MCID: SPS037
MIFTS: 16

Spastic Paraplegia 31

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

Aliases & Classifications for Spastic Paraplegia 31

MalaCards integrated aliases for Spastic Paraplegia 31:

Name: Spastic Paraplegia 31 50 24 25
Spg31 50 24 25
Spastic Paraplegia 31, Autosomal Dominant 50 69
Autosomal Dominant Spastic Paraplegia 31 25
Spastic Paraplegia Type 31 25
Spg 31 24
Hsp31 24

Classifications:



Summaries for Spastic Paraplegia 31

NIH Rare Diseases : 50 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 spg31, is related to spastic paraplegia 31, autosomal dominant, and has symptoms including lower limb muscle weakness An important gene associated with Spastic Paraplegia 31 is REEP1 (Receptor Accessory Protein 1). Affiliated tissues include brain.

Genetics Home Reference : 25 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 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 31 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 spastic paraplegia 31, autosomal dominant 12.4

Symptoms & Phenotypes for Spastic Paraplegia 31

UMLS symptoms related to Spastic Paraplegia 31:


lower limb muscle weakness

Drugs & Therapeutics for Spastic Paraplegia 31

Interventional clinical trials:


id 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

Genetic tests related to Spastic Paraplegia 31:

id Genetic test Affiliating Genes
1 Spastic Paraplegia 31 24 REEP1

Anatomical Context for Spastic Paraplegia 31

MalaCards organs/tissues related to Spastic Paraplegia 31:

39
Brain

Publications for Spastic Paraplegia 31

Variations for Spastic Paraplegia 31

ClinVar genetic disease variations for Spastic Paraplegia 31:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 REEP1 NM_022912.2(REEP1): c.512delC (p.Pro171Hisfs) deletion Pathogenic/Likely pathogenic rs387906263 GRCh37 Chromosome 2, 86459831: 86459831
2 REEP1 NM_022912.2(REEP1): c.183-2A> G single nucleotide variant Pathogenic rs387906264 GRCh37 Chromosome 2, 86481939: 86481939
3 REEP1 NM_022912.2(REEP1): c.59C> A (p.Ala20Glu) single nucleotide variant Pathogenic rs121918262 GRCh37 Chromosome 2, 86509339: 86509339
4 REEP1 NM_001164730.1(REEP1): c.358C> T (p.Arg120Ter) single nucleotide variant Pathogenic rs121918263 GRCh37 Chromosome 2, 86479160: 86479160
5 REEP1 NM_022912.2(REEP1): c.415A> T (p.Lys139Ter) single nucleotide variant Pathogenic rs786204081 GRCh37 Chromosome 2, 86479082: 86479082
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

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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