SPG10
MCID: SPS021
MIFTS: 27

Spastic Paraplegia 10 (SPG10)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle 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 20 6
Spastic Paraplegia 10, Autosomal Dominant 70
Spastic Paraplegia, Autosomal Dominant 6
Autosomal Dominant Spastic Paraplegia 20
Spg10 20

Classifications:



External Ids:

UMLS 70 C1858712

Summaries for Spastic Paraplegia 10

GARD : 20 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.

MalaCards based summary : Spastic Paraplegia 10, also known as spastic paraplegia 10, autosomal dominant, is related to spastic paraplegia 41, autosomal dominant and pure hereditary spastic paraplegia, and has symptoms including urgency of micturition An important gene associated with Spastic Paraplegia 10 is KIF5A (Kinesin Family Member 5A). Affiliated tissues include 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 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
Spastic Paraplegia 83, 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 61)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 41, autosomal dominant 31.8 SPG41 KIF5A
2 pure hereditary spastic paraplegia 29.9 SPG19 KIF5A
3 hereditary spastic paraplegia 28.4 SPG41 SPG38 SPG37 SPG29 SPG19 KIF5A
4 spastic paraplegia 10, autosomal dominant 11.8
5 spastic paraplegia 4, autosomal dominant 11.7
6 spastic paraplegia 8, autosomal dominant 11.7
7 spastic paraplegia 9a, autosomal dominant 11.7
8 spastic paraplegia 12, autosomal dominant 11.7
9 spastic paraplegia 31, autosomal dominant 11.6
10 spastic paraplegia 3, autosomal dominant 11.5
11 spastic paraplegia 6, autosomal dominant 11.5
12 spastic paraplegia 42, autosomal dominant 11.5
13 spastic paraplegia 36, autosomal dominant 11.5
14 spastic paraplegia 73, autosomal dominant 11.5
15 spastic paraplegia 72, autosomal recessive 11.5
16 spastic paraplegia 17, autosomal dominant 11.5
17 spastic paraplegia 19, autosomal dominant 11.5
18 spastic paraplegia 37, autosomal dominant 11.5
19 spastic paraplegia 38, autosomal dominant 11.5
20 spastic paraplegia 13, autosomal dominant 11.4
21 spastic paraplegia 29, autosomal dominant 11.4
22 pure or complex autosomal dominant spastic paraplegia 11.4
23 spastic paraplegia 4 11.4
24 spastic paraplegia 8 11.3
25 spastic paraplegia 33, autosomal dominant 11.3
26 hereditary spastic paraplegia 51 11.3
27 spastic paraplegia 17 11.3
28 autosomal dominant spastic paraplegia type 9b 11.3
29 spastic paraplegia 80, autosomal dominant 11.2
30 spastic paraplegia 30, autosomal dominant 11.2
31 spastic paraplegia 6 10.4
32 paraplegia 10.3
33 spastic paraplegia 3 10.2
34 x-linked complicated spastic paraplegia type 1 10.2
35 neuropathy 10.2
36 peripheral nervous system disease 10.1
37 carnitine palmitoyltransferase i deficiency 10.1
38 spastic paraplegia 20, autosomal recessive 10.1
39 alacrima, achalasia, and mental retardation syndrome 10.1
40 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.1
41 scoliosis 10.1
42 centronuclear myopathy 10.1
43 myopathy 10.1
44 pathologic nystagmus 10.1
45 huppke-brendel syndrome 10.1
46 spastic paraparesis 10.1
47 autosomal dominant pure spastic paraplegia 10.1
48 autosomal dominant complex spastic paraplegia 10.1
49 spasticity 10.0
50 amyotrophic lateral sclerosis 1 9.9

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

Anatomical Context for Spastic Paraplegia 10

MalaCards organs/tissues related to Spastic Paraplegia 10:

40
Spinal Cord

Publications for Spastic Paraplegia 10

Articles related to Spastic Paraplegia 10:

