SPG8
MCID: SPS149
MIFTS: 45

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 56 73 13 71
Spg8 56 12 58 73
Autosomal Dominant Spastic Paraplegia Type 8 12 58
Hereditary Spastic Paraplegia 8 12 15
Paraplegia, Spastic, Autosomal Dominant, Type 8 39
Autosomal Dominant Spastic Paraplegia 8 12

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant spastic paraplegia type 8
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Miscellaneous:
insidious onset
progressive disorder
severe phenotype
adult onset (18 to 60 years)

Inheritance:
autosomal dominant


HPO:

31
spastic paraplegia 8, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive adult onset insidious onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110823
OMIM 56 603563
OMIM Phenotypic Series 56 PS303350
MeSH 43 D015419
ICD10 32 G11.4
MESH via Orphanet 44 C536867
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C1863704
Orphanet 58 ORPHA100989
MedGen 41 C1863704
UMLS 71 C1863704

Summaries for Spastic Paraplegia 8, Autosomal Dominant

OMIM : 56 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 pure hereditary spastic paraplegia and spasticity, and has symptoms including urgency of micturition An important gene associated with Spastic Paraplegia 8, Autosomal Dominant is WASHC5 (WASH Complex Subunit 5), and among its related pathways/superpathways is Endocytosis. Affiliated tissues include spinal cord, breast and eye, 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 : 73 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 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 8, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 pure hereditary spastic paraplegia 30.2 SPAST NIPA1 KIF5A ATL1
2 spasticity 30.2 WASHC5 SPAST REEP1 KIF1A
3 spastic paraparesis 30.1 SPG11 SPAST KIF1A
4 spastic paraplegia 3, autosomal dominant 29.2 ZFYVE26 WASHC5 SPG11 SPAST REEP1 NIPA1
5 spastic paraplegia 31, autosomal dominant 27.6 ZFYVE27 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
6 paraplegia 26.8 ZFYVE27 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
7 hereditary spastic paraplegia 26.5 ZFYVE27 ZFYVE26 WASHC5 WASHC4 SPG21 SPG11
8 spastic paraplegia 4, autosomal dominant 26.3 ZFYVE27 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
9 spastic paraplegia 6, autosomal dominant 26.1 ZFYVE27 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
10 spastic paraplegia 8 11.7
11 neuropathy, hereditary sensory, type id 10.3 KIF5A ATL1
12 complex hereditary spastic paraplegia 10.3 SPG11 NIPA1
13 spastic paraplegia 28, autosomal recessive 10.3 SPG11 REEP1
14 spastic paraplegia 77, autosomal recessive 10.3 ZFYVE26 SPG11
15 spastic paraplegia 41, autosomal dominant 10.3 SPG21 SPAST
16 spinal cord neuroblastoma 10.3 ZFYVE27 REEP1
17 spinocerebellar ataxia, autosomal recessive 20 10.2 ZFYVE26 SPG11
18 spinal cord primitive neuroectodermal neoplasm 10.2 ZFYVE27 REEP1
19 spastic paraplegia 4 10.2
20 spastic paraplegia 27, autosomal recessive 10.2 SPG21 SLC33A1
21 spastic paraplegia 64, autosomal recessive 10.2 SPG21 SPG11
22 spastic paraplegia 49, autosomal recessive 10.1 ZFYVE26 SPG21 SPG11
23 charcot-marie-tooth disease, axonal, type 2r 10.1 ZFYVE26 SPG21
24 spastic paraplegia 11, autosomal recessive 10.1 ZFYVE26 SPG21 SPG11
25 spastic paraplegia 63, autosomal recessive 10.1 SPG21 SPG11
26 spastic ataxia 2 10.1 REEP1 KIF1A
27 spastic paraplegia 55, autosomal recessive 10.1 ZFYVE26 SPG21 SPG11
28 wiskott-aldrich syndrome 10.1
29 ataxia and polyneuropathy, adult-onset 10.1
30 spastic paraplegia 3a 10.1
31 spastic paraplegia 6 10.1
32 spastic paraplegia 5a, autosomal recessive 10.0 ZFYVE26 SPG11 SPAST KIF5A
33 spastic paraplegia 61, autosomal recessive 10.0 SPG21 SPAST REEP1 ATL1
34 spastic paraplegia 34, x-linked 10.0 ZFYVE26 WASHC5 SPG21 SLC33A1
35 spastic paraplegia 29, autosomal dominant 10.0 ZFYVE26 WASHC5 SPG21 SLC33A1
36 spastic paraplegia 37, autosomal dominant 10.0 ZFYVE26 WASHC5 SPG21 SLC33A1
37 spastic paraplegia 25, autosomal recessive 10.0 ZFYVE26 WASHC5 SPG21 SLC33A1
38 spastic paraplegia 19, autosomal dominant 10.0 ZFYVE26 WASHC5 SPG21 SLC33A1
39 spastic paraplegia 32, autosomal recessive 9.9 ZFYVE26 SPG21 SPG11 SLC33A1
40 spastic paraplegia 53, autosomal recessive 9.9 SLC33A1 ATL1 AP5Z1
41 pseudobulbar palsy 9.9 SPART KIF5A
42 spastic paraplegia 56, autosomal recessive 9.8 SPG21 SPG11 AP5Z1
43 spastic paraplegia 57, autosomal recessive 9.8 SPG11 REEP1 KIF5A KIF1A
44 charcot-marie-tooth disease, axonal, type 2k 9.8 KIF5A KIF1A
45 charcot-marie-tooth disease, axonal, type 2t 9.8 ZFYVE26 SPG21
46 neuropathy, hereditary sensory, type iic 9.8 SPG21 SPG11 REEP1 KIF1A
47 spastic paraplegia 43, autosomal recessive 9.8 ZFYVE27 ZFYVE26 SPG11 SPAST SLC33A1
48 hereditary spastic paraplegia 51 9.7 ZFYVE26 SPG11 NIPA1 AP5Z1
49 spastic paraplegia 54, autosomal recessive 9.7 SPG21 SPG11 REEP1 AP5Z1
50 spastic paraplegia 52, autosomal recessive 9.7 ZFYVE26 SPG21 SPG11 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:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
2 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
3 degeneration of the lateral corticospinal tracts 58 31 hallmark (90%) Very frequent (99-80%) HP:0002314
4 progressive spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007020
5 limb ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002070
6 lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0007340
7 impaired vibration sensation in the lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0002166
8 spinal cord lesion 58 31 frequent (33%) Frequent (79-30%) HP:0100561
9 urinary urgency 58 31 frequent (33%) Frequent (79-30%) HP:0000012
10 spastic gait 58 31 frequent (33%) Frequent (79-30%) HP:0002064
11 progressive pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0008075
12 urinary incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0000020
13 peroneal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009049
14 limb dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0002406
15 muscle spasm 31 frequent (33%) HP:0003394
16 clonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002169
17 upper limb spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0006986
18 hyperreflexia 58 31 Very frequent (99-80%) HP:0001347
19 lower limb spasticity 58 31 Very frequent (99-80%) HP:0002061
20 emg abnormality 58 Excluded (0%)
21 pes cavus 31 HP:0001761
22 urinary bladder sphincter dysfunction 31 HP:0002839
23 muscle cramps 58 Frequent (79-30%)
24 spastic paraplegia 31 HP:0001258
25 abnormality of the cerebrospinal fluid 58 Excluded (0%)
26 abnormal lower-limb motor evoked potentials 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Spastic Paraplegia 8, Autosomal Dominant:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.32 ATL1 KIF1A KIF5A PRRC2C REEP1 SLC33A1

