SPG8
MCID: SPS149
MIFTS: 41

Spastic Paraplegia 8, Autosomal Dominant (SPG8)

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 8, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 8, Autosomal Dominant:

Name: Spastic Paraplegia 8, Autosomal Dominant 57 74 13 72
Spg8 57 12 59 74
Autosomal Dominant Spastic Paraplegia Type 8 12 59
Hereditary Spastic Paraplegia 8 12 15
Paraplegia, Spastic, Autosomal Dominant, Type 8 40
Autosomal Dominant Spastic Paraplegia 8 12

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant spastic paraplegia type 8
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Miscellaneous:
insidious onset
progressive disorder
severe phenotype
adult onset (18 to 60 years)

Inheritance:
autosomal dominant


HPO:

32
spastic paraplegia 8, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive adult onset insidious onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110823
MeSH 44 D015419
ICD10 33 G11.4
MESH via Orphanet 45 C536867
ICD10 via Orphanet 34 G11.4
UMLS via Orphanet 73 C1863704
Orphanet 59 ORPHA100989
MedGen 42 C1863704
UMLS 72 C1863704

Summaries for Spastic Paraplegia 8, Autosomal Dominant

OMIM : 57 Spastic paraplegia-8 is an autosomal dominant neurologic disorder characterized by adult onset of progressive lower limb spasticity and hyperreflexia resulting in difficulty walking. Some patients may become wheelchair-bound after several decades. Other features may include upper limb spasticity, impaired vibration sense in the distal lower limbs, and urinary urgency or incontinence (summary by de Bot et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600). (603563)

MalaCards based summary : Spastic Paraplegia 8, Autosomal Dominant, also known as spg8, is related to spasticity and spastic paraplegia 4, autosomal dominant, and has symptoms including urgency of micturition An important gene associated with Spastic Paraplegia 8, Autosomal Dominant is WASHC5 (WASH Complex Subunit 5). Affiliated tissues include spinal cord and breast, and related phenotypes are babinski sign and difficulty walking

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the KIAA0196 gene on chromosome 8q24.

UniProtKB/Swiss-Prot : 74 Spastic paraplegia 8, autosomal dominant: 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.

Related Diseases for Spastic Paraplegia 8, Autosomal Dominant

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 spasticity 29.5 WASHC5 SPAST KIF1A
2 spastic paraplegia 4, autosomal dominant 29.2 SPG11 SPAST ERLIN2 ATL1
3 spastic paraplegia 6, autosomal dominant 28.3 SPAST KIF5A ERLIN2 ATL1 AP5Z1
4 paraplegia 26.7 WASHC5 SPG11 SPAST KIF5A KIF1A ERLIN2
5 hereditary spastic paraplegia 26.7 WASHC5 SPG11 SPAST KIF5A KIF1A ERLIN2
6 spastic paraplegia 8 11.7
7 spastic paraplegia 32, autosomal recessive 10.2 SPG11 ATL1
8 ataxia and polyneuropathy, adult-onset 10.1
9 spastic paraplegia 4 10.1
10 spastic paraplegia 6 10.1
11 pure hereditary spastic paraplegia 10.1
12 spastic paraplegia 15, autosomal recessive 10.1 SPG11 AP5Z1
13 spastic paraplegia 2, x-linked 10.1 ATL1 AP5Z1
14 spastic paraplegia 61, autosomal recessive 10.1 SPAST ATL1
15 spastic paraplegia 33, autosomal dominant 10.0 SPAST AP5Z1
16 spastic paraplegia 10 10.0 SPAST KIF5A
17 spastic paraparesis 9.9 SPG11 SPAST
18 spastic paraplegia 18, autosomal recessive 9.8 WASHC5 ERLIN2 AP5Z1
19 spastic paraplegia 47, autosomal recessive 9.8 WASHC5 ERLIN2 AP5Z1
20 spastic paraplegia 39, autosomal recessive 9.8 WASHC5 ERLIN2 AP5Z1
21 spastic paraplegia 42, autosomal dominant 9.8 WASHC5 ERLIN2 AP5Z1
22 spastic paraplegia 3, autosomal dominant 9.7 SPG11 SPAST ATL1
23 spastic paraplegia 48, autosomal recessive 9.7 SPG11 ERLIN2 AP5Z1
24 spastic paraplegia 35, autosomal recessive 9.7 SPG11 ERLIN2 AP5Z1
25 hereditary sensory neuropathy 9.5 KIF1A ATL1
26 axonal neuropathy 9.5 SPG11 KIF5A
27 spastic paraplegia 31, autosomal dominant 9.4 SPG11 SPAST ATL1 AP5Z1
28 masa syndrome 9.4 SPG11 SPAST ATL1 AP5Z1
29 charcot-marie-tooth disease, axonal, type 2k 9.4 KIF5A KIF1A
30 spastic paraplegia 10, autosomal dominant 9.3 SPG11 KIF5A ATL1 AP5Z1
31 spastic paraplegia 30, autosomal recessive 9.1 WASHC5 KIF1A ERLIN2 AP5Z1
32 spastic paraplegia 13, autosomal dominant 9.0 WASHC5 SPAST ERLIN2 ATL1 AP5Z1
33 spastic paraplegia 12, autosomal dominant 8.7 SPAST KIF5A ERLIN2 ATL1 AP5Z1

