MCID: SPS021
MIFTS: 30

Spastic Paraplegia 10

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

Aliases & Classifications for Spastic Paraplegia 10

MalaCards integrated aliases for Spastic Paraplegia 10:

Name: Spastic Paraplegia 10 54 30 6
Spastic Paraplegia 10, Autosomal Dominant 74
Spastic Paraplegia, Autosomal Dominant 6
Autosomal Dominant Spastic Paraplegia 54
Spg10 54

Classifications:



External Ids:

UMLS 74 C1858712

Summaries for Spastic Paraplegia 10

NIH Rare Diseases : 54 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 12, autosomal dominant and spastic paraplegia 6, autosomal dominant, and has symptoms including urgency of micturition An important gene associated with Spastic Paraplegia 10 is KIF5A (Kinesin Family Member 5A). Affiliated tissues include skin, bone and eye.

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, 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 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 Spastic Paraplegia 80, Autosomal Dominant
Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia 23
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 47
Spastic Paraplegia 51 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 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 12, autosomal dominant 33.0 KIF5A SPAST
2 spastic paraplegia 6, autosomal dominant 32.9 KIF5A SPAST
3 paraplegia 30.7 KIF5A SPAST
4 hereditary spastic paraplegia 30.2 KIF5A SPAST
5 spastic paraplegia 10, autosomal dominant 12.7
6 spastic paraplegia 4, autosomal dominant 12.3
7 autosomal dominant spastic paraplegia type 9b 12.3
8 spastic paraplegia 8, autosomal dominant 12.3
9 spastic paraplegia 72, autosomal recessive 12.1
10 spastic paraplegia 42, autosomal dominant 12.0
11 spastic paraplegia 3, autosomal dominant 12.0
12 spastic paraplegia 73, autosomal dominant 12.0
13 spastic paraplegia 9a, autosomal dominant 12.0
14 spastic paraplegia 80, autosomal dominant 11.8
15 spastic paraplegia 31, autosomal dominant 11.7
16 spastic paraplegia 33, autosomal dominant 11.7
17 spastic paraplegia 36, autosomal dominant 11.7
18 spastic paraplegia 4 11.6
19 spastic paraplegia 13, autosomal dominant 11.6
20 spastic paraplegia 38, autosomal dominant 11.6
21 spastic paraplegia 8 11.6
22 spastic paraplegia 17, autosomal dominant 11.6
23 spastic paraplegia 19, autosomal dominant 11.6
24 spastic paraplegia 29, autosomal dominant 11.6
25 spastic paraplegia 37, autosomal dominant 11.6
26 spastic paraplegia 41, autosomal dominant 11.6
27 spastic paraplegia 31 11.4
28 hereditary spastic paraplegia 51 11.3
29 spastic paraplegia 17 11.3
30 optic atrophy 3, autosomal dominant 11.3
31 spastic paraplegia 6 11.3
32 peripheral nervous system disease 10.1
33 neuropathy 10.1
34 spastic paraplegia 3a 10.1
35 spastic paraplegia 3 10.1
36 aceruloplasminemia 10.1
37 autosomal dominant cerebellar ataxia 10.1
38 amyotrophic lateral sclerosis 1 10.0
39 intermittent claudication 10.0
40 lateral sclerosis 10.0
41 dysautonomia 10.0
42 perrault syndrome 1 8.7 SPG19 SPG29 SPG36 SPG37 SPG38 SPG41

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 30 KIF5A

Anatomical Context for Spastic Paraplegia 10

MalaCards organs/tissues related to Spastic Paraplegia 10:

42
Skin, Bone, Eye

Publications for Spastic Paraplegia 10

Articles related to Spastic Paraplegia 10:

# Title Authors Year
1
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. ( 25008398 )
2014
2
Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2. ( 21623771 )
2012
3
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. ( 18853458 )
2009
4
Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant. ( 19694022 )
2009
5
Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant. ( 19694023 )
2009
6
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity. ( 18203753 )
2008
7
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia. ( 16476820 )
2006
8
Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia. ( 16489470 )
2006
9
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. ( 15452312 )
2004
10
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). ( 12355402 )
2002

Variations for Spastic Paraplegia 10

ClinVar genetic disease variations for Spastic Paraplegia 10:

6 (show top 50) (show all 953)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZFYVE27 NM_001002261.3(ZFYVE27): c.572G> T (p.Gly191Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35077384 GRCh37 Chromosome 10, 99509251: 99509251
2 ZFYVE27 NM_001002261.3(ZFYVE27): c.572G> T (p.Gly191Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35077384 GRCh38 Chromosome 10, 97749494: 97749494
3 SPAST NM_014946.3(SPAST): c.131C> T (p.Ser44Leu) single nucleotide variant risk factor rs121908515 GRCh37 Chromosome 2, 32289031: 32289031
4 SPAST NM_014946.3(SPAST): c.131C> T (p.Ser44Leu) single nucleotide variant risk factor rs121908515 GRCh38 Chromosome 2, 32063962: 32063962
5 KIF5A NM_004984.3(KIF5A): c.767A> G (p.Asn256Ser) single nucleotide variant Pathogenic rs121434441 GRCh37 Chromosome 12, 57962798: 57962798
6 KIF5A NM_004984.3(KIF5A): c.767A> G (p.Asn256Ser) single nucleotide variant Pathogenic rs121434441 GRCh38 Chromosome 12, 57569015: 57569015
7 KIF5A NM_004984.3(KIF5A): c.838C> T (p.Arg280Cys) single nucleotide variant Pathogenic rs121434442 GRCh37 Chromosome 12, 57963057: 57963057
8 KIF5A NM_004984.3(KIF5A): c.838C> T (p.Arg280Cys) single nucleotide variant Pathogenic rs121434442 GRCh38 Chromosome 12, 57569274: 57569274
9 KIF5A NM_004984.3(KIF5A): c.827A> G (p.Tyr276Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121434443 GRCh37 Chromosome 12, 57963046: 57963046
10 KIF5A NM_004984.3(KIF5A): c.827A> G (p.Tyr276Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121434443 GRCh38 Chromosome 12, 57569263: 57569263
11 KIF5A NM_004984.3(KIF5A): c.1082C> T (p.Ala361Val) single nucleotide variant Pathogenic rs121434444 GRCh37 Chromosome 12, 57963431: 57963431
12 KIF5A NM_004984.3(KIF5A): c.1082C> T (p.Ala361Val) single nucleotide variant Pathogenic rs121434444 GRCh38 Chromosome 12, 57569648: 57569648
13 ATL1 NM_015915.4(ATL1): c.351G> A (p.Glu117=) single nucleotide variant Benign rs1060197 GRCh37 Chromosome 14, 51057727: 51057727
14 ATL1 NM_015915.4(ATL1): c.351G> A (p.Glu117=) single nucleotide variant Benign rs1060197 GRCh38 Chromosome 14, 50591009: 50591009
15 ATL1 NM_015915.4(ATL1): c.621G> A (p.Lys207=) single nucleotide variant Benign/Likely benign rs35629585 GRCh37 Chromosome 14, 51062341: 51062341
16 ATL1 NM_015915.4(ATL1): c.621G> A (p.Lys207=) single nucleotide variant Benign/Likely benign rs35629585 GRCh38 Chromosome 14, 50595623: 50595623
17 ATL1 NM_015915.4(ATL1): c.84A> G (p.Pro28=) single nucleotide variant Benign rs35014209 GRCh37 Chromosome 14, 51054598: 51054598
18 ATL1 NM_015915.4(ATL1): c.84A> G (p.Pro28=) single nucleotide variant Benign rs35014209 GRCh38 Chromosome 14, 50587880: 50587880
19 KIF5A NM_004984.2(KIF5A): c.751G> A (p.Glu251Lys) single nucleotide variant Pathogenic rs387907285 GRCh37 Chromosome 12, 57962782: 57962782
20 KIF5A NM_004984.2(KIF5A): c.751G> A (p.Glu251Lys) single nucleotide variant Pathogenic rs387907285 GRCh38 Chromosome 12, 57568999: 57568999
21 KIF5A NM_004984.2(KIF5A): c.2263G> A (p.Glu755Lys) single nucleotide variant Uncertain significance rs387907286 GRCh37 Chromosome 12, 57970608: 57970608
22 KIF5A NM_004984.2(KIF5A): c.2263G> A (p.Glu755Lys) single nucleotide variant Uncertain significance rs387907286 GRCh38 Chromosome 12, 57576825: 57576825
23 KIF5A NM_004984.3(KIF5A): c.611G> A (p.Arg204Gln) single nucleotide variant Pathogenic rs387907287 GRCh37 Chromosome 12, 57961298: 57961298
24 KIF5A NM_004984.3(KIF5A): c.611G> A (p.Arg204Gln) single nucleotide variant Pathogenic rs387907287 GRCh38 Chromosome 12, 57567515: 57567515
25 KIF5A NM_004984.3(KIF5A): c.839G> A (p.Arg280His) single nucleotide variant Conflicting interpretations of pathogenicity rs387907288 GRCh37 Chromosome 12, 57963058: 57963058
26 KIF5A NM_004984.3(KIF5A): c.839G> A (p.Arg280His) single nucleotide variant Conflicting interpretations of pathogenicity rs387907288 GRCh38 Chromosome 12, 57569275: 57569275
