SPG4
MCID: SPS147
MIFTS: 46

Spastic Paraplegia 4, Autosomal Dominant (SPG4)

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

Aliases & Classifications for Spastic Paraplegia 4, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 4, Autosomal Dominant:

Name: Spastic Paraplegia 4, Autosomal Dominant 58 76 30 13 6 74
Spg4 58 12 60 76
Autosomal Dominant Spastic Paraplegia Type 4 12 60
Hereditary Spastic Paraplegia 4 12 15
Fsp2 58 76
Familial Spastic Paraplegia, Autosomal Dominant, 2; Fsp2 58
Familial Spastic Paraplegia, Autosomal Dominant, 2 58
Familial Spastic Paraplegia Autosomal Dominant 2 76
Paraplegia, Spastic, Autosomal Dominant, Type 4 41
Autosomal Dominant Spastic Paraplegia 4 12

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant spastic paraplegia type 4
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
genetic anticipation
insidious onset
highly variable severity
variable age of onset (infancy to 63 years)
most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases)
genetic heterogeneity, see spg3a


HPO:

33
spastic paraplegia 4, autosomal dominant:
Onset and clinical course variable expressivity insidious onset progressive
Inheritance genetic anticipation autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spastic Paraplegia 4, Autosomal Dominant

OMIM : 58 The hereditary spastic paraplegias (SPG, HSP) are a group of clinically and genetically diverse inherited disorders characterized predominantly by progressive lower extremity spasticity and weakness. SPG is classified by mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and whether the primary symptoms occur in isolation ('uncomplicated') or with other neurologic abnormalities ('complicated'). Pure SPG4 is the most common form of autosomal dominant hereditary SPG, comprising up to 45% of cases (Svenson et al., 2001; Crippa et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600). (182601)

MalaCards based summary : Spastic Paraplegia 4, Autosomal Dominant, also known as spg4, is related to spastic paraparesis and spastic paraplegia 10, and has symptoms including abnormal pyramidal signs, agitation and low back pain. An important gene associated with Spastic Paraplegia 4, Autosomal Dominant is SPAST (Spastin). The drug Metronidazole has been mentioned in the context of this disorder. Related phenotypes are babinski sign and lower limb muscle weakness

Disease Ontology : 12 A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has material basis in mutation in the SPAST gene on chromosome 2p22.

