SPG11
MCID: SPS151
MIFTS: 47

Spastic Paraplegia 11, Autosomal Recessive (SPG11)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic 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 56 73 29 13 6 71
Spg11 56 12 58 73
Hsp-Tcc 56 12 73
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 56
Autosomal Recessive Spastic Paraplegia with Mental Impairment and Thin Corpus Callosum 12
Spastic Paraplegia Autosomal Recessive with Mental Impairment and Thin Corpus Callosum 73
Spastic Paraplegia, Autosomal Recessive, Complicated, with Thin Corpus Callosum 56
Autosomal Recessive Spastic Paraplegia Complicated with Thin Corpus Callosum 12
Spastic Paraplegia Autosomal Recessive Complicated with Thin Corpus Callosum 73
Autosomal Recessive Spastic Paraplegia with Thinning of Corpus Callosum 73
Paraplegia, Spastic, Autosomal Recessive, Type 11 39
Autosomal Recessive Spastic Paraplegia 11 12
Nakamura Osame Syndrome 71
Arhsp-Tcc 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 : 73 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 amyotrophic lateral sclerosis type 5 and complex hereditary spastic paraplegia, 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). Affiliated tissues include brain, cerebellum and eye, and related phenotypes are intellectual disability and seizures

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

OMIM : 56 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)

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 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 Spastic Paraplegia 80, Autosomal Dominant
Hereditary Spastic Paraplegia 23 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 117)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis type 5 32.7 ZFYVE26 SPG11
2 complex hereditary spastic paraplegia 32.2 SPG7 SPG11
3 mast syndrome 32.2 SPG21 SPG11
4 spastic paraparesis 32.1 SPG7 SPG11
5 spastic paraplegia 54, autosomal recessive 31.9 SPG7 SPG21 SPG11
6 spastic paraplegia 63, autosomal recessive 31.8 SPG21 SPG11
7 spastic paraplegia 30, autosomal recessive 31.8 SPG21 SPG11
8 spastic paraplegia 48, autosomal recessive 31.7 ZFYVE26 SPG21 SPG11
9 spastic paraplegia 28, autosomal recessive 31.6 SPG7 SPG11
10 spastic paraplegia 77, autosomal recessive 31.5 ZFYVE26 SPG11
11 spinocerebellar ataxia, autosomal recessive 20 31.4 ZFYVE26 SPG11
12 spastic paraplegia 64, autosomal recessive 31.4 SPG7 SPG21 SPG11
13 spastic paraplegia 15, autosomal recessive 31.4 ZFYVE26 SPG7 SPG21 SPG11
