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MCID: SPS038
MIFTS: 19

Spastic Paraplegia 39

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
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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 54 30 6
Spastic Paraplegia 39, Autosomal Recessive 74
Nte Related Motor Neuron Disorder 54
Paraplegia, Spastic, Type 39 41
Ntemnd 54
Spg39 54

Classifications:

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


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UMLS 74 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). Affiliated tissues include skin, bone and eye.

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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 Hereditary Spastic Paraplegia 23
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
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 12.7
2 boucher-neuhauser syndrome 11.1

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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 30 PNPLA6
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Anatomical Context for Spastic Paraplegia 39

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MalaCards organs/tissues related to Spastic Paraplegia 39:

42
Skin, Bone, Eye
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Publications for Spastic Paraplegia 39

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Articles related to Spastic Paraplegia 39:

# Title Authors Year
1
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. ( 24355708 )
2014
2
Neuropathy target esterase gene mutations cause motor neuron disease. ( 18313024 )
2008
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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 138)
# Gene Variation Type Significance SNP ID Assembly Location
1 PNPLA6 NM_006702.4(PNPLA6): c.3034A> G (p.Met1012Val) single nucleotide variant Pathogenic rs121434415 GRCh37 Chromosome 19, 7621393: 7621393
2 PNPLA6 NM_006702.4(PNPLA6): c.3034A> G (p.Met1012Val) single nucleotide variant Pathogenic rs121434415 GRCh38 Chromosome 19, 7556507: 7556507
3 PNPLA6 NM_006702.4(PNPLA6): c.2669G> A (p.Arg890His) single nucleotide variant Pathogenic rs121434416 GRCh37 Chromosome 19, 7619927: 7619927
4 PNPLA6 NM_006702.4(PNPLA6): c.2669G> A (p.Arg890His) single nucleotide variant Pathogenic rs121434416 GRCh38 Chromosome 19, 7555041: 7555041
5 PNPLA6 NM_006702.4(PNPLA6): c.2944_2947dupAGCC (p.Arg983Glnfs) duplication Pathogenic rs606231167 GRCh38 Chromosome 19, 7555728: 7555731
6 PNPLA6 NM_006702.4(PNPLA6): c.2944_2947dupAGCC (p.Arg983Glnfs) duplication Pathogenic rs606231167 GRCh37 Chromosome 19, 7620614: 7620617
7 PNPLA6 NM_001166111.1(PNPLA6): c.787G> A (p.Val263Ile) single nucleotide variant Pathogenic rs587777184 GRCh38 Chromosome 19, 7540675: 7540675
8 PNPLA6 NM_001166111.1(PNPLA6): c.787G> A (p.Val263Ile) single nucleotide variant Pathogenic rs587777184 GRCh37 Chromosome 19, 7605561: 7605561
9 PNPLA6 NM_006702.4(PNPLA6): c.2375G> A (p.Gly792Glu) single nucleotide variant Pathogenic rs587777185 GRCh38 Chromosome 19, 7554578: 7554578
10 PNPLA6 NM_006702.4(PNPLA6): c.2375G> A (p.Gly792Glu) single nucleotide variant Pathogenic rs587777185 GRCh37 Chromosome 19, 7619464: 7619464