UniProtKB/Swiss-Prot : 76 Spastic paraplegia 4, 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 4, 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 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 Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
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 4, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 spastic paraparesis 30.5 SPAST SPG11 SPG7
2 spastic paraplegia 10 30.3 KIF5A SPAST
3 paraplegia 28.1 ATL1 ERLIN2 KIF5A NIPA1 REEP1 RTN2
4 hereditary spastic paraplegia 28.0 ATL1 ERLIN2 KIF5A NIPA1 REEP1 RTN2
5 spastic paraplegia 4 11.4
6 primary lateral sclerosis, adult, 1 10.2 SPAST SPG7
7 spastic paraplegia 15, autosomal recessive 10.1 SPG11 SPG7
8 spastic paraplegia 17, autosomal dominant 10.1
9 spastic paraplegia 49, autosomal recessive 10.1 SPG11 SPG7
10 spastic paraplegia 11, autosomal recessive 10.0 SPG11 SPG7
11 spasticity 10.0 SPAST SPG7
12 spastic paraplegia 32, autosomal recessive 10.0 ATL1 SPG11 SPG7
13 machado-joseph disease 9.9
14 multiple sclerosis 9.9
15 cognitive function 1, social 9.9
16 aceruloplasminemia 9.9
17 dementia 9.9
18 epilepsy 9.9
19 peripheral nervous system disease 9.9
20 neuropathy 9.9
21 arachnoid cysts 9.9
22 mosaic trisomy 5 9.9
23 spastic paraplegia 33, autosomal dominant 9.9 REEP1 RTN2 SPAST
24 spastic paraplegia 2, x-linked 9.9 ATL1 REEP1 RTN2
25 spastic paraplegia 47, autosomal recessive 9.9 ERLIN2 REEP1
26 spastic paraplegia 48, autosomal recessive 9.9 ERLIN2 SPG11
27 spastic paraplegia 39, autosomal recessive 9.9 ERLIN2 REEP1
28 spastic paraplegia 30, autosomal recessive 9.9 ERLIN2 REEP1
29 spastic paraplegia 35, autosomal recessive 9.9 ERLIN2 SPG11
30 spastic paraplegia 13, autosomal dominant 9.8 ATL1 ERLIN2 SPAST
31 spastic paraplegia 61, autosomal recessive 9.8 ATL1 REEP1 RTN2 SPAST
32 amyotrophic lateral sclerosis 1 9.7 SLC33A1 SPAST SPG11
33 axonal neuropathy 9.7 KIF5A SPG11
34 spastic paraplegia 18, autosomal recessive 9.7 ERLIN2 NIPA1 REEP1
35 masa syndrome 9.6 ATL1 NIPA1 REEP1 SPAST SPG11
36 spastic paraplegia 31, autosomal dominant 9.6 ATL1 REEP1 RTN2 SPAST SPG11
37 spastic paraplegia 10, autosomal dominant 9.4 ATL1 KIF5A REEP1 RTN2 SPG11
38 spastic paraplegia 42, autosomal dominant 9.4 ERLIN2 NIPA1 REEP1 SLC33A1
39 spastic paraplegia 3, autosomal dominant 9.3 ATL1 NIPA1 REEP1 RTN2 SPAST SPG11
40 spastic paraplegia 8, autosomal dominant 9.3 ATL1 ERLIN2 NIPA1 REEP1 SPG11
41 spastic paraplegia 12, autosomal dominant 9.0 ATL1 ERLIN2 KIF5A REEP1 RTN2 SPAST
42 spastic paraplegia 6, autosomal dominant 8.7 ATL1 ERLIN2 KIF5A NIPA1 REEP1 SLC33A1

Graphical network of the top 20 diseases related to Spastic Paraplegia 4, Autosomal Dominant:



Diseases related to Spastic Paraplegia 4, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 4, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 4, Autosomal Dominant:

60 33 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487
2 lower limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0007340
3 brisk reflexes 60 33 frequent (33%) Frequent (79-30%) HP:0001348
4 lower limb spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0002061
5 ankle clonus 60 33 frequent (33%) Frequent (79-30%) HP:0011448
6 urinary urgency 60 33 frequent (33%) Frequent (79-30%) HP:0000012
7 leg muscle stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0008969
8 impaired vibration sensation at ankles 60 33 frequent (33%) Frequent (79-30%) HP:0006938
9 functional motor deficit 33 frequent (33%) HP:0004302
10 dysarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001260
11 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
12 pes cavus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001761
13 urinary bladder sphincter dysfunction 60 33 occasional (7.5%) Occasional (29-5%) HP:0002839
14 hyperreflexia in upper limbs 60 33 occasional (7.5%) Occasional (29-5%) HP:0007350
15 distal amyotrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003693
16 intellectual disability 60 33 very rare (1%) Very rare (<4-1%) HP:0001249
17 seizures 60 33 very rare (1%) Very rare (<4-1%) HP:0001250
18 ataxia 60 33 very rare (1%) Very rare (<4-1%) HP:0001251
19 nystagmus 33 HP:0000639
20 depressivity 33 HP:0000716
21 spasticity 60 Frequent (79-30%)
22 hyperreflexia 33 HP:0001347
23 memory impairment 33 HP:0002354
24 aggressive behavior 33 HP:0000718
25 agitation 33 HP:0000713
26 dementia 33 HP:0000726
27 spastic paraplegia 33 HP:0001258
28 impaired vibration sensation in the lower limbs 33 HP:0002166
29 degeneration of the lateral corticospinal tracts 33 HP:0002314
30 spastic gait 33 HP:0002064
31 urinary incontinence 33 HP:0000020
32 disinhibition 33 HP:0000734
33 apathy 33 HP:0000741
34 functional motor problems 60 Frequent (79-30%)
35 paraplegia 33 HP:0010550
36 low back pain 33 HP:0003419

