SPG11
MCID: SPS092
MIFTS: 37

Spastic Paraplegia 11 (SPG11)

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 11

MalaCards integrated aliases for Spastic Paraplegia 11:

Name: Spastic Paraplegia 11 25 20 6
Nakamura Osame Syndrome 20 70
Autosomal Recessive Spastic Paraplegia with Mental Impairment and Thin Corpus Callosum 43
Autosomal Recessive Spastic Paraplegia Complicated with Thin Corpus Callosum 43
Hereditary Spastic Paraplegia Mental Impairment and Thin Corpus Callosum 20
Spg11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum 43
Spastic Paraplegia - Intellectual Deficit - Thin Corpus Callosum 20
Autosomal Recessive Spastic Paraplegia Type 11 20
Spastic Paraplegia 11, Autosomal Recessive 70
Hereditary Spastic Paraplegia 11 20
Spastic Paraplegia Type 11 43
Hsp-Tcc 43
Spg11 20

Classifications:



External Ids:

UMLS 70 C1858479 C2931821

Summaries for Spastic Paraplegia 11

MedlinePlus Genetics : 43 Spastic paraplegia type 11 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can affect the upper limbs to a lesser degree. Complex spastic paraplegias also affect the structure or functioning of the brain and the peripheral nervous system, which consists of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Spastic paraplegia type 11 is a complex hereditary spastic paraplegia.Like all hereditary spastic paraplegias, spastic paraplegia type 11 involves spasticity of the leg muscles and muscle weakness. In almost all individuals with this type of spastic paraplegia, the tissue connecting the left and right halves of the brain (corpus callosum) is abnormally thin. People with this form of spastic paraplegia can also experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); disturbance in the nerves used for muscle movement (motor neuropathy); intellectual disability; exaggerated reflexes (hyperreflexia) of the lower limbs; speech difficulties (dysarthria); reduced bladder control; and muscle wasting (amyotrophy). Less common features include difficulty swallowing (dysphagia), high-arched feet (pes cavus), an abnormal curvature of the spine (scoliosis), and involuntary movements of the eyes (nystagmus). The onset of symptoms varies greatly; however, abnormalities in muscle tone and difficulty walking usually become noticeable in adolescence.Many features of spastic paraplegia type 11 are progressive. Most people experience a decline in intellectual ability and an increase in muscle weakness and nerve abnormalities over time. As the condition progresses, some people require wheelchair assistance.

MalaCards based summary : Spastic Paraplegia 11, also known as nakamura osame syndrome, is related to spastic paraplegia 11, autosomal recessive and charcot-marie-tooth disease, axonal, type 2x, and has symptoms including ataxia, urgency of micturition and abnormal pyramidal signs. An important gene associated with Spastic Paraplegia 11 is SPG11 (SPG11 Vesicle Trafficking Associated, Spatacsin). The drugs Miglustat and Glycoside Hydrolase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include brain and spinal cord.

GARD : 20 Spastic paraplegia 11 (SPG11) is a form of hereditary spastic paraplegia. People with SPG11 experience worsening muscle stiffness leading to eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms that may include intellectual disability, speech difficulties ( dysarthria ), and reduced bladder control. Additionally, the tissue connecting the left and right halves of the brain ( corpus callosum ) is abnormally thin in most individuals with SPG11. Onset of symptoms typically occurs during infancy or adolescence. SPG11 is caused by mutations in the SPG11 gene and is inherited in an autosomal recessive fashion. Treatment is focused on managing symptoms and may include physical therapy and antispastic medications to prolong muscle control.

