Disorders 61	Synofzik M...Zuchner S	25299038	2014
5	Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. 61	Yoon G...Ray PN	23733235	2013
6	Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61	Fink JK	23897027	2013
7	Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish. 61	Song Y...Gong Y	22996643	2013
8	Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61	Finsterer J...Stevanin G	22554690	2012
9	Constructs of human neuropathy target esterase catalytic domain containing mutations related to motor neuron disease have altered enzymatic properties. 61	Hein ND...Richardson RJ	20382209	2010

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PNPLA6	Patatin Like Phospholipase Domain Containing 6	Protein Coding	519.46	Pathogenic 6 Genetic Tests 29 GeneCards inferred via : Disorders Variants (show sections)
2	MCOLN1	Mucolipin 1	Protein Coding	7.81	GeneCards inferred via : Variants (show sections)

ClinVar genetic disease variations for Spastic Paraplegia 39:

⁶ (show top 50) (show all 57) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PNPLA6	NM_006702.5(PNPLA6):c.3034A>G (p.Met1012Val)	SNV	Pathogenic	6605	rs121434415	19:7621393-7621393	19:7556507-7556507
2	PNPLA6	NM_006702.5(PNPLA6):c.2669G>A (p.Arg890His)	SNV	Pathogenic	6606	rs121434416	19:7619927-7619927	19:7555041-7555041
3	PNPLA6	NM_006702.5(PNPLA6):c.2944_2947dup (p.Arg983fs)	duplication	Pathogenic	6607	rs606231167	19:7620610-7620611	19:7555724-7555725
4	PNPLA6	NM_006702.5(PNPLA6):c.643G>A (p.Val215Ile)	SNV	Pathogenic	101043	rs587777184	19:7605561-7605561	19:7540675-7540675
5	PNPLA6	NM_006702.5(PNPLA6):c.2375G>A (p.Gly792Glu)	SNV	Pathogenic	101044	rs587777185	19:7619464-7619464	19:7554578-7554578
6	PNPLA6	NM_006702.5(PNPLA6):c.3811del (p.Asp1271fs)	deletion	Pathogenic	409950	rs1060502664	19:7626105-7626105	19:7561219-7561219
7	PNPLA6	NM_006702.5(PNPLA6):c.2291dup (p.Thr765fs)	duplication	Pathogenic	469616	rs1555749683	19:7619096-7619097	19:7554210-7554211
8	PNPLA6	NM_006702.5(PNPLA6):c.3389G>A (p.Trp1130Ter)	SNV	Pathogenic	469619	rs1555751597	19:7623841-7623841	19:7558955-7558955
9	PNPLA6	NM_006702.5(PNPLA6):c.2369del (p.Leu790fs)	deletion	Pathogenic	569546	rs756542477	19:7619458-7619458	19:7554572-7554572
10	PNPLA6	NM_006702.5(PNPLA6):c.3186del (p.Arg1063fs)	deletion	Pathogenic	571226	rs756591718	19:7622073-7622073	19:7557187-7557187
11	PNPLA6	NM_006702.5(PNPLA6):c.1736C>T (p.Ala579Val)	SNV	Pathogenic	807470		19:7615222-7615222	19:7550336-7550336
12	PNPLA6	NM_006702.5(PNPLA6):c.3702+1G>A	SNV	Likely pathogenic	445982	rs1490826010	19:7625651-7625651	19:7560765-7560765
13	PNPLA6	NM_006702.5(PNPLA6):c.3241G>A (p.Gly1081Arg)	SNV	Likely pathogenic	409993	rs773955314	19:7622128-7622128	19:7557242-7557242
14	PNPLA6	NM_006702.5(PNPLA6):c.3404G>A (p.Arg1135Gln)	SNV	Conflicting interpretations of pathogenicity	372471	rs1057517802	19:7623856-7623856	19:7558970-7558970
15	PNPLA6	NM_006702.5(PNPLA6):c.3489G>A (p.Gln1163=)	SNV	Conflicting interpretations of pathogenicity	240699	rs112133109	19:7623941-7623941	19:7559055-7559055
16	PNPLA6	NM_006702.5(PNPLA6):c.2245G>A (p.Val749Met)	SNV	Conflicting interpretations of pathogenicity	425159	rs145988230	19:7618859-7618859	19:7553973-7553973
17	PNPLA6	NM_006702.5(PNPLA6):c.54A>C (p.Gly18=)	SNV	Conflicting interpretations of pathogenicity	469623	rs140825810	19:7600845-7600845	19:7535959-7535959
18	PNPLA6	NM_006702.5(PNPLA6):c.2810G>A (p.Gly937Glu)	SNV	Conflicting interpretations of pathogenicity	655912		19:7620241-7620241	19:7555355-7555355
19	PNPLA6	NM_006702.5(PNPLA6):c.3325A>G (p.Ile1109Val)	SNV	Uncertain significance	662663		19:7623777-7623777	19:7558891-7558891
20	PNPLA6	NM_006702.5(PNPLA6):c.3403C>T (p.Arg1135Trp)	SNV	Uncertain significance	657877		19:7623855-7623855	19:7558969-7558969
21	PNPLA6	NM_006702.5(PNPLA6):c.678+3G>A	SNV	Uncertain significance	638815		19:7605599-7605599	19:7540713-7540713
