SPG8
MCID: SPS149
MIFTS: 46

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
Hereditary Spastic Paraplegia 8 12 29 6 15
Spg8 56 12 58 73
Autosomal Dominant Spastic Paraplegia Type 8 12 58
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 hereditary spastic paraplegia 8, 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 and breast, and related phenotypes are babinski sign and progressive spastic paraplegia

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

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 pure hereditary spastic paraplegia 30.2 SPAST NIPA1 KIF5A ATL1
2 spasticity 29.8 WASHC5 SPG7 SPAST REEP1
3 spastic paraparesis 29.8 SPG7 SPG11 SPAST
4 spastic paraplegia 3, autosomal dominant 29.5 ZFYVE26 WASHC5 SPG11 SPAST REEP1 NIPA1
5 paraplegia 26.5 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
6 hereditary spastic paraplegia 26.2 ZFYVE27 ZFYVE26 WASHC5 WASHC4 SPG7 SPG21
7 spastic paraplegia 31, autosomal dominant 26.1 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
8 spastic paraplegia 4, autosomal dominant 25.9 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
9 spastic paraplegia 6, autosomal dominant 25.7 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
10 spastic paraplegia 8 11.7
11 spinal cord neuroblastoma 10.3 ZFYVE27 REEP1
12 neuropathy, hereditary sensory, type id 10.3 KIF5A ATL1
13 spinal cord primitive neuroectodermal neoplasm 10.3 ZFYVE27 REEP1
14 spastic paraplegia 4 10.2
15 spastic paraplegia 41, autosomal dominant 10.2 SPG21 SPAST
16 spastic paraplegia 64, autosomal recessive 10.2 SPG21 SPG11
17 spastic paraplegia 57, autosomal recessive 10.2 SPG11 REEP1 KIF5A
18 neuropathy, hereditary sensory, type iic 10.2 SPG21 SPG11 REEP1
19 spastic paraplegia 45, autosomal recessive 10.2 SPG21 SPG11
20 charcot-marie-tooth disease, axonal, type 2r 10.2 ZFYVE26 SPG21
21 spastic paraplegia 73, autosomal dominant 10.2 SPG21 REEP1 ATL1
22 spastic paraplegia 49, autosomal recessive 10.2 ZFYVE26 SPG21 SPG11
23 spastic paraplegia 55, autosomal recessive 10.1 ZFYVE26 SPG21 SPG11
24 spastic paraplegia 28, autosomal recessive 10.1 SPG11 REEP1 AP5Z1
25 spastic paraplegia, optic atrophy, and neuropathy 10.1 WASHC5 AP5Z1
26 wiskott-aldrich syndrome 10.1
27 ataxia and polyneuropathy, adult-onset 10.1
28 spastic paraplegia 3a 10.1
29 spastic paraplegia 6 10.1
30 amyotrophic lateral sclerosis type 5 10.1 ZFYVE26 SPG11 AP5Z1
31 spastic paraplegia 27, autosomal recessive 10.1 SPG21 SLC33A1 REEP1
32 axonal neuropathy 10.0 ZFYVE26 SPG11 KIF5A
33 autosomal dominant distal hereditary motor neuronopathy 10.0 REEP1 BSCL2 ATL1
34 charcot-marie-tooth disease, axonal, type 2t 10.0 ZFYVE26 SPG21
35 spastic paraplegia 29, autosomal dominant 10.0 ZFYVE26 WASHC5 SPG21 SLC33A1
36 spastic paraplegia 25, autosomal recessive 10.0 ZFYVE26 WASHC5 SPG21 SLC33A1
37 spastic paraplegia 34, x-linked 10.0 ZFYVE26 WASHC5 SPG21 SLC33A1
38 spastic paraplegia 53, autosomal recessive 9.9 WASHC5 SLC33A1 ATL1 AP5Z1
39 autosomal dominant non-syndromic intellectual disability 9 9.9 ZFYVE26 REEP1 KIF5A AP5Z1
40 hereditary spastic paraplegia 51 9.9 ZFYVE26 SPG21 SPG11 AP5Z1
41 spastic paraplegia 43, autosomal recessive 9.9 WASHC5 SPG11 SPAST SLC33A1 ATL1
42 spastic paraplegia 52, autosomal recessive 9.9 ZFYVE26 SPG21 SPG11 AP5Z1
43 spastic paraplegia 50, autosomal recessive 9.9 ZFYVE26 SPG21 SPG11 AP5Z1
44 spinal muscular atrophy, distal, autosomal recessive, 2 9.9 REEP1 BSCL2
45 neurodegeneration with brain iron accumulation 5 9.9 ZFYVE26 SPG11
46 primary lateral sclerosis, adult, 1 9.9 SPG7 SPAST
47 spastic paraplegia 14, autosomal recessive 9.8 SPG21 SPG11 SPAST SLC33A1 ATL1
48 mast syndrome 9.8 ZFYVE27 SPG21 SPG11 SPART
49 spastic paraplegia 37, autosomal dominant 9.8 ZFYVE26 WASHC5 SPG21 SLC33A1 REEP1
50 complex hereditary spastic paraplegia 9.8 SPG7 SPG11 NIPA1