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hyperreflexia
memory impairment
lower limb spasticity
degeneration of the lateral corticospinal tracts
spastic gait
more
Genitourinary Bladder:
urinary urgency
urinary incontinence
sphincter disturbances

Skeletal Spine:
lower back pain

Neurologic Behavioral Psychiatric Manifestations:
agitation
disinhibition
apathy
depression
aggression

Head And Neck Eyes:
nystagmus (rare)

Neurologic Peripheral Nervous System:
decreased vibratory sense in the lower limbs

Clinical features from OMIM:

182601

UMLS symptoms related to Spastic Paraplegia 4, Autosomal Dominant:


abnormal pyramidal signs, agitation, low back pain, urgency of micturition

MGI Mouse Phenotypes related to Spastic Paraplegia 4, Autosomal Dominant:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.17 ATL1 KIF5A REEP1 SLC33A1 SPAST SPG11

Drugs & Therapeutics for Spastic Paraplegia 4, Autosomal Dominant

Drugs for Spastic Paraplegia 4, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metronidazole Approved Not Applicable 443-48-1 4173

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Studying Cognition in SPG4 Completed NCT03104088
2 The Effect of Virtual Simulation Training in Mastoidectomy Completed NCT02030873 Not Applicable
3 Preoperative Pain, Function, and Activity for Total Hip and Knee Arthroplasty Patients Completed NCT01248039
4 The Pre-SPG4 Study Recruiting NCT03206190 Not Applicable
5 Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31 Recruiting NCT02859428
6 Studying Non-motor Symptoms in HSP Recruiting NCT03204773

Search NIH Clinical Center for Spastic Paraplegia 4, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 4, Autosomal Dominant

Genetic tests related to Spastic Paraplegia 4, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 4, Autosomal Dominant 30 SPAST

Anatomical Context for Spastic Paraplegia 4, Autosomal Dominant

Publications for Spastic Paraplegia 4, Autosomal Dominant

Articles related to Spastic Paraplegia 4, Autosomal Dominant:

# Title Authors Year
1
MiR-33a is a therapeutic target in SPG4-related hereditary spastic paraplegia human neurons. ( 30777884 )
2019
2
Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia. ( 26837615 )
2016
3
Multimodal MRI-based study in patients with SPG4 mutations. ( 25658484 )
2015
4
Spin labeling artery method perfusion MRI study of SPG4 and SCA3/MJD. ( 25172988 )
2014
5
SPG4 gene promoter regulation via Elk1 transcription factor. ( 21395583 )
2011
6
Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant. ( 19694023 )
2009
7
There might be more to SPG4! ( 19289473 )
2009
8
Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation. ( 10987648 )
1999
9
Transcript map of the chromosome 2-linked autosomal dominant spastic paraplegia (SPG4) critical region and identification of a highly informative STRP. ( 9933304 )
1998

Variations for Spastic Paraplegia 4, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 4, Autosomal Dominant:

76 (show top 50) (show all 77)
# Symbol AA change Variation ID SNP ID
1 SPAST p.Ser362Cys VAR_010195 rs121908509
2 SPAST p.Arg424Gly VAR_010196
3 SPAST p.Cys448Tyr VAR_010197 rs121908510
4 SPAST p.Arg499Cys VAR_010198 rs121908511
5 SPAST p.Asp584His VAR_010199
6 SPAST p.Leu378Gln VAR_019439
7 SPAST p.Asn386Ser VAR_019440 rs121908514
8 SPAST p.Met390Val VAR_019441 rs797044850
9 SPAST p.Arg503Leu VAR_019442
10 SPAST p.Leu534Pro VAR_019444
11 SPAST p.Thr614Ile VAR_019445
12 SPAST p.Ile344Lys VAR_019448 rs121908513
13 SPAST p.Ser407Arg VAR_019450
14 SPAST p.Ala551Tyr VAR_019451
15 SPAST p.Thr615Ile VAR_019452
16 SPAST p.Leu195Val VAR_026758
17 SPAST p.Ile406Val VAR_026759 rs587777757
18 SPAST p.Asp493Gly VAR_026760
19 SPAST p.Arg499His VAR_026761 rs878854991
20 SPAST p.Arg503Trp VAR_026762 rs864622162
21 SPAST p.Trp607Cys VAR_026763
22 SPAST p.Gln347Lys VAR_027206
23 SPAST p.Pro361Leu VAR_027207
24 SPAST p.Gly370Arg VAR_027208
25 SPAST p.Phe381Cys VAR_027209
26 SPAST p.Asn386Lys VAR_027210
27 SPAST p.Lys388Arg VAR_027211
28 SPAST p.Ser399Leu VAR_027212
29 SPAST p.Leu426Val VAR_027213 rs106050222
30 SPAST p.Pro435Leu VAR_027214
31 SPAST p.Ser436Phe VAR_027215
32 SPAST p.Asp441Gly VAR_027216 rs121908512
33 SPAST p.Arg459Gly VAR_027217
34 SPAST p.Arg460Cys VAR_027218 rs878854990
35 SPAST p.Arg460Leu VAR_027219
36 SPAST p.Asp470Val VAR_027220 rs121908516
37 SPAST p.Ala485Val VAR_027221
38 SPAST p.Pro489Leu VAR_027222
39 SPAST p.Glu512Asp VAR_027223
40 SPAST p.Asp555Asn VAR_027224
41 SPAST p.Ala556Val VAR_027225
42 SPAST p.Gly559Asp VAR_027226 rs864622179
43 SPAST p.Arg562Gly VAR_027227 rs121908518
44 SPAST p.Arg562Gln VAR_027228 rs863224923
45 SPAST p.Ser413Leu VAR_067568
46 SPAST p.Glu454Lys VAR_067571
47 SPAST p.Arg460Ser VAR_067572
48 SPAST p.Pro293Leu VAR_067632 rs773193617
49 SPAST p.Arg364Thr VAR_067636
50 SPAST p.Leu378Arg VAR_067637

ClinVar genetic disease variations for Spastic Paraplegia 4, Autosomal Dominant:

6 (show top 50) (show all 402)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPAST NM_014946.3(SPAST): c.1414-1G> C single nucleotide variant Pathogenic rs786204163 GRCh37 Chromosome 2, 32362177: 32362177
2 SPAST NM_014946.3(SPAST): c.1165A> G (p.Thr389Ala) single nucleotide variant Pathogenic rs786204132 GRCh37 Chromosome 2, 32352083: 32352083
3 SPAST NM_014946.3(SPAST): c.1165A> G (p.Thr389Ala) single nucleotide variant Pathogenic rs786204132 GRCh38 Chromosome 2, 32127014: 32127014
4 SPAST NM_014946.3(SPAST): c.1291C> T (p.Arg431Ter) single nucleotide variant Pathogenic rs786204126 GRCh37 Chromosome 2, 32361677: 32361677
5 SPAST NM_014946.3(SPAST): c.1291C> T (p.Arg431Ter) single nucleotide variant Pathogenic rs786204126 GRCh38 Chromosome 2, 32136608: 32136608
6 SPAST NM_014946.3(SPAST): c.1414-1G> C single nucleotide variant Pathogenic rs786204163 GRCh38 Chromosome 2, 32137108: 32137108
7 SPAST NM_014946.3(SPAST): c.1637G> A (p.Gly546Glu) single nucleotide variant Uncertain significance rs786204057 GRCh38 Chromosome 2, 32144957: 32144957
8 SPAST NM_014946.3(SPAST): c.1637G> A (p.Gly546Glu) single nucleotide variant Uncertain significance rs786204057 GRCh37 Chromosome 2, 32370026: 32370026
9 SPAST NM_014946.3(SPAST): c.683-9C> T single nucleotide variant Benign/Likely benign rs202209866 GRCh37 Chromosome 2, 32339698: 32339698
10 SPAST NM_014946.3(SPAST): c.683-9C> T single nucleotide variant Benign/Likely benign rs202209866 GRCh38 Chromosome 2, 32114629: 32114629
11 SPAST NM_014946.3(SPAST): c.1168A> G (p.Met390Val) single nucleotide variant Pathogenic rs797044850 GRCh37 Chromosome 2, 32352086: 32352086
12 SPAST NM_014946.3(SPAST): c.1168A> G (p.Met390Val) single nucleotide variant Pathogenic rs797044850 GRCh38 Chromosome 2, 32127017: 32127017
13 SPAST NM_014946.3(SPAST): c.1735A> C (p.Asn579His) single nucleotide variant Uncertain significance rs144594804 GRCh37 Chromosome 2, 32379449: 32379449
14 SPAST NM_014946.3(SPAST): c.1735A> C (p.Asn579His) single nucleotide variant Uncertain significance rs144594804 GRCh38 Chromosome 2, 32154380: 32154380
15 SPAST NM_014946.3(SPAST): c.1813A> G (p.Ile605Val) single nucleotide variant Uncertain significance rs372900676 GRCh37 Chromosome 2, 32379527: 32379527
16 SPAST NM_014946.3(SPAST): c.1813A> G (p.Ile605Val) single nucleotide variant Uncertain significance rs372900676 GRCh38 Chromosome 2, 32154458: 32154458
17 SPAST NM_014946.3(SPAST): c.465delA (p.Glu155Aspfs) deletion Pathogenic rs863224514 GRCh38 Chromosome 2, 32087541: 32087541
18 SPAST NM_014946.3(SPAST): c.465delA (p.Glu155Aspfs) deletion Pathogenic rs863224514 GRCh37 Chromosome 2, 32312610: 32312610
19 SPAST NM_014946.3(SPAST): c.925delC (p.Arg309Valfs) deletion Pathogenic rs863224515 GRCh38 Chromosome 2, 32115756: 32115756
20 SPAST NM_014946.3(SPAST): c.925delC (p.Arg309Valfs) deletion Pathogenic rs863224515 GRCh37 Chromosome 2, 32340825: 32340825
21 SPAST NM_014946.3(SPAST): c.1245delC (p.Tyr415Terfs) deletion Pathogenic rs863224513 GRCh38 Chromosome 2, 32128479: 32128479
22 SPAST NM_014946.3(SPAST): c.1245delC (p.Tyr415Terfs) deletion Pathogenic rs863224513 GRCh37 Chromosome 2, 32353548: 32353548
23 SPAST NM_014946.3(SPAST): c.1363C> G (p.His455Asp) single nucleotide variant Uncertain significance rs863224769 GRCh37 Chromosome 2, 32361987: 32361987
24 SPAST NM_014946.3(SPAST): c.1363C> G (p.His455Asp) single nucleotide variant Uncertain significance rs863224769 GRCh38 Chromosome 2, 32136918: 32136918
25 SPAST NM_014946.3(SPAST): c.1417C> T (p.Gln473Ter) single nucleotide variant Pathogenic rs757130394 GRCh37 Chromosome 2, 32362181: 32362181
26 SPAST NM_014946.3(SPAST): c.1417C> T (p.Gln473Ter) single nucleotide variant Pathogenic rs757130394 GRCh38 Chromosome 2, 32137112: 32137112
27 SPAST NM_014946.3(SPAST): c.1625A> G (p.Asp542Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs142053576 GRCh37 Chromosome 2, 32370014: 32370014
28 SPAST NM_014946.3(SPAST): c.1625A> G (p.Asp542Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs142053576 GRCh38 Chromosome 2, 32144945: 32144945
29 SPAST NM_014946.3(SPAST): c.1685G> A (p.Arg562Gln) single nucleotide variant Pathogenic rs863224923 GRCh37 Chromosome 2, 32370074: 32370074
30 SPAST NM_014946.3(SPAST): c.1685G> A (p.Arg562Gln) single nucleotide variant Pathogenic rs863224923 GRCh38 Chromosome 2, 32145005: 32145005
31 SPAST NC_000002.12: g.32148610_32159376del10767 deletion Pathogenic GRCh37 Chromosome 2, 32373679: 32384445
32 SPAST NC_000002.12: g.32148610_32159376del10767 deletion Pathogenic GRCh38 Chromosome 2, 32148610: 32159376
33 SPAST NC_000002.12: g.32147726_32164528del16803 deletion Pathogenic GRCh37 Chromosome 2, 32372792: 32389594
34 SPAST NC_000002.12: g.32147726_32164528del16803 deletion Pathogenic GRCh38 Chromosome 2, 32147726: 32164528
35 SPAST NC_000002.12: g.32153843_32159343del5501 deletion Pathogenic GRCh37 Chromosome 2, 32378898: 32384398
36 SPAST NC_000002.12: g.32153843_32159343del5501 deletion Pathogenic GRCh38 Chromosome 2, 32153843: 32159343
37 SPAST NC_000002.12: g.32149358_32163762del14405 deletion Pathogenic GRCh37 Chromosome 2, 32374427: 32388831
38 SPAST NC_000002.12: g.32149358_32163762del14405 deletion Pathogenic GRCh38 Chromosome 2, 32149358: 32163762
39 SLC30A6; SPAST NC_000002.12: g.32153575_32178196del24622 deletion Pathogenic GRCh37 Chromosome 2, 32378643: 32403264
40 SLC30A6; SPAST NC_000002.12: g.32153575_32178196del24622 deletion Pathogenic GRCh38 Chromosome 2, 32153575: 32178196
41 SPAST NC_000002.12: g.32153490_32156211del2722 deletion Pathogenic GRCh37 Chromosome 2, 32378559: 32381280
42 SPAST NC_000002.12: g.32153490_32156211del2722 deletion Pathogenic GRCh38 Chromosome 2, 32153490: 32156211
43 SLC30A6; SPAST NC_000002.12: g.32153604_32171983del18380 deletion Pathogenic GRCh37 Chromosome 2, 32378673: 32397052
44 SLC30A6; SPAST NC_000002.12: g.32153604_32171983del18380 deletion Pathogenic GRCh38 Chromosome 2, 32153604: 32171983
45 SLC30A6; SPAST NC_000002.12: g.32147746_32173488del25743 deletion Pathogenic GRCh37 Chromosome 2, 32372815: 32398557
46 SLC30A6; SPAST NC_000002.12: g.32147746_32173488del25743 deletion Pathogenic GRCh38 Chromosome 2, 32147746: 32173488
47 SPAST NC_000002.11: g.32365580_32371821dup duplication Pathogenic GRCh37 Chromosome 2, 32365580: 32371821
48 BIRC6; NLRC4; SLC30A6; SPAST; TTC27; YIPF4 NC_000002.11: g.32327163_32886455del559293 deletion Pathogenic GRCh37 Chromosome 2, 32327163: 32886455
49 DPY30; SPAST NC_000002.12: g.32035374_32122619del87246 deletion Pathogenic GRCh37 Chromosome 2, 32260443: 32347688
50 DPY30; SPAST NC_000002.12: g.32035374_32122619del87246 deletion Pathogenic GRCh38 Chromosome 2, 32035374: 32122619

