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SPG39
MCID: SPS038
MIFTS: 19

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
Genes Variations Related diseases Publications
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Aliases & Classifications for Spastic Paraplegia 39

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MalaCards integrated aliases for Spastic Paraplegia 39:

Name: Spastic Paraplegia 39 53 29 6
Spastic Paraplegia 39, Autosomal Recessive 72
Nte Related Motor Neuron Disorder 53
Paraplegia, Spastic, Type 39 40
Ntemnd 53
Spg39 53

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Gastrointestinal diseases Skin diseases Respiratory diseases Bone diseases Nephrological diseases Ear diseases Mental diseases
See all MalaCards categories (disease lists)


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UMLS 72 C2677586
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Summaries for Spastic Paraplegia 39

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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).

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Related Diseases for Spastic Paraplegia 39

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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 1
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 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 47
Spastic Paraplegia 51 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

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Symptoms & Phenotypes for Spastic Paraplegia 39

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Drugs & Therapeutics for Spastic Paraplegia 39

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Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 39

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Genetic Tests for Spastic Paraplegia 39

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Genetic tests related to Spastic Paraplegia 39:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 39 29 PNPLA6
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Anatomical Context for Spastic Paraplegia 39

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Publications for Spastic Paraplegia 39

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Articles related to Spastic Paraplegia 39:

# Title Authors PMID Year
1
Primary progressive multiple sclerosis and neurofibromatosis type 1. 38
31048186 2019
2
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia. 38
26714052 2016
3
Delayed Induction of Human NTE (PNPLA6) Rescues Neurodegeneration and Mobility Defects of Drosophila swiss cheese (sws) Mutants. 38
26671664 2015
4
PNPLA6-Related Disorders 38
25299038 2014
5
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. 38
23733235 2013
6
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 38
23897027 2013
7
Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish. 38
22996643 2013
8
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 38
22554690 2012
9
Constructs of human neuropathy target esterase catalytic domain containing mutations related to motor neuron disease have altered enzymatic properties. 38
20382209 2010
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Variations for Spastic Paraplegia 39

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ClinVar genetic disease variations for Spastic Paraplegia 39:

6 (show top 50) (show all 78)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PNPLA6 NM_006702.5(PNPLA6): c.3811del (p.Asp1271fs) deletion Pathogenic rs1060502664 19:7626105-7626105 19:7561219-7561219
2 PNPLA6 NM_006702.5(PNPLA6): c.2291dup (p.Thr765fs) duplication Pathogenic rs1555749683 19:7619098-7619098 19:7554212-7554212
3 PNPLA6 NM_006702.5(PNPLA6): c.3034A> G (p.Met1012Val) single nucleotide variant Pathogenic rs121434415 19:7621393-7621393 19:7556507-7556507
4 PNPLA6 NM_006702.5(PNPLA6): c.2669G> A (p.Arg890His) single nucleotide variant Pathogenic rs121434416 19:7619927-7619927 19:7555041-7555041
5 PNPLA6 NM_006702.5(PNPLA6): c.2944_2947dup (p.Arg983fs) duplication Pathogenic rs606231167 19:7620614-7620617 19:7555728-7555731
6 PNPLA6 NM_006702.5(PNPLA6): c.643G> A (p.Val215Ile) single nucleotide variant Pathogenic rs587777184 19:7605561-7605561 19:7540675-7540675
7 PNPLA6 NM_006702.5(PNPLA6): c.2375G> A (p.Gly792Glu) single nucleotide variant Pathogenic rs587777185 19:7619464-7619464 19:7554578-7554578
8 PNPLA6 NM_006702.5(PNPLA6): c.3389G> A (p.Trp1130Ter) single nucleotide variant Pathogenic rs1555751597 19:7623841-7623841 19:7558955-7558955
9 PNPLA6 NM_006702.5(PNPLA6): c.2369del (p.Leu790fs) deletion Pathogenic 19:7619458-7619458 19:7554572-7554572
10 PNPLA6 NM_006702.5(PNPLA6): c.3186del (p.Arg1063fs) deletion Pathogenic 19:7622073-7622073 19:7557187-7557187
11 PNPLA6 NM_006702.5(PNPLA6): c.3241G> A (p.Gly1081Arg) single nucleotide variant Likely pathogenic rs773955314 19:7622128-7622128 19:7557242-7557242
12 PNPLA6 NM_006702.5(PNPLA6): c.3702+1G> A single nucleotide variant Likely pathogenic rs1490826010 19:7625651-7625651 19:7560765-7560765
13 PNPLA6 NM_006702.5(PNPLA6): c.1563C> T (p.Asp521=) single nucleotide variant Conflicting interpretations of pathogenicity rs761103593 19:7614864-7614864 19:7549978-7549978
14 PNPLA6 NM_006702.5(PNPLA6): c.3435T> C (p.Val1145=) single nucleotide variant Conflicting interpretations of pathogenicity rs35770729 19:7623887-7623887 19:7559001-7559001
15 PNPLA6 NM_006702.5(PNPLA6): c.3404G> A (p.Arg1135Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs1057517802 19:7623856-7623856 19:7558970-7558970
16 PNPLA6 NM_006702.5(PNPLA6): c.3964G> A (p.Gly1322Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145178162 19:7626428-7626428 19:7561542-7561542
17 PNPLA6 NM_006702.5(PNPLA6): c.54A> C (p.Gly18=) single nucleotide variant Conflicting interpretations of pathogenicity rs140825810 19:7600845-7600845 19:7535959-7535959
18 PNPLA6 NM_006702.5(PNPLA6): c.2245G> A (p.Val749Met) single nucleotide variant Conflicting interpretations of pathogenicity rs145988230 19:7618859-7618859 19:7553973-7553973
19 PNPLA6 NM_006702.5(PNPLA6): c.3381C> T (p.Ser1127=) single nucleotide variant Conflicting interpretations of pathogenicity rs138837774 19:7623833-7623833 19:7558947-7558947
20 PNPLA6 NM_006702.5(PNPLA6): c.3489G> A (p.Gln1163=) single nucleotide variant Conflicting interpretations of pathogenicity rs112133109 19:7623941-7623941 19:7559055-7559055
21 PNPLA6 NM_006702.5(PNPLA6): c.3610G> A (p.Ala1204Thr) single nucleotide variant Uncertain significance rs755872517 19:7625558-7625558 19:7560672-7560672
22 PNPLA6 NM_006702.5(PNPLA6): c.3754C> T (p.Arg1252Trp) single nucleotide variant Uncertain significance rs369159451 19:7625951-7625951 19:7561065-7561065
23 PNPLA6 NM_006702.5(PNPLA6): c.3865G> T (p.Gly1289Trp) single nucleotide variant Uncertain significance rs1555752329 19:7626159-7626159 19:7561273-7561273
24 PNPLA6 NM_006702.5(PNPLA6): c.2374G> C (p.Gly792Arg) single nucleotide variant Uncertain significance rs1244234383 19:7619463-7619463 19:7554577-7554577
25 PNPLA6 NM_006702.5(PNPLA6): c.3770C> T (p.Thr1257Met) single nucleotide variant Uncertain significance rs758549829 19:7625967-7625967 19:7561081-7561081
26 PNPLA6 NM_006702.5(PNPLA6): c.1375G> A (p.Ala459Thr) single nucleotide variant Uncertain significance rs375397452 19:7607776-7607776 19:7542890-7542890