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:

40
Spinal Cord, Breast, Eye, Bone, Skin

Publications for Spastic Paraplegia 8, Autosomal Dominant

Articles related to Spastic Paraplegia 8, Autosomal Dominant:

(show all 29)
# Title Authors PMID Year
1
Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene. 61 56 6
23455931 2013
2
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. 61 56 6
17160902 2007
3
Spastic Paraplegia 8 61 6
20301727 2008
4
Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. 61 56
10797436 2000
5
Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. 6
20833645 2010
6
Hereditary Spastic Paraplegia Overview 6
20301682 2000
7
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. 56
9973294 1999
8
Hereditary spastic paraplegia SPG8 mutations impair CAV1-dependent, integrin-mediated cell adhesion. 61
31911435 2020
9
SPG8 mutations in Italian families: clinical data and literature review. 61
31814071 2019
10
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes. 61
30778698 2019
11
Expression of N471D strumpellin leads to defects in the endolysosomal system. 61
30061306 2018
12
A novel KIAA0196 mutation in a Chinese patient with spastic paraplegia 8: A case report. 61
29768361 2018
13
Clinical and genetic study of hereditary spastic paraplegia in Canada. 61
27957547 2017
14
Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8. 61
26967522 2016
15
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8. 61
26572744 2015
16
A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8. 61
25454649 2014
17
[Japan Spastic Paraplegia Research Consortium (JASPAC)]. 61
25296875 2014
18
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. 61
24931836 2014
19
[Hereditary spastic paraplegia: up to date]. 61
25519960 2014
20
A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia. 61
24824269 2014
21
Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. 61
23881105 2013
22
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
23
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
24
[Hereditary spastic paraplegia in Japan]. 61
22277506 2011
25
[Japan spastic paraplegia research consortium (JASPAC)]. 61
21921516 2010
26
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 61
18364116 2008
27
High-resolution aCGH and expression profiling identifies a novel genomic subtype of ER negative breast cancer. 61
17925008 2007
28
Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia. 61
16143870 2005
29
Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity. 61
10563637 1999