GeneReviews: NBK1210

Related Diseases for Spastic Paraplegia 11

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 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 140)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 11, autosomal recessive 31.9 SPG11 EIF3J
2 charcot-marie-tooth disease, axonal, type 2x 11.4
3 amyotrophic lateral sclerosis type 5 11.3
4 juvenile amyotrophic lateral sclerosis 11.3
5 spastic paraparesis 11.1
6 charcot-marie-tooth disease 11.1
7 tooth disease 11.0
8 charcot-marie-tooth disease, axonal, type 2e 11.0
9 amyotrophic lateral sclerosis 5, juvenile 11.0
10 axonal neuropathy 11.0
11 homocarnosinosis 10.9
12 spinocerebellar ataxia 2 10.9
13 hemochromatosis, type 1 10.9
14 motor peripheral neuropathy 10.9
15 spastic paraplegia 15, autosomal recessive 10.9
16 mast syndrome 10.8
17 spastic paraplegia 7, autosomal recessive 10.8
18 complex hereditary spastic paraplegia 10.8
19 spastic paraplegia 46, autosomal recessive 10.8
20 spastic paraplegia 4, autosomal dominant 10.8
21 spastic paraplegia 48, autosomal recessive 10.8
22 spastic paraplegia 56, autosomal recessive 10.8
23 spastic paraplegia 54, autosomal recessive 10.8
24 spastic paraplegia 55, autosomal recessive 10.8
25 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.8
26 spastic paraplegia 3, autosomal dominant 10.8
27 parkinson disease 15, autosomal recessive early-onset 10.8
28 spastic paraplegia 17, autosomal dominant 10.8
29 spastic paraplegia 5a, autosomal recessive 10.8
30 spastic paraplegia 16, x-linked 10.8
31 masa syndrome 10.8
32 spastic paraplegia 2, x-linked 10.8
33 spastic paraplegia 6, autosomal dominant 10.8
34 amyotrophic lateral sclerosis 4, juvenile 10.8
35 spastic paraplegia 8, autosomal dominant 10.8
36 spastic paraplegia 10, autosomal dominant 10.8
37 spastic paraplegia 12, autosomal dominant 10.8
38 spastic paraplegia 14, autosomal recessive 10.8
39 spastic paraplegia 13, autosomal dominant 10.8
40 amyotrophic lateral sclerosis 7 10.8
41 amyotrophic lateral sclerosis 8 10.8
42 spastic paraplegia 26, autosomal recessive 10.8
43 spastic paraplegia 28, autosomal recessive 10.8
44 spastic paraplegia 33, autosomal dominant 10.8
45 spastic paraplegia 31, autosomal dominant 10.8
46 spinal muscular atrophy, distal, autosomal recessive, 4 10.8
47 spastic paraplegia 18, autosomal recessive 10.8
48 spastic paraplegia 32, autosomal recessive 10.8
49 amyotrophic lateral sclerosis 9 10.8
50 spastic paraplegia 39, autosomal recessive 10.8

Graphical network of the top 20 diseases related to Spastic Paraplegia 11:



Diseases related to Spastic Paraplegia 11

Symptoms & Phenotypes for Spastic Paraplegia 11

UMLS symptoms related to Spastic Paraplegia 11:


ataxia; urgency of micturition; abnormal pyramidal signs

Drugs & Therapeutics for Spastic Paraplegia 11

Drugs for Spastic Paraplegia 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 2 72599-27-0 51634
2 Glycoside Hydrolase Inhibitors Phase 2
3 Anti-Retroviral Agents Phase 2
4 Antiviral Agents Phase 2
5 Anti-HIV Agents Phase 2
6 Anti-Infective Agents Phase 2
7 Cardiac Glycosides Phase 2
8 Hypoglycemic Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 2 Pharmacological Trial to Evaluate the Safety of Miglustat Administration in Subjects With Spastic Paraplegia 11 (TreatSPG11) Not yet recruiting NCT04768166 Phase 2 Miglustat

Search NIH Clinical Center for Spastic Paraplegia 11

Genetic Tests for Spastic Paraplegia 11

Anatomical Context for Spastic Paraplegia 11

MalaCards organs/tissues related to Spastic Paraplegia 11:

40
Brain, Spinal Cord

Publications for Spastic Paraplegia 11

Articles related to Spastic Paraplegia 11:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Severe axonal neuropathy is a late manifestation of SPG11. 25 6
27544499 2016
2
Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 25 6
27217339 2016
3
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles. 25 6
27071356 2016
4
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 6 25
26556829 2016
5
Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation. 6 25
26671123 2015
6
Hereditary spastic paraplegia type 11 with a very late onset. 6 25
26183056 2015
7
White and grey matter abnormalities in patients with SPG11 mutations. 25 6
22696581 2012
8
Exome sequencing reveals SPG11 mutations causing juvenile ALS. 25 6
22154821 2012
9
Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene. 25 6
21035867 2011
10
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish. 6 25
20390432 2010
11
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. 6 25
20110243 2010
12
SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 6 25
19194956 2009
13
Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity. 6 25
19438933 2009
14
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. 25 6
19105190 2009
15
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. 6 25
18079167 2008
16
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. 25 6
18067136 2007
17
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. 25 6
17322883 2007
18
Spastic Paraplegia 11 6 61
20301389 2008
19
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 6
32214227 2020
20
Novel SPG11 Mutations in a Patient with Symptoms Mimicking Multiple Sclerosis. 61 25
29877287 2018
21
Homocarnosinosis: A historical update and findings in the SPG11 gene. 6
29732542 2018
22
Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration. 61 25
29949766 2018
23
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes. 6
29691679 2018
24
Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach. 6
29246610 2017
25
Genomic diagnosis for children with intellectual disability and/or developmental delay. 6
28554332 2017
26
Pallidal Deep Brain Stimulation for the Treatment of Levodopa-Responsive Juvenile Dystonia and Parkinsonism Secondary to SPG11 Mutation. 6
27820618 2017
27
Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11. 6
27900367 2016
28
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions. 25 61
27016404 2016
29
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. 6
27084228 2016
30
Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study. 6
27077743 2016
31
Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia. 6
26064709 2015
32
Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis. 6
25299611 2014
33
Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene. 6
25059394 2014
34
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. 6
24833714 2014
35
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 6
24482476 2014
36
Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia. 6
24090761 2013
37
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients. 6
23443022 2013
38
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. 6
23733235 2013
39
Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum. 6
23121729 2013
40
Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders. 6
23043354 2013
41
Active human retrotransposons: variation and disease. 6
22406018 2012
42
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis. 6
22246010 2012
43
Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations. 6
22237444 2012
44
Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation. 6
22175763 2012
45
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI. 6
21625935 2011
46
A mobile threat to genome stability: The impact of non-LTR retrotransposons upon the human genome. 6
20307669 2010
47
Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11. 6
20571989 2010
48
The impact of retrotransposons on human genome evolution. 6
19763152 2009
49
Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum. 6
19196735 2009
50
Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum. 6
18835492 2008

Variations for Spastic Paraplegia 11

ClinVar genetic disease variations for Spastic Paraplegia 11:

6 (show top 50) (show all 1011)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPG11 NM_025137.4(SPG11):c.1668del (p.Phe556fs) Deletion Pathogenic 41278 rs312262731 GRCh37: 15:44925770-44925770
GRCh38: 15:44633572-44633572
2 SPG11 NM_025137.4(SPG11):c.1679C>G (p.Ser560Ter) SNV Pathogenic 41279 rs312262732 GRCh37: 15:44925759-44925759
GRCh38: 15:44633561-44633561
3 SPG11 NM_025137.4(SPG11):c.1697_1711delinsTACTCCCA (p.Asp566fs) Indel Pathogenic 41280 rs312262733 GRCh37: 15:44925727-44925741
GRCh38: 15:44633529-44633543
4 SPG11 NM_025137.4(SPG11):c.1837_1838insA (p.Leu613fs) Insertion Pathogenic 41282 rs312262735 GRCh37: 15:44921484-44921485
GRCh38: 15:44629286-44629287
5 SPG11 NM_025137.4(SPG11):c.1845_1846del (p.Ser616fs) Deletion Pathogenic 41283 rs312262736 GRCh37: 15:44921476-44921477
GRCh38: 15:44629278-44629279
6 SPG11 NM_025137.4(SPG11):c.2163dup (p.Ile722fs) Duplication Pathogenic 41286 rs312262738 GRCh37: 15:44918609-44918610
GRCh38: 15:44626411-44626412
7 SPG11 NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter) SNV Pathogenic 41287 rs312262739 GRCh37: 15:44918575-44918575
GRCh38: 15:44626377-44626377
8 SPG11 NM_025137.4(SPG11):c.2356_2357GA[1] (p.Arg788fs) Microsatellite Pathogenic 41289 rs312262741 GRCh37: 15:44914503-44914504
GRCh38: 15:44622305-44622306
9 SPG11 NM_025137.4(SPG11):c.2444+1G>C SNV Pathogenic 41290 rs312262743 GRCh37: 15:44914417-44914417
GRCh38: 15:44622219-44622219
10 SPG11 NM_025137.4(SPG11):c.2444G>T (p.Arg815Met) SNV Pathogenic 41291 rs312262742 GRCh37: 15:44914418-44914418
GRCh38: 15:44622220-44622220
11 SPG11 NM_025137.4(SPG11):c.2608A>G (p.Ile870Val) SNV Pathogenic 41293 rs312262745 GRCh37: 15:44913969-44913969
GRCh38: 15:44621771-44621771
12 SPG11 NM_025137.4(SPG11):c.267G>A (p.Trp89Ter) SNV Pathogenic 41294 rs312262709 GRCh37: 15:44952805-44952805
GRCh38: 15:44660607-44660607
13 SPG11 NM_025137.4(SPG11):c.268G>T (p.Glu90Ter) SNV Pathogenic 41295 rs312262710 GRCh37: 15:44952804-44952804
GRCh38: 15:44660606-44660606
14 SPG11 NM_025137.4(SPG11):c.2697G>A (p.Trp899Ter) SNV Pathogenic 41296 rs312262746 GRCh37: 15:44912525-44912525
GRCh38: 15:44620327-44620327
15 SPG11 NM_025137.4(SPG11):c.2716del (p.Gln906fs) Deletion Pathogenic 41297 rs312262747 GRCh37: 15:44912506-44912506
GRCh38: 15:44620308-44620308
16 SPG11 NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly) SNV Pathogenic 41298 rs312262748 GRCh37: 15:44912389-44912389
GRCh38: 15:44620191-44620191
17 SPG11 NM_025137.4(SPG11):c.2842dup (p.Val948fs) Duplication Pathogenic 41300 rs312262750 GRCh37: 15:44907756-44907757
GRCh38: 15:44615558-44615559
18 SPG11 NM_025137.3(SPG11):c.3145_3146insCA (p.Asp1049Alafs) Insertion Pathogenic 41303 GRCh37:
GRCh38:
19 SPG11 NM_025137.4(SPG11):c.3291+1G>T SNV Pathogenic 41304 rs312262753 GRCh37: 15:44903037-44903037
GRCh38: 15:44610839-44610839
20 SPG11 NM_025137.4(SPG11):c.349G>T (p.Glu117Ter) SNV Pathogenic 41306 rs312262711 GRCh37: 15:44952723-44952723
GRCh38: 15:44660525-44660525
21 SPG11 NM_025137.4(SPG11):c.359del (p.Asn119_Leu120insTer) Deletion Pathogenic 41307 rs312262712 GRCh37: 15:44952713-44952713
GRCh38: 15:44660515-44660515
22 SPG11 NM_025137.4(SPG11):c.3602_3603del (p.Tyr1201fs) Deletion Pathogenic 41308 rs312262754 GRCh37: 15:44892748-44892749
GRCh38: 15:44600550-44600551
23 SPG11 NM_025137.4(SPG11):c.3664_3665insT (p.Lys1222fs) Insertion Pathogenic 41309 rs312262755 GRCh37: 15:44892686-44892687
GRCh38: 15:44600488-44600489
24 SPG11 NM_025137.4(SPG11):c.3717_3718TA[1] (p.Ile1240fs) Microsatellite Pathogenic 41310 rs312262756 GRCh37: 15:44891001-44891002
GRCh38: 15:44598803-44598804
25 SPG11 NM_025137.4(SPG11):c.3741dup (p.Pro1248fs) Duplication Pathogenic 41311 rs312262757 GRCh37: 15:44890979-44890980
GRCh38: 15:44598781-44598782
