SPG39
MCID: SPS129
MIFTS: 44

Spastic Paraplegia 39, Autosomal Recessive (SPG39)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle 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 57 72 13 70
Hereditary Spastic Paraplegia 39 12 29 6 15
Spg39 57 12 58 72
Nte-Related Motor Neuron Disorder 57 12 72
Ntemnd 57 12 72
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
Nte-Related Motor Neuron Disorder; Ntemnd 57
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®:

57 (Updated 05-Apr-2021)
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® 57 612020
OMIM Phenotypic Series 57 PS303350
MeSH 44 D015419
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 71 C2677586
Orphanet 58 ORPHA139480
MedGen 41 C2677586
UMLS 70 C2677586

Summaries for Spastic Paraplegia 39, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 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 hereditary spastic paraplegia 39, 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). Affiliated tissues include spinal cord, and related phenotypes are hyperreflexia and spastic paraplegia

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

OMIM® : 57 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) (Updated 05-Apr-2021)

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 Dominant
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
Spastic Paraplegia 81, Autosomal Recessive Spastic Paraplegia 82, Autosomal Recessive
Spastic Paraplegia 83, Autosomal Recessive Hereditary Spastic Paraplegia 23
Hereditary Spastic Paraplegia 30 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 84)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 39 11.4
2 boucher-neuhauser syndrome 10.9
3 spastic paraplegia 5a 10.2 GBA2 CYP7B1
4 nescav syndrome 10.2 ZFYVE26 AP5Z1
5 amyotrophic lateral sclerosis type 5 10.1 ZFYVE26 SPG11 AP5Z1
6 spastic paraplegia 76, autosomal recessive 10.1 SPG11 GBA2
7 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 10.1 PNPLA6 DDHD2 DDHD1
8 spinocerebellar ataxia, autosomal recessive 20 10.0 ZFYVE26 SPG11 DDHD2
9 neurodegeneration with brain iron accumulation 10.0 SPG11 FA2H DDHD1
10 charcot-marie-tooth disease, axonal, type 2r 10.0 ZFYVE26 SPG21
11 spastic paraplegia 64, autosomal recessive 10.0 ZFYVE26 SPG21 SPG11
12 spastic paraplegia 7, autosomal recessive 10.0 SPG7 SPG11 PNPLA6
13 spastic paraplegia 27, autosomal recessive 10.0 SPG21 SLC33A1
14 lenz-majewski hyperostotic dwarfism 10.0 DDHD2 DDHD1
15 neuropathy, hereditary sensory, type iic 10.0 SPG21 SPG11 FA2H