Variations for Spastic Paraplegia 8, Autosomal Dominant

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

6 (show all 41) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WASHC5 NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)SNV Pathogenic 1161 rs80338867 8:126069059-126069059 8:125056817-125056817
2 WASHC5 NM_014846.4(WASHC5):c.1857G>C (p.Leu619Phe)SNV Pathogenic 1162 rs80338866 8:126069816-126069816 8:125057574-125057574
3 WASHC5 NM_014846.4(WASHC5):c.1411A>G (p.Asn471Asp)SNV Pathogenic 1163 rs80338865 8:126073434-126073434 8:125061192-125061192
4 WASHC5 NM_014846.4(WASHC5):c.1857G>T (p.Leu619Phe)SNV Pathogenic 39008 rs80338866 8:126069816-126069816 8:125057574-125057574
5 WASHC5 NM_014846.4(WASHC5):c.2087G>C (p.Gly696Ala)SNV Pathogenic 65713 rs397515564 8:126067843-126067843 8:125055601-125055601
6 WASHC5 NM_014846.4(WASHC5):c.704dup (p.Tyr235Ter)duplication Pathogenic 570249 rs1563633906 8:126090986-126090987 8:125078744-125078745
7 WASHC5 NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter)SNV Pathogenic 583269 rs754463353 8:126091009-126091009 8:125078767-125078767
8 WASHC5 NM_014846.4(WASHC5):c.511C>T (p.Arg171Ter)SNV Pathogenic 576266 rs1462319941 8:126093910-126093910 8:125081668-125081668
9 WASHC5 NM_014846.4(WASHC5):c.3020_3021AC[2] (p.Leu1009fs)short repeat Pathogenic 573798 rs765926045 8:126051131-126051132 8:125038889-125038890
10 WASHC5 NM_014846.4(WASHC5):c.526C>T (p.Arg176Ter)SNV Pathogenic 647373 8:126091165-126091165 8:125078923-125078923
11 WASHC5 NM_014846.4(WASHC5):c.1151-2A>GSNV Likely pathogenic 570582 rs1563627853 8:126079963-126079963 8:125067721-125067721
12 WASHC5 NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe)SNV Likely pathogenic 495056 rs1554593899 8:126069901-126069901 8:125057659-125057659
13 WASHC5 NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro)SNV Conflicting interpretations of pathogenicity 463137 rs1554593901 8:126069902-126069902 8:125057660-125057660
14 WASHC5 NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val)SNV Uncertain significance 374553 rs144507279 8:126059531-126059531 8:125047289-125047289
15 WASHC5 NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser)SNV Uncertain significance 410079 rs1060502725 8:126067844-126067844 8:125055602-125055602
16 WASHC5 NM_014846.4(WASHC5):c.2971A>G (p.Ile991Val)SNV Uncertain significance 463139 rs1554591077 8:126051185-126051185 8:125038943-125038943
17 WASHC5 NM_014846.4(WASHC5):c.2090_2092TCA[1] (p.Ile698del)short repeat Uncertain significance 531992 rs1554593551 8:126067835-126067837 8:125055593-125055595
18 WASHC5 NM_014846.4(WASHC5):c.1942G>A (p.Asp648Asn)SNV Uncertain significance 531991 rs758919422 8:126068993-126068993 8:125056751-125056751
19 WASHC5 NM_014846.4(WASHC5):c.166T>C (p.Phe56Leu)SNV Uncertain significance 646014 8:126095975-126095975 8:125083733-125083733
20 WASHC5 NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly)SNV Uncertain significance 573698 rs761801345 8:126071481-126071481 8:125059239-125059239
21 WASHC5 NM_014846.4(WASHC5):c.872G>A (p.Ser291Asn)SNV Uncertain significance 531993 rs753529606 8:126087346-126087346 8:125075104-125075104
22 WASHC5 NM_014846.4(WASHC5):c.2769C>T (p.Val923=)SNV Uncertain significance 581292 rs545318648 8:126056235-126056235 8:125043993-125043993
23 WASHC5 NM_014846.4(WASHC5):c.3047A>G (p.Tyr1016Cys)SNV Uncertain significance 583273 rs767608029 8:126051109-126051109 8:125038867-125038867
24 WASHC5 NM_014846.4(WASHC5):c.413T>G (p.Leu138Arg)SNV Uncertain significance 581704 rs1563636568 8:126094629-126094629 8:125082387-125082387
25 WASHC5 NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp)SNV Uncertain significance 578334 rs397515564 8:126067843-126067843 8:125055601-125055601
26 WASHC5 NM_014846.4(WASHC5):c.2003G>T (p.Gly668Val)SNV Uncertain significance 581894 rs763639768 8:126068932-126068932 8:125056690-125056690
27 WASHC5 NM_014846.4(WASHC5):c.1178G>A (p.Arg393His)SNV Uncertain significance 566111 rs151298198 8:126079934-126079934 8:125067692-125067692
28 NSD1 NM_022455.4(NSD1):c.7976C>T (p.Ala2659Val)SNV Uncertain significance 634621 rs1562312270 5:176722345-176722345 5:177295344-177295344
29 WASHC5 NM_014846.4(WASHC5):c.2327G>A (p.Arg776His)SNV Uncertain significance 634607 rs750463169 8:126061300-126061300 8:125049058-125049058
30 DNM1L NM_012062.5(DNM1L):c.251-1540C>GSNV Uncertain significance 634573 rs762401850 12:32858761-32858761 12:32705827-32705827
31 TBK1 NM_013254.4(TBK1):c.290T>A (p.Val97Asp)SNV Uncertain significance 634601 rs1565813507 12:64858175-64858175 12:64464395-64464395
32 SETBP1 NM_015559.3(SETBP1):c.4771G>A (p.Glu1591Lys)SNV Uncertain significance 634499 rs759235645 18:42643643-42643643 18:45063678-45063678
33 WASHC5 NM_014846.4(WASHC5):c.3269G>A (p.Arg1090Gln)SNV Uncertain significance 659325 8:126044549-126044549 8:125032307-125032307
34 WASHC5 NM_014846.4(WASHC5):c.2158T>G (p.Phe720Val)SNV Uncertain significance 647112 8:126062847-126062847 8:125050605-125050605
35 WASHC5 NM_014846.4(WASHC5):c.1297T>C (p.Ser433Pro)SNV Uncertain significance 655495 8:126075875-126075875 8:125063633-125063633
36 WASHC5 NM_014846.4(WASHC5):c.572G>A (p.Arg191Gln)SNV Uncertain significance 662823 8:126091119-126091119 8:125078877-125078877
37 WASHC5 NM_014846.4(WASHC5):c.1785G>T (p.Leu595=)SNV Likely benign 531994 rs1044612540 8:126069888-126069888 8:125057646-125057646
38 WASHC5 NM_014846.4(WASHC5):c.2016+10C>GSNV Likely benign 463138 rs1260941212 8:126068909-126068909 8:125056667-125056667
39 WASHC5 NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=)SNV Benign 129376 rs11542889 8:126044527-126044527 8:125032285-125032285
40 WASHC5 NM_014846.4(WASHC5):c.597A>G (p.Pro199=)SNV Benign 129377 rs7812319 8:126091094-126091094 8:125078852-125078852
41 WASHC5 NM_014846.4(WASHC5):c.187-3C>TSNV Benign 361735 rs16900368 8:126095503-126095503 8:125083261-125083261

