MCID: SPS013
MIFTS: 20

Spastic Paraplegia 8

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic diseases

Aliases & Classifications for Spastic Paraplegia 8

MalaCards integrated aliases for Spastic Paraplegia 8:

Name: Spastic Paraplegia 8 24 53 25 29 6
Spg8 24 53
Spastic Paraplegia 8, Autosomal Dominant 73
Autosomal Dominant Spastic Paraplegia 8 25
Hereditary Spastic Paraplegia 8 25
Spastic Paraplegia Type 8 25
Spg 8 25

Characteristics:

GeneReviews:

24
Penetrance The penetrance for spg8 is estimated between 90% and 100%...

Classifications:



External Ids:

UMLS 73 C1863704

Summaries for Spastic Paraplegia 8

Genetics Home Reference : 25 Spastic paraplegia type 8 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve only the nerves and muscles controlling the lower limbs and bladder, whereas the complex types also have significant involvement of the nervous system in other parts of the body. Spastic paraplegia type 8 is a pure hereditary spastic paraplegia.

MalaCards based summary : Spastic Paraplegia 8, also known as spg8, is related to spastic paraplegia 8, autosomal dominant and paraplegia, and has symptoms including urgency of micturition An important gene associated with Spastic Paraplegia 8 is WASHC5 (WASH Complex Subunit 5).

GeneReviews: NBK1827

Related Diseases for Spastic Paraplegia 8

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 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 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

Diseases related to Spastic Paraplegia 8 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 8, autosomal dominant 12.4
2 paraplegia 10.0
3 spasticity 10.0

Symptoms & Phenotypes for Spastic Paraplegia 8

UMLS symptoms related to Spastic Paraplegia 8:


urgency of micturition

Drugs & Therapeutics for Spastic Paraplegia 8

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 8

Genetic Tests for Spastic Paraplegia 8

Genetic tests related to Spastic Paraplegia 8:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 8 29 WASHC5

Anatomical Context for Spastic Paraplegia 8

Publications for Spastic Paraplegia 8

Articles related to Spastic Paraplegia 8:

# Title Authors Year
1
A novel KIAA0196 mutation in a Chinese patient with spastic paraplegia 8: A case report. ( 29768361 )
2018
2
Spastic Paraplegia 8 ( 20301727 )
1993

Variations for Spastic Paraplegia 8

ClinVar genetic disease variations for Spastic Paraplegia 8:

6
(show all 50)
# Gene Variation Type Significance SNP ID Assembly Location
1 WASHC5 NM_014846.3(WASHC5): c.1876G> T (p.Val626Phe) single nucleotide variant Pathogenic rs80338867 GRCh37 Chromosome 8, 126069059: 126069059
2 WASHC5 NM_014846.3(WASHC5): c.1876G> T (p.Val626Phe) single nucleotide variant Pathogenic rs80338867 GRCh38 Chromosome 8, 125056817: 125056817
3 WASHC5 NM_014846.3(WASHC5): c.1857G> C (p.Leu619Phe) single nucleotide variant Pathogenic rs80338866 GRCh37 Chromosome 8, 126069816: 126069816
4 WASHC5 NM_014846.3(WASHC5): c.1857G> C (p.Leu619Phe) single nucleotide variant Pathogenic rs80338866 GRCh38 Chromosome 8, 125057574: 125057574
5 WASHC5 NM_014846.3(WASHC5): c.1411A> G (p.Asn471Asp) single nucleotide variant Pathogenic rs80338865 GRCh37 Chromosome 8, 126073434: 126073434
6 WASHC5 NM_014846.3(WASHC5): c.1411A> G (p.Asn471Asp) single nucleotide variant Pathogenic rs80338865 GRCh38 Chromosome 8, 125061192: 125061192
7 WASHC5 NM_014846.3(WASHC5): c.1857G> T (p.Leu619Phe) single nucleotide variant Pathogenic rs80338866 GRCh37 Chromosome 8, 126069816: 126069816
8 WASHC5 NM_014846.3(WASHC5): c.1857G> T (p.Leu619Phe) single nucleotide variant Pathogenic rs80338866 GRCh38 Chromosome 8, 125057574: 125057574
9 WASHC5 NM_014846.3(WASHC5): c.2087G> C (p.Gly696Ala) single nucleotide variant Pathogenic rs397515564 GRCh37 Chromosome 8, 126067843: 126067843
10 WASHC5 NM_014846.3(WASHC5): c.2087G> C (p.Gly696Ala) single nucleotide variant Pathogenic rs397515564 GRCh38 Chromosome 8, 125055601: 125055601
11 WASHC5 NM_014846.3(WASHC5): c.3319G> A (p.Val1107Met) single nucleotide variant Benign/Likely benign rs138407503 GRCh37 Chromosome 8, 126044499: 126044499
12 WASHC5 NM_014846.3(WASHC5): c.3319G> A (p.Val1107Met) single nucleotide variant Benign/Likely benign rs138407503 GRCh38 Chromosome 8, 125032257: 125032257
13 WASHC5 NM_014846.3(WASHC5): c.867A> C (p.Val289=) single nucleotide variant Benign rs79464415 GRCh38 Chromosome 8, 125075109: 125075109
14 WASHC5 NM_014846.3(WASHC5): c.867A> C (p.Val289=) single nucleotide variant Benign rs79464415 GRCh37 Chromosome 8, 126087351: 126087351
15 WASHC5 NM_014846.3(WASHC5): c.1408+7A> G single nucleotide variant Benign/Likely benign rs16900312 GRCh37 Chromosome 8, 126075757: 126075757
16 WASHC5 NM_014846.3(WASHC5): c.1408+7A> G single nucleotide variant Benign/Likely benign rs16900312 GRCh38 Chromosome 8, 125063515: 125063515
17 WASHC5 NM_014846.3(WASHC5): c.1245A> G (p.Leu415=) single nucleotide variant Benign/Likely benign rs10429323 GRCh37 Chromosome 8, 126079867: 126079867
18 WASHC5 NM_014846.3(WASHC5): c.1245A> G (p.Leu415=) single nucleotide variant Benign/Likely benign rs10429323 GRCh38 Chromosome 8, 125067625: 125067625
19 WASHC5 NM_014846.3(WASHC5): c.3225A> G (p.Pro1075=) single nucleotide variant Benign/Likely benign rs34569226 GRCh37 Chromosome 8, 126044593: 126044593
20 WASHC5 NM_014846.3(WASHC5): c.3225A> G (p.Pro1075=) single nucleotide variant Benign/Likely benign rs34569226 GRCh38 Chromosome 8, 125032351: 125032351
21 WASHC5 NM_014846.3(WASHC5): c.1151-8G> A single nucleotide variant Benign/Likely benign rs16900335 GRCh37 Chromosome 8, 126079969: 126079969
22 WASHC5 NM_014846.3(WASHC5): c.1151-8G> A single nucleotide variant Benign/Likely benign rs16900335 GRCh38 Chromosome 8, 125067727: 125067727
23 WASHC5 NM_014846.3(WASHC5): c.187-3C> T single nucleotide variant Benign rs16900368 GRCh38 Chromosome 8, 125083261: 125083261
24 WASHC5 NM_014846.3(WASHC5): c.187-3C> T single nucleotide variant Benign rs16900368 GRCh37 Chromosome 8, 126095503: 126095503
25 WASHC5 NM_014846.3(WASHC5): c.2422A> G (p.Ile808Val) single nucleotide variant Uncertain significance rs144507279 GRCh37 Chromosome 8, 126059531: 126059531