16 mast syndrome 10.0 SPG21 SPG11 SPART
17 motor peripheral neuropathy 10.0 ZFYVE26 SPG7 SPG11
18 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 9.9 DDHD2 DDHD1
19 aceruloplasminemia 9.9 SPART SLC33A1 PNPLA6 FA2H
20 parkinson disease 15, autosomal recessive early-onset 9.9 SPG11 FA2H
21 charcot-marie-tooth disease, axonal, type 2t 9.9 ZFYVE26 SPG21 GBA2
22 spastic paraplegia 52, autosomal recessive 9.9 ZFYVE26 SPG21 SPG11 AP5Z1
23 spastic paraplegia 37, autosomal dominant 9.8 ZFYVE26 SPG21 SPART SLC33A1
24 spastic paraplegia 29, autosomal dominant 9.8 ZFYVE26 WASHC5 SPG21 SLC33A1
25 spastic paraplegia 25, autosomal recessive 9.8 ZFYVE26 WASHC5 SPG21 SLC33A1
26 spastic paraplegia 19, autosomal dominant 9.8 ZFYVE26 WASHC5 SPG21 SLC33A1
27 spastic paraplegia 34, x-linked 9.8 ZFYVE26 WASHC5 SPG21 SLC33A1
28 spastic paraplegia, optic atrophy, and neuropathy 9.8 WASHC5 PNPLA6 ATL1 AP5Z1
29 spastic paraplegia 45, autosomal recessive 9.8 SPG21 SPG11 SPART DDHD2
30 spastic paraplegia 41, autosomal dominant 9.8 SPG21 SPAST
31 pure hereditary spastic paraplegia 9.7 SPAST ATL1
32 spastic paraplegia 53, autosomal recessive 9.7 WASHC5 SLC33A1 ATL1 AP5Z1
33 spastic paraplegia 63, autosomal recessive 9.7 SPG7 SPG21 SPG11 CYP7B1
34 complex hereditary spastic paraplegia 9.6 SPG7 SPG11 FA2H DDHD2 CYP7B1
35 spinocerebellar ataxia, autosomal recessive 24 9.6 SPG7 PNPLA6 GBA2 FA2H CYP7B1
36 neuropathy, hereditary sensory, type id 9.6 SPAST ATL1
37 hereditary spastic paraplegia 51 9.6 ZFYVE26 SPG7 SPG21 SPG11 AP5Z1
38 spastic paraplegia 50, autosomal recessive 9.6 ZFYVE26 SPG7 SPG21 SPG11 AP5Z1
39 spastic paraplegia 44, autosomal recessive 9.6 SPG21 SPG11 SLC33A1 CYP7B1 AP5Z1
40 spastic paraplegia 55, autosomal recessive 9.6 ZFYVE26 SPG7 SPG21 SPG11 DDHD1
41 motor neuron disease 9.6 SPAST SPART PNPLA6 DDHD2
42 spastic ataxia 9.6 SPG7 SPG11 PNPLA6 GBA2 DDHD2
43 neuropathy 9.5 ZFYVE26 SPG7 SPG11 PNPLA6 ATL1
44 spastic paraplegia 32, autosomal recessive 9.5 WASHC5 SPG7 SPG21 SPG11 SLC33A1
45 spasticity 9.5 WASHC5 SPG7 SPAST DDHD1
46 spastic paraplegia 5a, autosomal recessive 9.4 ZFYVE26 SPG7 SPG11 SPAST CYP7B1
47 spastic paraplegia 28, autosomal recessive 9.4 SPG7 SPG11 PNPLA6 FA2H DDHD2 DDHD1
48 hereditary spastic paraplegia 23 9.4 ZFYVE26 WASHC5 SPG21 SPG11 SPART SLC33A1
49 spastic paraplegia 49, autosomal recessive 9.4 ZFYVE26 SPG7 SPG21 SPG11 DDHD2 DDHD1
50 spastic paraplegia 3, autosomal dominant 9.2 WASHC5 SPG7 SPG11 SPAST ATL1

