SPG39
MCID: SPS129
MIFTS: 41

Spastic Paraplegia 39, Autosomal Recessive (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, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 39, Autosomal Recessive:

Name: Spastic Paraplegia 39, Autosomal Recessive 56 73 13 71
Spg39 56 12 58 73
Nte-Related Motor Neuron Disorder 56 12 73
Ntemnd 56 12 73
Spastic Paraplegia Due to Neuropathy Target Esterase Mutation 12 58
Autosomal Recessive Spastic Paraplegia Type 39 12 58
Spastic Paraplegia Due to Nte Mutation 12 58
Hereditary Spastic Paraplegia 39 12 15
Nte-Related Motor Neuron Disorder; Ntemnd 56
Autosomal Recessive Spastic Paraplegia 39 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 39
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
later onset has been reported
onset usually in the first decade


HPO:

31
spastic paraplegia 39, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0110790
OMIM 56 612020
OMIM Phenotypic Series 56 PS303350
MeSH 43 D015419
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C2677586
Orphanet 58 ORPHA139480
MedGen 41 C2677586
UMLS 71 C2677586

Summaries for Spastic Paraplegia 39, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 Spastic paraplegia 39, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG39 is associated with a motor axonopathy affecting upper and lower limbs and resulting in progressive wasting of distal upper and lower extremity muscles.

MalaCards based summary : Spastic Paraplegia 39, Autosomal Recessive, also known as spg39, is related to spastic paraplegia 39 and boucher-neuhauser syndrome. An important gene associated with Spastic Paraplegia 39, Autosomal Recessive is PNPLA6 (Patatin Like Phospholipase Domain Containing 6), and among its related pathways/superpathways is Endocytosis. Affiliated tissues include spinal cord, brain and eye, and related phenotypes are hyperreflexia and motor axonal neuropathy

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the PNPLA6 gene on chromosome 19p13.

OMIM : 56 The form of motor neuron disease designated spastic paraplegia-39 (SPG39) by Rainier et al. (2008) is an autosomal recessive progressive spastic paraplegia associated with distal upper and lower extremity wasting. For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800. (612020)

Related Diseases for Spastic Paraplegia 39, Autosomal Recessive

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, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 39 11.6
2 boucher-neuhauser syndrome 11.3
3 autosomal dominant non-syndromic intellectual disability 9 10.3 ZFYVE26 AP5Z1
4 spastic paraplegia 5a 10.2 GBA2 CYP7B1
5 spinocerebellar ataxia, autosomal recessive 20 10.2 ZFYVE26 SPG11
6 complex hereditary spastic paraplegia 10.2 SPG11 CYP7B1
7 charcot-marie-tooth disease, axonal, type 2r 10.1 ZFYVE26 SPG21
8 spastic paraplegia 73, autosomal dominant 10.1 SPG21 GBA2
9 spastic paraplegia 64, autosomal recessive 10.1 SPG21 SPG11
10 hereditary spastic paraplegia 51 10.1 ZFYVE26 SPG11 AP5Z1
11 spastic paraplegia 63, autosomal recessive 10.0 SPG21 SPG11
12 spastic paraplegia 11, autosomal recessive 10.0 ZFYVE26 SPG21 SPG11
13 neuropathy, hereditary sensory, type iic 10.0 SPG21 SPG11 FA2H
14 spastic paraplegia 27, autosomal recessive 10.0 SPG21 SLC33A1
15 spastic paraplegia 53, autosomal recessive 10.0 SLC33A1 AP5Z1
16 mast syndrome 10.0 SPG21 SPG11 SPART
17 spastic paraplegia 41, autosomal dominant 9.9 SPG21 SPAST
18 spastic paraplegia 57, autosomal recessive 9.9 SPG11 ERLIN2
19 spastic paraplegia 61, autosomal recessive 9.9 SPG21 SPAST
20 pure hereditary spastic paraplegia 9.9 SPAST ERLIN2
21 spastic paraplegia 24, autosomal recessive 9.8 SPG21 CYP7B1
22 charcot-marie-tooth disease, axonal, type 2t 9.8 ZFYVE26 SPG21 GBA2 FA2H
23 parkinson disease 15, autosomal recessive early-onset 9.8 SPG11 FA2H
24 neurodegeneration with brain iron accumulation 4 9.8 FA2H ERLIN2
25 spastic paraplegia 76, autosomal recessive 9.8 PNPLA6 GBA2 FA2H CYP7B1
26 spastic paraplegia 52, autosomal recessive 9.8 ZFYVE26 SPG21 SPG11 AP5Z1
27 sjogren-larsson syndrome 9.7 PNPLA6 FA2H DDHD1
28 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 9.7 PNPLA6 DDHD1
29 spastic paraplegia 34, x-linked 9.7 ZFYVE26 WASHC5 SPG21 SLC33A1
30 spastic paraplegia 29, autosomal dominant 9.7 ZFYVE26 WASHC5 SPG21 SLC33A1
31 spastic paraplegia 37, autosomal dominant 9.7 ZFYVE26 WASHC5 SPG21 SLC33A1
32 spastic paraplegia 25, autosomal recessive 9.7 ZFYVE26 WASHC5 SPG21 SLC33A1
33 spastic paraplegia 19, autosomal dominant 9.7 ZFYVE26 WASHC5 SPG21 SLC33A1
34 spastic paraplegia 32, autosomal recessive 9.7 ZFYVE26 SPG21 SPG11 SLC33A1
35 spastic paraplegia 3, autosomal dominant 9.6 ZFYVE26 WASHC5 SPG11 SPAST
36 neurodegeneration with brain iron accumulation 9.6 SPG11 FA2H DDHD1
37 aceruloplasminemia 9.6 SPG11 SLC33A1 GBA2 FA2H
38 amyotrophic lateral sclerosis type 5 9.6 ZFYVE26 SPG11 SPAST AP5Z1
39 spastic paraplegia 77, autosomal recessive 9.6 ZFYVE26 SPG11 GBA2 FA2H CYP7B1
40 spastic paraplegia 50, autosomal recessive 9.5 ZFYVE26 WASHC5 SPG11 ERLIN2 AP5Z1
41 spastic paraplegia 49, autosomal recessive 9.4 ZFYVE26 SPG21 SPG11 DDHD1
42 spasticity 9.4 WASHC5 SPAST DDHD1
43 spastic paraplegia 55, autosomal recessive 9.4 ZFYVE26 SPG21 SPG11 DDHD1
44 spastic paraplegia 28, autosomal recessive 9.4 SPG11 FA2H DDHD1 CYP7B1
45 spastic paraplegia 35, autosomal recessive 9.4 ZFYVE26 WASHC5 SPG21 SPG11 FA2H AP5Z1
46 hereditary spastic paraplegia 72 9.3 ZFYVE26 SPG21 SPG11 SPAST AP5Z1
47 spastic paraparesis 9.2 SPG11 SPAST FA2H DDHD1
48 spastic paraplegia 20, autosomal recessive 9.2 ZFYVE26 SPG21 SPG11 SPAST SPART PNPLA6
49 spastic paraplegia 33, autosomal dominant 9.2 WASHC5 SPG21 SPAST SPART SLC33A1
50 spastic paraplegia 5a, autosomal recessive 9.2 ZFYVE26 SPG11 SPAST PNPLA6 FA2H CYP7B1