Graphical network of the top 20 diseases related to Spastic Paraplegia 8, Autosomal Dominant:



Diseases related to Spastic Paraplegia 8, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 8, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 8, Autosomal Dominant:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
2 difficulty walking 59 32 hallmark (90%) Very frequent (99-80%) HP:0002355
3 degeneration of the lateral corticospinal tracts 59 32 hallmark (90%) Very frequent (99-80%) HP:0002314
4 progressive spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007020
5 limb ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002070
6 lower limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0007340
7 impaired vibration sensation in the lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0002166
8 spinal cord lesion 59 32 frequent (33%) Frequent (79-30%) HP:0100561
9 urinary urgency 59 32 frequent (33%) Frequent (79-30%) HP:0000012
10 spastic gait 59 32 frequent (33%) Frequent (79-30%) HP:0002064
11 progressive pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0008075
12 urinary incontinence 59 32 frequent (33%) Frequent (79-30%) HP:0000020
13 peroneal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0009049
14 limb dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0002406
15 muscle spasm 32 frequent (33%) HP:0003394
16 clonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0002169
17 upper limb spasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0006986
18 hyperreflexia 59 32 Very frequent (99-80%) HP:0001347
19 lower limb spasticity 59 32 Very frequent (99-80%) HP:0002061
20 emg abnormality 59 Excluded (0%)
21 pes cavus 32 HP:0001761
22 urinary bladder sphincter dysfunction 32 HP:0002839
23 muscle cramps 59 Frequent (79-30%)
24 spastic paraplegia 32 HP:0001258
25 abnormality of the cerebrospinal fluid 59 Excluded (0%)
26 abnormal lower-limb motor evoked potentials 59 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
degeneration of the lateral corticospinal tracts
spastic gait
extensor plantar responses
more
Genitourinary Bladder:
urinary urgency
urinary incontinence
sphincter disturbances

Muscle Soft Tissue:
atrophy of shins

Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
decreased vibratory sense in the lower limbs

Clinical features from OMIM:

603563

UMLS symptoms related to Spastic Paraplegia 8, Autosomal Dominant:


urgency of micturition

Drugs & Therapeutics for Spastic Paraplegia 8, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 8, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 8, Autosomal Dominant

Anatomical Context for Spastic Paraplegia 8, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 8, Autosomal Dominant:

41
Spinal Cord, Breast

Publications for Spastic Paraplegia 8, Autosomal Dominant

Articles related to Spastic Paraplegia 8, Autosomal Dominant:

(show all 27)
# Title Authors PMID Year
1
Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene. 38 8 71
23455931 2013
2
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. 38 8 71
17160902 2007
3
Spastic Paraplegia 8 38 71
20301727 2008
4
Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. 38 8
10797436 2000
5
Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. 71
20833645 2010
6
Hereditary Spastic Paraplegia Overview 71
20301682 2000
7
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. 8
9973294 1999
8
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes. 38
30778698 2019
9
Expression of N471D strumpellin leads to defects in the endolysosomal system. 38
30061306 2018
10
A novel KIAA0196 mutation in a Chinese patient with spastic paraplegia 8: A case report. 38
29768361 2018
11
Clinical and genetic study of hereditary spastic paraplegia in Canada. 38
27957547 2017
12
Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8. 38
26967522 2016
13
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8. 38
26572744 2015
14
A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8. 38
25454649 2014
15
[Japan Spastic Paraplegia Research Consortium (JASPAC)]. 38
25296875 2014
16
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. 38
24931836 2014
17
[Hereditary spastic paraplegia: up to date]. 38
25519960 2014
18
A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia. 38
24824269 2014
19
Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. 38
23881105 2013
20
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 38
23897027 2013
21
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 38
22554690 2012
22
[Hereditary spastic paraplegia in Japan]. 38
22277506 2011
23
[Japan spastic paraplegia research consortium (JASPAC)]. 38
21921516 2010
24
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 38
18364116 2008
25
High-resolution aCGH and expression profiling identifies a novel genomic subtype of ER negative breast cancer. 38
17925008 2007
26
Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia. 38
16143870 2005
27
Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity. 38
10563637 1999