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 spastic paraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0001258
3 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
4 generalized limb muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009055
5 motor axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007002
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 lower limb muscle weakness 31 HP:0009053
12 lower limb spasticity 58 Frequent (79-30%)
13 distal amyotrophy 31 HP:0003693
14 progressive spastic paraplegia 31 HP:0007020

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
spastic paraplegia
abnormal gait
extensor plantar responses
cerebellar atrophy (in some patients)
more
Muscle Soft Tissue:
distal muscle atrophy

Neurologic Peripheral Nervous System:
axonal motor neuropathy

Clinical features from OMIM®:

612020 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Spastic Paraplegia 39, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 AP5Z1 ATL1 DDHD2 FA2H PNPLA6 SLC33A1
2 nervous system MP:0003631 9.36 AP5Z1 DDHD2 FA2H PNPLA6 SLC33A1 SPAST

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

Genetic tests related to Spastic Paraplegia 39, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Hereditary Spastic Paraplegia 39 29 PNPLA6

Anatomical Context for Spastic Paraplegia 39, Autosomal Recessive

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

40
Spinal Cord

Publications for Spastic Paraplegia 39, Autosomal Recessive

Articles related to Spastic Paraplegia 39, Autosomal Recessive:

(show all 15)
# Title Authors PMID Year
1
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. 6 57
24355708 2014
2
Neuropathy target esterase gene mutations cause motor neuron disease. 6 57
18313024 2008
3
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. 6
28559085 2017
4
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. 6
25480986 2015
5
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. 6
25574898 2015
6
Motor neuron disease due to neuropathy target esterase mutation: enzyme analysis of fibroblasts from human subjects yields insights into pathogenesis. 6
20603202 2010
7
Primary progressive multiple sclerosis and neurofibromatosis type 1. 61
31048186 2019
8
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia. 61
26714052 2016
9
Delayed Induction of Human NTE (PNPLA6) Rescues Neurodegeneration and Mobility Defects of Drosophila swiss cheese (sws) Mutants. 61
26671664 2015
10
PNPLA6-Related Disorders 61
25299038 2014
11
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. 61
23733235 2013
12
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
13
Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish. 61
22996643 2013
14
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
15
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 336)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PNPLA6 NM_001166114.2(PNPLA6):c.3148A>G (p.Met1050Val) SNV Pathogenic 6605 rs121434415 GRCh37: 19:7621393-7621393
GRCh38: 19:7556507-7556507
2 PNPLA6 NM_001166114.2(PNPLA6):c.2783G>A (p.Arg928His) SNV Pathogenic 6606 rs121434416 GRCh37: 19:7619927-7619927
GRCh38: 19:7555041-7555041
3 PNPLA6 NM_001166114.2(PNPLA6):c.2489G>A (p.Gly830Glu) SNV Pathogenic 101044 rs587777185 GRCh37: 19:7619464-7619464
GRCh38: 19:7554578-7554578
4 PNPLA6 NM_001166114.2(PNPLA6):c.3925del (p.Asp1309fs) Deletion Pathogenic 409950 rs1060502664 GRCh37: 19:7626105-7626105
GRCh38: 19:7561219-7561219
5 PNPLA6 NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser) SNV Pathogenic 409994 rs151264767 GRCh37: 19:7626183-7626183
GRCh38: 19:7561297-7561297
6 PNPLA6 NM_001166114.2(PNPLA6):c.2405dup (p.Thr803fs) Duplication Pathogenic 469616 rs1555749683 GRCh37: 19:7619096-7619097
GRCh38: 19:7554210-7554211
7 PNPLA6 NM_001166114.2(PNPLA6):c.3503G>A (p.Trp1168Ter) SNV Pathogenic 469619 rs1555751597 GRCh37: 19:7623841-7623841
GRCh38: 19:7558955-7558955