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 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
2 progressive spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007020
3 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
4 degeneration of the lateral corticospinal tracts 58 31 hallmark (90%) Very frequent (99-80%) HP:0002314
5 muscle spasm 58 31 frequent (33%) Frequent (79-30%) HP:0003394
6 urinary incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0000020
7 spastic gait 58 31 frequent (33%) Frequent (79-30%) HP:0002064
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 limb ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002070
11 lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0007340
12 impaired vibration sensation in the lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0002166
13 limb dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0002406
14 peroneal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009049
15 progressive pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0008075
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 spastic paraplegia 31 HP:0001258
23 urinary bladder sphincter dysfunction 31 HP:0002839
24 abnormality of the cerebrospinal fluid 58 Excluded (0%)
25 abnormal lower-limb motor evoked potentials 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
spastic gait
degeneration of the lateral corticospinal tracts
extensor plantar responses
more
Genitourinary Bladder:
urinary incontinence
urinary urgency
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 9.36 ATL1 BSCL2 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

Genetic tests related to Spastic Paraplegia 8, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Hereditary Spastic Paraplegia 8 29 WASHC5

Anatomical Context for Spastic Paraplegia 8, Autosomal Dominant

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

40
Spinal Cord, Breast

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. 56 6 61
23455931 2013
2
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. 56 6 61
17160902 2007
3
Spastic Paraplegia 8 6 61
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
SPG8 mutations in Italian families: clinical data and literature review. 61
31814071 2020
9
Hereditary spastic paraplegia SPG8 mutations impair CAV1-dependent, integrin-mediated cell adhesion. 61
31911435 2020
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 top 50) (show all 133) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WASHC5 NM_014846.4(WASHC5):c.511C>T (p.Arg171Ter)SNV Pathogenic 576266 rs1462319941 8:126093910-126093910 8:125081668-125081668
2 WASHC5 NM_014846.4(WASHC5):c.3020_3021AC[2] (p.Leu1009fs)short repeat Pathogenic 573798 rs765926045 8:126051131-126051132 8:125038889-125038890
3 WASHC5 NM_014846.4(WASHC5):c.704dup (p.Tyr235Ter)duplication Pathogenic 570249 rs1563633906 8:126090986-126090987 8:125078744-125078745
4 WASHC5 NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter)SNV Pathogenic 583269 rs754463353 8:126091009-126091009 8:125078767-125078767
5 WASHC5 NM_014846.4(WASHC5):c.526C>T (p.Arg176Ter)SNV Pathogenic 647373 8:126091165-126091165 8:125078923-125078923
6 WASHC5 NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)SNV Pathogenic 1161 rs80338867 8:126069059-126069059 8:125056817-125056817
7 WASHC5 NM_014846.4(WASHC5):c.1857G>C (p.Leu619Phe)SNV Pathogenic 1162 rs80338866 8:126069816-126069816 8:125057574-125057574
8 WASHC5 NM_014846.4(WASHC5):c.1411A>G (p.Asn471Asp)SNV Pathogenic 1163 rs80338865 8:126073434-126073434 8:125061192-125061192
9 WASHC5 NM_014846.4(WASHC5):c.1857G>T (p.Leu619Phe)SNV Pathogenic 39008 rs80338866 8:126069816-126069816 8:125057574-125057574
10 WASHC5 NM_014846.4(WASHC5):c.2087G>C (p.Gly696Ala)SNV Pathogenic 65713 rs397515564 8:126067843-126067843 8:125055601-125055601
11 WASHC5 NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro)SNV Pathogenic/Likely pathogenic 463137 rs1554593901 8:126069902-126069902 8:125057660-125057660
12 WASHC5 NM_014846.4(WASHC5):c.1151-2A>GSNV Likely pathogenic 570582 rs1563627853 8:126079963-126079963 8:125067721-125067721
13 WASHC5 NM_014846.4(WASHC5):c.1866T>C (p.Tyr622=)SNV Conflicting interpretations of pathogenicity 700189 8:126069807-126069807 8:125057565-125057565
14 WASHC5 NM_014846.4(WASHC5):c.2332A>G (p.Ile778Val)SNV Conflicting interpretations of pathogenicity 834556 8:126061295-126061295 8:125049053-125049053
15 WASHC5 NM_014846.4(WASHC5):c.3210G>A (p.Pro1070=)SNV Conflicting interpretations of pathogenicity 463140 rs200733182 8:126044608-126044608 8:125032366-125032366
16 WASHC5 NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu)SNV Conflicting interpretations of pathogenicity 431857 rs72720524 8:126091044-126091044 8:125078802-125078802
