SPG10
MCID: SPS021
MIFTS: 33

Spastic Paraplegia 10 (SPG10)

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

Aliases & Classifications for Spastic Paraplegia 10

MalaCards integrated aliases for Spastic Paraplegia 10:

Name: Spastic Paraplegia 10 52 29 6
Spastic Paraplegia 10, Autosomal Dominant 71
Spastic Paraplegia, Autosomal Dominant 6
Autosomal Dominant Spastic Paraplegia 52
Spg10 52

Classifications:



External Ids:

UMLS 71 C1858712

Summaries for Spastic Paraplegia 10

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100991 Definition 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 pure hereditary spastic paraplegia and hereditary spastic paraplegia, and has symptoms including urgency of micturition An important gene associated with Spastic Paraplegia 10 is KIF5A (Kinesin Family Member 5A). The drugs Acetylcholine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, spinal cord 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 23 Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 72 Hereditary Spastic Paraplegia
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 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 32
Spastic Paraplegia 39 Spastic Paraplegia 47
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 top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 pure hereditary spastic paraplegia 29.6 SPG19 KIF5A
2 hereditary spastic paraplegia 27.7 SPG41 SPG38 SPG37 SPG29 SPG19 KIF5A
3 spastic paraplegia 10, autosomal dominant 12.8
4 spastic paraplegia 4, autosomal dominant 12.5
5 pure or complex autosomal dominant spastic paraplegia 12.4
6 spastic paraplegia 8, autosomal dominant 12.4
7 autosomal dominant spastic paraplegia type 9b 12.4
8 obsolete: autosomal dominant spastic paraplegia type 9 12.4
9 spastic paraplegia 80, autosomal dominant 12.3
10 spastic paraplegia 31, autosomal dominant 12.2
11 spastic paraplegia 12, autosomal dominant 12.2
12 spastic paraplegia 72, autosomal recessive 12.2
13 spastic paraplegia 42, autosomal dominant 12.2
14 spastic paraplegia 3, autosomal dominant 12.1
15 spastic paraplegia 6, autosomal dominant 12.1
16 spastic paraplegia 36, autosomal dominant 12.1
17 spastic paraplegia 73, autosomal dominant 12.1
18 spastic paraplegia 9a, autosomal dominant 12.1
19 spastic paraplegia 33, autosomal dominant 11.8
20 spastic paraplegia 4 11.8
21 spastic paraplegia 13, autosomal dominant 11.7
22 spastic paraplegia 19, autosomal dominant 11.7
23 spastic paraplegia 37, autosomal dominant 11.7
24 spastic paraplegia 38, autosomal dominant 11.7
25 spastic paraplegia 41, autosomal dominant 11.7
26 spastic paraplegia 8 11.7
27 spastic paraplegia 17, autosomal dominant 11.7
28 spastic paraplegia 29, autosomal dominant 11.7
29 hereditary spastic paraplegia 51 11.4
30 spastic paraplegia 17 11.4
31 paraplegia 10.5
32 spastic paraplegia 6 10.4
33 peripheral nervous system disease 10.3
34 neuropathy 10.3
35 spasticity 10.2
36 x-linked complicated spastic paraplegia type 1 10.2
37 amyotrophic lateral sclerosis 1 10.1
38 retinitis pigmentosa 10.1
39 branchiootic syndrome 1 10.1
40 neuroretinitis 10.1
41 pseudobulbar palsy 10.1
42 polyneuropathy 10.1
43 lateral sclerosis 10.1
44 retinitis 10.1
45 spastic paraplegia 3a 10.1
46 dysautonomia 10.1
47 machado-joseph disease 10.1
48 carnitine palmitoyltransferase i deficiency 10.1
49 spastic paraplegia 20, autosomal recessive 10.1
50 spinocerebellar ataxia 11 10.1

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

Drugs for Spastic Paraplegia 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
2 Neurotransmitter Agents Phase 2, Phase 3
3 Acetylcholine Release Inhibitors Phase 2, Phase 3
4 Botulinum Toxins Phase 2, Phase 3
5 Cholinergic Agents Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Botulinum Toxin in Patients With Hereditary Spastic Paraplegia: a Randomized, Double-blind, Placebo-controlled, Crossover Study Completed NCT02604186 Phase 2, Phase 3

