MCID: SPS013
MIFTS: 19

Spastic Paraplegia 8

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

Aliases & Classifications for Spastic Paraplegia 8

MalaCards integrated aliases for Spastic Paraplegia 8:

Name: Spastic Paraplegia 8 23 49 24 28
Spg8 23 49
Spastic Paraplegia 8, Autosomal Dominant 69
Autosomal Dominant Spastic Paraplegia 8 24
Hereditary Spastic Paraplegia 8 24
Spastic Paraplegia Type 8 24
Spg 8 24

Characteristics:

GeneReviews:

23
Penetrance The penetrance for spg8 is estimated between 90% and 100%...

Classifications:



External Ids:

UMLS 69 C1863704

Summaries for Spastic Paraplegia 8

Genetics Home Reference : 24 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 9.9
3 spasticity 9.9

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 28 WASHC5

Anatomical Context for Spastic Paraplegia 8

Publications for Spastic Paraplegia 8

Articles related to Spastic Paraplegia 8:

# Title Authors Year
1
Spastic Paraplegia 8 ( 20301727 )
1993

Variations for Spastic Paraplegia 8

ClinVar genetic disease variations for Spastic Paraplegia 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WASHC5 NM_014846.3(WASHC5): c.1857G> T (p.Leu619Phe) single nucleotide variant Pathogenic rs80338866 GRCh37 Chromosome 8, 126069816: 126069816
2 WASHC5 NM_014846.3(WASHC5): c.2087G> C (p.Gly696Ala) single nucleotide variant Pathogenic rs397515564 GRCh37 Chromosome 8, 126067843: 126067843
3 WASHC5 NM_014846.3(WASHC5): c.1876G> T (p.Val626Phe) single nucleotide variant Pathogenic rs80338867 GRCh37 Chromosome 8, 126069059: 126069059
4 WASHC5 NM_014846.3(WASHC5): c.1857G> C (p.Leu619Phe) single nucleotide variant Pathogenic rs80338866 GRCh37 Chromosome 8, 126069816: 126069816
5 WASHC5 NM_014846.3(WASHC5): c.1411A> G (p.Asn471Asp) single nucleotide variant Pathogenic rs80338865 GRCh37 Chromosome 8, 126073434: 126073434

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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