14 spastic paraplegia 43, autosomal recessive 31.3 ZFYVE26 SPG11
15 hereditary spastic paraplegia 23 31.3 ZFYVE26 SPG21 SPG11
16 spastic paraplegia 16, x-linked 31.3 ZFYVE26 SPG21 SPG11
17 hereditary spastic paraplegia 72 31.3 ZFYVE26 SPG21 SPG11
18 spastic paraplegia 14, autosomal recessive 31.3 ZFYVE26 SPG21 SPG11
19 spastic paraplegia 49, autosomal recessive 31.2 ZFYVE26 SPG21 SPG11
20 spastic paraplegia 55, autosomal recessive 31.2 ZFYVE26 SPG21 SPG11
21 spastic paraplegia 46, autosomal recessive 31.2 ZFYVE26 SPG7 SPG21 SPG11
22 spastic paraplegia 39, autosomal recessive 31.2 ZFYVE26 SPG21 SPG11
23 spastic paraplegia 12, autosomal dominant 31.2 ZFYVE26 SPG21 SPG11
24 spastic paraplegia 26, autosomal recessive 31.2 ZFYVE26 SPG21 SPG11
25 spastic paraplegia 4, autosomal dominant 31.2 ZFYVE26 SPG7 SPG21 SPG11
26 spastic paraplegia 6, autosomal dominant 31.2 ZFYVE26 SPG21 SPG11
27 spastic paraplegia 8, autosomal dominant 31.2 ZFYVE26 SPG21 SPG11
28 spastic paraplegia 42, autosomal dominant 31.2 ZFYVE26 SPG11
29 spastic paraplegia 17, autosomal dominant 31.2 ZFYVE26 SPG21 SPG11
30 motor peripheral neuropathy 31.1 SPG11 SLC12A6
31 neuropathy, hereditary sensory, type iic 31.0 SPG21 SPG11 AP4B1
32 paraplegia 31.0 ZFYVE26 SPG7 SPG21 SPG11 AP4B1
33 spastic paraplegia 56, autosomal recessive 31.0 SPG21 SPG11 AP4B1
34 spastic paraplegia 5a, autosomal recessive 31.0 ZFYVE26 SPG7 SPG11
35 spastic paraplegia 3, autosomal dominant 31.0 ZFYVE26 SPG11
36 charcot-marie-tooth disease, axonal, type 2e 30.9 ZFYVE26 SPG21 SPG11 SLC12A6
37 hereditary spastic paraplegia 30.9 ZFYVE26 SPG7 SPG21 SPG11 AP4B1
38 spastic paraplegia 18, autosomal recessive 30.7 ZFYVE26 SPG7 SPG21 SPG11
39 spastic paraplegia 35, autosomal recessive 30.7 ZFYVE26 SPG7 SPG21 SPG11
40 spastic paraplegia 31, autosomal dominant 30.7 ZFYVE26 SPG7 SPG21 SPG11
41 spastic paraplegia 10, autosomal dominant 30.7 ZFYVE26 SPG7 SPG21 SPG11
42 spastic paraplegia 20, autosomal recessive 30.7 ZFYVE26 SPG7 SPG21 SPG11
43 masa syndrome 30.7 ZFYVE26 SPG7 SPG21 SPG11
44 hereditary spastic paraplegia 51 30.7 ZFYVE26 SPG11 AP4B1
45 spastic paraplegia 50, autosomal recessive 30.6 ZFYVE26 SPG11 AP4B1
46 spastic paraplegia 52, autosomal recessive 30.4 ZFYVE26 SPG21 SPG11 AP4B1
47 spastic paraplegia 47, autosomal recessive 30.4 ZFYVE26 SPG21 SPG11 AP4B1
48 spastic paraplegia 32, autosomal recessive 29.8 ZFYVE26 SPG7 SPG21 SPG11 AP4B1
49 spastic paraplegia 2, x-linked 29.8 ZFYVE26 SPG7 SPG21 SPG11 AP4B1
50 charcot-marie-tooth disease, axonal, type 2x 12.4

