SPG10
MCID: SPS021
MIFTS: 30

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
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 SPG19 (Spastic Paraplegia 19 (Autosomal Dominant)). The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and skin.

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 Dominant
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
Spastic Paraplegia 81, Autosomal Recessive Spastic Paraplegia 82, Autosomal Recessive
Hereditary Spastic Paraplegia 23 Hereditary Spastic Paraplegia 30
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 62)
# Related Disease Score Top Affiliating Genes
1 pure hereditary spastic paraplegia 29.6 SPG19 KIF5A
2 hereditary spastic paraplegia 27.8 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 autosomal dominant spastic paraplegia type 9b 12.4
7 spastic paraplegia 8, autosomal dominant 12.4
8 spastic paraplegia 80, autosomal dominant 12.3
9 spastic paraplegia 31, autosomal dominant 12.2
10 spastic paraplegia 12, autosomal dominant 12.2
11 spastic paraplegia 72, autosomal recessive 12.2
12 spastic paraplegia 42, autosomal dominant 12.2
13 spastic paraplegia 3, autosomal dominant 12.1
14 spastic paraplegia 6, autosomal dominant 12.1
15 spastic paraplegia 73, autosomal dominant 12.1
16 spastic paraplegia 9a, autosomal dominant 12.1
17 spastic paraplegia 36, autosomal dominant 12.1
18 spastic paraplegia 33, autosomal dominant 11.8
19 spastic paraplegia 4 11.8
20 spastic paraplegia 13, autosomal dominant 11.8
21 spastic paraplegia 19, autosomal dominant 11.8
22 spastic paraplegia 37, autosomal dominant 11.8
23 spastic paraplegia 38, autosomal dominant 11.8
24 spastic paraplegia 41, autosomal dominant 11.8
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 spastic paraplegia 30, autosomal dominant 11.3
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 carnitine palmitoyltransferase i deficiency 10.1
48 spastic paraplegia 20, autosomal recessive 10.1
49 spinocerebellar ataxia 15 10.1
50 spastic paraplegia 56, autosomal recessive 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 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

Anatomical Context for Spastic Paraplegia 10

MalaCards organs/tissues related to Spastic Paraplegia 10:

40
Spinal Cord, Skin

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 99) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 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
2 SPAST NM_014946.3(SPAST):c.*11T>CSNV Conflicting interpretations of pathogenicity 335836 rs753913367 2:32379576-32379576 2:32154507-32154507
3 SPAST NM_014946.3(SPAST):c.586+9_586+12deldeletion Conflicting interpretations of pathogenicity 335830 rs554544808 2:32314680-32314683 2:32089611-32089614
4 SLC33A1 NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)SNV Conflicting interpretations of pathogenicity 343874 rs76440173 3:155546124-155546124 3:155828335-155828335
5 ATL1 NM_001127713.1(ATL1):c.969G>C (p.Arg323=)SNV Conflicting interpretations of pathogenicity 313302 rs753145983 14:51087423-51087423 14:50620705-50620705
6 NIPA1 NM_144599.5(NIPA1):c.*5474_*5477deldeletion Uncertain significance 315332 rs747886565 15:23043352-23043355 15:22829712-22829715
7 NIPA1 NM_144599.5(NIPA1):c.*1845_*1846dupduplication Uncertain significance 315395 rs113532349 15:23046982-23046983 15:22826077-22826078
8 KIF5A NM_004984.4(KIF5A):c.-193G>ASNV Uncertain significance 309929 rs886049699 12:57943862-57943862 12:57550079-57550079
9 KIF5A NM_004984.4(KIF5A):c.*422_*425GCAC[4]short repeat Uncertain significance 309959 rs150797197 12:57978382-57978383 12:57584599-57584600
10 NIPA1 NM_144599.5(NIPA1):c.*3316T>CSNV Uncertain significance 315362 rs527532188 15:23045513-23045513 15:22827555-22827555
11 NIPA1 NM_144599.5(NIPA1):c.*1190_*1191deldeletion Uncertain significance 315403 rs764504513 15:23047638-23047639 15:22825429-22825430
12 NIPA1 NM_144599.5(NIPA1):c.*2727dupduplication Uncertain significance 315372 rs746846799 15:23046101-23046102 15:22826960-22826961
13 NIPA1 NM_144599.5(NIPA1):c.*5395_*5396deldeletion Uncertain significance 315334 rs886050987 15:23043433-23043434 15:22829634-22829635
14 RTN2 NM_005619.5(RTN2):c.*217G>ASNV Uncertain significance 329544 rs886054502 19:45988749-45988749 19:45485491-45485491
15 NIPA1 NM_001142275.1(NIPA1):c.-48+390G>ASNV Uncertain significance 315427 rs886051009 15:23086430-23086430 15:22786638-22786638
16 WASHC5 NM_014846.4(WASHC5):c.-124-17dupduplication Uncertain significance 361738 rs886062656 8:126096274-126096275 8:125084032-125084033
17 WASHC5 NM_014846.4(WASHC5):c.3423+12_3423+15delshort repeat Uncertain significance 361711 rs774994568 8:126040847-126040850 8:125028605-125028608
18 SLC33A1 NM_004733.4(SLC33A1):c.*755C>TSNV Uncertain significance 343863 rs189496085 3:155545244-155545244 3:155827455-155827455
19 SLC33A1 NM_004733.4(SLC33A1):c.*746T>GSNV Uncertain significance 343864 rs774751936 3:155545253-155545253 3:155827464-155827464
20 SLC33A1 NM_004733.4(SLC33A1):c.*582_*583deldeletion Uncertain significance 343866 rs762573505 3:155545416-155545417 3:155827627-155827628
21 SLC33A1 NM_004733.4(SLC33A1):c.*149C>TSNV Uncertain significance 343872 rs886058107 3:155545850-155545850 3:155828061-155828061
22 SLC33A1 NM_004733.4(SLC33A1):c.131G>T (p.Gly44Val)SNV Uncertain significance 343884 rs780400607 3:155571656-155571656 3:155853867-155853867
23 SLC33A1 NM_004733.4(SLC33A1):c.-27C>TSNV Uncertain significance 343885 rs777838988 3:155571813-155571813 3:155854024-155854024
24 SLC33A1 NM_004733.4(SLC33A1):c.1267-4G>ASNV Uncertain significance 343876 rs779467886 3:155547696-155547696 3:155829907-155829907
25 REEP1 NM_001371279.1(REEP1):c.*2050_*2051insTinsertion Uncertain significance 337359 rs886056398 2:86442111-86442112 2:86214988-86214989
26 REEP1 NM_001371279.1(REEP1):c.*2016_*2017insAinsertion Uncertain significance 337362 rs886056400 2:86442145-86442146 2:86215022-86215023
27 REEP1 NM_001371279.1(REEP1):c.*2015_*2016deldeletion Uncertain significance 337364 rs1553455537 2:86442146-86442147 2:86215023-86215024
28 REEP1 NM_001371279.1(REEP1):c.*2016deldeletion Uncertain significance 337363 rs886056401 2:86442146-86442146 2:86215023-86215023
29 SLC33A1 NM_004733.4(SLC33A1):c.-281C>TSNV Uncertain significance 343889 rs560777515 3:155572067-155572067 3:155854278-155854278
30 REEP1 NM_001371279.1(REEP1):c.*1992deldeletion Uncertain significance 337367 rs886056404 2:86442170-86442170 2:86215047-86215047
31 REEP1 NM_001371279.1(REEP1):c.*389_*390CA[1]short repeat Uncertain significance 337383 rs886056409 2:86443770-86443771 2:86216647-86216648
32 SLC33A1 NM_004733.4(SLC33A1):c.*1230A>GSNV Uncertain significance 343858 rs886058101 3:155544769-155544769 3:155826980-155826980
33 SLC33A1 NM_004733.4(SLC33A1):c.*869G>ASNV Uncertain significance 343862 rs886058104 3:155545130-155545130 3:155827341-155827341
34 SLC33A1 NM_004733.4(SLC33A1):c.*595A>CSNV Uncertain significance 343865 rs886058105 3:155545404-155545404 3:155827615-155827615
35 SPAST NM_199436.1(SPAST):c.*372_*375TTGT[2]short repeat Uncertain significance 335843 rs756347073 2:32379936-32379939 2:32154867-32154870
36 SPAST NM_014946.3(SPAST):c.*815_*828delinsAACindel Uncertain significance 335852 rs886055971 2:32380380-32380393 2:32155311-32155324
37 REEP1 NM_001371279.1(REEP1):c.*2022deldeletion Uncertain significance 337361 rs886056399 2:86442140-86442140 2:86215017-86215017
38 REEP1 NM_001371279.1(REEP1):c.*2014_*2016deldeletion Uncertain significance 337365 rs886056403 2:86442146-86442148 2:86215023-86215025
39 SPAST NM_014946.3(SPAST):c.*1544dupduplication Uncertain significance 335862 rs542086083 2:32381106-32381107 2:32156037-32156038
40 HSPD1 NM_002156.5(HSPD1):c.*18dupduplication Uncertain significance 333305 rs777031722 2:198351751-198351752 2:197487027-197487028
41 HSPD1 NM_199440.1(HSPD1):c.-3+253C>GSNV Uncertain significance 333316 rs886055390 2:198364631-198364631 2:197499907-197499907
42 SPAST NM_014946.3(SPAST):c.-104_-102deldeletion Uncertain significance 335825 rs886055960 2:32288797-32288799 2:32063728-32063730
43 REEP1 NM_001371279.1(REEP1):c.*1020_*1021CA[2]short repeat Uncertain significance 337376 rs886056408 2:86443137-86443138 2:86216014-86216015
44 SLC33A1 NM_004733.4(SLC33A1):c.*893deldeletion Uncertain significance 343861 rs886058103 3:155545106-155545106 3:155827317-155827317
45 SLC33A1 NM_004733.4(SLC33A1):c.*509G>TSNV Uncertain significance 343868 rs886058106 3:155545490-155545490 3:155827701-155827701
46 SPAST NM_014946.3(SPAST):c.-176C>TSNV Uncertain significance 335823 rs886055958 2:32288725-32288725 2:32063656-32063656
47 SLC33A1 NM_004733.4(SLC33A1):c.1149-4A>GSNV Uncertain significance 343877 rs773106675 3:155551378-155551378 3:155833589-155833589
48 SLC33A1 NM_004733.4(SLC33A1):c.1068G>A (p.Gln356=)SNV Uncertain significance 343878 rs886058108 3:155551726-155551726 3:155833937-155833937
49 SLC33A1 NM_004733.4(SLC33A1):c.904T>C (p.Phe302Leu)SNV Uncertain significance 343879 rs886058109 3:155560280-155560280 3:155842491-155842491
50 SLC33A1 NM_004733.4(SLC33A1):c.613T>C (p.Leu205=)SNV Uncertain significance 343880 rs886058110 3:155571174-155571174 3:155853385-155853385

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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