SPG4
MCID: SPS147
MIFTS: 45

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 57 75 29 13 6 73
Spg4 57 12 59 75
Autosomal Dominant Spastic Paraplegia Type 4 12 59
Hereditary Spastic Paraplegia 4 12 15
Fsp2 57 75
Familial Spastic Paraplegia, Autosomal Dominant, 2; Fsp2 57
Familial Spastic Paraplegia, Autosomal Dominant, 2 57
Familial Spastic Paraplegia Autosomal Dominant 2 75
Paraplegia, Spastic, Autosomal Dominant, Type 4 40
Autosomal Dominant Spastic Paraplegia 4 12

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant spastic paraplegia type 4
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

57
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:

32
spastic paraplegia 4, autosomal dominant:
Onset and clinical course variable expressivity insidious onset progressive
Inheritance genetic anticipation autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 4, Autosomal Dominant

OMIM : 57 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 paraplegia, 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. Affiliated tissues include skin, bone and eye, and related phenotypes are intellectual disability and seizures

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 : 75 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 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 68
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
Autosomal Dominant Spastic Paraplegia Type 9

Diseases related to Spastic Paraplegia 4, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 spastic paraparesis 30.5 SPG7 SPG11 SPAST
2 paraplegia 29.2 ZFYVE27 SPG7 SPG11 SPAST SLC33A1 RTN2
3 hereditary spastic paraplegia 29.1 ZFYVE27 SPG7 SPG11 SPAST SLC33A1 RTN2
4 spastic paraplegia 4 11.3
5 primary lateral sclerosis, adult, 1 10.1 SPG7 SPAST
6 spastic paraplegia 17, autosomal dominant 10.1
7 spastic paraplegia 10 10.1
8 spastic paraplegia 15, autosomal recessive 10.1 SPG7 SPG11
9 spastic paraplegia 49, autosomal recessive 10.1 SPG7 SPG11
10 spastic paraplegia 47, autosomal recessive 10.0 REEP1 ERLIN2
11 spastic paraplegia 48, autosomal recessive 10.0 SPG11 ERLIN2
12 spastic paraplegia 11, autosomal recessive 10.0 SPG7 SPG11
13 spastic paraplegia 32, autosomal recessive 10.0 SPG7 SPG11 ATL1
14 spastic paraplegia 39, autosomal recessive 10.0 REEP1 ERLIN2
15 spastic paraplegia 44, autosomal recessive 10.0 ZFYVE27 SLC33A1
16 spasticity 10.0 SPG7 SPAST
17 spastic paraplegia 30, autosomal recessive 10.0 REEP1 ERLIN2
18 spastic paraplegia 35, autosomal recessive 10.0 SPG11 ERLIN2
19 spastic paraplegia 13, autosomal dominant 9.9 SPAST ERLIN2 ATL1
20 machado-joseph disease 9.9
21 multiple sclerosis 9.9
22 cognitive function 1, social 9.9
23 aceruloplasminemia 9.9
24 dementia 9.9
25 epilepsy 9.9
26 peripheral nervous system disease 9.9
27 neuropathy 9.9
28 arachnoid cysts 9.9
29 spastic paraplegia 18, autosomal recessive 9.9 REEP1 NIPA1 ERLIN2
30 masa syndrome 9.8 SPG11 SPAST REEP1 NIPA1 ATL1
31 amyotrophic lateral sclerosis 1 9.7 SPG11 SPAST SLC33A1
32 spastic paraplegia 61, autosomal recessive 9.7 SPAST RTN2 REEP1 ATL1
33 spastic paraplegia 42, autosomal dominant 9.7 SLC33A1 REEP1 NIPA1 ERLIN2
34 spastic paraplegia 33, autosomal dominant 9.7 ZFYVE27 SPAST RTN2 REEP1
35 spastic paraplegia 2, x-linked 9.6 ZFYVE27 RTN2 REEP1 ATL1
36 spastic paraplegia 8, autosomal dominant 9.6 SPG11 REEP1 NIPA1 ERLIN2 ATL1
37 spastic paraplegia 10, autosomal dominant 9.5 ZFYVE27 SPG11 RTN2 REEP1 ATL1
38 spastic paraplegia 6, autosomal dominant 9.5 SPAST SLC33A1 REEP1 NIPA1 ERLIN2 ATL1
39 spastic paraplegia 31, autosomal dominant 9.4 ZFYVE27 SPG11 SPAST RTN2 REEP1 ATL1
40 spastic paraplegia 12, autosomal dominant 9.3 ZFYVE27 SPAST RTN2 REEP1 ERLIN2 ATL1
41 spastic paraplegia 3, autosomal dominant 9.3 ZFYVE27 SPG11 SPAST RTN2 REEP1 NIPA1