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

Symptoms via clinical synopsis from OMIM:

56
Growth Weight:
obesity

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

Neurologic Central Nervous System:
hyperreflexia
ataxia
dysarthria
dysphagia
lower limb spasticity
more
Genitourinary Bladder:
urinary urgency
urinary incontinence
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

UMLS symptoms related to Spastic Paraplegia 11, Autosomal Recessive:


ataxia, urgency of micturition, abnormal pyramidal signs

Drugs & Therapeutics for Spastic Paraplegia 11, Autosomal Recessive

Search Clinical Trials , 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, Eye, Bone, Skin

Publications for Spastic Paraplegia 11, Autosomal Recessive

Articles related to Spastic Paraplegia 11, Autosomal Recessive:

(show top 50) (show all 176)
# Title Authors PMID Year
1
SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 61 56 6
19194956 2009
2
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. 61 56 6
18067136 2007
3
SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation. 61 56 6
17717710 2007
4
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. 61 56 6
17322883 2007
5
Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum. 61 56 6
16773502 2006
6
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 61 6
26556829 2016
7
Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity. 61 56
19438933 2009
8
Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum. 61 56
19196735 2009
9
Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization. 61 56
18787847 2009
10
SPG11 compound mutations in spastic paraparesis with thin corpus callosum. 61 56
18663179 2008
11
Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. 61 6
18332254 2008
12
Spastic Paraplegia 11 61 6
20301389 2008
13
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 56
16699786 2006
14
Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity. 61 56
16682547 2006
15
Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). 61 56
14732628 2004
16
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 61 56
14745065 2004
17
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. 6
20110243 2010
18
Is the transportation highway the right road for hereditary spastic paraplegia? 56
12355399 2002
19
Hereditary Spastic Paraplegia Overview 6
20301682 2000
20
Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15A13-15. 56
10894224 2000
21
Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. 56
10408536 1999
22
Hereditary spastic paraplegia with a thin corpus callosum and thalamic involvement in Japan. 56
9855541 1998
23
Familial spastic paraplegia with mental impairment and thin corpus callosum. 56
7561945 1995
24
Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11. 61
31900114 2020
25
A novel variant in the spatacsin gene causing SPG11 in a Malian family. 61
32007754 2020
26
Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found. 61
32007496 2020
27
Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes. 61
31969655 2020
28
Prevalence of oropharyngeal dysphagia in hereditary spastic paraplegias. 61
31939580 2019
29
A case of spastic paraplegia-15 with a novel pathogenic variant in ZFYVE26 gene. 61
31385551 2019
30
Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients. 61
31745725 2019
31
Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis. 61
31925191 2019
32
Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families. 61
31281085 2019
33
Oligogenic basis of sporadic ALS: The example of SOD1 p.Ala90Val mutation. 61
31086828 2019
34
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes. 61
30778698 2019
35
Back From the Brink: Retrieval of Membrane Proteins From Terminal Compartments: Unexpected Pathways for Membrane Protein Retrieval From Vacuoles and Endolysosomes. 61
30706963 2019
36
Human SPG11 cerebral organoids reveal cortical neurogenesis impairment. 61
30476097 2019
37
CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76. 61
31355030 2019
38
"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia. 61
30606727 2019
39
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis. 61
30081747 2019
40
Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms? 61
31231294 2019
41
[Common forms of hereditary spastic paraplegias]. 61
30874534 2019
42
Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort. 61
31475037 2019
43
Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis. 61
31637311 2019
44
Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia. 61
31289639 2019
45
Malassezia and Parkinson's Disease. 61
31396143 2019
46
Tensor-based morphometry using scalar and directional information of diffusion tensor MRI data (DTBM): Application to hereditary spastic paraplegia. 61
30253021 2018
47
The genetic landscape of Parkinson's disease. 61
30245141 2018
48
Novel SPG11 Mutations in a Patient with Symptoms Mimicking Multiple Sclerosis. 61
29877287 2018
49
SPG11-related parkinsonism: Clinical profile, molecular imaging and l-dopa response. 61
30306626 2018
50
Homocarnosinosis: A historical update and findings in the SPG11 gene. 61
29732542 2018

