SPG39
MCID: SPS129
MIFTS: 34

Spastic Paraplegia 39, Autosomal Recessive (SPG39)

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Aliases & Classifications for Spastic Paraplegia 39, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 39, Autosomal Recessive:

Name: Spastic Paraplegia 39, Autosomal Recessive 58 76 13 74
Spg39 58 12 60 76
Nte-Related Motor Neuron Disorder 58 12 76
Ntemnd 58 12 76
Spastic Paraplegia Due to Neuropathy Target Esterase Mutation 12 60
Autosomal Recessive Spastic Paraplegia Type 39 12 60
Spastic Paraplegia Due to Nte Mutation 12 60
Hereditary Spastic Paraplegia 39 12 15
Nte-Related Motor Neuron Disorder; Ntemnd 58
Autosomal Recessive Spastic Paraplegia 39 12

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive spastic paraplegia type 39
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
spastic paraplegia 39, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110790
OMIM 58 612020
MeSH 45 D015419
ICD10 34 G11.4
ICD10 via Orphanet 35 G11.4
UMLS via Orphanet 75 C2677586
Orphanet 60 ORPHA139480
MedGen 43 C2677586
UMLS 74 C2677586

Summaries for Spastic Paraplegia 39, Autosomal Recessive

UniProtKB/Swiss-Prot : 76 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). Affiliated tissues include spinal cord, and related phenotypes are hyperreflexia and babinski sign

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

OMIM : 58 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 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 Hereditary Spastic Paraplegia
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, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 39 11.5
2 boucher-neuhauser syndrome 11.1
3 hereditary spastic paraplegia 51 10.1 AP4S1 AP5Z1
4 spastic paraplegia 50, autosomal recessive 10.1 AP4S1 AP5Z1
5 spastic paraplegia 52, autosomal recessive 10.0 AP4S1 AP5Z1
6 spastic paraplegia 28, autosomal recessive 10.0 AP4S1 AP5Z1
7 spastic paraplegia 54, autosomal recessive 10.0 AP4S1 AP5Z1
8 spastic paraplegia 56, autosomal recessive 10.0 AP4S1 AP5Z1
9 spastic paraplegia 15, autosomal recessive 10.0 AP5Z1 ZFYVE26
10 spastic paraplegia 33, autosomal dominant 9.9 AP5Z1 REEP1
11 spastic paraplegia 31, autosomal dominant 9.8 AP5Z1 REEP1
12 spastic paraplegia 48, autosomal recessive 9.8 AP5Z1 ERLIN2 ZFYVE26
13 spastic paraplegia 35, autosomal recessive 9.8 AP5Z1 ERLIN2 ZFYVE26
14 spastic paraplegia 2, x-linked 9.8 AP5Z1 REEP1
15 spastic paraplegia 13, autosomal dominant 9.8 AP5Z1 ERLIN2 WASHC5
16 spastic paraplegia 10, autosomal dominant 9.7 AP5Z1 REEP1
17 masa syndrome 9.7 AP5Z1 REEP1
18 spastic paraplegia 6, autosomal dominant 9.7 AP5Z1 ERLIN2 REEP1
19 spastic paraplegia 12, autosomal dominant 9.6 AP5Z1 ERLIN2 REEP1
20 spastic paraplegia 4, autosomal dominant 9.5 ERLIN2 REEP1
21 spastic paraplegia 18, autosomal recessive 9.3 AP5Z1 ERLIN2 REEP1 WASHC5
22 spastic paraplegia 47, autosomal recessive 9.3 AP5Z1 ERLIN2 REEP1 WASHC5
23 spastic paraplegia 30, autosomal recessive 9.3 AP5Z1 ERLIN2 REEP1 WASHC5
24 spastic paraplegia 42, autosomal dominant 9.3 AP5Z1 ERLIN2 REEP1 WASHC5
25 spastic paraplegia 8, autosomal dominant 9.3 AP5Z1 ERLIN2 REEP1 WASHC5
26 paraplegia 8.8 AP5Z1 ERLIN2 PNPLA6 REEP1 WASHC5 ZFYVE26
27 hereditary spastic paraplegia 8.8 AP5Z1 ERLIN2 PNPLA6 REEP1 WASHC5 ZFYVE26

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:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
2 babinski sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487
3 spastic paraplegia 60 33 frequent (33%) Frequent (79-30%) HP:0001258
4 generalized limb muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0009055
5 atrophy of the spinal cord 60 33 frequent (33%) Frequent (79-30%) HP:0006827
6 motor axonal neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0007002
7 gait ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002066
8 cerebellar atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001272
9 ataxia 33 occasional (7.5%) HP:0001251
10 gait disturbance 33 HP:0001288
11 lower limb spasticity 60 Frequent (79-30%)
12 progressive spastic paraplegia 33 HP:0007020
13 distal lower limb muscle weakness 33 HP:0009053
14 distal amyotrophy 33 HP:0003693