(show all 48)
# Title Authors PMID Year
1
Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2. 6 61
21623771 2012
2
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. 6 61
18853458 2009
3
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity. 61 6
18203753 2008
4
Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia. 61 6
16489470 2006
5
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. 61 6
15452312 2004
6
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). 61 6
12355402 2002
7
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. 6
25008398 2014
8
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia. 6
16476820 2006
9
Altered CSF levels of monoamines in hereditary spastic paraparesis 10: A case series. 61
31403080 2019
10
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes. 61
30778698 2019
11
Going Too Far Is the Same as Falling Short†: Kinesin-3 Family Members in Hereditary Spastic Paraplegia. 61
31616253 2019
12
A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome. 61
30583522 2018
13
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
14
A novel KIF5A gene variant causes spastic paraplegia and cerebellar ataxia. 61
30480035 2018
15
JASPAC: Japan Spastic Paraplegia Research Consortium. 61
30104498 2018
16
Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis. 61
29908077 2018
17
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. 61
29566793 2018
18
KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy. 61
27414745 2017
19
A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss. 61
28382308 2017
20
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction. 61
27463701 2016
21
Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis. 61
27084214 2016
22
Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy. 61
26403765 2015
23
Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10. 61
25352184 2015
24
A novel mutation in motor domain of KIF5A associated with an HSP/axonal neuropathy phenotype. 61
25695920 2015
25
[Japan Spastic Paraplegia Research Consortium (JASPAC)]. 61
25296875 2014
26
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness. 61
24939576 2014
27
Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia. 61
24668814 2014
28
Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany. 61
24731568 2014
29
[Hereditary spastic paraplegia: up to date]. 61
25519960 2014
30
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
31
Role of kinesin-1 in the pathogenesis of SPG10, a rare form of hereditary spastic paraplegia. 61
22785106 2013
32
Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality. 61
22788249 2013
33
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
34
Axonal transport deficit in a KIF5A( -/- ) mouse model. 61
22466687 2012
35
Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model. 61
23209432 2012
36
[Hereditary spastic paraplegia in Japan]. 61
22277506 2011
37
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. 61
21107874 2011
38
A hereditary spastic paraplegia mutation in kinesin-1A/KIF5A disrupts neurofilament transport. 61
21087519 2010
39
[Japan spastic paraplegia research consortium (JASPAC)]. 61
21921516 2010
40
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. 61
18500496 2008
41
SPG10 is a rare cause of spastic paraplegia in European families. 61
18245137 2008
42
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 61
18364116 2008
43
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. 61
16682546 2006
44
Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia. 61
11354831 2001
45
The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate. 61
11334010 2001
46
Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. 61
10797436 2000
47
A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity. 61