Variations for Spastic Paraplegia 11, Autosomal Recessive

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

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPG11 NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter)SNV Pathogenic 188250 rs786204176 15:44907722-44907722 15:44615524-44615524
2 SPG11 NM_025137.4(SPG11):c.6632dup (p.Pro2212fs)duplication Pathogenic 218142 rs863225439 15:44859743-44859744 15:44567545-44567546
3 SPG11 NM_025137.4(SPG11):c.592C>T (p.Gln198Ter)SNV Pathogenic 218143 rs863225440 15:44951352-44951352 15:44659154-44659154
4 SPG11 NM_025137.4(SPG11):c.2331del (p.Glu778fs)deletion Pathogenic 216127 rs863224524 15:44914531-44914531 15:44622333-44622333
5 SPG11 NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)SNV Pathogenic 1109 rs118203963 15:44865850-44865850 15:44573652-44573652
6 SPG11 NM_025137.4(SPG11):c.524_528ATATT[1] (p.Ile177fs)short repeat Pathogenic 1110 rs312262716 15:44951411-44951415 15:44659213-44659217
7 SPG11 NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)SNV Pathogenic 1111 rs267607084 15:44955728-44955728 15:44663530-44663530
8 SPG11 NM_025137.4(SPG11):c.733_734del (p.Met245fs)deletion Pathogenic 1112 rs312262720 15:44949428-44949429 15:44657230-44657231
9 SPG11 NM_025137.4(SPG11):c.2472_2473insT (p.Lys825Ter)insertion Pathogenic 1113 rs312262744 15:44914104-44914105 15:44621906-44621907
10 SPG11 NM_025137.4(SPG11):c.442+1G>CSNV Pathogenic 1114 rs312262715 15:44952629-44952629 15:44660431-44660431
11 SPG11 NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)SNV Pathogenic 1116 rs141848292 15:44876255-44876255 15:44584057-44584057
12 SPG11 NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)duplication Pathogenic 1117 rs312262752 15:44905697-44905698 15:44613499-44613500
13 SPG11 NM_025137.4(SPG11):c.1203del (p.Asp402fs)deletion Pathogenic 41268 rs312262722 15:44943942-44943942 15:44651744-44651744
14 SPG11 NM_025137.4(SPG11):c.1282A>T (p.Lys428Ter)SNV Pathogenic 41270 rs312262724 15:44943863-44943863 15:44651665-44651665
15 SPG11 NM_025137.4(SPG11):c.1457-2A>GSNV Pathogenic 41272 rs312262726 15:44941211-44941211 15:44649013-44649013
16 SPG11 NM_025137.4(SPG11):c.1465_1466CT[3] (p.Leu491fs)short repeat Pathogenic 41273 rs312262727 15:44941194-44941195 15:44648996-44648997
17 SPG11 NM_025137.4(SPG11):c.1547_1548CT[1] (p.Cys518fs)short repeat Pathogenic 41274 rs312262729 15:44941116-44941117 15:44648918-44648919
18 SPG11 NM_025137.4(SPG11):c.349G>T (p.Glu117Ter)SNV Pathogenic 41306 rs312262711 15:44952723-44952723 15:44660525-44660525
19 SPG11 NM_025137.4(SPG11):c.359del (p.Asn119_Leu120insTer)deletion Pathogenic 41307 rs312262712 15:44952713-44952713 15:44660515-44660515
20 SPG11 NM_025137.4(SPG11):c.3602_3603del (p.Tyr1201fs)deletion Pathogenic 41308 rs312262754 15:44892748-44892749 15:44600550-44600551
21 SPG11 NM_025137.4(SPG11):c.3664_3665insT (p.Lys1222fs)insertion Pathogenic 41309 rs312262755 15:44892686-44892687 15:44600488-44600489
22 SPG11 NM_025137.4(SPG11):c.3717_3718TA[1] (p.Ile1240fs)short repeat Pathogenic 41310 rs312262756 15:44891001-44891002 15:44598803-44598804
23 SPG11 NM_025137.4(SPG11):c.3741dup (p.Pro1248fs)duplication Pathogenic 41311 rs312262757 15:44890979-44890980 15:44598781-44598782
24 SPG11 NM_025137.4(SPG11):c.398del (p.Cys133fs)deletion Pathogenic 41312 rs312262713 15:44952674-44952674 15:44660476-44660476
25 SPG11 NM_025137.4(SPG11):c.4046T>A (p.Phe1349Tyr)SNV Pathogenic 41313 rs312262758 15:44889097-44889097 15:44596899-44596899
