MCID: SPS092
MIFTS: 25

Spastic Paraplegia 11

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

Aliases & Classifications for Spastic Paraplegia 11

MalaCards integrated aliases for Spastic Paraplegia 11:

Name: Spastic Paraplegia 11 23 50 24
Nakamura Osame Syndrome 50 69
Spg11 50 24
Autosomal Recessive Spastic Paraplegia with Mental Impairment and Thin Corpus Callosum 25
Autosomal Recessive Spastic Paraplegia Complicated with Thin Corpus Callosum 25
Hereditary Spastic Paraplegia Mental Impairment and Thin Corpus Callosum 50
Spg11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum 25
Spastic Paraplegia - Intellectual Deficit - Thin Corpus Callosum 50
Autosomal Recessive Spastic Paraplegia Type 11 50
Spastic Paraplegia 11, Autosomal Recessive 69
Hereditary Spastic Paraplegia 11 50
Spastic Paraplegia Type 11 25
Hsp-Tcc 25
Hsp11 24

Classifications:



Summaries for Spastic Paraplegia 11

NIH Rare Diseases : 50 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. last updated: 5/31/2016

MalaCards based summary : Spastic Paraplegia 11, also known as nakamura osame syndrome, is related to spg11-related hereditary spastic paraplegia with thin corpus callosum and spastic paraplegia 11, autosomal recessive, and has symptoms including ataxia, abnormal pyramidal signs and lower limb muscle weakness. An important gene associated with Spastic Paraplegia 11 is SPG11 (SPG11, Spatacsin Vesicle Trafficking Associated). Affiliated tissues include brain and spinal cord.

Genetics Home Reference : 25 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.

GeneReviews: NBK1210

Related Diseases for Spastic Paraplegia 11

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 78, Autosomal Recessive Spastic Paraplegia 29, Autosomal Dominant
Spastic Paraplegia 63 Spastic Paraplegia 47, Autosomal Recessive
Spastic Paraplegia 23 Spastic Paraplegia 44, Autosomal Recessive
Spastic Paraplegia 74, Autosomal Recessive Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 13, Autosomal Dominant
Spastic Paraplegia 30, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 38, Autosomal Dominant Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 72, Autosomal Recessive
Spastic Paraplegia 77, Autosomal Recessive Spastic Paraplegia 25, Autosomal Recessive
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 53, Autosomal Recessive Spastic Paraplegia 37, Autosomal Dominant
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 18, Autosomal Recessive
Spastic Paraplegia 5a, Autosomal Recessive Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 27, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 33, Autosomal Dominant Spastic Paraplegia 9a, Autosomal Dominant
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 62 Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 10, Autosomal Dominant
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 36, Autosomal Dominant
Spastic Paraplegia 55, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 3a, Autosomal Dominant Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 32, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 15, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 6, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 51, Autosomal Recessive Spastic Paraplegia 61, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 7, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive Spastic Paraplegia 43, Autosomal Recessive
Spastic Paraplegia 75, Autosomal Recessive Spastic Paraplegia 12, Autosomal Dominant
Spastic Paraplegia 73, Autosomal Dominant Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 3a Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 62 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 28 Spastic Paraplegia 30
Spastic Paraplegia 33 Spastic Paraplegia 35
Spastic Paraplegia 42 Spastic Paraplegia 43
Spastic Paraplegia 45 Spastic Paraplegia 46
Spastic Paraplegia 47 Spastic Paraplegia 48
Spastic Paraplegia 49 Spastic Paraplegia 50
Spastic Paraplegia 52 Spastic Paraplegia 53
Spastic Paraplegia 54 Spastic Paraplegia 55
Spastic Paraplegia 56 Spastic Paraplegia 57
Spastic Paraplegia 59 Spastic Paraplegia 61
Spastic Paraplegia 64 Spastic Paraplegia 66
Spastic Paraplegia 72 Spastic Paraplegia 75
Spastic Paraplegia 76 Spastic Paraplegia 44
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

