Spastic Paraplegia 8 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SPS013 MIFTS: 20	Spastic Paraplegia 8 Categories: Rare diseases, Genetic diseases, Neuronal diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic diseases
Genes Variations Related diseases Publications Symptoms & Phenotypes Download Expand all tables

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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:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Gastrointestinal diseases Bone diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷³ C1863704

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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

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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
1	spastic paraplegia 8, autosomal dominant	12.4
2	paraplegia	10.0
3	spasticity	10.0

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Symptoms & Phenotypes for Spastic Paraplegia 8

UMLS symptoms related to Spastic Paraplegia 8:

urgency of micturition

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Drugs & Therapeutics for Spastic Paraplegia 8

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 8

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Genetic Tests for Spastic Paraplegia 8

Genetic tests related to Spastic Paraplegia 8:

#	Genetic test	Affiliating Genes
1	Spastic Paraplegia 8 ²⁹	WASHC5

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Anatomical Context for Spastic Paraplegia 8

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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 )	Ma L....Zhang J.	2018
2	Spastic Paraplegia 8 ( 20301727 )	Pagon R.A....Stephens K.	1993

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Genes for Spastic Paraplegia 8

Genes related to Spastic Paraplegia 8 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	WASHC5	WASH Complex Subunit 5	Protein Coding	538.46	Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Gene name Variants (show sections)

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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

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Expression for Spastic Paraplegia 8

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

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Pathways for Spastic Paraplegia 8

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GO Terms for Spastic Paraplegia 8

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Sources for Spastic Paraplegia 8

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