MCID: SPS092
MIFTS: 26

Spastic Paraplegia 11

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

Aliases & Classifications for Spastic Paraplegia 11

MalaCards integrated aliases for Spastic Paraplegia 11:

Name: Spastic Paraplegia 11 24 53
Nakamura Osame Syndrome 53 73
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 53
Spg11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum 25
Spastic Paraplegia - Intellectual Deficit - Thin Corpus Callosum 53
Autosomal Recessive Spastic Paraplegia Type 11 53
Spastic Paraplegia 11, Autosomal Recessive 73
Hereditary Spastic Paraplegia 11 53
Spastic Paraplegia Type 11 25
Hsp-Tcc 25
Spg11 53

Classifications:



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Summaries for Spastic Paraplegia 11

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.

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 ataxia, urgency of micturition and abnormal pyramidal signs. An important gene associated with Spastic Paraplegia 11 is SPG11 (SPG11, Spatacsin Vesicle Trafficking Associated). Affiliated tissues include brain and spinal cord.

NIH Rare Diseases : 53 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 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 32.4 EIF3J SPG11
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:


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:

41
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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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