MCID: SPS092
MIFTS: 26

Spastic Paraplegia 11

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

Aliases & Classifications for Spastic Paraplegia 11

MalaCards integrated aliases for Spastic Paraplegia 11:

Name: Spastic Paraplegia 11 23 49
Nakamura Osame Syndrome 49 69
Autosomal Recessive Spastic Paraplegia with Mental Impairment and Thin Corpus Callosum 24
Autosomal Recessive Spastic Paraplegia Complicated with Thin Corpus Callosum 24
Hereditary Spastic Paraplegia Mental Impairment and Thin Corpus Callosum 49
Spg11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum 24
Spastic Paraplegia - Intellectual Deficit - Thin Corpus Callosum 49
Autosomal Recessive Spastic Paraplegia Type 11 49
Spastic Paraplegia 11, Autosomal Recessive 69
Hereditary Spastic Paraplegia 11 49
Spastic Paraplegia Type 11 24
Hsp-Tcc 24
Spg11 49

Classifications:



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Summaries for Spastic Paraplegia 11

NIH Rare Diseases : 49 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 spastic paraplegia 11, autosomal recessive and paraplegia, and has symptoms including abnormal pyramidal signs, urgency of micturition and ataxia. 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 : 24 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 3, Autosomal Dominant Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23 Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 1
Spastic Paraplegia 10 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 15 Spastic Paraplegia 16
Spastic Paraplegia 17 Spastic Paraplegia 18
Spastic Paraplegia 19 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
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:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 11, autosomal recessive 12.6
2 paraplegia 10.1
3 spasticity 10.1
4 amyotrophic lateral sclerosis 1 9.9
5 hereditary spastic paraplegia 9.9
6 lateral sclerosis 9.9
7 neuronitis 9.9

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:


abnormal pyramidal signs, urgency of micturition, ataxia

Drugs & Therapeutics for Spastic Paraplegia 11

Search Clinical Trials , 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:

38
Brain, Spinal Cord

Publications for Spastic Paraplegia 11

Articles related to Spastic Paraplegia 11:

# 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 117)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPG11 NM_025137.3(SPG11): c.1203delA (p.Asp402Ilefs) deletion Pathogenic rs312262722 GRCh37 Chromosome 15, 44943942: 44943942
2 SPG11 NM_025137.3(SPG11): c.1235C> G (p.Ser412Ter) single nucleotide variant Pathogenic rs312262723 GRCh37 Chromosome 15, 44943910: 44943910
3 SPG11 NM_025137.3(SPG11): c.1282A> T (p.Lys428Ter) single nucleotide variant Pathogenic rs312262724 GRCh37 Chromosome 15, 44943863: 44943863
4 SPG11 NM_025137.3(SPG11): c.1457-2A> G single nucleotide variant Pathogenic rs312262726 GRCh37 Chromosome 15, 44941211: 44941211
5 SPG11 NM_025137.3(SPG11): c.1471_1472delCT (p.Leu491Aspfs) deletion Pathogenic rs312262727 GRCh37 Chromosome 15, 44941194: 44941195
6 SPG11 NM_025137.3(SPG11): c.1549_1550delCT (p.Cys518Serfs) deletion Pathogenic rs312262729 GRCh37 Chromosome 15, 44941116: 44941117
7 SPG11 NM_025137.3(SPG11): c.1550_1551delTT (p.Cys518Serfs) deletion Pathogenic rs312262730 GRCh37 Chromosome 15, 44941115: 44941116
8 SPG11 NM_025137.3(SPG11): c.1668delT (p.Phe556Leufs) deletion Pathogenic rs312262731 GRCh37 Chromosome 15, 44925770: 44925770
9 SPG11 NM_025137.3(SPG11): c.1679C> G (p.Ser560Ter) single nucleotide variant Pathogenic rs312262732 GRCh37 Chromosome 15, 44925759: 44925759
10 SPG11 NM_025137.3(SPG11): c.1697_1712del16insTACTCCCAT (p.Asp566Valfs) indel Pathogenic GRCh37 Chromosome 15, 44925726: 44925741
11 SPG11 NM_025137.3(SPG11): c.1735+3_1735+6delAAGT deletion Pathogenic/Likely pathogenic rs312262734 GRCh37 Chromosome 15, 44925697: 44925700
12 SPG11 NM_025137.3(SPG11): c.1837_1838insA (p.Leu613Hisfs) insertion Pathogenic rs312262735 GRCh37 Chromosome 15, 44921484: 44921485
13 SPG11 NM_025137.3(SPG11): c.1845_1846delGT (p.Ser616Phefs) deletion Pathogenic rs312262736 GRCh37 Chromosome 15, 44921476: 44921477
14 SPG11 NM_025137.3(SPG11): c.1951C> T (p.Arg651Ter) single nucleotide variant Pathogenic rs199588440 GRCh37 Chromosome 15, 44920983: 44920983
15 SPG11 NM_025137.3(SPG11): c.2146C> T (p.Gln716Ter) single nucleotide variant Pathogenic/Likely pathogenic rs312262737 GRCh37 Chromosome 15, 44918627: 44918627
16 SPG11 NM_025137.3(SPG11): c.2163dupT (p.Ile722Tyrfs) duplication Pathogenic rs312262738 GRCh37 Chromosome 15, 44918610: 44918610
17 SPG11 NM_025137.3(SPG11): c.2198T> G (p.Leu733Ter) single nucleotide variant Pathogenic rs312262739 GRCh37 Chromosome 15, 44918575: 44918575
18 SPG11 NM_025137.3(SPG11): c.2316+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs312262740 GRCh37 Chromosome 15, 44914925: 44914925
19 SPG11 NM_025137.3(SPG11): c.2355_2356delAG (p.Arg788Asnfs) deletion Pathogenic rs312262741 GRCh37 Chromosome 15, 44914506: 44914507
20 SPG11 NM_025137.3(SPG11): c.2444+1G> C single nucleotide variant Pathogenic rs312262743 GRCh37 Chromosome 15, 44914417: 44914417
21 SPG11 NM_025137.3(SPG11): c.2444G> T (p.Arg815Met) single nucleotide variant Pathogenic rs312262742 GRCh37 Chromosome 15, 44914418: 44914418
22 SPG11 NM_025137.3(SPG11): c.2608A> G (p.Ile870Val) single nucleotide variant Pathogenic rs312262745 GRCh37 Chromosome 15, 44913969: 44913969
23 SPG11 NM_025137.3(SPG11): c.267G> A (p.Trp89Ter) single nucleotide variant Pathogenic rs312262709 GRCh37 Chromosome 15, 44952805: 44952805
24 SPG11 NM_025137.3(SPG11): c.268G> T (p.Glu90Ter) single nucleotide variant Pathogenic rs312262710 GRCh37 Chromosome 15, 44952804: 44952804
25 SPG11 NM_025137.3(SPG11): c.2697G> A (p.Trp899Ter) single nucleotide variant Pathogenic rs312262746 GRCh37 Chromosome 15, 44912525: 44912525
