SPG10
MCID: SPS117
MIFTS: 49

Spastic Paraplegia 10, Autosomal Dominant (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, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 10, Autosomal Dominant:

Name: Spastic Paraplegia 10, Autosomal Dominant 57 72 13 70
Spg10 57 12 58 72 54
Hereditary Spastic Paraplegia 10 12 29 6 15
Autosomal Dominant Spastic Paraplegia Type 10 12 58
Spastic Paraplegia 10 with or Without Peripheral Neuropathy 57
Paraplegia, Spastic, Autosomal Dominant, Type 10 39
Autosomal Dominant Spastic Paraplegia 10 12

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant spastic paraplegia type 10
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
progressive disorder
variable age at onset, early childhood to adult


HPO:

31
spastic paraplegia 10, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spastic Paraplegia 10, Autosomal Dominant

OMIM® : 57 Spastic paraplegia-10 is an autosomal dominant neurologic disorder with variable manifestations. Some patients have onset of a 'pure' spastic paraplegia, with lower limb spasticity, hyperreflexia, extensor plantar responses, and variable involvement of the upper limbs beginning in childhood or young adulthood. Some patients show distal sensory impairment, which can be part of the 'pure' phenotype. However, some patients also show an axonal sensorimotor peripheral neuropathy with distal sensory impairment and distal muscle atrophy reminiscent of Charcot-Marie-Tooth disease type 2 (see, e.g., CMT2A, 118210). Rarely, patients with KIF5A mutations may have additional neurologic features, including parkinsonism or cognitive decline, consistent with a 'complicated' phenotype. Spastic paraplegia and peripheral neuropathy in isolation may represent extreme ends of the phenotypic spectrum of KIF5A mutations (summary by Goizet et al., 2009 and Crimella et al., 2012). (604187) (Updated 20-May-2021)

MalaCards based summary : Spastic Paraplegia 10, Autosomal Dominant, also known as spg10, is related to spasticity and neuropathy, and has symptoms including urgency of micturition An important gene associated with Spastic Paraplegia 10, Autosomal Dominant is KIF5A (Kinesin Family Member 5A), and among its related pathways/superpathways is Endocytosis. Affiliated tissues include eye, spinal cord and skin, and related phenotypes are lower limb spasticity and distal lower limb amyotrophy

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the KIF5A gene on chromosome 12q13.

UniProtKB/Swiss-Prot : 72 Spastic paraplegia 10, autosomal dominant: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.

