MCID: SPS092
MIFTS: 29

Spastic Paraplegia 11

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

Aliases & Classifications for Spastic Paraplegia 11

MalaCards integrated aliases for Spastic Paraplegia 11:

Name: Spastic Paraplegia 11 25 54
Nakamura Osame Syndrome 54 74
Autosomal Recessive Spastic Paraplegia with Mental Impairment and Thin Corpus Callosum 26
Autosomal Recessive Spastic Paraplegia Complicated with Thin Corpus Callosum 26
Hereditary Spastic Paraplegia Mental Impairment and Thin Corpus Callosum 54
Spg11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum 26
Spastic Paraplegia - Intellectual Deficit - Thin Corpus Callosum 54
Autosomal Recessive Spastic Paraplegia Type 11 54
Spastic Paraplegia 11, Autosomal Recessive 74
Hereditary Spastic Paraplegia 11 54
Spastic Paraplegia Type 11 26
Hsp-Tcc 26
Spg11 54

Classifications:



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Summaries for Spastic Paraplegia 11

Genetics Home Reference : 26 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.

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

NIH Rare Diseases : 54 Spastic paraplegia 11 (SPG11) is a form of hereditary spastic paraplegia. People with SPG11 experience worsening muscle stiffness leading to eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms that may include intellectual disability, speech difficulties (dysarthria), and reduced bladder control. Additionally, the tissue connecting the left and right halves of the brain (corpus callosum) is abnormally thin in most individuals with SPG11. Onset of symptoms typically occurs during infancy or adolescence. SPG11 is caused by mutations in the SPG11 gene and is inherited in an autosomal recessive fashion. Treatment is focused on managing symptoms and may include physical therapy and antispastic medications to prolong muscle control.

GeneReviews: NBK1210

Related Diseases for Spastic Paraplegia 11

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23, Autosomal Recessive Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal 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 Hereditary Spastic Paraplegia 23
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 47
Spastic Paraplegia 51 Spastic Paraplegia 5a
Spastic Paraplegia 5b Spastic Paraplegia 6
Spastic Paraplegia 9 Spastic Paraplegia Type 49
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 69 Autosomal Recessive Spastic Paraplegia Type 70
Autosomal Recessive Spastic Paraplegia Type 71 Autosomal Recessive Spastic Paraplegia Type 66
Autosomal Recessive Spastic Paraplegia Type 67 Autosomal Dominant Spastic Paraplegia Type 9b

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

(show all 43)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 11, autosomal recessive 33.4 EIF3J SPG11
2 charcot-marie-tooth disease, axonal, type 2x 12.3
3 amyotrophic lateral sclerosis type 5 12.0
4 juvenile amyotrophic lateral sclerosis 11.7
5 spastic paraparesis 11.5
6 homocarnosinosis 11.5
7 axonal neuropathy 11.5
8 spastic paraplegia 15, autosomal recessive 11.5
9 spastic paraplegia 4, autosomal dominant 11.4
10 amyotrophic lateral sclerosis 5, juvenile 11.2
11 charcot-marie-tooth disease, axonal, type 2e 11.2
12 charcot-marie-tooth disease 11.2
13 spastic paraplegia 3, autosomal dominant 11.1
14 mast syndrome 11.1
15 parkinson disease 15, autosomal recessive early-onset 11.1
16 masa syndrome 11.1
17 spastic paraplegia 8, autosomal dominant 11.1
18 spastic paraplegia 10, autosomal dominant 11.1
19 hereditary motor and sensory neuropathy, type iic 11.1
20 spastic paraplegia 31, autosomal dominant 11.1
21 spastic paraplegia 32, autosomal recessive 11.1
22 spastic paraplegia 35, autosomal recessive 11.1
23 spastic paraplegia 46, autosomal recessive 11.1
24 spastic paraplegia 49, autosomal recessive 11.1
25 spastic paraplegia 57, autosomal recessive 11.1
26 amyotrophic lateral sclerosis type 6 11.1
27 multiple sclerosis 10.2
28 paraplegia 10.1
29 tarsal-carpal coalition syndrome 10.1
30 dystonia 10.1
31 amyotrophic lateral sclerosis 1 10.0
32 hereditary spastic paraplegia 10.0
33 intermittent claudication 10.0
34 lateral sclerosis 10.0
35 abetalipoproteinemia 10.0
36 spastic paraplegia 48, autosomal recessive 10.0
37 hypobetalipoproteinemia, familial, 1 10.0
38 motor neuron disease 10.0
39 dementia 10.0
40 retinal degeneration 10.0
41 neuropathy 10.0
42 spastic paraplegia 4 10.0
43 tremor 10.0

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



Diseases related to Spastic Paraplegia 11

Symptoms & Phenotypes for Spastic Paraplegia 11

UMLS symptoms related to Spastic Paraplegia 11:


ataxia, urgency of micturition, abnormal pyramidal signs

Drugs & Therapeutics for Spastic Paraplegia 11

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:

42
Brain, Spinal Cord, Skin, Bone, Eye

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

Variations for Spastic Paraplegia 11

Expression for Spastic Paraplegia 11

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

Pathways for Spastic Paraplegia 11

GO Terms for Spastic Paraplegia 11

Sources for Spastic Paraplegia 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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