8 PNPLA6 NM_001166114.2(PNPLA6):c.2483del (p.Leu828fs) Deletion Pathogenic 569546 rs756542477 GRCh37: 19:7619458-7619458
GRCh38: 19:7554572-7554572
9 PNPLA6 NM_001166114.2(PNPLA6):c.3300del (p.Arg1101fs) Deletion Pathogenic 571226 rs756591718 GRCh37: 19:7622073-7622073
GRCh38: 19:7557187-7557187
10 PNPLA6 NM_001166114.2(PNPLA6):c.1211dup (p.Leu405fs) Duplication Pathogenic 939246 GRCh37: 19:7606908-7606909
GRCh38: 19:7542022-7542023
11 PNPLA6 NM_001166114.2(PNPLA6):c.266del (p.Phe89fs) Deletion Pathogenic 936817 GRCh37: 19:7601109-7601109
GRCh38: 19:7536223-7536223
12 PNPLA6 NM_001166114.2(PNPLA6):c.1321C>T (p.Gln441Ter) SNV Pathogenic 966263 GRCh37: 19:7607515-7607515
GRCh38: 19:7542629-7542629
13 PNPLA6 NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) Duplication Pathogenic 6607 rs606231167 GRCh37: 19:7620610-7620611
GRCh38: 19:7555724-7555725
14 PNPLA6 NM_001166114.2(PNPLA6):c.760G>A (p.Val254Ile) SNV Pathogenic 101043 rs587777184 GRCh37: 19:7605561-7605561
GRCh38: 19:7540675-7540675
15 PNPLA6 NM_001166114.2(PNPLA6):c.3355G>A (p.Gly1119Arg) SNV Likely pathogenic 409993 rs773955314 GRCh37: 19:7622128-7622128
GRCh38: 19:7557242-7557242
16 PNPLA6 NM_001166114.2(PNPLA6):c.1608+2T>C SNV Likely pathogenic 840021 GRCh37: 19:7607972-7607972
GRCh38: 19:7543086-7543086
17 PNPLA6 NM_001166114.2(PNPLA6):c.2934_2936+13del Deletion Likely pathogenic 864668 GRCh37: 19:7620242-7620257
GRCh38: 19:7555356-7555371
18 PNPLA6 NM_001166114.2(PNPLA6):c.3614T>C (p.Val1205Ala) SNV Likely pathogenic 846399 GRCh37: 19:7623952-7623952
GRCh38: 19:7559066-7559066
19 PNPLA6 NM_001166114.2(PNPLA6):c.3984dup (p.Ser1329fs) Duplication Likely pathogenic 850172 GRCh37: 19:7626158-7626159
GRCh38: 19:7561272-7561273
20 PNPLA6 NM_001166114.2(PNPLA6):c.3304G>A (p.Ala1102Thr) SNV Likely pathogenic 854645 GRCh37: 19:7622077-7622077
GRCh38: 19:7557191-7557191
21 PNPLA6 NM_001166114.2(PNPLA6):c.3816+1G>A SNV Likely pathogenic 445982 rs1490826010 GRCh37: 19:7625651-7625651
GRCh38: 19:7560765-7560765
22 PNPLA6 NM_001166114.2(PNPLA6):c.3699+9G>A SNV Conflicting interpretations of pathogenicity 537337 rs201144113 GRCh37: 19:7624046-7624046
GRCh38: 19:7559160-7559160
23 PNPLA6 NM_001166114.2(PNPLA6):c.2939G>C (p.Gly980Ala) SNV Conflicting interpretations of pathogenicity 581260 rs201902695 GRCh37: 19:7620495-7620495
GRCh38: 19:7555609-7555609
24 PNPLA6 NM_001166114.2(PNPLA6):c.162C>T (p.Ile54=) SNV Conflicting interpretations of pathogenicity 240702 rs200310048 GRCh37: 19:7600836-7600836
GRCh38: 19:7535950-7535950
25 PNPLA6 NM_001166114.2(PNPLA6):c.3450G>A (p.Gly1150=) SNV Conflicting interpretations of pathogenicity 240697 rs367675784 GRCh37: 19:7623788-7623788
GRCh38: 19:7558902-7558902
26 PNPLA6 NM_001166114.2(PNPLA6):c.684C>T (p.Asp228=) SNV Conflicting interpretations of pathogenicity 704529 rs375424103 GRCh37: 19:7605164-7605164
GRCh38: 19:7540278-7540278
27 PNPLA6 NM_001166114.2(PNPLA6):c.4077C>T (p.Pro1359=) SNV Conflicting interpretations of pathogenicity 698677 rs143060121 GRCh37: 19:7626427-7626427
GRCh38: 19:7561541-7561541
28 PNPLA6 NM_001166114.2(PNPLA6):c.1962C>T (p.Ser654=) SNV Conflicting interpretations of pathogenicity 702654 rs757870828 GRCh37: 19:7615418-7615418
GRCh38: 19:7550532-7550532
29 PNPLA6 NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) SNV Conflicting interpretations of pathogenicity 425159 rs145988230 GRCh37: 19:7618859-7618859
GRCh38: 19:7553973-7553973
30 PNPLA6 NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val) SNV Conflicting interpretations of pathogenicity 807470 rs568356836 GRCh37: 19:7615222-7615222
GRCh38: 19:7550336-7550336
31 PNPLA6 NM_001166114.2(PNPLA6):c.225A>G (p.Arg75=) SNV Conflicting interpretations of pathogenicity 392043 rs553088930 GRCh37: 19:7600899-7600899
GRCh38: 19:7536013-7536013
32 PNPLA6 NM_001166114.2(PNPLA6):c.3912C>T (p.Asp1304=) SNV Conflicting interpretations of pathogenicity 330538 rs149871062 GRCh37: 19:7625995-7625995
GRCh38: 19:7561109-7561109
