SPG11
MCID: SPS151
MIFTS: 52

Spastic Paraplegia 11, Autosomal Recessive (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, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 11, Autosomal Recessive:

Name: Spastic Paraplegia 11, Autosomal Recessive 57 72 29 13 6 70
Spg11 57 12 58 72
Hsp-Tcc 57 12 72
Spastic Paraplegia-Intellectual Disability-Thin Corpus Callosum Syndrome 12 58
Autosomal Recessive Spastic Paraplegia Type 11 12 58
Hereditary Spastic Paraplegia 11 12 15
Nakamura-Osame Syndrome 12 58
Spastic Paraplegia, Autosomal Recessive, with Mental Impairment and Thin Corpus Callosum 57
Autosomal Recessive Spastic Paraplegia with Mental Impairment and Thin Corpus Callosum 12
Spastic Paraplegia Autosomal Recessive with Mental Impairment and Thin Corpus Callosum 72
Spastic Paraplegia, Autosomal Recessive, Complicated, with Thin Corpus Callosum 57
Autosomal Recessive Spastic Paraplegia Complicated with Thin Corpus Callosum 12
Spastic Paraplegia Autosomal Recessive Complicated with Thin Corpus Callosum 72
Autosomal Recessive Spastic Paraplegia with Thinning of Corpus Callosum 72
Paraplegia, Spastic, Autosomal Recessive, Type 11 39
Autosomal Recessive Spastic Paraplegia 11 12
Nakamura Osame Syndrome 70
Arhsp-Tcc 72

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 11
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
childhood onset has been reported
onset usually in early adolescence
adult onset has been reported (age 50 years)
loss of ambulation within 10 years of onset
some patients do not have thin corpus callosum
several forms of autosomal recessive spastic paraplegia (see )


HPO:

31
spastic paraplegia 11, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive adult onset childhood onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spastic Paraplegia 11, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Spastic paraplegia 11, autosomal recessive: 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.

MalaCards based summary : Spastic Paraplegia 11, Autosomal Recessive, also known as spg11, is related to spastic paraplegia 11 and amyotrophic lateral sclerosis type 5, and has symptoms including ataxia, urgency of micturition and abnormal pyramidal signs. An important gene associated with Spastic Paraplegia 11, Autosomal Recessive 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, cerebellum and spinal cord, and related phenotypes are intellectual disability and nystagmus

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the SPG11 gene on chromosome 15q21.

OMIM® : 57 Hereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity. For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800). (604360) (Updated 05-Apr-2021)