Variations for Spastic Paraplegia 8, Autosomal Dominant

ClinVar genetic disease variations for Spastic Paraplegia 8, Autosomal Dominant:

6 (show top 50) (show all 51)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 WASHC5 NM_014846.4(WASHC5): c.1876G> T (p.Val626Phe) single nucleotide variant Pathogenic rs80338867 8:126069059-126069059 8:125056817-125056817
2 WASHC5 NM_014846.4(WASHC5): c.1857G> C (p.Leu619Phe) single nucleotide variant Pathogenic rs80338866 8:126069816-126069816 8:125057574-125057574
3 WASHC5 NM_014846.4(WASHC5): c.1411A> G (p.Asn471Asp) single nucleotide variant Pathogenic rs80338865 8:126073434-126073434 8:125061192-125061192
4 WASHC5 NM_014846.4(WASHC5): c.1857G> T (p.Leu619Phe) single nucleotide variant Pathogenic rs80338866 8:126069816-126069816 8:125057574-125057574
5 WASHC5 NM_014846.4(WASHC5): c.2087G> C (p.Gly696Ala) single nucleotide variant Pathogenic rs397515564 8:126067843-126067843 8:125055601-125055601
6 WASHC5 NM_014846.4(WASHC5): c.704dup (p.Tyr235Ter) duplication Pathogenic 8:126090987-126090987 8:125078745-125078745
7 WASHC5 NM_014846.4(WASHC5): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic 8:126091009-126091009 8:125078767-125078767
8 WASHC5 NM_014846.4(WASHC5): c.511C> T (p.Arg171Ter) single nucleotide variant Pathogenic 8:126093910-126093910 8:125081668-125081668
9 WASHC5 NM_014846.4(WASHC5): c.3020_3021AC[2] (p.Leu1009fs) short repeat Pathogenic 8:126051131-126051132 8:125038889-125038890
10 WASHC5 NM_014846.4(WASHC5): c.526C> T (p.Arg176Ter) single nucleotide variant Pathogenic 8:126091165-126091165 8:125078923-125078923
11 WASHC5 NM_014846.4(WASHC5): c.1151-2A> G single nucleotide variant Likely pathogenic 8:126079963-126079963 8:125067721-125067721
12 WASHC5 NM_014846.4(WASHC5): c.1772C> T (p.Ser591Phe) single nucleotide variant Likely pathogenic rs1554593899 8:126069901-126069901 8:125057659-125057659
13 WASHC5 NM_014846.4(WASHC5): c.647C> T (p.Pro216Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72720524 8:126091044-126091044 8:125078802-125078802
14 WASHC5 NM_014846.4(WASHC5): c.2971A> G (p.Ile991Val) single nucleotide variant Uncertain significance rs1554591077 8:126051185-126051185 8:125038943-125038943
15 WASHC5 NM_014846.4(WASHC5): c.2422A> G (p.Ile808Val) single nucleotide variant Uncertain significance rs144507279 8:126059531-126059531 8:125047289-125047289
16 WASHC5 NM_014846.4(WASHC5): c.2086G> A (p.Gly696Ser) single nucleotide variant Uncertain significance rs1060502725 8:126067844-126067844 8:125055602-125055602
17 WASHC5 NM_014846.4(WASHC5): c.1771T> C (p.Ser591Pro) single nucleotide variant Uncertain significance rs1554593901 8:126069902-126069902 8:125057660-125057660
18 WASHC5 NM_014846.4(WASHC5): c.2090_2092TCA[1] (p.Ile698del) short repeat Uncertain significance rs1554593551 8:126067835-126067837 8:125055593-125055595
19 WASHC5 NM_014846.4(WASHC5): c.1942G> A (p.Asp648Asn) single nucleotide variant Uncertain significance rs758919422 8:126068993-126068993 8:125056751-125056751
20 WASHC5 NM_014846.4(WASHC5): c.413T> G (p.Leu138Arg) single nucleotide variant Uncertain significance 8:126094629-126094629 8:125082387-125082387
21 WASHC5 NM_014846.4(WASHC5): c.2087G> A (p.Gly696Asp) single nucleotide variant Uncertain significance 8:126067843-126067843 8:125055601-125055601
22 WASHC5 NM_014846.4(WASHC5): c.2003G> T (p.Gly668Val) single nucleotide variant Uncertain significance 8:126068932-126068932 8:125056690-125056690
23 WASHC5 NM_014846.4(WASHC5): c.1178G> A (p.Arg393His) single nucleotide variant Uncertain significance 8:126079934-126079934 8:125067692-125067692
24 NSD1 NM_022455.4(NSD1): c.7976C> T (p.Ala2659Val) single nucleotide variant Uncertain significance 5:176722345-176722345 5:177295344-177295344