Diseases related to Spastic Paraplegia 11 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 spg11-related hereditary spastic paraplegia with thin corpus callosum 12.4
2 spastic paraplegia 11, autosomal recessive 12.3
3 spasticity 10.1
4 paraplegia 10.1
5 hereditary spastic paraplegia 9.8
6 lateral sclerosis 9.8
7 neuronitis 9.8

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, abnormal pyramidal signs, lower limb muscle weakness

Drugs & Therapeutics for Spastic Paraplegia 11

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 The Effects of Passive Gait Training in Complete Motor Spinal Cord Injury (SCI) Completed NCT01349478 Phase 1, Phase 2
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
3 Multimodal Exercises to Improve Leg Function After Spinal Cord Injury Active, not recruiting NCT01740128

Search NIH Clinical Center for Spastic Paraplegia 11

Genetic Tests for Spastic Paraplegia 11

Genetic tests related to Spastic Paraplegia 11:

id Genetic test Affiliating Genes
1 Spastic Paraplegia 11 24 SPG11

Anatomical Context for Spastic Paraplegia 11

MalaCards organs/tissues related to Spastic Paraplegia 11:

39
Brain, Spinal Cord

Publications for Spastic Paraplegia 11

Articles related to Spastic Paraplegia 11:

id Title Authors Year
1
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions. ( 27016404 )
2016
2
Clinical variability and L-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11. ( 22893306 )
2012
3
Spastic Paraplegia 11 ( 20301389 )
1993

Variations for Spastic Paraplegia 11

ClinVar genetic disease variations for Spastic Paraplegia 11:

6 (show top 50) (show all 109)
id Gene Variation Type Significance SNP ID Assembly Location
1 SPG11 NM_025137.3(SPG11): c.6100C> T (p.Arg2034Ter) single nucleotide variant Pathogenic rs118203963 GRCh37 Chromosome 15, 44865850: 44865850
2 SPG11 NM_025137.3(SPG11): c.529_533delATATT (p.Ile177Serfs) deletion Pathogenic rs312262716 GRCh37 Chromosome 15, 44951411: 44951415
3 SPG11 NM_025137.3(SPG11): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs267607084 GRCh37 Chromosome 15, 44955728: 44955728
4 SPG11 NM_025137.3(SPG11): c.733_734delAT (p.Met245Valfs) deletion Pathogenic rs312262720 GRCh37 Chromosome 15, 44949428: 44949429
5 SPG11 NM_025137.3(SPG11): c.2472_2473insT (p.Lys825Terfs) insertion Pathogenic rs312262744 GRCh37 Chromosome 15, 44914104: 44914105
6 SPG11 NM_025137.3(SPG11): c.442+1G> C single nucleotide variant Pathogenic rs312262715 GRCh37 Chromosome 15, 44952629: 44952629
7 SPG11 NM_025137.3(SPG11): c.7152-1G> C single nucleotide variant Pathogenic rs200079802 GRCh37 Chromosome 15, 44855500: 44855500
8 SPG11 NM_025137.3(SPG11): c.5623C> T (p.Gln1875Ter) single nucleotide variant Pathogenic rs141848292 GRCh37 Chromosome 15, 44876255: 44876255
9 SPG11 NM_025137.3(SPG11): c.3075dupA (p.Glu1026Argfs) duplication Pathogenic rs312262752 GRCh37 Chromosome 15, 44905698: 44905698
10 SPG11 NM_025137.3(SPG11): c.1203delA (p.Asp402Ilefs) deletion Pathogenic rs312262722 GRCh37 Chromosome 15, 44943942: 44943942
11 SPG11 NM_025137.3(SPG11): c.1235C> G (p.Ser412Ter) single nucleotide variant Pathogenic rs312262723 GRCh37 Chromosome 15, 44943910: 44943910
12 SPG11 NM_025137.3(SPG11): c.1282A> T (p.Lys428Ter) single nucleotide variant Pathogenic rs312262724 GRCh37 Chromosome 15, 44943863: 44943863
13 SPG11 NM_025137.3(SPG11): c.1457-2A> G single nucleotide variant Pathogenic rs312262726 GRCh37 Chromosome 15, 44941211: 44941211
14 SPG11 NM_025137.3(SPG11): c.1471_1472delCT (p.Leu491Aspfs) deletion Pathogenic rs312262727 GRCh37 Chromosome 15, 44941194: 44941195
15 SPG11 NM_025137.3(SPG11): c.1549_1550delCT (p.Cys518Serfs) deletion Pathogenic rs312262729 GRCh37 Chromosome 15, 44941116: 44941117
16 SPG11 NM_025137.3(SPG11): c.1550_1551delTT (p.Cys518Serfs) deletion Pathogenic rs312262730 GRCh37 Chromosome 15, 44941115: 44941116
17 SPG11 NM_025137.3(SPG11): c.1668delT (p.Phe556Leufs) deletion Pathogenic rs312262731 GRCh37 Chromosome 15, 44925770: 44925770
18 SPG11 NM_025137.3(SPG11): c.1679C> G (p.Ser560Ter) single nucleotide variant Pathogenic rs312262732 GRCh37 Chromosome 15, 44925759: 44925759
19 SPG11 NM_025137.3(SPG11): c.1697_1712del16insTACTCCCAT (p.Asp566Valfs) indel Pathogenic GRCh37 Chromosome 15, 44925726: 44925741
20 SPG11 NM_025137.3(SPG11): c.1735+3_1735+6delAAGT deletion Pathogenic/Likely pathogenic rs312262734 GRCh37 Chromosome 15, 44925697: 44925700
21 SPG11 NM_025137.3(SPG11): c.1837_1838insA (p.Leu613Hisfs) insertion Pathogenic rs312262735 GRCh37 Chromosome 15, 44921484: 44921485
22 SPG11 NM_025137.3(SPG11): c.1845_1846delGT (p.Ser616Phefs) deletion Pathogenic rs312262736 GRCh37 Chromosome 15, 44921476: 44921477
23 SPG11 NM_025137.3(SPG11): c.1951C> T (p.Arg651Ter) single nucleotide variant Pathogenic rs199588440 GRCh37 Chromosome 15, 44920983: 44920983
24 SPG11 NM_025137.3(SPG11): c.2146C> T (p.Gln716Ter) single nucleotide variant Pathogenic/Likely pathogenic rs312262737 GRCh37 Chromosome 15, 44918627: 44918627
25 SPG11 NM_025137.3(SPG11): c.2163dupT (p.Ile722Tyrfs) duplication Pathogenic rs312262738 GRCh37 Chromosome 15, 44918610: 44918610