17 WASHC5 NM_014846.4(WASHC5):c.885G>A (p.Gly295=)SNV Conflicting interpretations of pathogenicity 463141 rs1435894101 8:126087333-126087333 8:125075091-125075091
18 WASHC5 NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe)SNV Conflicting interpretations of pathogenicity 495056 rs1554593899 8:126069901-126069901 8:125057659-125057659
19 WASHC5 NM_014846.4(WASHC5):c.2076G>A (p.Thr692=)SNV Conflicting interpretations of pathogenicity 695725 8:126067854-126067854 8:125055612-125055612
20 WASHC5 NM_014846.4(WASHC5):c.1178G>A (p.Arg393His)SNV Conflicting interpretations of pathogenicity 566111 rs151298198 8:126079934-126079934 8:125067692-125067692
21 WASHC5 NM_014846.4(WASHC5):c.639G>C (p.Gln213His)SNV Conflicting interpretations of pathogenicity 218710 rs141234822 8:126091052-126091052 8:125078810-125078810
22 WASHC5 NM_014846.4(WASHC5):c.2052T>G (p.Thr684=)SNV Conflicting interpretations of pathogenicity 361719 rs886062652 8:126067878-126067878 8:125055636-125055636
23 WASHC5 NM_014846.4(WASHC5):c.3200C>T (p.Pro1067Leu)SNV Uncertain significance 361713 rs149383757 8:126044618-126044618 8:125032376-125032376
24 WASHC5 NM_014846.4(WASHC5):c.1340C>T (p.Ser447Leu)SNV Uncertain significance 361724 rs886062654 8:126075832-126075832 8:125063590-125063590
25 WASHC5 NM_014846.4(WASHC5):c.-167C>TSNV Uncertain significance 361739 rs886062657 8:126103899-126103899 8:125091657-125091657
26 WASHC5 NM_014846.4(WASHC5):c.1669G>A (p.Ala557Thr)SNV Uncertain significance 191232 rs749056160 8:126071637-126071637 8:125059395-125059395
27 WASHC5 NM_014846.4(WASHC5):c.*124A>CSNV Uncertain significance 361707 rs886062650 8:126036735-126036735 8:125024493-125024493
28 WASHC5 NM_014846.4(WASHC5):c.2850+4T>CSNV Uncertain significance 361715 rs770743674 8:126056063-126056063 8:125043821-125043821
29 WASHC5 NM_014846.4(WASHC5):c.657A>G (p.Glu219=)SNV Uncertain significance 361730 rs886062655 8:126091034-126091034 8:125078792-125078792
30 WASHC5 NM_014846.4(WASHC5):c.2954+13G>TSNV Uncertain significance 361714 rs886062651 8:126052024-126052024 8:125039782-125039782
31 WASHC5 NM_014846.4(WASHC5):c.-20A>GSNV Uncertain significance 361736 rs762683769 8:126096160-126096160 8:125083918-125083918
32 WASHC5 NM_014846.4(WASHC5):c.-219G>CSNV Uncertain significance 361741 rs886062658 8:126103951-126103951 8:125091709-125091709
33 WASHC5 NM_014846.4(WASHC5):c.3438T>C (p.His1146=)SNV Uncertain significance 361710 rs764539889 8:126036901-126036901 8:125024659-125024659
34 WASHC5 NM_014846.4(WASHC5):c.1345C>A (p.Arg449=)SNV Uncertain significance 361723 rs886062653 8:126075827-126075827 8:125063585-125063585
35 WASHC5 NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val)SNV Uncertain significance 374553 rs144507279 8:126059531-126059531 8:125047289-125047289
36 NSD1 NM_022455.4(NSD1):c.7976C>T (p.Ala2659Val)SNV Uncertain significance 634621 rs1562312270 5:176722345-176722345 5:177295344-177295344
37 WASHC5 NM_014846.4(WASHC5):c.2327G>A (p.Arg776His)SNV Uncertain significance 634607 rs750463169 8:126061300-126061300 8:125049058-125049058
38 DNM1L NM_012062.5(DNM1L):c.251-1540C>GSNV Uncertain significance 634573 rs762401850 12:32858761-32858761 12:32705827-32705827
39 TBK1 NM_013254.4(TBK1):c.290T>A (p.Val97Asp)SNV Uncertain significance 634601 rs1565813507 12:64858175-64858175 12:64464395-64464395
40 SETBP1 NM_015559.3(SETBP1):c.4771G>A (p.Glu1591Lys)SNV Uncertain significance 634499 rs759235645 18:42643643-42643643 18:45063678-45063678
41 WASHC5 NM_014846.4(WASHC5):c.3269G>A (p.Arg1090Gln)SNV Uncertain significance 659325 8:126044549-126044549 8:125032307-125032307
42 WASHC5 NM_014846.4(WASHC5):c.2158T>G (p.Phe720Val)SNV Uncertain significance 647112 8:126062847-126062847 8:125050605-125050605
43 WASHC5 NM_014846.4(WASHC5):c.1297T>C (p.Ser433Pro)SNV Uncertain significance 655495 8:126075875-126075875 8:125063633-125063633
44 WASHC5 NM_014846.4(WASHC5):c.572G>A (p.Arg191Gln)SNV Uncertain significance 662823 8:126091119-126091119 8:125078877-125078877
45 WASHC5 NM_014846.4(WASHC5):c.166T>C (p.Phe56Leu)SNV Uncertain significance 646014 8:126095975-126095975 8:125083733-125083733
46 WASHC5 NM_014846.4(WASHC5):c.413T>G (p.Leu138Arg)SNV Uncertain significance 581704 rs1563636568 8:126094629-126094629 8:125082387-125082387
47 WASHC5 NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp)SNV Uncertain significance 578334 rs397515564 8:126067843-126067843 8:125055601-125055601
48 WASHC5 NM_014846.4(WASHC5):c.2003G>T (p.Gly668Val)SNV Uncertain significance 581894 rs763639768 8:126068932-126068932 8:125056690-125056690
49 WASHC5 NM_014846.4(WASHC5):c.2090_2092TCA[1] (p.Ile698del)short repeat Uncertain significance 531992 rs1554593551 8:126067835-126067837 8:125055593-125055595
50 WASHC5 NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly)SNV Uncertain significance 573698 rs761801345 8:126071481-126071481 8:125059239-125059239