26 WASHC5 NM_014846.3(WASHC5): c.2422A> G (p.Ile808Val) single nucleotide variant Uncertain significance rs144507279 GRCh38 Chromosome 8, 125047289: 125047289
27 WASHC5 NM_014846.3(WASHC5): c.647C> T (p.Pro216Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72720524 GRCh37 Chromosome 8, 126091044: 126091044
28 WASHC5 NM_014846.3(WASHC5): c.647C> T (p.Pro216Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72720524 GRCh38 Chromosome 8, 125078802: 125078802
29 WASHC5 NM_014846.3(WASHC5): c.2971A> G (p.Ile991Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 125038943: 125038943
30 WASHC5 NM_014846.3(WASHC5): c.2971A> G (p.Ile991Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 126051185: 126051185
31 WASHC5 NM_014846.3(WASHC5): c.3210G> A (p.Pro1070=) single nucleotide variant Likely benign rs200733182 GRCh38 Chromosome 8, 125032366: 125032366
32 WASHC5 NM_014846.3(WASHC5): c.3210G> A (p.Pro1070=) single nucleotide variant Likely benign rs200733182 GRCh37 Chromosome 8, 126044608: 126044608
33 WASHC5 NM_014846.3(WASHC5): c.1771T> C (p.Ser591Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 126069902: 126069902
34 WASHC5 NM_014846.3(WASHC5): c.1771T> C (p.Ser591Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 125057660: 125057660
35 WASHC5 NM_014846.3(WASHC5): c.1668C> T (p.Phe556=) single nucleotide variant Likely benign rs199725572 GRCh37 Chromosome 8, 126071638: 126071638
36 WASHC5 NM_014846.3(WASHC5): c.1668C> T (p.Phe556=) single nucleotide variant Likely benign rs199725572 GRCh38 Chromosome 8, 125059396: 125059396
37 WASHC5 NM_014846.3(WASHC5): c.2016+10C> G single nucleotide variant Likely benign GRCh37 Chromosome 8, 126068909: 126068909
38 WASHC5 NM_014846.3(WASHC5): c.2016+10C> G single nucleotide variant Likely benign GRCh38 Chromosome 8, 125056667: 125056667
39 WASHC5 NM_014846.3(WASHC5): c.885G> A (p.Gly295=) single nucleotide variant Likely benign GRCh38 Chromosome 8, 125075091: 125075091
40 WASHC5 NM_014846.3(WASHC5): c.885G> A (p.Gly295=) single nucleotide variant Likely benign GRCh37 Chromosome 8, 126087333: 126087333
41 WASHC5 NM_014846.3(WASHC5): c.1772C> T (p.Ser591Phe) single nucleotide variant Likely pathogenic GRCh38 Chromosome 8, 125057659: 125057659
42 WASHC5 NM_014846.3(WASHC5): c.1772C> T (p.Ser591Phe) single nucleotide variant Likely pathogenic GRCh37 Chromosome 8, 126069901: 126069901
43 WASHC5 NM_014846.3(WASHC5): c.2093_2095delTCA (p.Ile698del) deletion Uncertain significance GRCh38 Chromosome 8, 125055593: 125055595
44 WASHC5 NM_014846.3(WASHC5): c.2093_2095delTCA (p.Ile698del) deletion Uncertain significance GRCh37 Chromosome 8, 126067835: 126067837
45 WASHC5 NM_014846.3(WASHC5): c.1942G> A (p.Asp648Asn) single nucleotide variant Uncertain significance rs758919422 GRCh38 Chromosome 8, 125056751: 125056751
46 WASHC5 NM_014846.3(WASHC5): c.1942G> A (p.Asp648Asn) single nucleotide variant Uncertain significance rs758919422 GRCh37 Chromosome 8, 126068993: 126068993
47 WASHC5 NM_014846.3(WASHC5): c.1785G> T (p.Leu595=) single nucleotide variant Likely benign rs1044612540 GRCh38 Chromosome 8, 125057646: 125057646
48 WASHC5 NM_014846.3(WASHC5): c.1785G> T (p.Leu595=) single nucleotide variant Likely benign rs1044612540 GRCh37 Chromosome 8, 126069888: 126069888
49 WASHC5 NM_014846.3(WASHC5): c.872G> A (p.Ser291Asn) single nucleotide variant Uncertain significance rs753529606 GRCh38 Chromosome 8, 125075104: 125075104
50 WASHC5 NM_014846.3(WASHC5): c.872G> A (p.Ser291Asn) single nucleotide variant Uncertain significance rs753529606 GRCh37 Chromosome 8, 126087346: 126087346

Expression for Spastic Paraplegia 8

Search GEO for disease gene expression data for Spastic Paraplegia 8.

Pathways for Spastic Paraplegia 8

GO Terms for Spastic Paraplegia 8

Sources for Spastic Paraplegia 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....