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spastic Paraplegia 4, Autosomal Dominant:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 very rare (1%) Very rare (<4-1%) HP:0001249
2 seizures 59 32 very rare (1%) Very rare (<4-1%) HP:0001250
3 ataxia 59 32 very rare (1%) Very rare (<4-1%) HP:0001251
4 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
5 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
6 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
7 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
8 urinary bladder sphincter dysfunction 59 32 occasional (7.5%) Occasional (29-5%) HP:0002839
9 lower limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0007340
10 brisk reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001348
11 lower limb spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0002061
12 ankle clonus 59 32 frequent (33%) Frequent (79-30%) HP:0011448
13 urinary urgency 59 32 frequent (33%) Frequent (79-30%) HP:0000012
14 hyperreflexia in upper limbs 59 32 occasional (7.5%) Occasional (29-5%) HP:0007350
15 leg muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0008969
16 distal amyotrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003693
17 impaired vibration sensation at ankles 59 32 frequent (33%) Frequent (79-30%) HP:0006938
18 nystagmus 32 HP:0000639
19 depressivity 32 HP:0000716
20 spasticity 59 Frequent (79-30%)
21 hyperreflexia 32 HP:0001347
22 memory impairment 32 HP:0002354
23 aggressive behavior 32 HP:0000718
24 agitation 32 HP:0000713
25 dementia 32 HP:0000726
26 spastic paraplegia 32 HP:0001258
27 impaired vibration sensation in the lower limbs 32 HP:0002166
28 degeneration of the lateral corticospinal tracts 32 HP:0002314
29 spastic gait 32 HP:0002064
30 urinary incontinence 32 HP:0000020
31 disinhibition 32 HP:0000734
32 apathy 32 HP:0000741
33 functional motor problems 59 Frequent (79-30%)
34 paraplegia 32 HP:0010550
35 low back pain 32 HP:0003419
36 functional motor deficit 32 frequent (33%) HP:0004302

UMLS symptoms related to Spastic Paraplegia 4, Autosomal Dominant:


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

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 29 SPAST

Anatomical Context for Spastic Paraplegia 4, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 4, Autosomal Dominant:

41
Skin, Bone, Eye

Publications for Spastic Paraplegia 4, Autosomal Dominant

Articles related to Spastic Paraplegia 4, Autosomal Dominant:

(show all 13)
# Title Authors Year
1
Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia. ( 26837615 )
2016
2
Multimodal MRI-based study in patients with SPG4 mutations. ( 25658484 )
2015
3
Spin labeling artery method perfusion MRI study of SPG4 and SCA3/MJD. ( 25172988 )
2014
4
SPG4 gene promoter regulation via Elk1 transcription factor. ( 21395583 )
2011
5
There might be more to SPG4! ( 19289473 )
2009
6
Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant. ( 19694023 )
2009
7
Gene symbol: SPAST (SPG4). Disease: Spastic paraparesis. Accession #Hm0552. ( 17297708 )
2006
8
Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection. ( 15164410 )
2004
9
Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. ( 15667412 )
2004
10
Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus. ( 12490534 )
2003
11
Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. ( 12124993 )
2002
12
Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation. ( 10987648 )
1999
13
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:

75 (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 356)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPAST NM_014946.3(SPAST): c.1085C> G (p.Ser362Cys) single nucleotide variant Pathogenic rs121908509 GRCh37 Chromosome 2, 32341268: 32341268
2 SPAST NM_014946.3(SPAST): c.1085C> G (p.Ser362Cys) single nucleotide variant Pathogenic rs121908509 GRCh38 Chromosome 2, 32116199: 32116199
3 SPAST NM_014946.3(SPAST): c.1343G> A (p.Cys448Tyr) single nucleotide variant Pathogenic rs121908510 GRCh37 Chromosome 2, 32361967: 32361967
4 SPAST NM_014946.3(SPAST): c.1343G> A (p.Cys448Tyr) single nucleotide variant Pathogenic rs121908510 GRCh38 Chromosome 2, 32136898: 32136898
5 SPAST NM_014946.3(SPAST): c.1395delT (p.Leu466Terfs) deletion Pathogenic rs587777751 GRCh38 Chromosome 2, 32136950: 32136950
6 SPAST NM_014946.3(SPAST): c.1395delT (p.Leu466Terfs) deletion Pathogenic rs587777751 GRCh37 Chromosome 2, 32362019: 32362019
7 SPAST NM_014946.3(SPAST): c.1495C> T (p.Arg499Cys) single nucleotide variant Pathogenic rs121908511 GRCh37 Chromosome 2, 32366974: 32366974
8 SPAST NM_014946.3(SPAST): c.1495C> T (p.Arg499Cys) single nucleotide variant Pathogenic rs121908511 GRCh38 Chromosome 2, 32141905: 32141905
9 SPAST NM_014946.3(SPAST): c.1688-2A> G single nucleotide variant Pathogenic rs587777752 GRCh38 Chromosome 2, 32147216: 32147216
10 SPAST NM_014946.3(SPAST): c.1688-2A> G single nucleotide variant Pathogenic rs587777752 GRCh37 Chromosome 2, 32372285: 32372285
11 SPAST SPAST, LYS229TER single nucleotide variant Pathogenic
12 SPAST NM_014946.3(SPAST): c.453dupA (p.Gly152Argfs) duplication Pathogenic rs587777753 GRCh38 Chromosome 2, 32087529: 32087529
13 SPAST NM_014946.3(SPAST): c.453dupA (p.Gly152Argfs) duplication Pathogenic rs587777753 GRCh37 Chromosome 2, 32312598: 32312598
14 SPAST NM_014946.3(SPAST): c.1322A> G (p.Asp441Gly) single nucleotide variant Pathogenic rs121908512 GRCh37 Chromosome 2, 32361946: 32361946
15 SPAST NM_014946.3(SPAST): c.1322A> G (p.Asp441Gly) single nucleotide variant Pathogenic rs121908512 GRCh38 Chromosome 2, 32136877: 32136877
16 SPAST NM_014946.3(SPAST): c.1728+1G> C single nucleotide variant Pathogenic rs587777754 GRCh38 Chromosome 2, 32147259: 32147259
17 SPAST NM_014946.3(SPAST): c.1728+1G> C single nucleotide variant Pathogenic rs587777754 GRCh37 Chromosome 2, 32372328: 32372328
18 SPAST NM_014946.3(SPAST): c.1245+4A> G single nucleotide variant Pathogenic rs587777755 GRCh38 Chromosome 2, 32128483: 32128483
19 SPAST NM_014946.3(SPAST): c.1245+4A> G single nucleotide variant Pathogenic rs587777755 GRCh37 Chromosome 2, 32353552: 32353552
20 SPAST NM_014946.3(SPAST): c.1413+2dupT duplication Pathogenic rs587777756 GRCh38 Chromosome 2, 32136970: 32136970
21 SPAST NM_014946.3(SPAST): c.1413+2dupT duplication Pathogenic rs587777756 GRCh37 Chromosome 2, 32362039: 32362039
22 SPAST NM_014946.3(SPAST): c.1031T> A (p.Ile344Lys) single nucleotide variant Pathogenic rs121908513 GRCh37 Chromosome 2, 32341214: 32341214
23 SPAST NM_014946.3(SPAST): c.1031T> A (p.Ile344Lys) single nucleotide variant Pathogenic rs121908513 GRCh38 Chromosome 2, 32116145: 32116145
24 SPAST NM_014946.3(SPAST): c.1157A> G (p.Asn386Ser) single nucleotide variant Pathogenic rs121908514 GRCh37 Chromosome 2, 32352075: 32352075
25 SPAST NM_014946.3(SPAST): c.1157A> G (p.Asn386Ser) single nucleotide variant Pathogenic rs121908514 GRCh38 Chromosome 2, 32127006: 32127006
26 SPAST NM_014946.3(SPAST): c.1409A> T (p.Asp470Val) single nucleotide variant Pathogenic rs121908516 GRCh37 Chromosome 2, 32362033: 32362033
27 SPAST NM_014946.3(SPAST): c.1409A> T (p.Asp470Val) single nucleotide variant Pathogenic rs121908516 GRCh38 Chromosome 2, 32136964: 32136964
28 SPAST NM_014946.3(SPAST): c.131C> T (p.Ser44Leu) single nucleotide variant risk factor rs121908515 GRCh37 Chromosome 2, 32289031: 32289031
