MCID: SPS039
MIFTS: 25

Spastic Paraplegia 5a

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

Aliases & Classifications for Spastic Paraplegia 5a

MalaCards integrated aliases for Spastic Paraplegia 5a:

Name: Spastic Paraplegia 5a 53 25 29 6
Spastic Paraplegia Type 5a 53 25
Spg5a 53 25
Spastic Paraplegia 5a, Autosomal Recessive 73
Autosomal Recessive Spastic Paraplegia 5a 25
Autosomal Recessive Spastic Paraplegia 53
Spastic Paraplegia Type 5a, Recessive 73

Classifications:



External Ids:

Summaries for Spastic Paraplegia 5a

Genetics Home Reference : 25 Spastic paraplegia type 5A is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by muscle stiffness (spasticity) and severe weakness in the lower limbs (paraplegia). Hereditary spastic paraplegias are often divided into two types: pure and complex. The pure types involve spasticity and weakness only in the lower limbs, while the complex types involve additional problems with other areas of the body; additional features can include changes in vision, changes in intellectual functioning, brain abnormalities, and disturbances in nerve function (neuropathy). Spastic paraplegia type 5A is usually a pure hereditary spastic paraplegia, although complex type features have been reported in some individuals, usually in those who have had the condition for many years.

MalaCards based summary : Spastic Paraplegia 5a, also known as spastic paraplegia type 5a, is related to spastic paraplegia 76, autosomal recessive and spastic paraplegia 24, autosomal recessive. An important gene associated with Spastic Paraplegia 5a is CYP7B1 (Cytochrome P450 Family 7 Subfamily B Member 1). Affiliated tissues include brain.

Related Diseases for Spastic Paraplegia 5a

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 5a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 76, autosomal recessive 32.5 CYP7B1 GBA2
2 spastic paraplegia 24, autosomal recessive 31.5 CYP7B1 SPG24
3 spastic paraplegia 5a, autosomal recessive 12.6
4 autosomal recessive spastic paraplegia type 67 12.1
5 autosomal recessive spastic paraplegia type 60 12.1
6 autosomal recessive spastic paraplegia type 59 12.1
7 autosomal recessive spastic paraplegia type 68 12.1
8 autosomal recessive spastic paraplegia type 69 12.1
9 autosomal recessive spastic paraplegia type 70 12.1
10 autosomal recessive spastic paraplegia type 71 12.1
11 autosomal recessive spastic paraplegia type 66 12.1
12 spastic paraplegia 28, autosomal recessive 11.9
13 spastic paraplegia 49, autosomal recessive 11.9
14 spastic paraplegia 56, autosomal recessive 11.9
15 spastic paraplegia 54, autosomal recessive 11.9
16 spastic paraplegia 43, autosomal recessive 11.9
17 spastic paraplegia 74, autosomal recessive 11.9
18 spastic paraplegia 35, autosomal recessive 11.8
19 spastic paraplegia 72, autosomal recessive 11.8
20 mast syndrome 11.8
21 spastic paraplegia 77, autosomal recessive 11.8
22 spastic paraplegia 39, autosomal recessive 11.8
23 spastic paraplegia 79, autosomal recessive 11.8
24 spastic paraplegia 15, autosomal recessive 11.6
25 spastic paraplegia 11, autosomal recessive 11.6
26 spastic paraplegia 45, autosomal recessive 11.6
27 spastic paraplegia 20, autosomal recessive 11.6
28 spastic paraplegia 48, autosomal recessive 11.5
29 spastic paraplegia 46, autosomal recessive 11.5
30 spastic paraplegia 53, autosomal recessive 11.5
31 spastic paraplegia 64, autosomal recessive 11.5
32 spastic paraplegia 61, autosomal recessive 11.5
33 spastic paraplegia 62, autosomal recessive 11.5
34 spastic paraplegia 63, autosomal recessive 11.5
35 spastic paraplegia 47, autosomal recessive 11.5
36 spastic paraplegia 52, autosomal recessive 11.5
37 spastic paraplegia 25, autosomal recessive 11.5
38 spastic paraplegia 30, autosomal recessive 11.5
39 spastic paraplegia 44, autosomal recessive 11.4
40 spastic paraplegia 51, autosomal recessive 11.4
41 spastic paraplegia 14, autosomal recessive 11.4
42 spastic paraplegia 27, autosomal recessive 11.4
43 spastic paraplegia 55, autosomal recessive 11.4
44 spastic paraplegia 50, autosomal recessive 11.4
45 spastic paraplegia 57, autosomal recessive 11.4
46 spastic paraplegia 15 11.4
47 spastic paraplegia 75, autosomal recessive 11.4
48 spastic paraplegia 7, autosomal recessive 11.4
49 spastic paraplegia 18, autosomal recessive 11.3
50 spastic paraplegia 73, autosomal dominant 10.0 CYP7B1 GBA2

