MCID: SPS021
MIFTS: 26

Spastic Paraplegia 10

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

Aliases & Classifications for Spastic Paraplegia 10

MalaCards integrated aliases for Spastic Paraplegia 10:

Name: Spastic Paraplegia 10 53 29 6
Spastic Paraplegia 10, Autosomal Dominant 73
Autosomal Dominant Spastic Paraplegia 53
Spg10 53

Classifications:



External Ids:

UMLS 73 C1858712

Summaries for Spastic Paraplegia 10

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 100991Disease definitionAutosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spastic Paraplegia 10, also known as spastic paraplegia 10, autosomal dominant, is related to spastic paraplegia 10, autosomal dominant and spastic paraplegia 4, autosomal dominant, and has symptoms including urgency of micturition An important gene associated with Spastic Paraplegia 10 is KIF5A (Kinesin Family Member 5A).

Related Diseases for Spastic Paraplegia 10

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 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 10, autosomal dominant 12.5
2 spastic paraplegia 4, autosomal dominant 11.9
3 spastic paraplegia 8, autosomal dominant 11.9
4 spastic paraplegia 12, autosomal dominant 11.9
5 spastic paraplegia 72, autosomal recessive 11.8
6 spastic paraplegia 9a, autosomal dominant 11.8
7 spastic paraplegia 31, autosomal dominant 11.5
8 spastic paraplegia 3, autosomal dominant 11.5
9 spastic paraplegia 6, autosomal dominant 11.5
10 spastic paraplegia 33, autosomal dominant 11.5
11 spastic paraplegia 42, autosomal dominant 11.5
12 spastic paraplegia 19, autosomal dominant 11.4
13 spastic paraplegia 36, autosomal dominant 11.4
14 spastic paraplegia 41, autosomal dominant 11.4
15 spastic paraplegia 73, autosomal dominant 11.4
16 spastic paraplegia 29, autosomal dominant 11.4
17 spastic paraplegia 17, autosomal dominant 11.3
18 spastic paraplegia 38, autosomal dominant 11.3

Graphical network of the top 20 diseases related to Spastic Paraplegia 10:



Diseases related to Spastic Paraplegia 10

Symptoms & Phenotypes for Spastic Paraplegia 10

UMLS symptoms related to Spastic Paraplegia 10:


urgency of micturition

Drugs & Therapeutics for Spastic Paraplegia 10

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 10

Genetic Tests for Spastic Paraplegia 10

Genetic tests related to Spastic Paraplegia 10:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 10 29 KIF5A

Anatomical Context for Spastic Paraplegia 10

Publications for Spastic Paraplegia 10

Articles related to Spastic Paraplegia 10:

(show all 16)
# Title Authors Year
1
[Two novel mutations in gene SPG4 in patients with autosomal dominant spastic paraplegia]. ( 29368828 )
2016
2
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. ( 25751282 )
2015
3
Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2. ( 26517984 )
2015
4
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey. ( 23400676 )
2013
5
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes. ( 22552817 )
2012
6
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). ( 20461110 )
2010
7
Identification of a new form of autosomal dominant spastic paraplegia. ( 19519683 )
2009
8
Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24. ( 19357379 )
2009
9
A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). ( 19061983 )
2008
10
NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe. ( 17205300 )
2007
11
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. ( 15517445 )
2004
12
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. ( 15596607 )
2004
13
Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. ( 10797436 )
2000
14
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. ( 10699187 )
2000
15
A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia. ( 10493830 )
1999
16
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. ( 10610178 )
1999

Variations for Spastic Paraplegia 10

ClinVar genetic disease variations for Spastic Paraplegia 10:

6
(show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF5A NM_004984.3(KIF5A): c.767A> G (p.Asn256Ser) single nucleotide variant Pathogenic rs121434441 GRCh37 Chromosome 12, 57962798: 57962798
2 KIF5A NM_004984.3(KIF5A): c.767A> G (p.Asn256Ser) single nucleotide variant Pathogenic rs121434441 GRCh38 Chromosome 12, 57569015: 57569015
3 KIF5A NM_004984.3(KIF5A): c.838C> T (p.Arg280Cys) single nucleotide variant Pathogenic rs121434442 GRCh37 Chromosome 12, 57963057: 57963057
4 KIF5A NM_004984.3(KIF5A): c.838C> T (p.Arg280Cys) single nucleotide variant Pathogenic rs121434442 GRCh38 Chromosome 12, 57569274: 57569274
5 KIF5A NM_004984.3(KIF5A): c.827A> G (p.Tyr276Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121434443 GRCh37 Chromosome 12, 57963046: 57963046
6 KIF5A NM_004984.3(KIF5A): c.827A> G (p.Tyr276Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121434443 GRCh38 Chromosome 12, 57569263: 57569263
7 KIF5A NM_004984.3(KIF5A): c.1082C> T (p.Ala361Val) single nucleotide variant Pathogenic rs121434444 GRCh37 Chromosome 12, 57963431: 57963431
8 KIF5A NM_004984.3(KIF5A): c.1082C> T (p.Ala361Val) single nucleotide variant Pathogenic rs121434444 GRCh38 Chromosome 12, 57569648: 57569648
9 KIF5A NM_004984.3(KIF5A): c.751G> A (p.Glu251Lys) single nucleotide variant Pathogenic rs387907285 GRCh37 Chromosome 12, 57962782: 57962782
10 KIF5A NM_004984.3(KIF5A): c.751G> A (p.Glu251Lys) single nucleotide variant Pathogenic rs387907285 GRCh38 Chromosome 12, 57568999: 57568999
11 KIF5A NM_004984.3(KIF5A): c.611G> A (p.Arg204Gln) single nucleotide variant Pathogenic rs387907287 GRCh37 Chromosome 12, 57961298: 57961298
12 KIF5A NM_004984.3(KIF5A): c.611G> A (p.Arg204Gln) single nucleotide variant Pathogenic rs387907287 GRCh38 Chromosome 12, 57567515: 57567515
13 KIF5A NM_004984.3(KIF5A): c.704G> A (p.Gly235Glu) single nucleotide variant Pathogenic rs387907289 GRCh37 Chromosome 12, 57961391: 57961391
14 KIF5A NM_004984.3(KIF5A): c.704G> A (p.Gly235Glu) single nucleotide variant Pathogenic rs387907289 GRCh38 Chromosome 12, 57567608: 57567608
15 KIF5A NM_004984.3(KIF5A): c.694G> A (p.Asp232Asn) single nucleotide variant Pathogenic rs690016545 GRCh37 Chromosome 12, 57961381: 57961381
16 KIF5A NM_004984.3(KIF5A): c.694G> A (p.Asp232Asn) single nucleotide variant Pathogenic rs690016545 GRCh38 Chromosome 12, 57567598: 57567598
17 KIF5A NM_004984.3(KIF5A): c.2769G> A (p.Arg923=) single nucleotide variant Benign/Likely benign rs35225609 GRCh37 Chromosome 12, 57975211: 57975211
18 KIF5A NM_004984.3(KIF5A): c.2769G> A (p.Arg923=) single nucleotide variant Benign/Likely benign rs35225609 GRCh38 Chromosome 12, 57581428: 57581428
19 KIF5A NM_004984.3(KIF5A): c.2957C> T (p.Pro986Leu) single nucleotide variant Benign/Likely benign rs113247976 GRCh38 Chromosome 12, 57581917: 57581917
20 KIF5A NM_004984.3(KIF5A): c.2957C> T (p.Pro986Leu) single nucleotide variant Benign/Likely benign rs113247976 GRCh37 Chromosome 12, 57975700: 57975700
21 KIF5A NM_004984.3(KIF5A): c.2839A> G (p.Thr947Ala) single nucleotide variant Likely benign rs150672943 GRCh37 Chromosome 12, 57975281: 57975281
22 KIF5A NM_004984.3(KIF5A): c.2839A> G (p.Thr947Ala) single nucleotide variant Likely benign rs150672943 GRCh38 Chromosome 12, 57581498: 57581498
23 KIF5A NM_004984.3(KIF5A): c.799T> C (p.Ser267Pro) single nucleotide variant Likely pathogenic rs1131692233 GRCh38 Chromosome 12, 57569047: 57569047
24 KIF5A NM_004984.3(KIF5A): c.799T> C (p.Ser267Pro) single nucleotide variant Likely pathogenic rs1131692233 GRCh37 Chromosome 12, 57962830: 57962830

Expression for Spastic Paraplegia 10

Search GEO for disease gene expression data for Spastic Paraplegia 10.

Pathways for Spastic Paraplegia 10

GO Terms for Spastic Paraplegia 10

Sources for Spastic Paraplegia 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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