33 PNPLA6 NM_001166114.2(PNPLA6):c.1935C>G (p.Arg645=) SNV Conflicting interpretations of pathogenicity 388843 rs138023728 GRCh37: 19:7615304-7615304
GRCh38: 19:7550418-7550418
34 PNPLA6 NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=) SNV Conflicting interpretations of pathogenicity 240698 rs138837774 GRCh37: 19:7623833-7623833
GRCh38: 19:7558947-7558947
35 PNPLA6 NM_001166114.2(PNPLA6):c.3549T>C (p.Val1183=) SNV Conflicting interpretations of pathogenicity 330536 rs35770729 GRCh37: 19:7623887-7623887
GRCh38: 19:7559001-7559001
36 PNPLA6 NM_001166114.2(PNPLA6):c.2924G>A (p.Gly975Glu) SNV Conflicting interpretations of pathogenicity 655912 rs1599305317 GRCh37: 19:7620241-7620241
GRCh38: 19:7555355-7555355
37 PNPLA6 NM_001166114.2(PNPLA6):c.3954C>T (p.Ala1318=) SNV Conflicting interpretations of pathogenicity 386390 rs34030828 GRCh37: 19:7626134-7626134
GRCh38: 19:7561248-7561248
38 PNPLA6 NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) SNV Conflicting interpretations of pathogenicity 240691 rs145191932 GRCh37: 19:7607741-7607741
GRCh38: 19:7542855-7542855
39 PNPLA6 NM_001166114.2(PNPLA6):c.1271G>A (p.Arg424His) SNV Uncertain significance 999133 GRCh37: 19:7607465-7607465
GRCh38: 19:7542579-7542579
40 PNPLA6 NM_001166114.2(PNPLA6):c.4060C>G (p.Leu1354Val) SNV Uncertain significance 999726 GRCh37: 19:7626410-7626410
GRCh38: 19:7561524-7561524
41 PNPLA6 NM_001166114.2(PNPLA6):c.2239C>G (p.Gln747Glu) SNV Uncertain significance 999863 GRCh37: 19:7616302-7616302
GRCh38: 19:7551416-7551416
42 PNPLA6 NM_001166114.2(PNPLA6):c.2908G>A (p.Ala970Thr) SNV Uncertain significance 1000068 GRCh37: 19:7620225-7620225
GRCh38: 19:7555339-7555339
43 PNPLA6 NM_001166114.2(PNPLA6):c.1079G>A (p.Arg360Lys) SNV Uncertain significance 1001522 GRCh37: 19:7606481-7606481
GRCh38: 19:7541595-7541595
44 PNPLA6 NM_001166114.2(PNPLA6):c.882G>A (p.Ala294=) SNV Uncertain significance 1001526 GRCh37: 19:7605895-7605895
GRCh38: 19:7541009-7541009
45 PNPLA6 NM_001166114.2(PNPLA6):c.2623A>C (p.Thr875Pro) SNV Uncertain significance 1001925 GRCh37: 19:7619598-7619598
GRCh38: 19:7554712-7554712
46 PNPLA6 NM_001166114.2(PNPLA6):c.1135G>A (p.Asp379Asn) SNV Uncertain significance 1002229 GRCh37: 19:7606537-7606537
GRCh38: 19:7541651-7541651
47 PNPLA6 NM_001166114.2(PNPLA6):c.4095del (p.Ter1366GluextTer?) Deletion Uncertain significance 1002344 GRCh37: 19:7626444-7626444
GRCh38: 19:7561558-7561558
48 PNPLA6 NM_001166114.2(PNPLA6):c.4071G>T (p.Glu1357Asp) SNV Uncertain significance 1003032 GRCh37: 19:7626421-7626421
GRCh38: 19:7561535-7561535
49 PNPLA6 NM_001166114.2(PNPLA6):c.1448C>T (p.Pro483Leu) SNV Uncertain significance 1003550 GRCh37: 19:7607732-7607732
GRCh38: 19:7542846-7542846
50 PNPLA6 NM_001166114.2(PNPLA6):c.1608+17_1608+18inv Inversion Uncertain significance 1003656 GRCh37: 19:7607987-7607988
GRCh38: 19:7543101-7543102

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

72
# 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

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 GO:0005783 9.56 WASHC5 SPAST SLC33A1 PNPLA6 GBA2 FA2H
2 midbody GO:0030496 9.43 ZFYVE26 SPAST SPART
3 endoplasmic reticulum membrane GO:0005789 9.17 SPAST SLC33A1 PNPLA6 GBA2 FA2H CYP7B1
4 endoplasmic reticulum tubular network GO:0071782 9.16 SPAST ATL1

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

# Name GO ID Score Top Affiliating Genes
1 lipid catabolic process GO:0016042 9.33 PNPLA6 DDHD2 DDHD1
2 anterograde axonal transport GO:0008089 9.32 SPG7 SPAST
3 lipid droplet organization GO:0034389 9.26 SPART DDHD2
4 lipid metabolic process GO:0006629 9.1 PNPLA6 GBA2 FA2H DDHD2 DDHD1 CYP7B1
5 positive regulation of mitochondrial fission GO:0090141 8.96 DDHD2 DDHD1

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

# Name GO ID Score Top Affiliating Genes
1 phospholipase activity GO:0004620 8.62 DDHD2 DDHD1

Sources for Spastic Paraplegia 39, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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