MCID: SPS037
MIFTS: 18

Spastic Paraplegia 31

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

Aliases & Classifications for Spastic Paraplegia 31

MalaCards integrated aliases for Spastic Paraplegia 31:

Name: Spastic Paraplegia 31 49 24
Spastic Paraplegia 31, Autosomal Dominant 49 69
Spg31 49 24
Autosomal Dominant Spastic Paraplegia 31 24
Spastic Paraplegia Type 31 24

Classifications:



External Ids:

UMLS 69 C1853247

Summaries for Spastic Paraplegia 31

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 101011Disease definitionAutosomal dominant spastic paraplegia type 31 (SPG31) is a type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.Visit the Orphanet disease page for more resources. Last updated: 4/6/2017

MalaCards based summary : Spastic Paraplegia 31, also known as spastic paraplegia 31, autosomal dominant, is related to spastic paraplegia 31, autosomal dominant. An important gene associated with Spastic Paraplegia 31 is REEP1 (Receptor Accessory Protein 1). Affiliated tissues include brain.

Genetics Home Reference : 24 Spastic paraplegia type 31 is one 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) caused by degeneration of nerve cells (neurons) that trigger muscle movement. Hereditary spastic paraplegias are divided into two types: pure and complicated. The pure types involve only the lower limbs, while the complicated types also involve the upper limbs and other areas of the body, including the brain. Spastic paraplegia type 31 is usually a pure hereditary spastic paraplegia, although a few complicated cases have been reported.

Related Diseases for Spastic Paraplegia 31

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 31 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 31, autosomal dominant 12.5

Symptoms & Phenotypes for Spastic Paraplegia 31

Drugs & Therapeutics for Spastic Paraplegia 31

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31 Recruiting NCT02859428

Search NIH Clinical Center for Spastic Paraplegia 31

Genetic Tests for Spastic Paraplegia 31

Anatomical Context for Spastic Paraplegia 31

MalaCards organs/tissues related to Spastic Paraplegia 31:

38
Brain

Publications for Spastic Paraplegia 31

Articles related to Spastic Paraplegia 31:

# Title Authors Year
1
Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation. ( 28007911 )
2017
2
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. ( 21618648 )
2011
3
Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia. ( 19781397 )
2009
4
Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). ( 18644145 )
2008

Variations for Spastic Paraplegia 31

ClinVar genetic disease variations for Spastic Paraplegia 31:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 REEP1 NM_022912.2(REEP1): c.415A> T (p.Lys139Ter) single nucleotide variant Pathogenic rs786204081 GRCh37 Chromosome 2, 86479082: 86479082
2 REEP1 NM_022912.2(REEP1): c.512delC (p.Pro171Hisfs) deletion Pathogenic/Likely pathogenic rs387906263 GRCh37 Chromosome 2, 86459831: 86459831
3 REEP1 NM_022912.2(REEP1): c.183-2A> G single nucleotide variant Pathogenic rs387906264 GRCh37 Chromosome 2, 86481939: 86481939
4 REEP1 NM_022912.2(REEP1): c.59C> A (p.Ala20Glu) single nucleotide variant Pathogenic rs121918262 GRCh37 Chromosome 2, 86509339: 86509339
5 REEP1 NM_001164730.1(REEP1): c.358C> T (p.Arg120Ter) single nucleotide variant Pathogenic rs121918263 GRCh37 Chromosome 2, 86479160: 86479160
6 REEP1 NM_022912.2(REEP1): c.595+1G> A single nucleotide variant Pathogenic rs869312880 GRCh37 Chromosome 2, 86459747: 86459747
7 REEP1 NM_022912.2(REEP1): c.113G> A (p.Trp38Ter) single nucleotide variant Pathogenic rs1060503494 GRCh38 Chromosome 2, 86264034: 86264034
8 REEP1 NC_000002.12: g.(?_86263945)_(86264061_?)del deletion Pathogenic GRCh38 Chromosome 2, 86263945: 86264061

Expression for Spastic Paraplegia 31

Search GEO for disease gene expression data for Spastic Paraplegia 31.

Pathways for Spastic Paraplegia 31

GO Terms for Spastic Paraplegia 31

Sources for Spastic Paraplegia 31

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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