SPG10
MCID: SPS021
MIFTS: 35

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 53 29 6
Spastic Paraplegia 10, Autosomal Dominant 72
Spastic Paraplegia, Autosomal Dominant 6
Autosomal Dominant Spastic Paraplegia 53
Spg10 53

Classifications:



External Ids:

UMLS 72 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: 100991DefinitionA 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). The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin and spinal cord.

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 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 top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 10, autosomal dominant 12.8
2 spastic paraplegia 4, autosomal dominant 12.4
3 pure or complex autosomal dominant spastic paraplegia 12.4
4 spastic paraplegia 8, autosomal dominant 12.4
5 autosomal dominant spastic paraplegia type 9b 12.4
6 obsolete: autosomal dominant spastic paraplegia type 9 12.4
7 spastic paraplegia 12, autosomal dominant 12.2
8 spastic paraplegia 72, autosomal recessive 12.2
9 spastic paraplegia 42, autosomal dominant 12.2
10 spastic paraplegia 31, autosomal dominant 12.2
11 spastic paraplegia 3, autosomal dominant 12.1
12 spastic paraplegia 6, autosomal dominant 12.1
13 spastic paraplegia 36, autosomal dominant 12.1
14 spastic paraplegia 73, autosomal dominant 12.1
15 spastic paraplegia 9a, autosomal dominant 12.1
16 spastic paraplegia 80, autosomal dominant 12.1
17 spastic paraplegia 31 11.9
18 spastic paraplegia 33, autosomal dominant 11.8
19 spastic paraplegia 4 11.8
20 spastic paraplegia 13, autosomal dominant 11.7
21 spastic paraplegia 19, autosomal dominant 11.7
22 spastic paraplegia 37, autosomal dominant 11.7
23 spastic paraplegia 38, autosomal dominant 11.7
24 spastic paraplegia 41, autosomal dominant 11.7
25 spastic paraplegia 8 11.7
26 spastic paraplegia 17, autosomal dominant 11.7
27 spastic paraplegia 29, autosomal dominant 11.7
28 hereditary spastic paraplegia 51 11.4
29 spastic paraplegia 17 11.4
30 optic atrophy 3, autosomal dominant 11.4
31 paraplegia 10.5
32 hereditary spastic paraplegia 10.5
33 spastic paraplegia 6 10.4
34 peripheral nervous system disease 10.3
35 neuropathy 10.3
36 spasticity 10.2
37 x-linked complicated spastic paraplegia type 1 10.2
38 amyotrophic lateral sclerosis 1 10.1
39 retinitis pigmentosa 10.1
40 branchiootic syndrome 1 10.1
41 neuroretinitis 10.1
42 pseudobulbar palsy 10.1
43 polyneuropathy 10.1
44 lateral sclerosis 10.1
45 retinitis 10.1
46 spastic paraplegia 3a 10.1
47 dysautonomia 10.1
48 carnitine palmitoyltransferase i deficiency 10.1
49 spastic paraplegia 20, autosomal recessive 10.1
50 scoliosis 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 Cholinergic Agents Phase 2, Phase 3
3 Neurotransmitter Agents Phase 2, Phase 3
4 Acetylcholine Release Inhibitors Phase 2, Phase 3
5 Botulinum Toxins 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:

41
Skin, Spinal Cord

Publications for Spastic Paraplegia 10

Articles related to Spastic Paraplegia 10:

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

Variations for Spastic Paraplegia 10

ClinVar genetic disease variations for Spastic Paraplegia 10:

6 (show top 50) (show all 477)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KIF5A NM_004984.4(KIF5A): c.767A> G (p.Asn256Ser) single nucleotide variant Pathogenic rs121434441 12:57962798-57962798 12:57569015-57569015
2 KIF5A NM_004984.4(KIF5A): c.838C> T (p.Arg280Cys) single nucleotide variant Pathogenic rs121434442 12:57963057-57963057 12:57569274-57569274
3 KIF5A NM_004984.4(KIF5A): c.1082C> T (p.Ala361Val) single nucleotide variant Pathogenic rs121434444 12:57963431-57963431 12:57569648-57569648
4 KIF5A NM_004984.4(KIF5A): c.751G> A (p.Glu251Lys) single nucleotide variant Pathogenic rs387907285 12:57962782-57962782 12:57568999-57568999
5 KIF5A NM_004984.4(KIF5A): c.611G> A (p.Arg204Gln) single nucleotide variant Pathogenic rs387907287 12:57961298-57961298 12:57567515-57567515
6 KIF5A NM_004984.4(KIF5A): c.704G> A (p.Gly235Glu) single nucleotide variant Pathogenic rs387907289 12:57961391-57961391 12:57567608-57567608
7 KIF5A NM_004984.4(KIF5A): c.694G> A (p.Asp232Asn) single nucleotide variant Pathogenic rs690016545 12:57961381-57961381 12:57567598-57567598
8 KIF5A NM_004984.4(KIF5A): c.827A> G (p.Tyr276Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121434443 12:57963046-57963046 12:57569263-57569263
9 KIF5A NM_004984.4(KIF5A): c.799T> C (p.Ser267Pro) single nucleotide variant Likely pathogenic rs1131692233 12:57962830-57962830 12:57569047-57569047
10 ZFYVE27 NM_144588.7(ZFYVE27): c.572G> T (p.Gly191Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35077384 10:99509251-99509251 10:97749494-97749494
11 KIF5A NM_004984.4(KIF5A): c.839G> A (p.Arg280His) single nucleotide variant Conflicting interpretations of pathogenicity rs387907288 12:57963058-57963058 12:57569275-57569275
12 KIF5A NM_004984.4(KIF5A): c.2272G> A (p.Glu758Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs140281678 12:57970617-57970617 12:57576834-57576834
13 HSPD1 NM_199440.1(HSPD1): c.27C> G (p.Arg9=) single nucleotide variant Conflicting interpretations of pathogenicity rs11551349 2:198363546-198363546 2:197498822-197498822
14 NIPA1 NM_144599.5(NIPA1): c.24_26GGC[10] (p.Ala15_Ala16dup) short repeat Conflicting interpretations of pathogenicity rs531550505 15:23086365-23086370 15:22786698-22786703
15 SPAST NM_014946.3(SPAST): c.289C> A (p.Pro97Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs372005558 2:32289189-32289189 2:32064120-32064120
16 KIF5A NM_004984.4(KIF5A): c.129+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs372131378 12:57944192-57944192 12:57550409-57550409
17 REEP1 NM_001164731.2(REEP1): c.*50G> A single nucleotide variant Conflicting interpretations of pathogenicity rs189652973 2:86444173-86444173 2:86217050-86217050
18 KIF5A NM_004984.4(KIF5A): c.1105C> T (p.Arg369Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140929639 12:57963454-57963454 12:57569671-57569671
19 KIF5A NM_004984.4(KIF5A): c.2412C> T (p.Asp804=) single nucleotide variant Conflicting interpretations of pathogenicity rs145062338 12:57971842-57971842 12:57578059-57578059
20 NIPA1 NM_144599.5(NIPA1): c.312G> A (p.Pro104=) single nucleotide variant Conflicting interpretations of pathogenicity rs139372534 15:23060820-23060820 15:22812248-22812248
21 SPAST NM_014946.3(SPAST): c.*11T> C single nucleotide variant Conflicting interpretations of pathogenicity rs753913367 2:32379576-32379576 2:32154507-32154507
22 SPAST NM_014946.3(SPAST): c.-41C> T single nucleotide variant Conflicting interpretations of pathogenicity rs374327295 2:32288860-32288860 2:32063791-32063791
23 SPAST NM_014946.3(SPAST): c.484G> A (p.Val162Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs141944844 2:32312629-32312629 2:32087560-32087560
24 SPAST NM_014946.3(SPAST): c.586+9_586+12delTAAT deletion Conflicting interpretations of pathogenicity rs554544808 2:32314683-32314686 2:32089614-32089617
25 SLC33A1 NM_004733.4(SLC33A1): c.1525G> A (p.Gly509Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs76440173 3:155546124-155546124 3:155828335-155828335