26 SPG11 NM_025137.4(SPG11):c.408_428del (p.Glu136_Ile142del)deletion Pathogenic 41314 rs312262714 15:44952644-44952664 15:44660446-44660466
27 SPG11 NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs)deletion Pathogenic 41315 rs312262759 15:44888407-44888408 15:44596209-44596210
28 SPG11 NM_025137.4(SPG11):c.4460_4461GT[1] (p.Val1488fs)short repeat Pathogenic 41317 rs587777921 15:44887629-44887630 15:44595431-44595432
29 SPG11 NM_025137.4(SPG11):c.4668T>A (p.Tyr1556Ter)SNV Pathogenic 41318 rs312262761 15:44884604-44884604 15:44592406-44592406
30 SPG11 NM_025137.4(SPG11):c.4846C>T (p.Gln1616Ter)SNV Pathogenic 41319 rs312262762 15:44881510-44881510 15:44589312-44589312
31 SPG11 NM_025137.4(SPG11):c.5255del (p.Phe1752fs)deletion Pathogenic 41320 rs312262763 15:44876623-44876623 15:44584425-44584425
32 SPG11 NM_025137.4(SPG11):c.5399_5402delinsTGGAGGAG (p.Gln1800fs)indel Pathogenic 41322 rs312262765 15:44876476-44876479 15:44584278-44584281
33 SPG11 NM_025137.4(SPG11):c.5408_5409TG[1] (p.Cys1804fs)short repeat Pathogenic 41323 rs312262766 15:44876467-44876468 15:44584269-44584270
34 SPG11 NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter)SNV Pathogenic 41324 rs312262767 15:44876408-44876408 15:44584210-44584210
35 SPG11 NM_025137.4(SPG11):c.5532_5533del (p.Lys1845fs)deletion Pathogenic 41325 rs312262768 15:44876345-44876346 15:44584147-44584148
36 SPG11 NM_025137.4(SPG11):c.5703del (p.His1902fs)deletion Pathogenic 41326 rs312262769 15:44876175-44876175 15:44583977-44583977
37 SPG11 NM_025137.4(SPG11):c.5769del (p.Ser1923fs)deletion Pathogenic 41327 rs312262770 15:44876109-44876109 15:44583911-44583911
38 SPG11 NM_025137.4(SPG11):c.5798del (p.Ala1933fs)deletion Pathogenic 41328 rs312262771 15:44876080-44876080 15:44583882-44583882
39 SPG11 NM_025137.3(SPG11):c.5867-3237_6478-451del8323deletion Pathogenic 41329 15:44862154-44870476 15:44569956-44578278
40 SPG11 NM_025137.4(SPG11):c.5870C>G (p.Ser1957Ter)SNV Pathogenic 41330 rs312262772 15:44867236-44867236 15:44575038-44575038
41 SPG11 NM_025137.3:c.5898+5493_6509-491deldeletion Pathogenic 41331
42 SPG11 NM_025137.4(SPG11):c.5970C>G (p.Tyr1990Ter)SNV Pathogenic 41332 rs312262773 15:44867136-44867136 15:44574938-44574938
43 SPG11 NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)SNV Pathogenic 41333 rs200793464 15:44867132-44867132 15:44574934-44574934
44 SPG11 NM_025137.4(SPG11):c.5977C>T (p.Gln1993Ter)SNV Pathogenic 41334 rs312262774 15:44867129-44867129 15:44574931-44574931
45 SPG11 NM_025137.4(SPG11):c.5985_5988CTGT[1] (p.Leu1997fs)short repeat Pathogenic 41335 rs312262776 15:44867114-44867117 15:44574916-44574919
46 SPG11 NM_025137.4(SPG11):c.5986dup (p.Cys1996fs)duplication Pathogenic 41336 rs312262775 15:44867119-44867120 15:44574921-44574922
47 SPG11 NM_025137.3:c.5987_5990dupCTCTduplication Pathogenic 41337
48 SPG11 NM_025137.4(SPG11):c.5992dup (p.Tyr1998fs)duplication Pathogenic 41339 rs312262777 15:44867113-44867114 15:44574915-44574916
49 SPG11 NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)SNV Pathogenic 41340 rs147713329 15:44865859-44865859 15:44573661-44573661
50 SPG11 NM_025137.4(SPG11):c.1668del (p.Phe556fs)deletion Pathogenic 41278 rs312262731 15:44925770-44925770 15:44633572-44633572

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

73
# Symbol AA change Variation ID SNP ID
1 SPG11 p.Phe1349Ile VAR_058417

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

Sources for Spastic Paraplegia 11, Autosomal Recessive

3 CDC
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11 DGIdb
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