Related Diseases for Spastic Paraplegia 11, Autosomal Recessive

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

(show top 50) (show all 143)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 11 32.5 SPG11 EIF3J
2 amyotrophic lateral sclerosis type 5 31.6 ZFYVE26 SPG11 AP5Z1
3 complex hereditary spastic paraplegia 31.6 SPG7 SPG11
4 spastic paraplegia 7, autosomal recessive 31.4 SPG7 SPG11
5 neuropathy, hereditary sensory, type iic 31.4 SPG21 SPG11
6 spastic paraparesis 31.3 SPG7 SPG11 SPAST
7 spastic paraplegia 45, autosomal recessive 31.3 SPG21 SPG11
8 mast syndrome 31.3 SPG21 SPG11
9 spastic paraplegia 32, autosomal recessive 31.2 SPG7 SPG21 SPG11
10 motor peripheral neuropathy 31.2 ZFYVE26 SPG7 SPG11
11 spastic paraplegia 63, autosomal recessive 31.2 SPG7 SPG21 SPG11
12 hereditary spastic paraplegia 23 31.1 ZFYVE26 SPG21 SPG11
13 spastic paraplegia 64, autosomal recessive 31.1 ZFYVE26 SPG21 SPG11
14 spastic paraplegia 44, autosomal recessive 31.0 SPG21 SPG11 AP5Z1
15 spastic paraplegia 28, autosomal recessive 31.0 SPG7 SPG11 AP5Z1
16 spastic paraplegia 55, autosomal recessive 30.9 ZFYVE26 SPG7 SPG21 SPG11
17 spastic paraplegia 43, autosomal recessive 30.9 SPG11 SPAST
18 spastic paraplegia 49, autosomal recessive 30.8 ZFYVE26 SPG7 SPG21 SPG11
19 spastic paraplegia 26, autosomal recessive 30.8 SPG21 SPG11 SPAST
20 spastic paraplegia 54, autosomal recessive 30.8 SPG7 SPG21 SPG11 AP5Z1
21 spinocerebellar ataxia, autosomal recessive 20 30.8 ZFYVE26 SPG11
22 spastic paraplegia 3, autosomal dominant 30.8 SPG7 SPG11 SPAST
23 spastic paraplegia 52, autosomal recessive 30.6 ZFYVE26 SPG21 SPG11 AP5Z1
24 spastic paraplegia 16, x-linked 30.6 SPG7 SPG21 SPG11 SPAST
25 spastic paraplegia 14, autosomal recessive 30.6 SPG7 SPG21 SPG11 SPAST
26 paraplegia 30.5 ZFYVE26 SPG7 SPG21 SPG11 SPAST AP5Z1
27 charcot-marie-tooth disease, axonal, type 2e 30.5 ZFYVE26 SPG7 SPG21 SPG11 SPAST
28 spastic paraplegia 5a, autosomal recessive 30.4 ZFYVE26 SPG7 SPG11 SPAST
29 hereditary spastic paraplegia 51 30.4 ZFYVE26 SPG7 SPG21 SPG11 AP5Z1
30 spastic paraplegia 50, autosomal recessive 30.4 ZFYVE26 SPG7 SPG21 SPG11 AP5Z1
31 spastic paraplegia 18, autosomal recessive 30.3 ZFYVE26 SPG7 SPG21 SPG11 AP5Z1
32 spastic paraplegia 35, autosomal recessive 30.3 ZFYVE26 SPG7 SPG21 SPG11 AP5Z1
33 hereditary spastic paraplegia 30.3 ZFYVE26 SPG7 SPG21 SPG11 SPAST AP5Z1
34 hereditary spastic paraplegia 30 30.1 SPG7 SPG21 SPG11 SPAST AP5Z1
35 spastic paraplegia 13, autosomal dominant 30.1 SPG7 SPG21 SPG11 SPAST AP5Z1
36 spastic paraplegia 61, autosomal recessive 30.0 ZFYVE26 SPG21 SPG11 SPAST AP5Z1
37 spastic paraplegia 33, autosomal dominant 30.0 ZFYVE26 SPG21 SPG11 SPAST AP5Z1
38 spastic paraplegia 12, autosomal dominant 30.0 ZFYVE26 SPG21 SPG11 SPAST AP5Z1
39 hereditary spastic paraplegia 72 29.9 ZFYVE26 SPG7 SPG11 SPAST AP5Z1
40 spastic paraplegia 15, autosomal recessive 29.9 ZFYVE26 SPG7 SPG21 SPG11 SPAST AP5Z1
41 spastic paraplegia 42, autosomal dominant 29.9 ZFYVE26 SPG7 SPG11 SPAST AP5Z1
42 spastic paraplegia 46, autosomal recessive 29.8 ZFYVE26 SPG7 SPG21 SPG11 SPAST AP5Z1
43 spastic paraplegia 48, autosomal recessive 29.8 ZFYVE26 SPG7 SPG21 SPG11 SPAST AP5Z1
44 spastic paraplegia 56, autosomal recessive 29.8 ZFYVE26 SPG7 SPG21 SPG11 SPAST AP5Z1
45 spastic paraplegia 4, autosomal dominant 29.8 ZFYVE26 SPG7 SPG21 SPG11 SPAST AP5Z1
46 spastic paraplegia 39, autosomal recessive 29.7 ZFYVE26 SPG7 SPG21 SPG11 SPAST AP5Z1
47 spastic paraplegia 6, autosomal dominant 29.7 ZFYVE26 SPG7 SPG21 SPG11 SPAST AP5Z1
48 spastic paraplegia 31, autosomal dominant 29.7 ZFYVE26 SPG7 SPG21 SPG11 SPAST AP5Z1
49 spastic paraplegia 47, autosomal recessive 29.7 ZFYVE26 SPG7 SPG21 SPG11 SPAST AP5Z1
50 spastic paraplegia 8, autosomal dominant 29.7 ZFYVE26 SPG7 SPG21 SPG11 SPAST AP5Z1