Related Diseases for Spastic Paraplegia 10, Autosomal Dominant

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, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 spasticity 29.9 WASHC5 SPG7 SPAST KIF1A
2 neuropathy 29.8 ZFYVE26 SPG7 SPG11 KIF5A KIF1A ATL1
3 axonal neuropathy 29.6 ZFYVE26 SPG11 KIF5A KIF1A
4 paraplegia 27.0 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
5 hereditary spastic paraplegia 26.9 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
6 spastic paraplegia 10 11.4
7 spinal cord neuroblastoma 10.2 ZFYVE27 REEP1
8 spinal cord primitive neuroectodermal neoplasm 10.2 ZFYVE27 REEP1
9 neuropathy, hereditary sensory, type id 10.2 SPAST KIF5A ATL1
10 spastic paraplegia 7, autosomal recessive 10.2 SPG7 SPG11
11 spastic paraplegia 41, autosomal dominant 10.2 SPG21 SPAST KIF5A
12 spastic paraplegia 43, autosomal recessive 10.2 SPG11 SPAST ATL1
13 spastic paraplegia 73, autosomal dominant 10.1 SPG21 REEP1 ATL1
14 spastic paraplegia 63, autosomal recessive 10.1 SPG7 SPG21 SPG11
15 peripheral nervous system disease 10.1
16 charcot-marie-tooth disease, axonal, type 2r 10.1 ZFYVE26 SPG21
17 spastic ataxia 10.1 SPG7 SPG11 KIF1A
18 charcot-marie-tooth disease, axonal, type 2k 10.1 KIF5A KIF1A
19 spastic ataxia 2 10.1 REEP1 KIF5C KIF1A
20 complex hereditary spastic paraplegia 10.1 SPG7 SPG11 NIPA1
21 spastic paraplegia 64, autosomal recessive 10.1 ZFYVE26 SPG21 SPG11
22 spastic paraplegia 29, autosomal dominant 10.1 ZFYVE26 WASHC5 SPG21
23 spastic paraplegia 57, autosomal recessive 10.0 SPG11 REEP1 KIF5A KIF1A
24 spastic paraplegia 32, autosomal recessive 10.0 WASHC5 SPG7 SPG21 SPG11
25 charcot-marie-tooth disease, axonal, type 2t 10.0 ZFYVE26 SPG21
26 spastic paraparesis 10.0 SPG7 SPG11 SPAST KIF1A
27 spastic paraplegia 45, autosomal recessive 10.0 SPG21 SPG11 SPART
28 spastic paraplegia 25, autosomal recessive 10.0 ZFYVE26 WASHC5 SPG21 REEP1
29 spinal muscular atrophy, distal, autosomal recessive, 2 10.0 REEP1 BSCL2
30 spastic paraplegia 34, x-linked 10.0 ZFYVE26 WASHC5 SPG21 REEP1
31 spastic paraplegia 49, autosomal recessive 10.0 ZFYVE26 SPG7 SPG21 SPG11
32 spastic paraplegia 55, autosomal recessive 10.0 ZFYVE26 SPG7 SPG21 SPG11
33 spastic paraplegia, optic atrophy, and neuropathy 9.9 WASHC5 ATL1 AP5Z1
34 amyotrophic lateral sclerosis type 5 9.9 ZFYVE26 SPG11 AP5Z1
35 spastic paraplegia 5a, autosomal recessive 9.9 ZFYVE26 SPG7 SPG11 SPAST KIF5A
36 spastic paraplegia 14, autosomal recessive 9.9 SPG7 SPG21 SPG11 SPAST ATL1
37 spastic paraplegia 16, x-linked 9.9 WASHC5 SPG7 SPG21 SPG11 SPAST
38 spastic paraplegia 28, autosomal recessive 9.9 SPG7 SPG11 REEP1 AP5Z1
39 spastic paraplegia 37, autosomal dominant 9.9 ZFYVE26 SPG21 SPART REEP1
40 mast syndrome 9.9 ZFYVE27 SPG21 SPG11 SPART
41 amyotrophic lateral sclerosis 1 9.9
42 retinitis pigmentosa 9.9
43 branchiootic syndrome 1 9.9
44 parkinsonism 9.9
45 neuroretinitis 9.9
46 pseudobulbar palsy 9.9
47 polyneuropathy 9.9
48 lateral sclerosis 9.9
49 retinitis 9.9
50 spastic paraplegia 3a 9.9

Graphical network of the top 20 diseases related to Spastic Paraplegia 10, Autosomal Dominant:



Diseases related to Spastic Paraplegia 10, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 10, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 10, Autosomal Dominant:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lower limb spasticity 58 31 obligate (100%) Obligate (100%) HP:0002061
2 distal lower limb amyotrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008944
3 lower limb hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002395
4 rod-cone dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000510
5 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
6 distal sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002936
7 peripheral axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003477
8 urinary urgency 58 31 frequent (33%) Frequent (79-30%) HP:0000012
9 spastic/hyperactive bladder 58 31 frequent (33%) Frequent (79-30%) HP:0005340
10 lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0007340
11 leg muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0008969
12 impaired distal vibration sensation 58 31 frequent (33%) Frequent (79-30%) HP:0006886
13 hyperreflexia in upper limbs 58 31 frequent (33%) Frequent (79-30%) HP:0007350
14 spastic paraparetic gait 58 31 frequent (33%) Frequent (79-30%) HP:0031958
15 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
16 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
17 varicose veins 58 31 occasional (7.5%) Occasional (29-5%) HP:0002619
18 dupuytren contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0005679
19 parkinsonism 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001300
20 sensorimotor neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007141
21 upper limb amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009129
22 progressive pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0008075
23 ataxia 31 occasional (7.5%) HP:0001251
24 scoliosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002650
25 hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000365
26 cognitive impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0100543
27 ankle clonus 58 31 very rare (1%) Very rare (<4-1%) HP:0011448
28 upper limb spasticity 58 31 very rare (1%) Very rare (<4-1%) HP:0006986
29 hyperreflexia 31 HP:0001347
30 pes cavus 31 HP:0001761
31 spastic paraplegia 31 HP:0001258
32 upper motor neuron dysfunction 58 Frequent (79-30%)
33 urinary incontinence 31 HP:0000020
34 spastic gait 31 HP:0002064
35 urinary bladder sphincter dysfunction 31 HP:0002839
36 impaired vibration sensation in the lower limbs 31 HP:0002166
37 knee clonus 31 HP:0011449

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
spastic gait
extensor plantar responses
lower limb weakness
more
Skeletal Feet:
pes cavus

Genitourinary Bladder:
urinary incontinence
urinary urgency
sphincter disturbances

Skeletal Spine:
scoliosis

Neurologic Peripheral Nervous System:
distal sensory impairment
decreased vibratory sense in the lower limbs
axonal sensorimotor peripheral neuropathy
upper limb sensory loss may occur later

Muscle Soft Tissue:
amyotrophy of the lower limbs (in some patients)
amyotrophy of the upper limbs (in some patients)

Clinical features from OMIM®:

604187 (Updated 20-May-2021)

UMLS symptoms related to Spastic Paraplegia 10, Autosomal Dominant:


urgency of micturition

MGI Mouse Phenotypes related to Spastic Paraplegia 10, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 AP5Z1 ATL1 BSCL2 KIF1A KIF5A REEP1
2 cellular MP:0005384 9.65 AP5Z1 BSCL2 KIF5A KIF5C REEP1 RTN2
3 nervous system MP:0003631 9.4 AP5Z1 BSCL2 KIF1A KIF5A KIF5C REEP1

Drugs & Therapeutics for Spastic Paraplegia 10, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 10, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 10, Autosomal Dominant

Genetic tests related to Spastic Paraplegia 10, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Hereditary Spastic Paraplegia 10 29 KIF5A

Anatomical Context for Spastic Paraplegia 10, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 10, Autosomal Dominant:

40
Eye, Spinal Cord, Skin

Publications for Spastic Paraplegia 10, Autosomal Dominant

Articles related to Spastic Paraplegia 10, Autosomal Dominant:

(show all 46)
# Title Authors PMID Year
1
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. 57 54 6 61
18853458 2009
2
Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia. 61 6 54 57
16489470 2006
3
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. 54 61 6 57
15452312 2004
4
Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2. 57 6 61
21623771 2012
5
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). 61 6 57
12355402 2002
6
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. 57 6
25008398 2014
7
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia. 6 57
16476820 2006
8
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity. 6 54 61
18203753 2008
9
Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10. 61 57
25352184 2015
10
The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate. 61 57
11334010 2001
11
A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity. 57 61
10441583 1999
12
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. 57
8649538 1996
13
Altered CSF levels of monoamines in hereditary spastic paraparesis 10: A case series. 61
31403080 2019
14
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes. 61
30778698 2019
15
Going Too Far Is the Same as Falling Short†: Kinesin-3 Family Members in Hereditary Spastic Paraplegia. 61
31616253 2019
16
A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome. 61
30583522 2018
17
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
18
A novel KIF5A gene variant causes spastic paraplegia and cerebellar ataxia. 61
30480035 2018
19
JASPAC: Japan Spastic Paraplegia Research Consortium. 61
30104498 2018
20
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. 61
29566793 2018
21
KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy. 61
27414745 2017
22
A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss. 61
28382308 2017
23
Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis. 61
27084214 2016
24
Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy. 61
26403765 2015
25
A novel mutation in motor domain of KIF5A associated with an HSP/axonal neuropathy phenotype. 61
25695920 2015
26
[Japan Spastic Paraplegia Research Consortium (JASPAC)]. 61
25296875 2014
27
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness. 61
24939576 2014
28
Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia. 61
24668814 2014
29
Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany. 61
24731568 2014
30
[Hereditary spastic paraplegia: up to date]. 61
25519960 2014
31
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
32
Role of kinesin-1 in the pathogenesis of SPG10, a rare form of hereditary spastic paraplegia. 61
22785106 2013
33
Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality. 61
22788249 2013
34
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
35
Axonal transport deficit in a KIF5A( -/- ) mouse model. 61
22466687 2012
36
Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model. 61
23209432 2012
37
[Hereditary spastic paraplegia in Japan]. 61
22277506 2011
38
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. 61
21107874 2011
39
A hereditary spastic paraplegia mutation in kinesin-1A/KIF5A disrupts neurofilament transport. 61
21087519 2010
40
[Japan spastic paraplegia research consortium (JASPAC)]. 61
21921516 2010
41
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. 61
18500496 2008
42
SPG10 is a rare cause of spastic paraplegia in European families. 61
18245137 2008
43
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 61
18364116 2008
44
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. 61
16682546 2006
45
Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia. 61
11354831 2001
46
Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. 61
10797436 2000

Variations for Spastic Paraplegia 10, Autosomal Dominant

ClinVar genetic disease variations for Spastic Paraplegia 10, Autosomal Dominant:

6 (show top 50) (show all 83)
# 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.838C>T (p.Arg280Cys) SNV Pathogenic 6807 rs121434442 GRCh37: 12:57963057-57963057
GRCh38: 12:57569274-57569274
3 KIF5A NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys) SNV Pathogenic 6808 rs121434443 GRCh37: 12:57963046-57963046
GRCh38: 12:57569263-57569263
4 KIF5A NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val) SNV Pathogenic 6809 rs121434444 GRCh37: 12:57963431-57963431
GRCh38: 12:57569648-57569648
5 KIF5A NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys) SNV Pathogenic 37127 rs387907285 GRCh37: 12:57962782-57962782
GRCh38: 12:57568999-57568999
6 KIF5A NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys) SNV Pathogenic 37128 rs387907286 GRCh37: 12:57970608-57970608
GRCh38: 12:57576825-57576825
7 KIF5A NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln) SNV Pathogenic 37129 rs387907287 GRCh37: 12:57961298-57961298
GRCh38: 12:57567515-57567515
8 KIF5A NM_004984.4(KIF5A):c.839G>A (p.Arg280His) SNV Pathogenic 37130 rs387907288 GRCh37: 12:57963058-57963058
GRCh38: 12:57569275-57569275
9 KIF5A NM_004984.4(KIF5A):c.704G>A (p.Gly235Glu) SNV Pathogenic 37131 rs387907289 GRCh37: 12:57961391-57961391
GRCh38: 12:57567608-57567608
10 KIF5A NM_004984.4(KIF5A):c.694G>A (p.Asp232Asn) SNV Pathogenic 162100 rs690016545 GRCh37: 12:57961381-57961381
GRCh38: 12:57567598-57567598
11 KIF5A NM_004984.4(KIF5A):c.799T>C (p.Ser267Pro) SNV Likely pathogenic 430828 rs1131692233 GRCh37: 12:57962830-57962830
GRCh38: 12:57569047-57569047
12 KIF5A NM_004984.4(KIF5A):c.698T>A (p.Leu233Gln) SNV Likely pathogenic 973760 GRCh37: 12:57961385-57961385
GRCh38: 12:57567602-57567602
13 KIF5A NM_004984.4(KIF5A):c.2868_2870del (p.Leu957del) Deletion Likely pathogenic 974686 GRCh37: 12:57975310-57975312
GRCh38: 12:57581527-57581529
14 KIF5A NM_004984.4(KIF5A):c.1710T>G (p.Ile570Met) SNV Uncertain significance 1029911 GRCh37: 12:57966503-57966503
GRCh38: 12:57572720-57572720
15 KIF5A NM_004984.4(KIF5A):c.2953G>A (p.Gly985Ser) SNV Uncertain significance 884069 GRCh37: 12:57975696-57975696
GRCh38: 12:57581913-57581913
16 KIF5A NM_004984.4(KIF5A):c.2433+10G>A SNV Uncertain significance 882112 GRCh37: 12:57971873-57971873
GRCh38: 12:57578090-57578090
17 KIF5A NM_004984.4(KIF5A):c.890G>A (p.Arg297Gln) SNV Uncertain significance 884000 GRCh37: 12:57963109-57963109
GRCh38: 12:57569326-57569326
18 KIF5A NM_004984.4(KIF5A):c.2478A>C (p.Gln826His) SNV Uncertain significance 309945 rs777903778 GRCh37: 12:57972065-57972065
GRCh38: 12:57578282-57578282
19 KIF5A NM_004984.4(KIF5A):c.291+5G>A SNV Uncertain significance 882059 GRCh37: 12:57957481-57957481
GRCh38: 12:57563698-57563698
20 KIF5A NM_004984.4(KIF5A):c.2300+7G>A SNV Uncertain significance 882111 GRCh37: 12:57970652-57970652
GRCh38: 12:57576869-57576869
21 KIF5A NM_004984.4(KIF5A):c.*449C>T SNV Uncertain significance 882171 GRCh37: 12:57978413-57978413
GRCh38: 12:57584630-57584630
22 KIF5A NM_004984.4(KIF5A):c.502-15A>T SNV Uncertain significance 883203 GRCh37: 12:57960894-57960894
GRCh38: 12:57567111-57567111
23 KIF5A NM_004984.4(KIF5A):c.715-9C>A SNV Uncertain significance 883204 GRCh37: 12:57962737-57962737
GRCh38: 12:57568954-57568954
24 KIF5A NM_004984.4(KIF5A):c.818C>G (p.Thr273Ser) SNV Uncertain significance 883205 GRCh37: 12:57962849-57962849
GRCh38: 12:57569066-57569066
25 KIF5A NM_004984.4(KIF5A):c.2466G>C (p.Gly822=) SNV Uncertain significance 883256 GRCh37: 12:57972053-57972053
GRCh38: 12:57578270-57578270