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

73
# 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

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

# Super pathways Score Top Affiliating Genes
1 11.62 ZFYVE27 WASHC5 WASHC4 WASHC3 WASHC1 SPG21

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 10.18 ZFYVE27 ZFYVE26 WASHC5 WASHC1 SPG21 SPG11
2 axon GO:0030424 9.71 ZFYVE27 SPG11 KIF1A ATL1
3 endosome GO:0005768 9.7 ZFYVE27 WASHC5 WASHC4 WASHC3 WASHC1 SPG21
4 early endosome GO:0005769 9.65 WASHC5 WASHC4 WASHC3 WASHC1 NIPA1
5 midbody GO:0030496 9.61 ZFYVE26 SPAST SPART
6 axon cytoplasm GO:1904115 9.5 SPAST KIF5A KIF1A
7 endoplasmic reticulum tubular network GO:0071782 9.13 ZFYVE27 REEP1 ATL1
8 WASH complex GO:0071203 8.92 WASHC5 WASHC4 WASHC3 WASHC1

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

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.65 WASHC5 WASHC4 WASHC3 WASHC1 AP5Z1
2 anterograde axonal transport GO:0008089 9.32 SPAST KIF1A
3 synaptic vesicle transport GO:0048489 9.16 SPG11 KIF5A
4 retrograde neuronal dense core vesicle transport GO:1990049 8.96 KIF5A KIF1A
5 endosomal transport GO:0016197 8.92 WASHC5 WASHC4 WASHC1 AP5Z1

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

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 8.96 KIF5A KIF1A
2 microtubule binding GO:0008017 8.92 SPAST REEP1 KIF5A KIF1A

Sources for Spastic Paraplegia 8, Autosomal Dominant

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
Content
Loading form....