26 SPG11 NM_025137.3(SPG11): c.2198T> G (p.Leu733Ter) single nucleotide variant Pathogenic rs312262739 GRCh37 Chromosome 15, 44918575: 44918575
27 SPG11 NM_025137.3(SPG11): c.2316+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs312262740 GRCh37 Chromosome 15, 44914925: 44914925
28 SPG11 NM_025137.3(SPG11): c.2355_2356delAG (p.Arg788Asnfs) deletion Pathogenic rs312262741 GRCh37 Chromosome 15, 44914506: 44914507
29 SPG11 NM_025137.3(SPG11): c.2444+1G> C single nucleotide variant Pathogenic rs312262743 GRCh37 Chromosome 15, 44914417: 44914417
30 SPG11 NM_025137.3(SPG11): c.2444G> T (p.Arg815Met) single nucleotide variant Pathogenic rs312262742 GRCh37 Chromosome 15, 44914418: 44914418
31 SPG11 NM_025137.3(SPG11): c.2608A> G (p.Ile870Val) single nucleotide variant Pathogenic rs312262745 GRCh37 Chromosome 15, 44913969: 44913969
32 SPG11 NM_025137.3(SPG11): c.267G> A (p.Trp89Ter) single nucleotide variant Pathogenic rs312262709 GRCh37 Chromosome 15, 44952805: 44952805
33 SPG11 NM_025137.3(SPG11): c.268G> T (p.Glu90Ter) single nucleotide variant Pathogenic rs312262710 GRCh37 Chromosome 15, 44952804: 44952804
34 SPG11 NM_025137.3(SPG11): c.2697G> A (p.Trp899Ter) single nucleotide variant Pathogenic rs312262746 GRCh37 Chromosome 15, 44912525: 44912525
35 SPG11 NM_025137.3(SPG11): c.2716delC (p.Gln906Serfs) deletion Pathogenic rs312262747 GRCh37 Chromosome 15, 44912506: 44912506
36 SPG11 NM_025137.3(SPG11): c.2833A> G (p.Arg945Gly) single nucleotide variant Pathogenic rs312262748 GRCh37 Chromosome 15, 44912389: 44912389
37 SPG11 NM_025137.3(SPG11): c.2834+1G> T single nucleotide variant Pathogenic rs312262749 GRCh37 Chromosome 15, 44912387: 44912387
38 SPG11 NM_025137.3(SPG11): c.2842_2843insG (p.Val948Glyfs) insertion Pathogenic rs312262750 GRCh37 Chromosome 15, 44907757: 44907757
39 SPG11 NM_025137.3(SPG11): c.2849_2850insT (p.Leu950Phefs) insertion Pathogenic rs312262751 GRCh37 Chromosome 15, 44907750: 44907750
40 SPG11 NM_025137.3(SPG11): c.3145_3146insCA (p.Asp1049Alafs) insertion Pathogenic
41 SPG11 NM_025137.3(SPG11): c.3291+1G> T single nucleotide variant Pathogenic rs312262753 GRCh37 Chromosome 15, 44903037: 44903037
42 SPG11 NM_025137.3(SPG11): c.349G> T (p.Glu117Ter) single nucleotide variant Pathogenic rs312262711 GRCh37 Chromosome 15, 44952723: 44952723
43 SPG11 NM_025137.3(SPG11): c.359delT (p.Leu120Terfs) deletion Pathogenic rs312262712 GRCh37 Chromosome 15, 44952713: 44952713
44 SPG11 NM_025137.3(SPG11): c.3602_3603delAT (p.Tyr1201Leufs) deletion Pathogenic rs312262754 GRCh37 Chromosome 15, 44892748: 44892749
45 SPG11 NM_025137.3(SPG11): c.3664_3665insT (p.Lys1222Ilefs) insertion Pathogenic rs312262755 GRCh37 Chromosome 15, 44892686: 44892687
46 SPG11 NM_025137.3(SPG11): c.3719_3720delTA (p.Ile1240Argfs) deletion Pathogenic rs312262756 GRCh37 Chromosome 15, 44891001: 44891002
47 SPG11 NM_025137.3(SPG11): c.3741_3742insA (p.Pro1248Thrfs) insertion Pathogenic rs312262757 GRCh37 Chromosome 15, 44890980: 44890980
48 SPG11 NM_025137.3(SPG11): c.398delG (p.Cys133Leufs) deletion Pathogenic rs312262713 GRCh37 Chromosome 15, 44952674: 44952674
49 SPG11 NM_025137.3(SPG11): c.4046T> A (p.Phe1349Tyr) single nucleotide variant Pathogenic rs312262758 GRCh37 Chromosome 15, 44889097: 44889097
50 SPG11 NM_025137.3(SPG11): c.408_428del21 (p.Glu136_Ile142del) deletion Pathogenic rs312262714 GRCh37 Chromosome 15, 44952644: 44952664

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

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