26 ZFYVE27 NM_144588.7(ZFYVE27): c.424C> T (p.Arg142Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs145746084 10:99504641-99504641 10:97744884-97744884
27 ZFYVE27 NM_144588.7(ZFYVE27): c.522G> A (p.Leu174=) single nucleotide variant Conflicting interpretations of pathogenicity rs143515214 10:99508092-99508092 10:97748335-97748335
28 KIF5A NM_004984.4(KIF5A): c.471C> T (p.His157=) single nucleotide variant Conflicting interpretations of pathogenicity rs143178113 12:57958726-57958726 12:57564943-57564943
29 KIF5A NM_004984.4(KIF5A): c.2927C> T (p.Thr976Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs139801016 12:57975670-57975670 12:57581887-57581887
30 ATL1 NM_015915.4(ATL1): c.1152A> G (p.Pro384=) single nucleotide variant Conflicting interpretations of pathogenicity rs377127492 14:51094781-51094781 14:50628063-50628063
31 ATL1 NM_015915.4(ATL1): c.1173C> T (p.His391=) single nucleotide variant Conflicting interpretations of pathogenicity rs149340140 14:51094802-51094802 14:50628084-50628084
32 NIPA1 NM_144599.5(NIPA1): c.291C> G (p.Pro97=) single nucleotide variant Conflicting interpretations of pathogenicity rs199818530 15:23060841-23060841 15:22812227-22812227
33 NIPA1 NM_144599.5(NIPA1): c.*4895A> G single nucleotide variant Uncertain significance rs754185572 15:23043934-23043934 15:22829134-22829134
34 NIPA1 NM_144599.5(NIPA1): c.*3462A> G single nucleotide variant Uncertain significance rs766376279 15:23045367-23045367 15:22827701-22827701
35 NIPA1 NM_144599.5(NIPA1): c.*3707G> C single nucleotide variant Uncertain significance rs373829118 15:23045122-23045122 15:22827946-22827946
36 NIPA1 NM_144599.5(NIPA1): c.*4690C> A single nucleotide variant Uncertain significance rs554203851 15:23044139-23044139 15:22828929-22828929
37 NIPA1 NM_144599.5(NIPA1): c.*1860G> A single nucleotide variant Uncertain significance rs886051001 15:23046969-23046969 15:22826099-22826099
38 NIPA1 NM_144599.5(NIPA1): c.*2079T> G single nucleotide variant Uncertain significance rs886050999 15:23046750-23046750 15:22826318-22826318
39 NIPA1 NM_144599.5(NIPA1): c.*2148C> A single nucleotide variant Uncertain significance rs886050997 15:23046681-23046681 15:22826387-22826387
40 NIPA1 NM_144599.5(NIPA1): c.*2685T> C single nucleotide variant Uncertain significance rs886050994 15:23046144-23046144 15:22826924-22826924
41 NIPA1 NM_144599.5(NIPA1): c.*2727dup duplication Uncertain significance rs746846799 15:23046102-23046102 15:22826966-22826966
42 NIPA1 NM_144599.5(NIPA1): c.*976C> T single nucleotide variant Uncertain significance rs555439829 15:23047853-23047853 15:22825215-22825215
43 NIPA1 NM_144599.5(NIPA1): c.*1190_*1191del deletion Uncertain significance rs764504513 15:23047638-23047639 15:22825429-22825430
44 NIPA1 NM_144599.5(NIPA1): c.*5395_*5396del deletion Uncertain significance rs886050987 15:23043433-23043434 15:22829634-22829635
45 RTN2 NM_005619.5(RTN2): c.*300G> C single nucleotide variant Uncertain significance rs532093070 19:45988666-45988666 19:45485408-45485408
46 RTN2 NM_005619.5(RTN2): c.*217G> A single nucleotide variant Uncertain significance rs886054502 19:45988749-45988749 19:45485491-45485491
47 RTN2 NM_005619.5(RTN2): c.*148G> A single nucleotide variant Uncertain significance rs886054503 19:45988818-45988818 19:45485560-45485560
48 NIPA1 NM_144599.5(NIPA1): c.*4147C> T single nucleotide variant Uncertain significance rs886050989 15:23044682-23044682 15:22828386-22828386
49 RTN2 NM_005619.5(RTN2): c.986G> A (p.Ser329Asn) single nucleotide variant Uncertain significance rs145653668 19:45996465-45996465 19:45493207-45493207
50 KIF5A NM_004984.4(KIF5A): c.2119C> T (p.Arg707Trp) single nucleotide variant Uncertain significance 12:57970082-57970082 12:57576299-57576299

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

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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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