25 WASHC5 NM_014846.4(WASHC5): c.2327G> A (p.Arg776His) single nucleotide variant Uncertain significance 8:126061300-126061300 8:125049058-125049058
26 DNM1L NM_012062.5(DNM1L): c.251-1540C> G single nucleotide variant Uncertain significance 12:32858761-32858761 12:32705827-32705827
27 TBK1 NM_013254.4(TBK1): c.290T> A (p.Val97Asp) single nucleotide variant Uncertain significance 12:64858175-64858175 12:64464395-64464395
28 SETBP1 NM_015559.3(SETBP1): c.4771G> A (p.Glu1591Lys) single nucleotide variant Uncertain significance 18:42643643-42643643 18:45063678-45063678
29 WASHC5 NM_014846.4(WASHC5): c.3269G> A (p.Arg1090Gln) single nucleotide variant Uncertain significance 8:126044549-126044549 8:125032307-125032307
30 WASHC5 NM_014846.4(WASHC5): c.2158T> G (p.Phe720Val) single nucleotide variant Uncertain significance 8:126062847-126062847 8:125050605-125050605
31 WASHC5 NM_014846.4(WASHC5): c.1297T> C (p.Ser433Pro) single nucleotide variant Uncertain significance 8:126075875-126075875 8:125063633-125063633
32 WASHC5 NM_014846.4(WASHC5): c.572G> A (p.Arg191Gln) single nucleotide variant Uncertain significance 8:126091119-126091119 8:125078877-125078877
33 WASHC5 NM_014846.4(WASHC5): c.2769C> T (p.Val923=) single nucleotide variant Uncertain significance 8:126056235-126056235 8:125043993-125043993
34 WASHC5 NM_014846.4(WASHC5): c.3047A> G (p.Tyr1016Cys) single nucleotide variant Uncertain significance 8:126051109-126051109 8:125038867-125038867
35 WASHC5 NM_014846.4(WASHC5): c.872G> A (p.Ser291Asn) single nucleotide variant Uncertain significance rs753529606 8:126087346-126087346 8:125075104-125075104
36 WASHC5 NM_014846.4(WASHC5): c.1747A> G (p.Arg583Gly) single nucleotide variant Uncertain significance 8:126071481-126071481 8:125059239-125059239
37 WASHC5 NM_014846.4(WASHC5): c.166T> C (p.Phe56Leu) single nucleotide variant Uncertain significance 8:126095975-126095975 8:125083733-125083733
38 WASHC5 NM_014846.4(WASHC5): c.1785G> T (p.Leu595=) single nucleotide variant Likely benign rs1044612540 8:126069888-126069888 8:125057646-125057646
39 WASHC5 NM_014846.4(WASHC5): c.1668C> T (p.Phe556=) single nucleotide variant Likely benign rs199725572 8:126071638-126071638 8:125059396-125059396
40 WASHC5 NM_014846.4(WASHC5): c.2016+10C> G single nucleotide variant Likely benign rs1260941212 8:126068909-126068909 8:125056667-125056667
41 WASHC5 NM_014846.4(WASHC5): c.885G> A (p.Gly295=) single nucleotide variant Likely benign rs1435894101 8:126087333-126087333 8:125075091-125075091
42 WASHC5 NM_014846.4(WASHC5): c.3210G> A (p.Pro1070=) single nucleotide variant Likely benign rs200733182 8:126044608-126044608 8:125032366-125032366
43 WASHC5 NM_014846.4(WASHC5): c.3319G> A (p.Val1107Met) single nucleotide variant Benign/Likely benign rs138407503 8:126044499-126044499 8:125032257-125032257
44 WASHC5 NM_014846.4(WASHC5): c.1408+7A> G single nucleotide variant Benign/Likely benign rs16900312 8:126075757-126075757 8:125063515-125063515
45 WASHC5 NM_014846.4(WASHC5): c.1245A> G (p.Leu415=) single nucleotide variant Benign/Likely benign rs10429323 8:126079867-126079867 8:125067625-125067625
46 WASHC5 NM_014846.4(WASHC5): c.3225A> G (p.Pro1075=) single nucleotide variant Benign/Likely benign rs34569226 8:126044593-126044593 8:125032351-125032351
47 WASHC5 NM_014846.4(WASHC5): c.1151-8G> A single nucleotide variant Benign/Likely benign rs16900335 8:126079969-126079969 8:125067727-125067727
48 WASHC5 NM_014846.4(WASHC5): c.187-3C> T single nucleotide variant Benign rs16900368 8:126095503-126095503 8:125083261-125083261
49 WASHC5 NM_014846.4(WASHC5): c.867A> C (p.Val289=) single nucleotide variant Benign rs79464415 8:126087351-126087351 8:125075109-125075109
50 WASHC5 NM_014846.4(WASHC5): c.3291G> A (p.Ala1097=) single nucleotide variant Benign rs11542889 8:126044527-126044527 8:125032285-125032285