11 PNPLA6 NM_006702.4(PNPLA6): c.3964G> A (p.Gly1322Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145178162 GRCh37 Chromosome 19, 7626428: 7626428
12 PNPLA6 NM_006702.4(PNPLA6): c.3964G> A (p.Gly1322Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145178162 GRCh38 Chromosome 19, 7561542: 7561542
13 PNPLA6 NM_006702.4(PNPLA6): c.45C> T (p.Ile15=) single nucleotide variant Benign rs200310048 GRCh38 Chromosome 19, 7535950: 7535950
14 PNPLA6 NM_006702.4(PNPLA6): c.45C> T (p.Ile15=) single nucleotide variant Benign rs200310048 GRCh37 Chromosome 19, 7600836: 7600836
15 PNPLA6 NM_006702.4(PNPLA6): c.3336G> A (p.Gly1112=) single nucleotide variant Likely benign rs367675784 GRCh38 Chromosome 19, 7558902: 7558902
16 PNPLA6 NM_006702.4(PNPLA6): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs765249233 GRCh37 Chromosome 19, 7600438: 7600438
17 PNPLA6 NM_006702.4(PNPLA6): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs765249233 GRCh38 Chromosome 19, 7535552: 7535552
18 MCOLN1; PNPLA6 NM_006702.4(PNPLA6): c.64G> C (p.Val22Leu) single nucleotide variant Benign/Likely benign rs112732576 GRCh37 Chromosome 19, 7600855: 7600855
19 MCOLN1; PNPLA6 NM_006702.4(PNPLA6): c.64G> C (p.Val22Leu) single nucleotide variant Benign/Likely benign rs112732576 GRCh38 Chromosome 19, 7535969: 7535969
20 PNPLA6 NM_006702.4(PNPLA6): c.116-8A> G single nucleotide variant Likely benign rs369490744 GRCh37 Chromosome 19, 7601069: 7601069
21 PNPLA6 NM_006702.4(PNPLA6): c.116-8A> G single nucleotide variant Likely benign rs369490744 GRCh38 Chromosome 19, 7536183: 7536183
22 PNPLA6 NM_006702.4(PNPLA6): c.1340C> T (p.Pro447Leu) single nucleotide variant Benign/Likely benign rs145191932 GRCh37 Chromosome 19, 7607741: 7607741
23 PNPLA6 NM_006702.4(PNPLA6): c.1340C> T (p.Pro447Leu) single nucleotide variant Benign/Likely benign rs145191932 GRCh38 Chromosome 19, 7542855: 7542855
24 PNPLA6 NM_006702.4(PNPLA6): c.1587C> G (p.Pro529=) single nucleotide variant Benign rs62111288 GRCh37 Chromosome 19, 7614888: 7614888
25 PNPLA6 NM_006702.4(PNPLA6): c.1587C> G (p.Pro529=) single nucleotide variant Benign rs62111288 GRCh38 Chromosome 19, 7550002: 7550002
26 PNPLA6 NM_006702.4(PNPLA6): c.2980-5C> T single nucleotide variant Benign rs116788699 GRCh37 Chromosome 19, 7621334: 7621334
27 PNPLA6 NM_006702.4(PNPLA6): c.2980-5C> T single nucleotide variant Benign rs116788699 GRCh38 Chromosome 19, 7556448: 7556448
28 PNPLA6 NM_006702.4(PNPLA6): c.2981G> C (p.Ser994Thr) single nucleotide variant Uncertain significance rs377449787 GRCh37 Chromosome 19, 7621340: 7621340
29 PNPLA6 NM_006702.4(PNPLA6): c.2981G> C (p.Ser994Thr) single nucleotide variant Uncertain significance rs377449787 GRCh38 Chromosome 19, 7556454: 7556454
30 PNPLA6 NM_006702.4(PNPLA6): c.3261C> T (p.Gly1087=) single nucleotide variant Likely benign rs375987938 GRCh38 Chromosome 19, 7557262: 7557262
31 PNPLA6 NM_006702.4(PNPLA6): c.3261C> T (p.Gly1087=) single nucleotide variant Likely benign rs375987938 GRCh37 Chromosome 19, 7622148: 7622148
32 PNPLA6 NM_006702.4(PNPLA6): c.3336G> A (p.Gly1112=) single nucleotide variant Likely benign rs367675784 GRCh37 Chromosome 19, 7623788: 7623788