Graphical network of the top 20 diseases related to Spastic Paraplegia 39, Autosomal Recessive:



Diseases related to Spastic Paraplegia 39, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 39, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 39, Autosomal Recessive:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
2 motor axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007002
3 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
4 spastic paraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0001258
5 generalized limb muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009055
6 atrophy of the spinal cord 58 31 frequent (33%) Frequent (79-30%) HP:0006827
7 gait ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002066
8 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
9 ataxia 31 occasional (7.5%) HP:0001251
10 gait disturbance 31 HP:0001288
11 distal amyotrophy 31 HP:0003693
12 lower limb spasticity 58 Frequent (79-30%)
13 progressive spastic paraplegia 31 HP:0007020
14 distal lower limb muscle weakness 31 HP:0009053

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
spastic paraplegia
extensor plantar responses
abnormal gait
cerebellar atrophy (in some patients)
more
Muscle Soft Tissue:
distal muscle atrophy

Neurologic Peripheral Nervous System:
axonal motor neuropathy

Clinical features from OMIM:

612020

Drugs & Therapeutics for Spastic Paraplegia 39, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 39, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 39, Autosomal Recessive

Anatomical Context for Spastic Paraplegia 39, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 39, Autosomal Recessive:

40
Spinal Cord, Brain, Eye, Bone, Skin

Publications for Spastic Paraplegia 39, Autosomal Recessive

Articles related to Spastic Paraplegia 39, Autosomal Recessive:

(show all 12)
# Title Authors PMID Year
1
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. 56 6
24355708 2014
2
Neuropathy target esterase gene mutations cause motor neuron disease. 56 6
18313024 2008
3
PNPLA6-Related Disorders 61 6
25299038 2014
4
Hereditary Spastic Paraplegia Overview 6
20301682 2000
5
Primary progressive multiple sclerosis and neurofibromatosis type 1. 61
31048186 2019
6
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia. 61
26714052 2016
7
Delayed Induction of Human NTE (PNPLA6) Rescues Neurodegeneration and Mobility Defects of Drosophila swiss cheese (sws) Mutants. 61
26671664 2015
8
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. 61
23733235 2013
9
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
10
Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish. 61
22996643 2013
11
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
12
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, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 39, Autosomal Recessive:

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>ASNV 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>ASNV 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>GSNV Uncertain significance 570132 rs1167974266 19:7621458-7621458 19:7556572-7556572
35 PNPLA6 NM_006702.5(PNPLA6):c.297-4_297-2delshort repeat Uncertain significance 578289 rs771196056 19:7604797-7604799 19:7539911-7539913
36 PNPLA6 NM_006702.5(PNPLA6):c.1246-7C>GSNV 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

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 39, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 PNPLA6 p.Arg938His VAR_044409 rs121434416
2 PNPLA6 p.Met1060Val VAR_044410 rs121434415
3 PNPLA6 p.Val263Ile VAR_071091 rs587777184
4 PNPLA6 p.Gly840Glu VAR_071093 rs587777185

Expression for Spastic Paraplegia 39, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 39, Autosomal Recessive.

Pathways for Spastic Paraplegia 39, Autosomal Recessive

Pathways related to Spastic Paraplegia 39, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.2 WASHC5 SPG21 SPART

GO Terms for Spastic Paraplegia 39, Autosomal Recessive

Cellular components related to Spastic Paraplegia 39, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.5 SPAST SLC33A1 PNPLA6 GBA2 FA2H ERLIN2
2 midbody GO:0030496 9.33 ZFYVE26 SPAST SPART
3 endoplasmic reticulum GO:0005783 9.23 WASHC5 SPAST SLC33A1 PNPLA6 GBA2 FA2H

Biological processes related to Spastic Paraplegia 39, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.33 GBA2 ERLIN2 CYP7B1
2 cholesterol metabolic process GO:0008203 9.13 GBA2 ERLIN2 CYP7B1
3 lipid metabolic process GO:0006629 9.1 PNPLA6 GBA2 FA2H ERLIN2 DDHD1 CYP7B1

Sources for Spastic Paraplegia 39, Autosomal Recessive

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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