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 8, Autosomal Dominant:

74
# Symbol AA change Variation ID SNP ID
1 WASHC5 p.Asn471Asp VAR_031955 rs80338865
2 WASHC5 p.Leu619Phe VAR_031956 rs80338866
3 WASHC5 p.Val626Phe VAR_031957 rs80338867
4 WASHC5 p.Ile226Thr VAR_069984 rs755285830
5 WASHC5 p.Gly696Ala VAR_069985 rs397515564
6 WASHC5 p.Val620Ala VAR_072417

Expression for Spastic Paraplegia 8, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 8, Autosomal Dominant.

Pathways for Spastic Paraplegia 8, Autosomal Dominant

GO Terms for Spastic Paraplegia 8, Autosomal Dominant

Cellular components related to Spastic Paraplegia 8, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.95 WASHC5 SPG11 SPAST KIF5A KIF1A ATL1
2 neuron projection GO:0043005 9.54 WASHC5 KIF5A KIF1A
3 neuronal cell body GO:0043025 9.5 WASHC5 KIF5A KIF1A
4 axon GO:0030424 9.43 SPG11 KIF1A ATL1
5 microtubule GO:0005874 9.33 SPAST KIF5A KIF1A
6 kinesin complex GO:0005871 8.96 KIF5A KIF1A
7 axon cytoplasm GO:1904115 8.8 SPAST KIF5A KIF1A

Biological processes related to Spastic Paraplegia 8, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axonogenesis GO:0007409 9.37 SPAST ATL1
2 microtubule-based movement GO:0007018 9.32 KIF5A KIF1A
3 endosomal transport GO:0016197 9.26 WASHC5 AP5Z1
4 anterograde axonal transport GO:0008089 9.16 SPAST KIF1A
5 synaptic vesicle transport GO:0048489 8.96 SPG11 KIF5A
6 retrograde neuronal dense core vesicle transport GO:1990049 8.62 KIF5A KIF1A

Molecular functions related to Spastic Paraplegia 8, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.33 SPAST KIF5A KIF1A
2 motor activity GO:0003774 9.32 KIF5A KIF1A
3 microtubule motor activity GO:0003777 9.26 KIF5A KIF1A
4 microtubule binding GO:0008017 9.13 SPAST KIF5A KIF1A
5 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 8.62 KIF5A KIF1A

Sources for Spastic Paraplegia 8, Autosomal Dominant

3 CDC
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18 ExPASy
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73 UMLS via Orphanet
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