27 PNPLA6 NM_006702.5(PNPLA6): c.3200C> T (p.Thr1067Met) single nucleotide variant Uncertain significance 19:7622087-7622087 19:7557201-7557201
28 PNPLA6 NM_006702.5(PNPLA6): c.1106G> T (p.Arg369Leu) single nucleotide variant Uncertain significance 19:7606924-7606924 19:7542038-7542038
29 PNPLA6 NM_006702.5(PNPLA6): c.2690del (p.Ser897fs) deletion Uncertain significance 19:7619947-7619948 19:7555062-7555062
30 PNPLA6 NM_006702.5(PNPLA6): c.3598C> G (p.Gln1200Glu) single nucleotide variant Uncertain significance 19:7625546-7625546 19:7560660-7560660
31 PNPLA6 NM_006702.5(PNPLA6): c.905G> T (p.Arg302Leu) single nucleotide variant Uncertain significance 19:7606424-7606424 19:7541538-7541538
32 PNPLA6 NM_006702.5(PNPLA6): c.1214C> A (p.Ala405Asp) single nucleotide variant Uncertain significance 19:7607525-7607525 19:7542639-7542639
33 PNPLA6 NM_006702.5(PNPLA6): c.2031G> T (p.Glu677Asp) single nucleotide variant Uncertain significance 19:7615957-7615957 19:7551071-7551071
34 PNPLA6 NM_006702.5(PNPLA6): c.2810G> A (p.Gly937Glu) single nucleotide variant Uncertain significance 19:7620241-7620241 19:7555355-7555355
35 PNPLA6 NM_006702.5(PNPLA6): c.3325A> G (p.Ile1109Val) single nucleotide variant Uncertain significance 19:7623777-7623777 19:7558891-7558891
36 PNPLA6 NM_006702.5(PNPLA6): c.3403C> T (p.Arg1135Trp) single nucleotide variant Uncertain significance 19:7623855-7623855 19:7558969-7558969
37 PNPLA6 NM_006702.5(PNPLA6): c.678+3G> A single nucleotide variant Uncertain significance 19:7605599-7605599 19:7540713-7540713
38 PNPLA6 NM_006702.5(PNPLA6): c.1869T> A (p.Asn623Lys) single nucleotide variant Uncertain significance 19:7615442-7615442 19:7550556-7550556
39 PNPLA6 NM_006702.5(PNPLA6): c.3096+3A> G single nucleotide variant Uncertain significance 19:7621458-7621458 19:7556572-7556572
40 PNPLA6 NM_006702.5(PNPLA6): c.2825G> C (p.Gly942Ala) single nucleotide variant Uncertain significance 19:7620495-7620495 19:7555609-7555609
41 PNPLA6 NM_006702.4(PNPLA6): c.297-4_297-2delCCA deletion Uncertain significance 19:7604800-7604802 19:7539914-7539916
42 PNPLA6 NM_006702.5(PNPLA6): c.1246-7C> G single nucleotide variant Uncertain significance 19:7607640-7607640 19:7542754-7542754
43 PNPLA6 NM_006702.5(PNPLA6): c.1313C> T (p.Ser438Leu) single nucleotide variant Uncertain significance 19:7607714-7607714 19:7542828-7542828
44 PNPLA6 NM_006702.5(PNPLA6): c.1561G> A (p.Asp521Asn) single nucleotide variant Uncertain significance 19:7614862-7614862 19:7549976-7549976
45 PNPLA6 NM_006702.5(PNPLA6): c.1372G> C (p.Glu458Gln) single nucleotide variant Uncertain significance rs372128647 19:7607773-7607773 19:7542887-7542887
46 PNPLA6 NM_006702.5(PNPLA6): c.1153C> T (p.Arg385Cys) single nucleotide variant Uncertain significance rs763561590 19:7607464-7607464 19:7542578-7542578
47 PNPLA6 NM_006702.5(PNPLA6): c.3654G> T (p.Met1218Ile) single nucleotide variant Uncertain significance rs878854905 19:7625602-7625602 19:7560716-7560716
48 PNPLA6 NM_006702.5(PNPLA6): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs765249233 19:7600438-7600438 19:7535552-7535552
49 PNPLA6 NM_006702.5(PNPLA6): c.1405C> T (p.Arg469Trp) single nucleotide variant Uncertain significance rs777484615 19:7607806-7607806 19:7542920-7542920
50 PNPLA6 NM_006702.5(PNPLA6): c.3230A> G (p.Asp1077Gly) single nucleotide variant Uncertain significance rs762434726 19:7622117-7622117 19:7557231-7557231
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Expression for Spastic Paraplegia 39

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

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GO Terms for Spastic Paraplegia 39

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Sources for Spastic Paraplegia 39

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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