33 PNPLA6 NM_006702.4(PNPLA6): c.3381C> T (p.Ser1127=) single nucleotide variant Conflicting interpretations of pathogenicity rs138837774 GRCh38 Chromosome 19, 7558947: 7558947
34 PNPLA6 NM_006702.4(PNPLA6): c.3381C> T (p.Ser1127=) single nucleotide variant Conflicting interpretations of pathogenicity rs138837774 GRCh37 Chromosome 19, 7623833: 7623833
35 PNPLA6 NM_006702.4(PNPLA6): c.3489G> A (p.Gln1163=) single nucleotide variant Conflicting interpretations of pathogenicity rs112133109 GRCh37 Chromosome 19, 7623941: 7623941
36 PNPLA6 NM_006702.4(PNPLA6): c.3489G> A (p.Gln1163=) single nucleotide variant Conflicting interpretations of pathogenicity rs112133109 GRCh38 Chromosome 19, 7559055: 7559055
37 PNPLA6 NM_006702.4(PNPLA6): c.3610G> A (p.Ala1204Thr) single nucleotide variant Uncertain significance rs755872517 GRCh37 Chromosome 19, 7625558: 7625558
38 PNPLA6 NM_006702.4(PNPLA6): c.3610G> A (p.Ala1204Thr) single nucleotide variant Uncertain significance rs755872517 GRCh38 Chromosome 19, 7560672: 7560672
39 PNPLA6 NM_006702.4(PNPLA6): c.3654G> T (p.Met1218Ile) single nucleotide variant Uncertain significance rs878854905 GRCh37 Chromosome 19, 7625602: 7625602
40 PNPLA6 NM_006702.4(PNPLA6): c.3654G> T (p.Met1218Ile) single nucleotide variant Uncertain significance rs878854905 GRCh38 Chromosome 19, 7560716: 7560716
41 MCOLN1; PNPLA6 NM_006702.4(PNPLA6): c.56T> C (p.Val19Ala) single nucleotide variant Benign/Likely benign rs188353745 GRCh37 Chromosome 19, 7600847: 7600847
42 MCOLN1; PNPLA6 NM_006702.4(PNPLA6): c.56T> C (p.Val19Ala) single nucleotide variant Benign/Likely benign rs188353745 GRCh38 Chromosome 19, 7535961: 7535961
43 PNPLA6 NM_001166111.1(PNPLA6): c.2160G> A (p.Leu720=) single nucleotide variant Benign rs113335442 GRCh37 Chromosome 19, 7615942: 7615942
44 PNPLA6 NM_001166111.1(PNPLA6): c.2160G> A (p.Leu720=) single nucleotide variant Benign rs113335442 GRCh38 Chromosome 19, 7551056: 7551056
45 PNPLA6 NM_001166111.1(PNPLA6): c.2736C> T (p.Gly912=) single nucleotide variant Benign rs113264142 GRCh37 Chromosome 19, 7619850: 7619850
46 PNPLA6 NM_001166111.1(PNPLA6): c.2736C> T (p.Gly912=) single nucleotide variant Benign rs113264142 GRCh38 Chromosome 19, 7554964: 7554964
47 PNPLA6 NM_006702.4(PNPLA6): c.1563C> T (p.Asp521=) single nucleotide variant Conflicting interpretations of pathogenicity rs761103593 GRCh38 Chromosome 19, 7549978: 7549978
48 PNPLA6 NM_006702.4(PNPLA6): c.1563C> T (p.Asp521=) single nucleotide variant Conflicting interpretations of pathogenicity rs761103593 GRCh37 Chromosome 19, 7614864: 7614864
49 PNPLA6 NM_006702.4(PNPLA6): c.3435T> C (p.Val1145=) single nucleotide variant Conflicting interpretations of pathogenicity rs35770729 GRCh38 Chromosome 19, 7559001: 7559001
50 PNPLA6 NM_006702.4(PNPLA6): c.3435T> C (p.Val1145=) single nucleotide variant Conflicting interpretations of pathogenicity rs35770729 GRCh37 Chromosome 19, 7623887: 7623887
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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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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