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 endoplasmic reticulum GO:0005783 9.98 ZFYVE27 WASHC5 SPAST SLC33A1 REEP1 BSCL2
2 endoplasmic reticulum membrane GO:0005789 9.88 ZFYVE27 SPAST SLC33A1 REEP1 BSCL2 ATL1
3 early endosome GO:0005769 9.65 WASHC5 WASHC4 WASHC3 WASHC1 NIPA1
4 midbody GO:0030496 9.63 ZFYVE26 SPAST SPART
5 endosome GO:0005768 9.56 ZFYVE27 WASHC5 WASHC4 WASHC3 WASHC1 SPG21
6 lipid droplet GO:0005811 9.54 SPAST SPART BSCL2
7 axon cytoplasm GO:1904115 9.5 SPG7 SPAST KIF5A
8 endoplasmic reticulum tubular network GO:0071782 9.33 ZFYVE27 REEP1 ATL1
9 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 9.55 WASHC5 WASHC4 WASHC3 WASHC1 AP5Z1
2 anterograde axonal transport GO:0008089 9.32 SPG7 SPAST
3 lipid droplet organization GO:0034389 9.26 SPART BSCL2
4 synaptic vesicle transport GO:0048489 8.96 SPG11 KIF5A
5 endosomal transport GO:0016197 8.92 WASHC5 WASHC4 WASHC1 AP5Z1

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
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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