26 SPG11 NM_025137.4(SPG11):c.398del (p.Cys133fs) Deletion Pathogenic 41312 rs312262713 GRCh37: 15:44952674-44952674
GRCh38: 15:44660476-44660476
27 SPG11 NM_025137.4(SPG11):c.4046T>A (p.Phe1349Tyr) SNV Pathogenic 41313 rs312262758 GRCh37: 15:44889097-44889097
GRCh38: 15:44596899-44596899
28 SPG11 NM_025137.4(SPG11):c.408_428del (p.Glu136_Ile142del) Deletion Pathogenic 41314 rs312262714 GRCh37: 15:44952644-44952664
GRCh38: 15:44660446-44660466
29 SPG11 NM_025137.4(SPG11):c.4668T>A (p.Tyr1556Ter) SNV Pathogenic 41318 rs312262761 GRCh37: 15:44884604-44884604
GRCh38: 15:44592406-44592406
30 SPG11 NM_025137.4(SPG11):c.4846C>T (p.Gln1616Ter) SNV Pathogenic 41319 rs312262762 GRCh37: 15:44881510-44881510
GRCh38: 15:44589312-44589312
31 SPG11 NM_025137.4(SPG11):c.5255del (p.Phe1752fs) Deletion Pathogenic 41320 rs312262763 GRCh37: 15:44876623-44876623
GRCh38: 15:44584425-44584425
32 SPG11 NM_025137.4(SPG11):c.5408_5409TG[1] (p.Cys1804fs) Microsatellite Pathogenic 41323 rs312262766 GRCh37: 15:44876467-44876468
GRCh38: 15:44584269-44584270
33 SPG11 NM_025137.4(SPG11):c.5532_5533del (p.Lys1845fs) Deletion Pathogenic 41325 rs312262768 GRCh37: 15:44876345-44876346
GRCh38: 15:44584147-44584148
34 SPG11 NM_025137.4(SPG11):c.5703del (p.His1902fs) Deletion Pathogenic 41326 rs312262769 GRCh37: 15:44876175-44876175
GRCh38: 15:44583977-44583977
35 SPG11 NM_025137.4(SPG11):c.5769del (p.Ser1923fs) Deletion Pathogenic 41327 rs312262770 GRCh37: 15:44876109-44876109
GRCh38: 15:44583911-44583911
36 SPG11 NM_025137.4(SPG11):c.5798del (p.Ala1933fs) Deletion Pathogenic 41328 rs312262771 GRCh37: 15:44876080-44876080
GRCh38: 15:44583882-44583882
37 SPG11 NM_025137.3(SPG11):c.5867-3237_6478-451del8323 Deletion Pathogenic 41329 GRCh37: 15:44862154-44870476
GRCh38: 15:44569956-44578278
38 SPG11 NM_025137.4(SPG11):c.5870C>G (p.Ser1957Ter) SNV Pathogenic 41330 rs312262772 GRCh37: 15:44867236-44867236
GRCh38: 15:44575038-44575038
39 SPG11 NM_025137.3:c.5898+5493_6509-491del Deletion Pathogenic 41331 GRCh37:
GRCh38:
40 SPG11 NM_025137.4(SPG11):c.5970C>G (p.Tyr1990Ter) SNV Pathogenic 41332 rs312262773 GRCh37: 15:44867136-44867136
GRCh38: 15:44574938-44574938
41 SPG11 NM_025137.4(SPG11):c.5977C>T (p.Gln1993Ter) SNV Pathogenic 41334 rs312262774 GRCh37: 15:44867129-44867129
GRCh38: 15:44574931-44574931
42 SPG11 NM_025137.4(SPG11):c.5985_5988CTGT[1] (p.Leu1997fs) Microsatellite Pathogenic 41335 rs312262776 GRCh37: 15:44867114-44867117
GRCh38: 15:44574916-44574919
43 SPG11 NM_025137.3:c.5987_5990dupCTCT Duplication Pathogenic 41337 GRCh37:
GRCh38:
44 SPG11 NM_025137.4(SPG11):c.524_528ATATT[1] (p.Ile177fs) Microsatellite Pathogenic 1110 rs312262716 GRCh37: 15:44951411-44951415
GRCh38: 15:44659213-44659217
45 SPG11 NM_025137.4(SPG11):c.118C>T (p.Gln40Ter) SNV Pathogenic 1111 rs267607084 GRCh37: 15:44955728-44955728
GRCh38: 15:44663530-44663530
46 SPG11 NM_025137.4(SPG11):c.2472_2473insT (p.Lys825Ter) Insertion Pathogenic 1113 rs312262744 GRCh37: 15:44914104-44914105
GRCh38: 15:44621906-44621907
47 SPG11 NM_025137.4(SPG11):c.7152-1G>C SNV Pathogenic 1115 rs200079802 GRCh37: 15:44855500-44855500
GRCh38: 15:44563302-44563302
48 SPG11 NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) Duplication Pathogenic 1117 rs312262752 GRCh37: 15:44905697-44905698
GRCh38: 15:44613499-44613500
49 SPG11 NM_025137.4(SPG11):c.1203del (p.Asp402fs) Deletion Pathogenic 41268 rs312262722 GRCh37: 15:44943942-44943942
GRCh38: 15:44651744-44651744
50 SPG11 NM_025137.4(SPG11):c.1282A>T (p.Lys428Ter) SNV Pathogenic 41270 rs312262724 GRCh37: 15:44943863-44943863
GRCh38: 15:44651665-44651665

Expression for Spastic Paraplegia 11

Search GEO for disease gene expression data for Spastic Paraplegia 11.

Pathways for Spastic Paraplegia 11

GO Terms for Spastic Paraplegia 11

Sources for Spastic Paraplegia 11

3 CDC
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