Search 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

MalaCards organs/tissues related to Spastic Paraplegia 10:

40
Skin, Spinal Cord, Eye, Bone

Publications for Spastic Paraplegia 10

Articles related to Spastic Paraplegia 10:

(show all 46)
# Title Authors PMID Year
1
Altered CSF levels of monoamines in hereditary spastic paraparesis 10: A case series. 61
31403080 2019
2
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes. 61
30778698 2019
3
Going Too Far Is the Same as Falling Short†: Kinesin-3 Family Members in Hereditary Spastic Paraplegia. 61
31616253 2019
4
A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome. 61
30583522 2018
5
Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia. 61
30411208 2018
6
A novel KIF5A gene variant causes spastic paraplegia and cerebellar ataxia. 61
30480035 2018
7
JASPAC: Japan Spastic Paraplegia Research Consortium. 61
30104498 2018
8
Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis. 61
29908077 2018
9
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. 61
29566793 2018
10
KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy. 61
27414745 2017
11
A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss. 61
28382308 2017
12
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction. 61
27463701 2016
13
Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis. 61
27084214 2016
14
Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy. 61
26403765 2015
15
Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10. 61
25352184 2015
16
A novel mutation in motor domain of KIF5A associated with an HSP/axonal neuropathy phenotype. 61
25695920 2015
17
[Japan Spastic Paraplegia Research Consortium (JASPAC)]. 61
25296875 2014
18
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness. 61
24939576 2014
19
Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany. 61
24731568 2014
20
Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia. 61
24668814 2014
21
[Hereditary spastic paraplegia: up to date]. 61
25519960 2014
22
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
23
Role of kinesin-1 in the pathogenesis of SPG10, a rare form of hereditary spastic paraplegia. 61
22785106 2013
24
Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality. 61
22788249 2013
25
Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2. 61
21623771 2012
26
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
27
Axonal transport deficit in a KIF5A( -/- ) mouse model. 61
22466687 2012
28
Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model. 61
23209432 2012
29
[Hereditary spastic paraplegia in Japan]. 61
22277506 2011
30
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. 61
21107874 2011
31
[Japan spastic paraplegia research consortium (JASPAC)]. 61
21921516 2010
32
A hereditary spastic paraplegia mutation in kinesin-1A/KIF5A disrupts neurofilament transport. 61
21087519 2010
33
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. 61
18853458 2009
34
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. 61
18500496 2008
35
SPG10 is a rare cause of spastic paraplegia in European families. 61
18245137 2008
36
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity. 61
18203753 2008
37
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 61
18364116 2008
38
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. 61
16682546 2006
39
Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia. 61
16489470 2006
40
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. 61
15452312 2004
41
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). 61
12355402 2002
42
Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia. 61
11354831 2001
43
The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate. 61
11334010 2001
44
Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. 61
10797436 2000
45
A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity. 61
10441583 1999
46
[Neurologic risks caused by perinatal and neonatal problems in a provincial hospital]. 61
2093890 1990

Variations for Spastic Paraplegia 10

ClinVar genetic disease variations for Spastic Paraplegia 10:

6 (show top 50) (show all 477) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIF5A NM_004984.4(KIF5A):c.694G>A (p.Asp232Asn)SNV Pathogenic 162100 rs690016545 12:57961381-57961381 12:57567598-57567598
2 KIF5A NM_004984.4(KIF5A):c.767A>G (p.Asn256Ser)SNV Pathogenic 6806 rs121434441 12:57962798-57962798 12:57569015-57569015
3 KIF5A NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val)SNV Pathogenic 6809 rs121434444 12:57963431-57963431 12:57569648-57569648
4 KIF5A NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys)SNV Pathogenic 37127 rs387907285 12:57962782-57962782 12:57568999-57568999
5 KIF5A NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln)SNV Pathogenic 37129 rs387907287 12:57961298-57961298 12:57567515-57567515
6 KIF5A NM_004984.4(KIF5A):c.704G>A (p.Gly235Glu)SNV Pathogenic 37131 rs387907289 12:57961391-57961391 12:57567608-57567608
7 KIF5A NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys)SNV Pathogenic/Likely pathogenic 6808 rs121434443 12:57963046-57963046 12:57569263-57569263
8 KIF5A NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)SNV Likely pathogenic 6807 rs121434442 12:57963057-57963057 12:57569274-57569274
9 KIF5A NM_004984.4(KIF5A):c.799T>C (p.Ser267Pro)SNV Likely pathogenic 430828 rs1131692233 12:57962830-57962830 12:57569047-57569047
10 NIPA1 NM_144599.5(NIPA1):c.291C>G (p.Pro97=)SNV Conflicting interpretations of pathogenicity 315426 rs199818530 15:23060841-23060841 15:22812227-22812227
11 ATL1 NM_001127713.1(ATL1):c.1608T>G (p.Ala536=)SNV Conflicting interpretations of pathogenicity 313307 rs777479928 14:51099003-51099003 14:50632285-50632285
12 NIPA1 NM_144599.5(NIPA1):c.753G>C (p.Ala251=)SNV Conflicting interpretations of pathogenicity 315423 rs199718530 15:23049066-23049066 15:22824002-22824002
13 KIF5A NM_004984.4(KIF5A):c.2838C>T (p.Tyr946=)SNV Conflicting interpretations of pathogenicity 309947 rs781143696 12:57975280-57975280 12:57581497-57581497
14 ATL1 NM_001127713.1(ATL1):c.756C>T (p.Asn252=)SNV Conflicting interpretations of pathogenicity 313301 rs771031586 14:51081123-51081123 14:50614405-50614405
15 ATL1 NM_001127713.1(ATL1):c.969G>C (p.Arg323=)SNV Conflicting interpretations of pathogenicity 313302 rs753145983 14:51087423-51087423 14:50620705-50620705
16 KIF5A NM_004984.4(KIF5A):c.1389C>T (p.Asn463=)SNV Conflicting interpretations of pathogenicity 309939 rs112982686 12:57965870-57965870 12:57572087-57572087
17 KIF5A NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile)SNV Conflicting interpretations of pathogenicity 309950 rs139801016 12:57975670-57975670 12:57581887-57581887
18 ATL1 NM_001127713.1(ATL1):c.1152A>G (p.Pro384=)SNV Conflicting interpretations of pathogenicity 313304 rs377127492 14:51094781-51094781 14:50628063-50628063
19 ATL1 NM_001127713.1(ATL1):c.1173C>T (p.His391=)SNV Conflicting interpretations of pathogenicity 313305 rs149340140 14:51094802-51094802 14:50628084-50628084
20 KIF5A NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys)SNV Conflicting interpretations of pathogenicity 79154 rs140281678 12:57970617-57970617 12:57576834-57576834
21 KIF5A NM_004984.4(KIF5A):c.839G>A (p.Arg280His)SNV Conflicting interpretations of pathogenicity 37130 rs387907288 12:57963058-57963058 12:57569275-57569275
22 HSPD1 NM_002156.5(HSPD1):c.27C>G (p.Arg9=)SNV Conflicting interpretations of pathogenicity 129242 rs11551349 2:198363546-198363546 2:197498822-197498822
23 NIPA1 NM_144599.5(NIPA1):c.24_26GGC[10] (p.Ala15_Ala16dup)short repeat Conflicting interpretations of pathogenicity 193496 rs531550505 15:23086364-23086365 15:22786677-22786678
24 REEP1 NM_001164731.2(REEP1):c.*50G>ASNV Conflicting interpretations of pathogenicity 215087 rs189652973 2:86444173-86444173 2:86217050-86217050
25 KIF5A NM_004984.4(KIF5A):c.129+9C>TSNV Conflicting interpretations of pathogenicity 219607 rs372131378 12:57944192-57944192 12:57550409-57550409