26 SPG11 NM_025137.3(SPG11): c.2716delC (p.Gln906Serfs) deletion Pathogenic rs312262747 GRCh37 Chromosome 15, 44912506: 44912506
27 SPG11 NM_025137.3(SPG11): c.2833A> G (p.Arg945Gly) single nucleotide variant Pathogenic rs312262748 GRCh37 Chromosome 15, 44912389: 44912389
28 SPG11 NM_025137.3(SPG11): c.2834+1G> T single nucleotide variant Pathogenic rs312262749 GRCh37 Chromosome 15, 44912387: 44912387
29 SPG11 NM_025137.3(SPG11): c.2842_2843insG (p.Val948Glyfs) insertion Pathogenic rs312262750 GRCh37 Chromosome 15, 44907757: 44907757
30 SPG11 NM_025137.3(SPG11): c.2849_2850insT (p.Leu950Phefs) insertion Pathogenic rs312262751 GRCh37 Chromosome 15, 44907750: 44907750
31 SPG11 NM_025137.3(SPG11): c.3145_3146insCA (p.Asp1049Alafs) insertion Pathogenic
32 SPG11 NM_025137.3(SPG11): c.3291+1G> T single nucleotide variant Pathogenic rs312262753 GRCh37 Chromosome 15, 44903037: 44903037
33 SPG11 NM_025137.3(SPG11): c.349G> T (p.Glu117Ter) single nucleotide variant Pathogenic rs312262711 GRCh37 Chromosome 15, 44952723: 44952723
34 SPG11 NM_025137.3(SPG11): c.359delT (p.Leu120Terfs) deletion Pathogenic rs312262712 GRCh37 Chromosome 15, 44952713: 44952713
35 SPG11 NM_025137.3(SPG11): c.3602_3603delAT (p.Tyr1201Leufs) deletion Pathogenic rs312262754 GRCh37 Chromosome 15, 44892748: 44892749
36 SPG11 NM_025137.3(SPG11): c.3664_3665insT (p.Lys1222Ilefs) insertion Pathogenic rs312262755 GRCh37 Chromosome 15, 44892686: 44892687
37 SPG11 NM_025137.3(SPG11): c.3719_3720delTA (p.Ile1240Argfs) deletion Pathogenic rs312262756 GRCh37 Chromosome 15, 44891001: 44891002
38 SPG11 NM_025137.3(SPG11): c.3741_3742insA (p.Pro1248Thrfs) insertion Pathogenic rs312262757 GRCh37 Chromosome 15, 44890980: 44890980
39 SPG11 NM_025137.3(SPG11): c.398delG (p.Cys133Leufs) deletion Pathogenic rs312262713 GRCh37 Chromosome 15, 44952674: 44952674
40 SPG11 NM_025137.3(SPG11): c.4046T> A (p.Phe1349Tyr) single nucleotide variant Pathogenic rs312262758 GRCh37 Chromosome 15, 44889097: 44889097
41 SPG11 NM_025137.3(SPG11): c.408_428del21 (p.Glu136_Ile142del) deletion Pathogenic rs312262714 GRCh37 Chromosome 15, 44952644: 44952664
42 SPG11 NM_025137.3(SPG11): c.4307_4308delAA (p.Gln1436Argfs) deletion Pathogenic rs312262759 GRCh37 Chromosome 15, 44888407: 44888408
43 SPG11 NM_025137.3(SPG11): c.4461_4462delTG (p.Val1488Leufs) deletion Pathogenic rs587777921 GRCh37 Chromosome 15, 44887630: 44887631
44 SPG11 NM_025137.3(SPG11): c.4668T> A (p.Tyr1556Ter) single nucleotide variant Pathogenic rs312262761 GRCh37 Chromosome 15, 44884604: 44884604
45 SPG11 NM_025137.3(SPG11): c.4846C> T (p.Gln1616Ter) single nucleotide variant Pathogenic rs312262762 GRCh37 Chromosome 15, 44881510: 44881510
46 SPG11 NM_025137.3(SPG11): c.5255delT (p.Phe1752Serfs) deletion Pathogenic rs312262763 GRCh37 Chromosome 15, 44876623: 44876623
47 SPG11 NM_025137.3(SPG11): c.5399_5402delAGATinsTGGAGGAG (p.Gln1800Leufs) indel Pathogenic rs312262765 GRCh37 Chromosome 15, 44876476: 44876479
48 SPG11 NM_025137.3(SPG11): c.5410_5411delTG (p.Cys1804Profs) deletion Pathogenic rs312262766 GRCh37 Chromosome 15, 44876467: 44876468
49 SPG11 NM_025137.3(SPG11): c.5470C> T (p.Arg1824Ter) single nucleotide variant Pathogenic rs312262767 GRCh37 Chromosome 15, 44876408: 44876408
50 SPG11 NM_025137.3(SPG11): c.5532_5533delCA (p.Lys1845Valfs) deletion Pathogenic rs312262768 GRCh37 Chromosome 15, 44876345: 44876346

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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