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



Diseases related to Spastic Paraplegia 11, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 11, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 11, Autosomal Recessive:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
3 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
4 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
5 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
6 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
7 ventriculomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002119
8 mental deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001268
9 spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001258
10 aplasia/hypoplasia of the corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0007370
11 saccadic smooth pursuit 58 31 hallmark (90%) Very frequent (99-80%) HP:0001152
12 seizure 31 hallmark (90%) HP:0001250
13 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
14 reduced tendon reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001315
15 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
16 seizures 58 Very frequent (99-80%)
17 agenesis of corpus callosum 31 HP:0001274
18 dysphagia 31 HP:0002015
19 visual impairment 31 HP:0000505
20 specific learning disability 31 HP:0001328
21 obesity 31 HP:0001513
22 sensory neuropathy 31 HP:0000763
23 pes cavus 31 HP:0001761
24 babinski sign 31 HP:0003487
25 hypoplasia of the corpus callosum 31 HP:0002079
26 macular degeneration 31 HP:0000608
27 abnormality of the periventricular white matter 31 HP:0002518
28 lower limb spasticity 31 HP:0002061
29 urinary incontinence 31 HP:0000020
30 spastic gait 31 HP:0002064
31 ankle clonus 31 HP:0011448
32 urinary urgency 31 HP:0000012
33 urinary bladder sphincter dysfunction 31 HP:0002839
34 motor polyneuropathy 31 HP:0007178
35 thenar muscle atrophy 31 HP:0003393
36 lower limb muscle weakness 31 HP:0007340
37 tip-toe gait 31 HP:0030051
38 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
39 distal peripheral sensory neuropathy 31 HP:0007067
40 gaze-evoked nystagmus 31 HP:0000640
41 impaired vibration sensation in the lower limbs 31 HP:0002166
42 degeneration of the lateral corticospinal tracts 31 HP:0002314
43 knee clonus 31 HP:0011449

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
ataxia
dysarthria
dysphagia
lower limb spasticity
more
Skeletal Feet:
pes cavus

Muscle Soft Tissue:
amyotrophy
muscle atrophy, neurogenic
atrophy of the thenar and hypothenar muscles

Head And Neck Eyes:
nystagmus, gaze-evoked
pigmented macular degeneration, adult-onset
retinal degeneration, adult-onset
decreased visual acuity, adult-onset

Growth Weight:
obesity

Genitourinary Bladder:
urinary incontinence
urinary urgency
sphincter disturbances

Neurologic Peripheral Nervous System:
decreased vibratory sense in the lower limbs
peripheral motor and sensory neuropathy, distal
nerve biopsy shows loss of myelinated fibers

Clinical features from OMIM®:

604360 (Updated 05-Apr-2021)

UMLS symptoms related to Spastic Paraplegia 11, Autosomal Recessive:


ataxia; urgency of micturition; abnormal pyramidal signs

Drugs & Therapeutics for Spastic Paraplegia 11, Autosomal Recessive

Drugs for Spastic Paraplegia 11, Autosomal Recessive (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, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 11, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 11, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 11, Autosomal Recessive 29 SPG11

Anatomical Context for Spastic Paraplegia 11, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 11, Autosomal Recessive:

40
Brain, Cerebellum, Spinal Cord, Pituitary

Publications for Spastic Paraplegia 11, Autosomal Recessive

Articles related to Spastic Paraplegia 11, Autosomal Recessive:

(show top 50) (show all 210)
# Title Authors PMID Year
1
SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 61 6 57
19194956 2009
2
Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity. 57 6 61
19438933 2009
3
Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum. 61 57 6
19196735 2009
4
SPG11 compound mutations in spastic paraparesis with thin corpus callosum. 6 57 61
18663179 2008
5
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. 61 57 6
18067136 2007
6
SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation. 57 6 61
17717710 2007
7
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. 6 57 61
17322883 2007
8
Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum. 57 6 61
16773502 2006
9
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 61 6
32214227 2020
10
Homocarnosinosis: A historical update and findings in the SPG11 gene. 6 61
29732542 2018
11
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 61
29691679 2018
12
Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach. 61 6
29246610 2017
13
Pallidal Deep Brain Stimulation for the Treatment of Levodopa-Responsive Juvenile Dystonia and Parkinsonism Secondary to SPG11 Mutation. 6 61
27820618 2017
14
Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11. 6 61
27900367 2016
15
Severe axonal neuropathy is a late manifestation of SPG11. 61 6
27544499 2016
16
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles. 6 61
27071356 2016
17
Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 6 61
27217339 2016
18
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. 61 6
27084228 2016
19
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 6 61
26556829 2016
20
Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation. 6 61
26671123 2015
21
Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia. 61 6
26064709 2015
22
Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene. 6 61
25059394 2014
23
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. 61 6
24833714 2014
24
Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia. 61 6
24090761 2013
25
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients. 6 61
23443022 2013
26
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. 61 6
23733235 2013
27
Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum. 6 61
23121729 2013
28
Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders. 61 6
23043354 2013
29
White and grey matter abnormalities in patients with SPG11 mutations. 6 61
22696581 2012
30
Exome sequencing reveals SPG11 mutations causing juvenile ALS. 6 61
22154821 2012
31
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis. 6 61
22246010 2012
32
Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations. 61 6
22237444 2012
33
Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation. 6 61
22175763 2012
34
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI. 6 61
21625935 2011
35
Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene. 61 6
21035867 2011
36
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish. 6 61
20390432 2010
37
Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11. 61 6
20571989 2010
38
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. 61 6
19105190 2009
39
Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization. 57 61
18787847 2009
40
Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum. 61 6
18835492 2008
41
Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). 61 6
18717728 2008
42
SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. 61 6
18337587 2008
43
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. 6 61
18079167 2008
44
Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. 61 6
18332254 2008
45
Spastic Paraplegia 11 61 6
20301389 2008
46
SPG11--the most common type of recessive spastic paraplegia in Norway? 6 61
18439221 2008
47
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. 61 57
16699786 2006
48
Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity. 61 57
16682547 2006
49
Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). 61 57
14732628 2004
50
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 57 61
14745065 2004

Variations for Spastic Paraplegia 11, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 11, Autosomal Recessive:

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

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 11, Autosomal Recessive:

72
# Symbol AA change Variation ID SNP ID
1 SPG11 p.Phe1349Ile VAR_058417 rs156714954

Expression for Spastic Paraplegia 11, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 11, Autosomal Recessive.

Pathways for Spastic Paraplegia 11, Autosomal Recessive

GO Terms for Spastic Paraplegia 11, Autosomal Recessive

Cellular components related to Spastic Paraplegia 11, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon cytoplasm GO:1904115 8.62 SPG7 SPAST

Biological processes related to Spastic Paraplegia 11, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitotic cytokinesis GO:0000281 8.96 ZFYVE26 SPAST
2 anterograde axonal transport GO:0008089 8.62 SPG7 SPAST

Sources for Spastic Paraplegia 11, Autosomal Recessive

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