Graphical network of the top 20 diseases related to Spastic Paraplegia 5a:



Diseases related to Spastic Paraplegia 5a

Symptoms & Phenotypes for Spastic Paraplegia 5a

Drugs & Therapeutics for Spastic Paraplegia 5a

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 5a

Genetic Tests for Spastic Paraplegia 5a

Genetic tests related to Spastic Paraplegia 5a:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 5a 29 CYP7B1

Anatomical Context for Spastic Paraplegia 5a

MalaCards organs/tissues related to Spastic Paraplegia 5a:

41
Brain

Publications for Spastic Paraplegia 5a

Articles related to Spastic Paraplegia 5a:

# Title Authors Year
1
CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A. ( 24117163 )
2013

Variations for Spastic Paraplegia 5a

ClinVar genetic disease variations for Spastic Paraplegia 5a:

6
(show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP7B1 NM_004820.4(CYP7B1): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs72554620 GRCh37 Chromosome 8, 65517310: 65517310
2 CYP7B1 NM_004820.4(CYP7B1): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs72554620 GRCh38 Chromosome 8, 64604753: 64604753
3 CYP7B1 NM_004820.4(CYP7B1): c.1088C> T (p.Ser363Phe) single nucleotide variant Pathogenic rs121908610 GRCh37 Chromosome 8, 65517384: 65517384
4 CYP7B1 NM_004820.4(CYP7B1): c.1088C> T (p.Ser363Phe) single nucleotide variant Pathogenic rs121908610 GRCh38 Chromosome 8, 64604827: 64604827
5 CYP7B1 NM_004820.4(CYP7B1): c.169G> A (p.Gly57Arg) single nucleotide variant Pathogenic rs121908614 GRCh37 Chromosome 8, 65537050: 65537050
6 CYP7B1 NM_004820.4(CYP7B1): c.169G> A (p.Gly57Arg) single nucleotide variant Pathogenic rs121908614 GRCh38 Chromosome 8, 64624493: 64624493
7 CYP7B1 NM_004820.4(CYP7B1): c.1250G> A (p.Arg417His) single nucleotide variant Pathogenic rs121908611 GRCh37 Chromosome 8, 65509470: 65509470
8 CYP7B1 NM_004820.4(CYP7B1): c.1250G> A (p.Arg417His) single nucleotide variant Pathogenic rs121908611 GRCh38 Chromosome 8, 64596913: 64596913
9 CYP7B1 NM_004820.4(CYP7B1): c.647T> C (p.Phe216Ser) single nucleotide variant Pathogenic rs121908612 GRCh37 Chromosome 8, 65528451: 65528451
10 CYP7B1 NM_004820.4(CYP7B1): c.647T> C (p.Phe216Ser) single nucleotide variant Pathogenic rs121908612 GRCh38 Chromosome 8, 64615894: 64615894
11 CYP7B1 NM_004820.4(CYP7B1): c.825T> A (p.Tyr275Ter) single nucleotide variant Pathogenic rs121908613 GRCh37 Chromosome 8, 65528273: 65528273
12 CYP7B1 NM_004820.4(CYP7B1): c.825T> A (p.Tyr275Ter) single nucleotide variant Pathogenic rs121908613 GRCh38 Chromosome 8, 64615716: 64615716