10441583 1999
48
[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 148)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIF5A NM_004984.4(KIF5A):c.767A>G (p.Asn256Ser) SNV Pathogenic 6806 rs121434441 GRCh37: 12:57962798-57962798
GRCh38: 12:57569015-57569015
2 KIF5A NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys) SNV Pathogenic 6808 rs121434443 GRCh37: 12:57963046-57963046
GRCh38: 12:57569263-57569263
3 KIF5A NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln) SNV Pathogenic 37129 rs387907287 GRCh37: 12:57961298-57961298
GRCh38: 12:57567515-57567515
4 KIF5A NM_004984.4(KIF5A):c.839G>A (p.Arg280His) SNV Pathogenic 37130 rs387907288 GRCh37: 12:57963058-57963058
GRCh38: 12:57569275-57569275
5 KIF5A NM_004984.4(KIF5A):c.704G>A (p.Gly235Glu) SNV Pathogenic 37131 rs387907289 GRCh37: 12:57961391-57961391
GRCh38: 12:57567608-57567608
6 KIF5A NM_004984.4(KIF5A):c.694G>A (p.Asp232Asn) SNV Pathogenic 162100 rs690016545 GRCh37: 12:57961381-57961381
GRCh38: 12:57567598-57567598
7 KIF5A NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val) SNV Pathogenic 6809 rs121434444 GRCh37: 12:57963431-57963431
GRCh38: 12:57569648-57569648
8 KIF5A NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys) SNV Pathogenic 37128 rs387907286 GRCh37: 12:57970608-57970608
GRCh38: 12:57576825-57576825
9 KIF5A NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) SNV Pathogenic 6807 rs121434442 GRCh37: 12:57963057-57963057
GRCh38: 12:57569274-57569274
10 KIF5A NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys) SNV Pathogenic 37127 rs387907285 GRCh37: 12:57962782-57962782
GRCh38: 12:57568999-57568999
11 KIF5A NM_004984.4(KIF5A):c.698T>A (p.Leu233Gln) SNV Likely pathogenic 973760 GRCh37: 12:57961385-57961385
GRCh38: 12:57567602-57567602
12 KIF5A NM_004984.4(KIF5A):c.2868_2870del (p.Leu957del) Deletion Likely pathogenic 974686 GRCh37: 12:57975310-57975312
GRCh38: 12:57581527-57581529
13 KIF5A NM_004984.4(KIF5A):c.799T>C (p.Ser267Pro) SNV Likely pathogenic 430828 rs1131692233 GRCh37: 12:57962830-57962830
GRCh38: 12:57569047-57569047
14 KIF5A NM_004984.4(KIF5A):c.2119C>T (p.Arg707Trp) SNV Uncertain significance 634594 rs756646293 GRCh37: 12:57970082-57970082
GRCh38: 12:57576299-57576299
15 KIF5A NM_004984.4(KIF5A):c.1476G>A (p.Glu492=) SNV Uncertain significance 880711 GRCh37: 12:57965957-57965957
GRCh38: 12:57572174-57572174
16 KIF5A NM_004984.4(KIF5A):c.1570-3C>T SNV Uncertain significance 880712 GRCh37: 12:57966360-57966360
GRCh38: 12:57572577-57572577
17 KIF5A NM_004984.4(KIF5A):c.*326G>C SNV Uncertain significance 309957 rs150199729 GRCh37: 12:57978290-57978290
GRCh38: 12:57584507-57584507
18 KIF5A NM_004984.4(KIF5A):c.2838C>T (p.Tyr946=) SNV Uncertain significance 309947 rs781143696 GRCh37: 12:57975280-57975280
GRCh38: 12:57581497-57581497
19 ATL1 NM_001127713.1(ATL1):c.969G>C (p.Arg323=) SNV Uncertain significance 313302 rs753145983 GRCh37: 14:51087423-51087423
GRCh38: 14:50620705-50620705
20 KIF5A NM_004984.4(KIF5A):c.2478A>C (p.Gln826His) SNV Uncertain significance 309945 rs777903778 GRCh37: 12:57972065-57972065
GRCh38: 12:57578282-57578282
21 KIF5A NM_004984.4(KIF5A):c.*86C>G SNV Uncertain significance 880776 GRCh37: 12:57978050-57978050
GRCh38: 12:57584267-57584267
22 KIF5A NM_004984.4(KIF5A):c.*335T>G SNV Uncertain significance 880777 GRCh37: 12:57978299-57978299
GRCh38: 12:57584516-57584516
23 KIF5A NM_004984.4(KIF5A):c.-45C>T SNV Uncertain significance 882056 GRCh37: 12:57944010-57944010
GRCh38: 12:57550227-57550227
24 KIF5A NM_004984.4(KIF5A):c.291+5G>A SNV Uncertain significance 882059 GRCh37: 12:57957481-57957481
GRCh38: 12:57563698-57563698
25 KIF5A NM_004984.4(KIF5A):c.2300+7G>A SNV Uncertain significance 882111 GRCh37: 12:57970652-57970652
