SPG39
MCID: SPS038
MIFTS: 20

Spastic Paraplegia 39 (SPG39)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Spastic Paraplegia 39

MalaCards integrated aliases for Spastic Paraplegia 39:

Name: Spastic Paraplegia 39 52 29 6
Spastic Paraplegia 39, Autosomal Recessive 71
Nte Related Motor Neuron Disorder 52
Paraplegia, Spastic, Type 39 39
Ntemnd 52
Spg39 52

Classifications:



External Ids:

UMLS 71 C2677586

Summaries for Spastic Paraplegia 39

MalaCards based summary : Spastic Paraplegia 39, also known as spastic paraplegia 39, autosomal recessive, is related to spastic paraplegia 39, autosomal recessive and boucher-neuhauser syndrome. An important gene associated with Spastic Paraplegia 39 is PNPLA6 (Patatin Like Phospholipase Domain Containing 6).

Related Diseases for Spastic Paraplegia 39

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

Symptoms & Phenotypes for Spastic Paraplegia 39

Drugs & Therapeutics for Spastic Paraplegia 39

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 39

Genetic Tests for Spastic Paraplegia 39

Genetic tests related to Spastic Paraplegia 39:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 39 29 PNPLA6

Anatomical Context for Spastic Paraplegia 39

Publications for Spastic Paraplegia 39

Articles related to Spastic Paraplegia 39:

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

Variations for Spastic Paraplegia 39

ClinVar genetic disease variations for Spastic Paraplegia 39:

6 (show top 50) (show all 78) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 19:7620614-7620617 19:7555728-7555731
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 19:7619098-7619098 19:7554212-7554212
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.3186del (p.Arg1063fs)deletion Pathogenic 571226 rs756591718 19:7622073-7622073 19:7557187-7557187
10 PNPLA6 NM_006702.5(PNPLA6):c.2369del (p.Leu790fs)deletion Pathogenic 569546 rs756542477 19:7619458-7619458 19:7554572-7554572
11 PNPLA6 NM_006702.5(PNPLA6):c.3702+1G>ASNV Likely pathogenic 445982 rs1490826010 19:7625651-7625651 19:7560765-7560765
12 PNPLA6 NM_006702.5(PNPLA6):c.3241G>A (p.Gly1081Arg)SNV Likely pathogenic 409993 rs773955314 19:7622128-7622128 19:7557242-7557242
13 PNPLA6 NM_006702.5(PNPLA6):c.1563C>T (p.Asp521=)SNV Conflicting interpretations of pathogenicity 330524 rs761103593 19:7614864-7614864 19:7549978-7549978
14 PNPLA6 NM_006702.5(PNPLA6):c.3435T>C (p.Val1145=)SNV Conflicting interpretations of pathogenicity 330536 rs35770729 19:7623887-7623887 19:7559001-7559001
15 PNPLA6 NM_006702.5(PNPLA6):c.3404G>A (p.Arg1135Gln)SNV Conflicting interpretations of pathogenicity 372471 rs1057517802 19:7623856-7623856 19:7558970-7558970
16 PNPLA6 NM_006702.5(PNPLA6):c.3964G>A (p.Gly1322Ser)SNV Conflicting interpretations of pathogenicity 235634 rs145178162 19:7626428-7626428 19:7561542-7561542
17 PNPLA6 NM_006702.5(PNPLA6):c.3381C>T (p.Ser1127=)SNV Conflicting interpretations of pathogenicity 240698 rs138837774 19:7623833-7623833 19:7558947-7558947
18 PNPLA6 NM_006702.5(PNPLA6):c.3489G>A (p.Gln1163=)SNV Conflicting interpretations of pathogenicity 240699 rs112133109 19:7623941-7623941 19:7559055-7559055
19 PNPLA6 NM_006702.5(PNPLA6):c.2245G>A (p.Val749Met)SNV Conflicting interpretations of pathogenicity 425159 rs145988230 19:7618859-7618859 19:7553973-7553973
20 PNPLA6 NM_006702.5(PNPLA6):c.54A>C (p.Gly18=)SNV Conflicting interpretations of pathogenicity 469623 rs140825810 19:7600845-7600845 19:7535959-7535959
21 PNPLA6 NM_006702.5(PNPLA6):c.3577C>G (p.Gln1193Glu)SNV Uncertain significance 409996 rs375024068 19:7624029-7624029 19:7559143-7559143
22 PNPLA6 NM_006702.5(PNPLA6):c.3754C>T (p.Arg1252Trp)SNV Uncertain significance 469620 rs369159451 19:7625951-7625951 19:7561065-7561065
23 PNPLA6 NM_006702.5(PNPLA6):c.2374G>C (p.Gly792Arg)SNV Uncertain significance 537335 rs1244234383 19:7619463-7619463 19:7554577-7554577
24 PNPLA6 NM_006702.5(PNPLA6):c.1153C>T (p.Arg385Cys)SNV Uncertain significance 469613 rs763561590 19:7607464-7607464 19:7542578-7542578
25 PNPLA6 NM_006702.5(PNPLA6):c.3865G>T (p.Gly1289Trp)SNV Uncertain significance 469622 rs1555752329 19:7626159-7626159 19:7561273-7561273
26 PNPLA6 NM_006702.5(PNPLA6):c.3770C>T (p.Thr1257Met)SNV Uncertain significance 537336 rs758549829 19:7625967-7625967 19:7561081-7561081
27 PNPLA6 NM_006702.5(PNPLA6):c.297-4_297-2delshort repeat Uncertain significance 578289 rs771196056 19:7604800-7604802 19:7539914-7539916
28 PNPLA6 NM_006702.5(PNPLA6):c.1246-7C>GSNV Uncertain significance 581176 19:7607640-7607640 19:7542754-7542754
29 PNPLA6 NM_006702.5(PNPLA6):c.1313C>T (p.Ser438Leu)SNV Uncertain significance 567501 19:7607714-7607714 19:7542828-7542828
30 PNPLA6 NM_006702.5(PNPLA6):c.1561G>A (p.Asp521Asn)SNV Uncertain significance 573712 rs1568415448 19:7614862-7614862 19:7549976-7549976
31 PNPLA6 NM_006702.5(PNPLA6):c.2825G>C (p.Gly942Ala)SNV Uncertain significance 581260 19:7620495-7620495 19:7555609-7555609
32 PNPLA6 NM_006702.5(PNPLA6):c.3200C>T (p.Thr1067Met)SNV Uncertain significance 566889 rs1202026658 19:7622087-7622087 19:7557201-7557201
33 PNPLA6 NM_006702.5(PNPLA6):c.1106G>T (p.Arg369Leu)SNV Uncertain significance 566946 19:7606924-7606924 19:7542038-7542038
34 PNPLA6 NM_006702.5(PNPLA6):c.2690del (p.Ser897fs)deletion Uncertain significance 632324 rs1568420077 19:7619947-7619948 19:7555062-7555062
35 PNPLA6 NM_006702.5(PNPLA6):c.3598C>G (p.Gln1200Glu)SNV Uncertain significance 632325 rs143072391 19:7625546-7625546 19:7560660-7560660
36 PNPLA6 NM_006702.5(PNPLA6):c.905G>T (p.Arg302Leu)SNV Uncertain significance 639295 19:7606424-7606424 19:7541538-7541538
37 PNPLA6 NM_006702.5(PNPLA6):c.1214C>A (p.Ala405Asp)SNV Uncertain significance 655050 19:7607525-7607525 19:7542639-7542639
38 PNPLA6 NM_006702.5(PNPLA6):c.2031G>T (p.Glu677Asp)SNV Uncertain significance 656896 19:7615957-7615957 19:7551071-7551071
39 PNPLA6 NM_006702.5(PNPLA6):c.2810G>A (p.Gly937Glu)SNV Uncertain significance 655912 19:7620241-7620241 19:7555355-7555355
40 PNPLA6 NM_006702.5(PNPLA6):c.3325A>G (p.Ile1109Val)SNV Uncertain significance 662663 19:7623777-7623777 19:7558891-7558891
41 PNPLA6 NM_006702.5(PNPLA6):c.3403C>T (p.Arg1135Trp)SNV Uncertain significance 657877 19:7623855-7623855 19:7558969-7558969
42 PNPLA6 NM_006702.5(PNPLA6):c.678+3G>ASNV Uncertain significance 638815 19:7605599-7605599 19:7540713-7540713
43 PNPLA6 NM_006702.5(PNPLA6):c.3610G>A (p.Ala1204Thr)SNV Uncertain significance 240700 rs755872517 19:7625558-7625558 19:7560672-7560672
44 PNPLA6 NM_006702.5(PNPLA6):c.3654G>T (p.Met1218Ile)SNV Uncertain significance 240701 rs878854905 19:7625602-7625602 19:7560716-7560716
45 PNPLA6 NM_006702.5(PNPLA6):c.2T>C (p.Met1Thr)SNV Uncertain significance 240695 rs765249233 19:7600438-7600438 19:7535552-7535552
46 PNPLA6 NM_006702.5(PNPLA6):c.2981G>C (p.Ser994Thr)SNV Uncertain significance 240694 rs377449787 19:7621340-7621340 19:7556454-7556454
47 PNPLA6 NM_006702.5(PNPLA6):c.3889C>T (p.Pro1297Ser)SNV Uncertain significance 409994 rs151264767 19:7626183-7626183 19:7561297-7561297
48 PNPLA6 NM_006702.5(PNPLA6):c.1453G>A (p.Ala485Thr)SNV Uncertain significance 423302 rs763642095 19:7607932-7607932 19:7543046-7543046
49 PNPLA6 NM_006702.5(PNPLA6):c.1405C>T (p.Arg469Trp)SNV Uncertain significance 409995 rs777484615 19:7607806-7607806 19:7542920-7542920
50 PNPLA6 NM_006702.5(PNPLA6):c.3230A>G (p.Asp1077Gly)SNV Uncertain significance 409992 rs762434726 19:7622117-7622117 19:7557231-7557231

Expression for Spastic Paraplegia 39

Search GEO for disease gene expression data for Spastic Paraplegia 39.

Pathways for Spastic Paraplegia 39

GO Terms for Spastic Paraplegia 39

Sources for Spastic Paraplegia 39

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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