29 SPAST NM_014946.3(SPAST): c.131C> T (p.Ser44Leu) single nucleotide variant risk factor rs121908515 GRCh38 Chromosome 2, 32063962: 32063962
30 SPAST NM_014946.3(SPAST): c.1684C> G (p.Arg562Gly) single nucleotide variant Pathogenic rs121908518 GRCh37 Chromosome 2, 32370073: 32370073
31 SPAST NM_014946.3(SPAST): c.1684C> G (p.Arg562Gly) single nucleotide variant Pathogenic rs121908518 GRCh38 Chromosome 2, 32145004: 32145004
32 SPAST NM_014946.3(SPAST): c.-112_415+1779del deletion Pathogenic GRCh38 Chromosome 2, 32063720: 32066025
33 SPAST NM_014946.3(SPAST): c.-112_415+1779del deletion Pathogenic GRCh37 Chromosome 2, 32288789: 32291094
34 SPAST NM_014946.3(SPAST): c.1216A> G (p.Ile406Val) single nucleotide variant Likely pathogenic rs587777757 GRCh38 Chromosome 2, 32128450: 32128450
35 SPAST NM_014946.3(SPAST): c.1216A> G (p.Ile406Val) single nucleotide variant Likely pathogenic rs587777757 GRCh37 Chromosome 2, 32353519: 32353519
36 SPAST NM_014946.3(SPAST): c.1335C> A (p.Ser445Arg) single nucleotide variant Pathogenic rs121908519 GRCh37 Chromosome 2, 32361959: 32361959
37 SPAST NM_014946.3(SPAST): c.1335C> A (p.Ser445Arg) single nucleotide variant Pathogenic rs121908519 GRCh38 Chromosome 2, 32136890: 32136890
38 SPAST NG_008730.1: g.75057_79101dup4045 duplication Pathogenic GRCh38 Chromosome 2, 32133667: 32137711
39 SPAST NG_008730.1: g.75057_79101dup4045 duplication Pathogenic GRCh37 Chromosome 2, 32358736: 32362780
40 SPAST NM_014946.3(SPAST): c.1414-1G> C single nucleotide variant Pathogenic rs786204163 GRCh38 Chromosome 2, 32137108: 32137108
41 SPAST NM_014946.3(SPAST): c.1165A> G (p.Thr389Ala) single nucleotide variant Pathogenic rs786204132 GRCh37 Chromosome 2, 32352083: 32352083
42 SPAST NM_014946.3(SPAST): c.1165A> G (p.Thr389Ala) single nucleotide variant Pathogenic rs786204132 GRCh38 Chromosome 2, 32127014: 32127014
43 SPAST NM_014946.3(SPAST): c.1291C> T (p.Arg431Ter) single nucleotide variant Pathogenic rs786204126 GRCh37 Chromosome 2, 32361677: 32361677
44 SPAST NM_014946.3(SPAST): c.1291C> T (p.Arg431Ter) single nucleotide variant Pathogenic rs786204126 GRCh38 Chromosome 2, 32136608: 32136608
45 SPAST NM_014946.3(SPAST): c.1414-1G> C single nucleotide variant Pathogenic rs786204163 GRCh37 Chromosome 2, 32362177: 32362177
46 SPAST NM_014946.3(SPAST): c.1637G> A (p.Gly546Glu) single nucleotide variant Uncertain significance rs786204057 GRCh38 Chromosome 2, 32144957: 32144957
47 SPAST NM_014946.3(SPAST): c.1637G> A (p.Gly546Glu) single nucleotide variant Uncertain significance rs786204057 GRCh37 Chromosome 2, 32370026: 32370026
48 SPAST NM_014946.3(SPAST): c.683-9C> T single nucleotide variant Benign/Likely benign rs202209866 GRCh37 Chromosome 2, 32339698: 32339698
49 SPAST NM_014946.3(SPAST): c.683-9C> T single nucleotide variant Benign/Likely benign rs202209866 GRCh38 Chromosome 2, 32114629: 32114629
50 SPAST NM_014946.3(SPAST): c.1168A> G (p.Met390Val) single nucleotide variant Pathogenic rs797044850 GRCh37 Chromosome 2, 32352086: 32352086

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 membrane GO:0016020 9.97 ATL1 ERLIN2 NIPA1 REEP1 RTN2 SLC33A1
2 integral component of membrane GO:0016021 9.91 ATL1 ERLIN2 NIPA1 REEP1 RTN2 SLC33A1
3 endoplasmic reticulum GO:0005783 9.7 ATL1 ERLIN2 REEP1 RTN2 SLC33A1 SPAST
4 axon GO:0030424 9.58 ATL1 SPG11 ZFYVE27
5 axon cytoplasm GO:1904115 9.37 SPAST SPG7
6 endoplasmic reticulum membrane GO:0005789 9.17 ATL1 ERLIN2 REEP1 RTN2 SLC33A1 SPAST
7 endoplasmic reticulum tubular network GO:0071782 9.13 ATL1 REEP1 ZFYVE27

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 8.96 ATL1 SPAST
2 anterograde axonal transport GO:0008089 8.62 SPAST SPG7

Sources for Spastic Paraplegia 4, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....