27 KIF5A NM_004984.3(KIF5A): c.704G> A (p.Gly235Glu) single nucleotide variant Pathogenic rs387907289 GRCh37 Chromosome 12, 57961391: 57961391
28 KIF5A NM_004984.3(KIF5A): c.704G> A (p.Gly235Glu) single nucleotide variant Pathogenic rs387907289 GRCh38 Chromosome 12, 57567608: 57567608
29 KIF5A NM_004984.2(KIF5A): c.2272G> A (p.Glu758Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs140281678 GRCh37 Chromosome 12, 57970617: 57970617
30 KIF5A NM_004984.2(KIF5A): c.2272G> A (p.Glu758Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs140281678 GRCh38 Chromosome 12, 57576834: 57576834
31 KIF5A NM_004984.2(KIF5A): c.2272G> A (p.Glu758Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs140281678 NCBI36 Chromosome 12, 56256884: 56256884
32 HSPD1 NM_002156.4(HSPD1): c.273A> G (p.Lys91=) single nucleotide variant Benign rs8539 GRCh37 Chromosome 2, 198362018: 198362018
33 HSPD1 NM_002156.4(HSPD1): c.273A> G (p.Lys91=) single nucleotide variant Benign rs8539 GRCh38 Chromosome 2, 197497294: 197497294
34 HSPD1 NM_002156.4(HSPD1): c.27C> G (p.Arg9=) single nucleotide variant Conflicting interpretations of pathogenicity rs11551349 GRCh37 Chromosome 2, 198363546: 198363546
35 HSPD1 NM_002156.4(HSPD1): c.27C> G (p.Arg9=) single nucleotide variant Conflicting interpretations of pathogenicity rs11551349 GRCh38 Chromosome 2, 197498822: 197498822
36 HSPD1 NM_002156.4(HSPD1): c.69T> C (p.Thr23=) single nucleotide variant Benign rs1050347 GRCh37 Chromosome 2, 198363504: 198363504
37 HSPD1 NM_002156.4(HSPD1): c.69T> C (p.Thr23=) single nucleotide variant Benign rs1050347 GRCh38 Chromosome 2, 197498780: 197498780
38 WASHC5 NM_014846.3(WASHC5): c.3291G> A (p.Ala1097=) single nucleotide variant Benign rs11542889 GRCh37 Chromosome 8, 126044527: 126044527
39 WASHC5 NM_014846.3(WASHC5): c.3291G> A (p.Ala1097=) single nucleotide variant Benign rs11542889 GRCh38 Chromosome 8, 125032285: 125032285
40 WASHC5 NM_014846.3(WASHC5): c.597A> G (p.Pro199=) single nucleotide variant Benign rs7812319 GRCh37 Chromosome 8, 126091094: 126091094
41 WASHC5 NM_014846.3(WASHC5): c.597A> G (p.Pro199=) single nucleotide variant Benign rs7812319 GRCh38 Chromosome 8, 125078852: 125078852
42 NIPA1 NM_144599.4(NIPA1): c.441A> G (p.Thr147=) single nucleotide variant Benign rs11263683 GRCh37 Chromosome 15, 23052632: 23052632
43 NIPA1 NM_144599.4(NIPA1): c.441A> G (p.Thr147=) single nucleotide variant Benign rs11263683 GRCh38 Chromosome 15, 22820436: 22820436
44 REEP1 NM_022912.2(REEP1): c.285G> A (p.Thr95=) single nucleotide variant Benign rs2276625 GRCh37 Chromosome 2, 86481835: 86481835
45 REEP1 NM_022912.2(REEP1): c.285G> A (p.Thr95=) single nucleotide variant Benign rs2276625 GRCh38 Chromosome 2, 86254712: 86254712
46 ZFYVE27 NM_001002261.3(ZFYVE27): c.244G> A (p.Val82Ile) single nucleotide variant Benign/Likely benign rs17108378 GRCh37 Chromosome 10, 99502897: 99502897
47 ZFYVE27 NM_001002261.3(ZFYVE27): c.244G> A (p.Val82Ile) single nucleotide variant Benign/Likely benign rs17108378 GRCh38 Chromosome 10, 97743140: 97743140
48 ZFYVE27 NM_001002261.3(ZFYVE27): c.378G> A (p.Lys126=) single nucleotide variant Benign/Likely benign rs75060573 GRCh37 Chromosome 10, 99504595: 99504595
49 ZFYVE27 NM_001002261.3(ZFYVE27): c.378G> A (p.Lys126=) single nucleotide variant Benign/Likely benign rs75060573 GRCh38 Chromosome 10, 97744838: 97744838
50 ZFYVE27 NM_001002261.3(ZFYVE27): c.413G> T (p.Gly138Val) single nucleotide variant Benign rs10882993 GRCh37 Chromosome 10, 99504630: 99504630

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

Cellular components related to Spastic Paraplegia 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon cytoplasm GO:1904115 8.62 KIF5A SPAST

Sources for Spastic Paraplegia 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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