22	PNPLA6	NM_006702.5(PNPLA6):c.3770C>T (p.Thr1257Met)	SNV	Uncertain significance	537336	rs758549829	19:7625967-7625967	19:7561081-7561081
23	PNPLA6	NM_006702.5(PNPLA6):c.1375G>A (p.Ala459Thr)	SNV	Uncertain significance	547855	rs375397452	19:7607776-7607776	19:7542890-7542890
24	PNPLA6	NM_006702.5(PNPLA6):c.3200C>T (p.Thr1067Met)	SNV	Uncertain significance	566889	rs1202026658	19:7622087-7622087	19:7557201-7557201
25	PNPLA6	NM_006702.5(PNPLA6):c.1106G>T (p.Arg369Leu)	SNV	Uncertain significance	566946	rs150500586	19:7606924-7606924	19:7542038-7542038
26	PNPLA6	NM_006702.5(PNPLA6):c.2690del (p.Ser897fs)	deletion	Uncertain significance	632324	rs1568420077	19:7619948-7619948	19:7555062-7555062
27	PNPLA6	NM_006702.5(PNPLA6):c.3598C>G (p.Gln1200Glu)	SNV	Uncertain significance	632325	rs143072391	19:7625546-7625546	19:7560660-7560660
28	PNPLA6	NM_006702.5(PNPLA6):c.905G>T (p.Arg302Leu)	SNV	Uncertain significance	639295		19:7606424-7606424	19:7541538-7541538
29	PNPLA6	NM_006702.5(PNPLA6):c.1214C>A (p.Ala405Asp)	SNV	Uncertain significance	655050		19:7607525-7607525	19:7542639-7542639
30	PNPLA6	NM_006702.5(PNPLA6):c.2031G>T (p.Glu677Asp)	SNV	Uncertain significance	656896		19:7615957-7615957	19:7551071-7551071
31	PNPLA6	NM_006702.5(PNPLA6):c.1153C>T (p.Arg385Cys)	SNV	Uncertain significance	469613	rs763561590	19:7607464-7607464	19:7542578-7542578
32	PNPLA6	NM_006702.5(PNPLA6):c.1372G>C (p.Glu458Gln)	SNV	Uncertain significance	469615	rs372128647	19:7607773-7607773	19:7542887-7542887
33	PNPLA6	NM_006702.5(PNPLA6):c.1869T>A (p.Asn623Lys)	SNV	Uncertain significance	566641	rs1568416066	19:7615442-7615442	19:7550556-7550556
34	PNPLA6	NM_006702.5(PNPLA6):c.3096+3A>G	SNV	Uncertain significance	570132	rs1167974266	19:7621458-7621458	19:7556572-7556572
35	PNPLA6	NM_006702.5(PNPLA6):c.297-4_297-2del	short repeat	Uncertain significance	578289	rs771196056	19:7604797-7604799	19:7539911-7539913
36	PNPLA6	NM_006702.5(PNPLA6):c.1246-7C>G	SNV	Uncertain significance	581176	rs767541631	19:7607640-7607640	19:7542754-7542754
37	PNPLA6	NM_006702.5(PNPLA6):c.1313C>T (p.Ser438Leu)	SNV	Uncertain significance	567501	rs140929996	19:7607714-7607714	19:7542828-7542828
38	PNPLA6	NM_006702.5(PNPLA6):c.1561G>A (p.Asp521Asn)	SNV	Uncertain significance	573712	rs1568415448	19:7614862-7614862	19:7549976-7549976
39	PNPLA6	NM_006702.5(PNPLA6):c.3754C>T (p.Arg1252Trp)	SNV	Uncertain significance	469620	rs369159451	19:7625951-7625951	19:7561065-7561065
40	PNPLA6	NM_006702.5(PNPLA6):c.3865G>T (p.Gly1289Trp)	SNV	Uncertain significance	469622	rs1555752329	19:7626159-7626159	19:7561273-7561273
41	PNPLA6	NM_006702.5(PNPLA6):c.2374G>C (p.Gly792Arg)	SNV	Uncertain significance	537335	rs1244234383	19:7619463-7619463	19:7554577-7554577
42	PNPLA6	NM_006702.5(PNPLA6):c.3610G>A (p.Ala1204Thr)	SNV	Uncertain significance	240700	rs755872517	19:7625558-7625558	19:7560672-7560672
43	PNPLA6	NM_006702.5(PNPLA6):c.3654G>T (p.Met1218Ile)	SNV	Uncertain significance	240701	rs878854905	19:7625602-7625602	19:7560716-7560716
44	PNPLA6	NM_006702.5(PNPLA6):c.2T>C (p.Met1Thr)	SNV	Uncertain significance	240695	rs765249233	19:7600438-7600438	19:7535552-7535552
45	PNPLA6	NM_006702.5(PNPLA6):c.2981G>C (p.Ser994Thr)	SNV	Uncertain significance	240694	rs377449787	19:7621340-7621340	19:7556454-7556454
46	PNPLA6	NM_006702.5(PNPLA6):c.1405C>T (p.Arg469Trp)	SNV	Uncertain significance	409995	rs777484615	19:7607806-7607806	19:7542920-7542920
47	PNPLA6	NM_006702.5(PNPLA6):c.3230A>G (p.Asp1077Gly)	SNV	Uncertain significance	409992	rs762434726	19:7622117-7622117	19:7557231-7557231
48	PNPLA6	NM_006702.5(PNPLA6):c.3577C>G (p.Gln1193Glu)	SNV	Uncertain significance	409996	rs375024068	19:7624029-7624029	19:7559143-7559143
49	PNPLA6	NM_006702.5(PNPLA6):c.3889C>T (p.Pro1297Ser)	SNV	Uncertain significance	409994	rs151264767	19:7626183-7626183	19:7561297-7561297
50	PNPLA6	NM_006702.5(PNPLA6):c.1453G>A (p.Ala485Thr)	SNV	Uncertain significance	423302	rs763642095	19:7607932-7607932	19:7543046-7543046