26 KIF5A NM_004984.4(KIF5A):c.2672G>A (p.Arg891His) SNV Uncertain significance 648118 rs767911747 GRCh37: 12:57974872-57974872
GRCh38: 12:57581089-57581089
27 KIF5A NM_004984.4(KIF5A):c.*326G>C SNV Uncertain significance 309957 rs150199729 GRCh37: 12:57978290-57978290
GRCh38: 12:57584507-57584507
28 KIF5A NM_004984.4(KIF5A):c.2838C>T (p.Tyr946=) SNV Uncertain significance 309947 rs781143696 GRCh37: 12:57975280-57975280
GRCh38: 12:57581497-57581497
29 KIF5A NM_004984.4(KIF5A):c.2119C>T (p.Arg707Trp) SNV Uncertain significance 634594 rs756646293 GRCh37: 12:57970082-57970082
GRCh38: 12:57576299-57576299
30 KIF5A NM_004984.4(KIF5A):c.1476G>A (p.Glu492=) SNV Uncertain significance 880711 GRCh37: 12:57965957-57965957
GRCh38: 12:57572174-57572174
31 KIF5A NM_004984.4(KIF5A):c.1570-3C>T SNV Uncertain significance 880712 GRCh37: 12:57966360-57966360
GRCh38: 12:57572577-57572577
32 KIF5A NM_004984.4(KIF5A):c.*86C>G SNV Uncertain significance 880776 GRCh37: 12:57978050-57978050
GRCh38: 12:57584267-57584267
33 KIF5A NM_004984.4(KIF5A):c.*335T>G SNV Uncertain significance 880777 GRCh37: 12:57978299-57978299
GRCh38: 12:57584516-57584516
34 KIF5A NM_004984.4(KIF5A):c.-45C>T SNV Uncertain significance 882056 GRCh37: 12:57944010-57944010
GRCh38: 12:57550227-57550227
35 KIF5A NM_004984.4(KIF5A):c.126T>G (p.Ile42Met) SNV Uncertain significance 882057 GRCh37: 12:57944180-57944180
GRCh38: 12:57550397-57550397
36 KIF5A NM_004984.4(KIF5A):c.3068T>G (p.Phe1023Cys) SNV Uncertain significance 309952 rs756348570 GRCh37: 12:57976931-57976931
GRCh38: 12:57583148-57583148
37 KIF5A NM_004984.4(KIF5A):c.968+12G>C SNV Uncertain significance 309936 rs536186088 GRCh37: 12:57963199-57963199
GRCh38: 12:57569416-57569416
38 KIF5A NM_004984.4(KIF5A):c.*170T>A SNV Uncertain significance 309955 rs761486570 GRCh37: 12:57978134-57978134
GRCh38: 12:57584351-57584351
39 KIF5A NM_004984.4(KIF5A):c.*435C>T SNV Uncertain significance 309961 rs886049704 GRCh37: 12:57978399-57978399
GRCh38: 12:57584616-57584616
40 KIF5A NM_004984.4(KIF5A):c.*326G>T SNV Uncertain significance 309958 rs150199729 GRCh37: 12:57978290-57978290
GRCh38: 12:57584507-57584507
41 KIF5A NM_004984.4(KIF5A):c.1079T>C (p.Ile360Thr) SNV Uncertain significance 309937 rs886049700 GRCh37: 12:57963428-57963428
GRCh38: 12:57569645-57569645
42 KIF5A NM_004984.4(KIF5A):c.396+13C>T SNV Uncertain significance 309932 rs377008480 GRCh37: 12:57958008-57958008
GRCh38: 12:57564225-57564225
43 KIF5A NM_004984.4(KIF5A):c.*317C>T SNV Uncertain significance 309956 rs886049701 GRCh37: 12:57978281-57978281
GRCh38: 12:57584498-57584498
44 KIF5A NM_004984.4(KIF5A):c.2271C>T (p.His757=) SNV Uncertain significance 309943 rs374554951 GRCh37: 12:57970616-57970616
GRCh38: 12:57576833-57576833
45 KIF5A NM_004984.4(KIF5A):c.292-14C>A SNV Uncertain significance 309930 rs778921032 GRCh37: 12:57957877-57957877
GRCh38: 12:57564094-57564094
46 KIF5A NM_004984.4(KIF5A):c.*492A>T SNV Uncertain significance 309962 rs886049705 GRCh37: 12:57978456-57978456
GRCh38: 12:57584673-57584673
47 KIF5A NM_004984.4(KIF5A):c.2994A>G (p.Gly998=) SNV Uncertain significance 309951 rs750415265 GRCh37: 12:57976386-57976386
GRCh38: 12:57582603-57582603
48 KIF5A NM_004984.4(KIF5A):c.*14C>T SNV Uncertain significance 884071 GRCh37: 12:57976976-57976976
GRCh38: 12:57583193-57583193
49 KIF5A NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr) SNV Likely benign 309949 rs746095110 GRCh37: 12:57975323-57975323
GRCh38: 12:57581540-57581540
50 KIF5A NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) SNV Likely benign 240085 rs140929639 GRCh37: 12:57963454-57963454
GRCh38: 12:57569671-57569671