Expression for Spastic Paraplegia 4, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 4, Autosomal Dominant.

Pathways for Spastic Paraplegia 4, Autosomal Dominant

GO Terms for Spastic Paraplegia 4, Autosomal Dominant

Cellular components related to Spastic Paraplegia 4, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.92 ATL1 ERLIN2 NIPA1 REEP1 RTN2 SLC33A1
2 endoplasmic reticulum GO:0005783 9.63 ATL1 ERLIN2 REEP1 RTN2 SLC33A1 SPAST
3 endoplasmic reticulum tubular network GO:0071782 9.26 ATL1 REEP1
4 axon cytoplasm GO:1904115 9.13 KIF5A SPAST SPG7
5 endoplasmic reticulum membrane GO:0005789 9.1 ATL1 ERLIN2 REEP1 RTN2 SLC33A1 SPAST
6 membrane GO:0016020 10.02 ATL1 ERLIN2 KIF5A NIPA1 REEP1 RTN2

Biological processes related to Spastic Paraplegia 4, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axonogenesis GO:0007409 9.16 ATL1 SPAST
2 anterograde axonal transport GO:0008089 8.96 SPAST SPG7
3 synaptic vesicle transport GO:0048489 8.62 KIF5A SPG11

Molecular functions related to Spastic Paraplegia 4, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.8 KIF5A REEP1 SPAST

Sources for Spastic Paraplegia 4, Autosomal Dominant

3 CDC
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17 EFO
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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