13 CYP7B1 NM_004820.4(CYP7B1): c.1408T> A (p.Phe470Ile) single nucleotide variant Pathogenic rs267606758 GRCh37 Chromosome 8, 65509312: 65509312
14 CYP7B1 NM_004820.4(CYP7B1): c.1408T> A (p.Phe470Ile) single nucleotide variant Pathogenic rs267606758 GRCh38 Chromosome 8, 64596755: 64596755
15 CYP7B1 NM_004820.4(CYP7B1): c.260G> T (p.Gly87Val) single nucleotide variant Pathogenic rs587777221 GRCh37 Chromosome 8, 65528838: 65528838
16 CYP7B1 NM_004820.4(CYP7B1): c.260G> T (p.Gly87Val) single nucleotide variant Pathogenic rs587777221 GRCh38 Chromosome 8, 64616281: 64616281
17 CYP7B1 NM_004820.4(CYP7B1): c.889A> G (p.Thr297Ala) single nucleotide variant Pathogenic/Likely pathogenic rs587777222 GRCh37 Chromosome 8, 65527751: 65527751
18 CYP7B1 NM_004820.4(CYP7B1): c.889A> G (p.Thr297Ala) single nucleotide variant Pathogenic/Likely pathogenic rs587777222 GRCh38 Chromosome 8, 64615194: 64615194
19 CYP7B1 NM_004820.4(CYP7B1): c.259+2T> C single nucleotide variant Pathogenic rs751713917 GRCh37 Chromosome 8, 65536958: 65536958
20 CYP7B1 NM_004820.4(CYP7B1): c.259+2T> C single nucleotide variant Pathogenic rs751713917 GRCh38 Chromosome 8, 64624401: 64624401
21 GBA2 NM_020944.2(GBA2): c.1495G> A (p.Glu499Lys) single nucleotide variant Uncertain significance rs35818148 GRCh38 Chromosome 9, 35739715: 35739715
22 GBA2 NM_020944.2(GBA2): c.1495G> A (p.Glu499Lys) single nucleotide variant Uncertain significance rs35818148 GRCh37 Chromosome 9, 35739712: 35739712
23 GBA2 NM_020944.2(GBA2): c.786+9C> A single nucleotide variant Conflicting interpretations of pathogenicity rs374309697 GRCh38 Chromosome 9, 35741663: 35741663
24 GBA2 NM_020944.2(GBA2): c.786+9C> A single nucleotide variant Conflicting interpretations of pathogenicity rs374309697 GRCh37 Chromosome 9, 35741660: 35741660
25 CYP2U1 NM_183075.2(CYP2U1): c.370C> T (p.His124Tyr) single nucleotide variant Uncertain significance rs1048541745 GRCh37 Chromosome 4, 108853169: 108853169
26 CYP2U1 NM_183075.2(CYP2U1): c.370C> T (p.His124Tyr) single nucleotide variant Uncertain significance rs1048541745 GRCh38 Chromosome 4, 107932013: 107932013
27 ALDH18A1 NM_002860.3(ALDH18A1): c.2231C> G (p.Ser744Trp) single nucleotide variant Likely pathogenic rs762271422 GRCh38 Chromosome 10, 95606919: 95606919
28 ALDH18A1 NM_002860.3(ALDH18A1): c.2231C> G (p.Ser744Trp) single nucleotide variant Likely pathogenic rs762271422 GRCh37 Chromosome 10, 97366676: 97366676

Expression for Spastic Paraplegia 5a

Search GEO for disease gene expression data for Spastic Paraplegia 5a.

Pathways for Spastic Paraplegia 5a

GO Terms for Spastic Paraplegia 5a

Sources for Spastic Paraplegia 5a

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
Content
Loading form....