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 10, Autosomal Dominant:

72 (show all 13)
# Symbol AA change Variation ID SNP ID
1 KIF5A p.Asn256Ser VAR_032842 rs121434441
2 KIF5A p.Arg280Cys VAR_032843 rs121434442
3 KIF5A p.Ala361Val VAR_032844 rs121434444
4 KIF5A p.Tyr276Cys VAR_033108 rs121434443
5 KIF5A p.Lys253Asn VAR_046744
6 KIF5A p.Tyr63Cys VAR_058741
7 KIF5A p.Met198Thr VAR_058742
8 KIF5A p.Arg204Gln VAR_058743 rs387907287
9 KIF5A p.Glu251Lys VAR_058744 rs387907285
10 KIF5A p.Lys257Asn VAR_058746
11 KIF5A p.Arg280His VAR_058747 rs387907288
12 KIF5A p.Arg280Leu VAR_058748
13 KIF5A p.Ser203Cys VAR_066616

Expression for Spastic Paraplegia 10, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 10, Autosomal Dominant.

Pathways for Spastic Paraplegia 10, Autosomal Dominant

Pathways related to Spastic Paraplegia 10, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.5 ZFYVE27 WASHC5 SPG21 SPART KIF5C KIF5A

GO Terms for Spastic Paraplegia 10, Autosomal Dominant

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.25 ZFYVE27 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
2 endoplasmic reticulum GO:0005783 9.95 ZFYVE27 WASHC5 SPAST RTN2 REEP1 BSCL2
3 endosome GO:0005768 9.89 ZFYVE27 WASHC5 SPG21 SPAST NIPA1
4 endoplasmic reticulum membrane GO:0005789 9.85 ZFYVE27 SPAST RTN2 REEP1 BSCL2 ATL1
5 neuron projection GO:0043005 9.84 WASHC5 KIF5C KIF5A KIF1A
6 axon GO:0030424 9.83 ZFYVE27 SPG11 KIF1A ATL1
7 neuronal cell body GO:0043025 9.81 WASHC5 KIF5C KIF5A KIF1A
8 microtubule GO:0005874 9.78 SPAST KIF5C KIF5A KIF1A
9 midbody GO:0030496 9.72 ZFYVE26 SPAST SPART
10 integral component of endoplasmic reticulum membrane GO:0030176 9.63 ZFYVE27 RTN2 BSCL2
11 lipid droplet GO:0005811 9.5 SPAST SPART BSCL2
12 axon cytoplasm GO:1904115 9.35 SPG7 SPAST KIF5C KIF5A KIF1A
13 kinesin complex GO:0005871 9.33 KIF5C KIF5A KIF1A
14 ciliary rootlet GO:0035253 9.26 KIF5C KIF5A
15 endoplasmic reticulum tubular network GO:0071782 8.92 ZFYVE27 SPAST REEP1 ATL1

Biological processes related to Spastic Paraplegia 10, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule-based movement GO:0007018 9.58 KIF5C KIF5A KIF1A
2 lipid droplet organization GO:0034389 9.43 SPART BSCL2
3 anterograde axonal protein transport GO:0099641 9.37 KIF5C KIF5A
4 anterograde axonal transport GO:0008089 9.33 SPG7 SPAST KIF1A
5 retrograde neuronal dense core vesicle transport GO:1990049 9.32 KIF5A KIF1A
6 anterograde dendritic transport of neurotransmitter receptor complex GO:0098971 9.26 KIF5C KIF5A
7 cytoskeleton-dependent intracellular transport GO:0030705 9.13 KIF5C KIF5A KIF1A
8 synaptic vesicle transport GO:0048489 8.8 SPG11 KIF5C KIF5A

Molecular functions related to Spastic Paraplegia 10, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.21 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
2 microtubule binding GO:0008017 9.55 SPAST REEP1 KIF5C KIF5A KIF1A
3 microtubule motor activity GO:0003777 9.5 KIF5C KIF5A KIF1A
4 ATPase activity GO:0016887 9.35 SPG7 SPAST KIF5C KIF5A KIF1A
5 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 8.8 KIF5C KIF5A KIF1A

Sources for Spastic Paraplegia 10, Autosomal Dominant

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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