26 ZFYVE27 NM_144588.7(ZFYVE27):c.572G>T (p.Gly191Val)SNV Conflicting interpretations of pathogenicity 1289 rs35077384 10:99509251-99509251 10:97749494-97749494
27 NIPA1 NM_144599.5(NIPA1):c.312G>A (p.Pro104=)SNV Conflicting interpretations of pathogenicity 289458 rs139372534 15:23060820-23060820 15:22812248-22812248
28 KIF5A NM_004984.4(KIF5A):c.2412C>T (p.Asp804=)SNV Conflicting interpretations of pathogenicity 240086 rs145062338 12:57971842-57971842 12:57578059-57578059
29 SPAST NM_014946.3(SPAST):c.*11T>CSNV Conflicting interpretations of pathogenicity 335836 rs753913367 2:32379576-32379576 2:32154507-32154507
30 SPAST NM_014946.3(SPAST):c.-41C>TSNV Conflicting interpretations of pathogenicity 335826 rs374327295 2:32288860-32288860 2:32063791-32063791
31 SPAST NM_014946.3(SPAST):c.484G>A (p.Val162Ile)SNV Conflicting interpretations of pathogenicity 335829 rs141944844 2:32312629-32312629 2:32087560-32087560
32 SPAST NM_014946.3(SPAST):c.586+9_586+12deldeletion Conflicting interpretations of pathogenicity 335830 rs554544808 2:32314680-32314683 2:32089611-32089614
33 SLC33A1 NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)SNV Conflicting interpretations of pathogenicity 343874 rs76440173 3:155546124-155546124 3:155828335-155828335
34 WASHC5 NM_014846.4(WASHC5):c.2052T>G (p.Thr684=)SNV Conflicting interpretations of pathogenicity 361719 rs886062652 8:126067878-126067878 8:125055636-125055636
35 ZFYVE27 NM_144588.7(ZFYVE27):c.424C>T (p.Arg142Cys)SNV Conflicting interpretations of pathogenicity 301831 rs145746084 10:99504641-99504641 10:97744884-97744884
36 ZFYVE27 NM_144588.7(ZFYVE27):c.522G>A (p.Leu174=)SNV Conflicting interpretations of pathogenicity 301835 rs143515214 10:99508092-99508092 10:97748335-97748335
37 KIF5A NM_004984.4(KIF5A):c.471C>T (p.His157=)SNV Conflicting interpretations of pathogenicity 309934 rs143178113 12:57958726-57958726 12:57564943-57564943
38 KIF5A NM_004984.4(KIF5A):c.566C>T (p.Ser189Leu)SNV Uncertain significance 309935 rs140144799 12:57960973-57960973 12:57567190-57567190
39 KIF5A NM_004984.4(KIF5A):c.968+12G>CSNV Uncertain significance 309936 rs536186088 12:57963199-57963199 12:57569416-57569416
40 KIF5A NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr)SNV Uncertain significance 309949 rs746095110 12:57975323-57975323 12:57581540-57581540
41 KIF5A NM_004984.4(KIF5A):c.2994A>G (p.Gly998=)SNV Uncertain significance 309951 rs750415265 12:57976386-57976386 12:57582603-57582603
42 ZFYVE27 NM_144588.7(ZFYVE27):c.*223G>CSNV Uncertain significance 301845 rs886047527 10:99519280-99519280 10:97759523-97759523
43 ZFYVE27 NM_144588.7(ZFYVE27):c.386G>A (p.Ser129Asn)SNV Uncertain significance 301830 rs763464659 10:99504603-99504603 10:97744846-97744846
44 WASHC5 NM_014846.4(WASHC5):c.2954+13G>TSNV Uncertain significance 361714 rs886062651 8:126052024-126052024 8:125039782-125039782
45 WASHC5 NM_014846.4(WASHC5):c.-20A>GSNV Uncertain significance 361736 rs762683769 8:126096160-126096160 8:125083918-125083918
46 WASHC5 NM_014846.4(WASHC5):c.-219G>CSNV Uncertain significance 361741 rs886062658 8:126103951-126103951 8:125091709-125091709
47 WASHC5 NM_014846.4(WASHC5):c.3438T>C (p.His1146=)SNV Uncertain significance 361710 rs764539889 8:126036901-126036901 8:125024659-125024659
48 WASHC5 NM_014846.4(WASHC5):c.1345C>A (p.Arg449=)SNV Uncertain significance 361723 rs886062653 8:126075827-126075827 8:125063585-125063585
49 WASHC5 NM_014846.4(WASHC5):c.405A>G (p.Gly135=)SNV Uncertain significance 361733 rs529518868 8:126094637-126094637 8:125082395-125082395
50 ZFYVE27 NM_144588.7(ZFYVE27):c.1167C>A (p.Ala389=)SNV Uncertain significance 301840 rs768113258 10:99517476-99517476 10:97757719-97757719

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 EFO
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