GRCh38: 12:57576869-57576869
26 KIF5A NM_004984.4(KIF5A):c.2433+10G>A SNV Uncertain significance 882112 GRCh37: 12:57971873-57971873
GRCh38: 12:57578090-57578090
27 KIF5A NM_004984.4(KIF5A):c.2953G>A (p.Gly985Ser) SNV Uncertain significance 884069 GRCh37: 12:57975696-57975696
GRCh38: 12:57581913-57581913
28 KIF5A NM_004984.4(KIF5A):c.*449C>T SNV Uncertain significance 882171 GRCh37: 12:57978413-57978413
GRCh38: 12:57584630-57584630
29 KIF5A NM_004984.4(KIF5A):c.502-15A>T SNV Uncertain significance 883203 GRCh37: 12:57960894-57960894
GRCh38: 12:57567111-57567111
30 KIF5A NM_004984.4(KIF5A):c.715-9C>A SNV Uncertain significance 883204 GRCh37: 12:57962737-57962737
GRCh38: 12:57568954-57568954
31 KIF5A NM_004984.4(KIF5A):c.818C>G (p.Thr273Ser) SNV Uncertain significance 883205 GRCh37: 12:57962849-57962849
GRCh38: 12:57569066-57569066
32 KIF5A NM_004984.4(KIF5A):c.2466G>C (p.Gly822=) SNV Uncertain significance 883256 GRCh37: 12:57972053-57972053
GRCh38: 12:57578270-57578270
33 KIF5A NM_004984.4(KIF5A):c.2672G>A (p.Arg891His) SNV Uncertain significance 648118 rs767911747 GRCh37: 12:57974872-57974872
GRCh38: 12:57581089-57581089
34 KIF5A NM_004984.4(KIF5A):c.890G>A (p.Arg297Gln) SNV Uncertain significance 884000 GRCh37: 12:57963109-57963109
GRCh38: 12:57569326-57569326
35 KIF5A NM_004984.4(KIF5A):c.*14C>T SNV Uncertain significance 884071 GRCh37: 12:57976976-57976976
GRCh38: 12:57583193-57583193
36 KIF5A NM_004984.4(KIF5A):c.126T>G (p.Ile42Met) SNV Uncertain significance 882057 GRCh37: 12:57944180-57944180
GRCh38: 12:57550397-57550397
37 KIF5A NM_004984.4(KIF5A):c.1710T>G (p.Ile570Met) SNV Uncertain significance 1029911 GRCh37: 12:57966503-57966503
GRCh38: 12:57572720-57572720
38 SPAST NM_014946.3(SPAST):c.*11T>C SNV Uncertain significance 335836 rs753913367 GRCh37: 2:32379576-32379576
GRCh38: 2:32154507-32154507
39 KIF5A NM_004984.4(KIF5A):c.3068T>G (p.Phe1023Cys) SNV Uncertain significance 309952 rs756348570 GRCh37: 12:57976931-57976931
GRCh38: 12:57583148-57583148
40 REEP1 NM_001371279.1(REEP1):c.*2022del Deletion Uncertain significance 337361 rs886056399 GRCh37: 2:86442140-86442140
GRCh38: 2:86215017-86215017
41 REEP1 NM_001371279.1(REEP1):c.*2015_*2016del Deletion Uncertain significance 337364 rs1553455537 GRCh37: 2:86442146-86442147
GRCh38: 2:86215023-86215024
42 REEP1 NM_001371279.1(REEP1):c.*1992del Deletion Uncertain significance 337367 rs886056404 GRCh37: 2:86442170-86442170
GRCh38: 2:86215047-86215047
43 WASHC5 NM_014846.4(WASHC5):c.3423+12_3423+15del Microsatellite Uncertain significance 361711 rs774994568 GRCh37: 8:126040847-126040850
GRCh38: 8:125028605-125028608
44 WASHC5 NM_014846.4(WASHC5):c.-124-17dup Duplication Uncertain significance 361738 rs886062656 GRCh37: 8:126096274-126096275
GRCh38: 8:125084032-125084033
45 HSPD1 NM_199440.2(HSPD1):c.-3+253C>G SNV Uncertain significance 333316 rs886055390 GRCh37: 2:198364631-198364631
GRCh38: 2:197499907-197499907
46 NIPA1 NM_001142275.1(NIPA1):c.-48+390G>A SNV Uncertain significance 315427 rs886051009 GRCh37: 15:23086430-23086430
GRCh38: 15:22786638-22786638
47 KIF5A NM_004984.4(KIF5A):c.968+12G>C SNV Uncertain significance 309936 rs536186088 GRCh37: 12:57963199-57963199
GRCh38: 12:57569416-57569416
48 KIF5A NM_004984.4(KIF5A):c.*170T>A SNV Uncertain significance 309955 rs761486570 GRCh37: 12:57978134-57978134
GRCh38: 12:57584351-57584351
49 KIF5A NM_004984.4(KIF5A):c.*435C>T SNV Uncertain significance 309961 rs886049704 GRCh37: 12:57978399-57978399
GRCh38: 12:57584616-57584616
50 KIF5A NM_004984.4(KIF5A):c.*326G>T SNV Uncertain significance 309958 rs150199729 GRCh37: 12:57978290-57978290
GRCh38: 12:57584507-57584507

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
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....