Symptoms via clinical synopsis from OMIM:

58
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:

42
Spinal Cord

Publications for Spastic Paraplegia 39, Autosomal Recessive

Variations for Spastic Paraplegia 39, Autosomal Recessive

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

76
# 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

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

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.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs765249233 GRCh37 Chromosome 19, 7600438: 7600438
14 PNPLA6 NM_006702.4(PNPLA6): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs765249233 GRCh38 Chromosome 19, 7535552: 7535552
15 PNPLA6 NM_006702.4(PNPLA6): c.45C> T (p.Ile15=) single nucleotide variant Benign rs200310048 GRCh38 Chromosome 19, 7535950: 7535950
16 PNPLA6 NM_006702.4(PNPLA6): c.45C> T (p.Ile15=) single nucleotide variant Benign rs200310048 GRCh37 Chromosome 19, 7600836: 7600836
17 MCOLN1; PNPLA6 NM_006702.4(PNPLA6): c.64G> C (p.Val22Leu) single nucleotide variant Benign/Likely benign rs112732576 GRCh37 Chromosome 19, 7600855: 7600855
18 MCOLN1; PNPLA6 NM_006702.4(PNPLA6): c.64G> C (p.Val22Leu) single nucleotide variant Benign/Likely benign rs112732576 GRCh38 Chromosome 19, 7535969: 7535969
19 PNPLA6 NM_006702.4(PNPLA6): c.116-8A> G single nucleotide variant Likely benign rs369490744 GRCh37 Chromosome 19, 7601069: 7601069
20 PNPLA6 NM_006702.4(PNPLA6): c.116-8A> G single nucleotide variant Likely benign rs369490744 GRCh38 Chromosome 19, 7536183: 7536183
21 PNPLA6 NM_006702.4(PNPLA6): c.1340C> T (p.Pro447Leu) single nucleotide variant Benign/Likely benign rs145191932 GRCh37 Chromosome 19, 7607741: 7607741
22 PNPLA6 NM_006702.4(PNPLA6): c.1340C> T (p.Pro447Leu) single nucleotide variant Benign/Likely benign rs145191932 GRCh38 Chromosome 19, 7542855: 7542855
23 PNPLA6 NM_006702.4(PNPLA6): c.1587C> G (p.Pro529=) single nucleotide variant Benign rs62111288 GRCh37 Chromosome 19, 7614888: 7614888
24 PNPLA6 NM_006702.4(PNPLA6): c.1587C> G (p.Pro529=) single nucleotide variant Benign rs62111288 GRCh38 Chromosome 19, 7550002: 7550002
25 PNPLA6 NM_006702.4(PNPLA6): c.2980-5C> T single nucleotide variant Benign rs116788699 GRCh37 Chromosome 19, 7621334: 7621334
26 PNPLA6 NM_006702.4(PNPLA6): c.2980-5C> T single nucleotide variant Benign rs116788699 GRCh38 Chromosome 19, 7556448: 7556448
27 PNPLA6 NM_006702.4(PNPLA6): c.2981G> C (p.Ser994Thr) single nucleotide variant Uncertain significance rs377449787 GRCh37 Chromosome 19, 7621340: 7621340
28 PNPLA6 NM_006702.4(PNPLA6): c.2981G> C (p.Ser994Thr) single nucleotide variant Uncertain significance rs377449787 GRCh38 Chromosome 19, 7556454: 7556454
29 PNPLA6 NM_006702.4(PNPLA6): c.3261C> T (p.Gly1087=) single nucleotide variant Likely benign rs375987938 GRCh38 Chromosome 19, 7557262: 7557262
30 PNPLA6 NM_006702.4(PNPLA6): c.3261C> T (p.Gly1087=) single nucleotide variant Likely benign rs375987938 GRCh37 Chromosome 19, 7622148: 7622148
31 PNPLA6 NM_006702.4(PNPLA6): c.3336G> A (p.Gly1112=) single nucleotide variant Likely benign rs367675784 GRCh37 Chromosome 19, 7623788: 7623788
32 PNPLA6 NM_006702.4(PNPLA6): c.3336G> A (p.Gly1112=) single nucleotide variant Likely benign rs367675784 GRCh38 Chromosome 19, 7558902: 7558902
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

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 8.92 ERLIN2 PNPLA6 REEP1 WASHC5

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

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.33 AP4S1 AP5Z1 WASHC5
2 double-strand break repair via homologous recombination GO:0000724 8.96 AP5Z1 ZFYVE26
3 endosomal transport GO:0016197 8.62 AP5Z1 WASHC5

Sources for Spastic Paraplegia 39, Autosomal Recessive

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