MCID: SPS039
MIFTS: 28

Spastic Paraplegia 5a

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin 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 72
Autosomal Recessive Spastic Paraplegia 5a 25
Autosomal Recessive Spastic Paraplegia 53
Spastic Paraplegia Type 5a, Recessive 72

Classifications:



External Ids:

UMLS 72 C1849115 C2931356

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. In addition to spasticity and weakness, people with spastic paraplegia type 5A can lose the ability to sense the position of their limbs or detect vibrations with their lower limbs. They may also have muscle wasting (amyotrophy), reduced bladder control, or high arches of the feet (pes cavus). The signs and symptoms of spastic paraplegia type 5A usually appear in adolescence but can begin at any time between infancy and mid-adulthood. The condition slowly worsens over time, often leading affected individuals to require walking support or wheelchair assistance.

MalaCards based summary : Spastic Paraplegia 5a, also known as spastic paraplegia type 5a, is related to spastic paraplegia 5a, autosomal recessive and spastic paraplegia 43, autosomal recessive. An important gene associated with Spastic Paraplegia 5a is CYP7B1 (Cytochrome P450 Family 7 Subfamily B Member 1). Affiliated tissues include brain and spinal cord.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 100986DefinitionAutosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.Visit the Orphanet disease page for more resources.

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, 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 23 Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 72 Hereditary Spastic Paraplegia
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 5a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 5a, autosomal recessive 34.9 CYP7B1 C19orf12
2 spastic paraplegia 43, autosomal recessive 33.8 CYP7B1 C19orf12
3 spastic paraplegia 56, autosomal recessive 33.7 GBA2 CYP2U1
4 spastic paraplegia 46, autosomal recessive 33.1 GBA2 CYP2U1
5 spastic paraplegia 24, autosomal recessive 32.8 SPG24 CYP7B1
6 spastic paraplegia 76, autosomal recessive 31.9 GBA2 CYP7B1
7 hereditary spastic paraplegia 29.6 GBA2 CYP7B1 CYP2U1 C19orf12 ALDH18A1
8 pure or complex autosomal recessive spastic paraplegia 12.5
9 spastic paraplegia 28, autosomal recessive 12.4
10 autosomal recessive spastic paraplegia type 60 12.4
11 autosomal recessive spastic paraplegia type 59 12.4
12 autosomal recessive spastic paraplegia type 69 12.4
13 autosomal recessive spastic paraplegia type 70 12.4
14 autosomal recessive spastic paraplegia type 71 12.4
15 autosomal recessive spastic paraplegia type 66 12.4
16 autosomal recessive spastic paraplegia type 67 12.4
17 spastic paraplegia 49, autosomal recessive 12.3
18 spastic paraplegia 54, autosomal recessive 12.2
19 spastic paraplegia 45, autosomal recessive 12.2
20 spastic paraplegia 39, autosomal recessive 12.2
21 spastic paraplegia 30, autosomal recessive 12.1
22 spastic paraplegia 15, autosomal recessive 12.1
23 spastic paraplegia 14, autosomal recessive 12.0
24 spastic paraplegia 32, autosomal recessive 12.0
25 spastic paraplegia 11 12.0
26 spastic paraplegia 20, autosomal recessive 11.9
27 spastic paraplegia 53, autosomal recessive 11.8
28 spastic paraplegia 55, autosomal recessive 11.8
29 spastic paraplegia 57, autosomal recessive 11.8
30 spastic paraplegia 44, autosomal recessive 11.8
31 spastic paraplegia 64, autosomal recessive 11.8
32 spastic paraplegia 61, autosomal recessive 11.8
33 spastic paraplegia 25, autosomal recessive 11.8
34 spastic paraplegia 18, autosomal recessive 11.8
35 spastic paraplegia 47, autosomal recessive 11.8
36 spastic paraplegia 52, autosomal recessive 11.8
37 spastic paraplegia 62, autosomal recessive 11.8
38 spastic paraplegia 63, autosomal recessive 11.8
39 spastic paraplegia 50, autosomal recessive 11.7
40 spastic paraplegia 51, autosomal recessive 11.7
41 spastic paraplegia 15 11.7
42 spastic paraplegia 32 11.7
43 spastic paraplegia 7, autosomal recessive 11.7
44 spastic paraplegia 27, autosomal recessive 11.7
45 spastic paraplegia 78, autosomal recessive 11.7
46 spastic paraplegia 23, autosomal recessive 11.5
47 spastic paraplegia 51 11.5
48 spastic paraplegia, optic atrophy, and neuropathy 11.4
49 spastic paraplegia 25 11.4
50 spastic paraplegia type 49 11.4

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, Spinal Cord

Publications for Spastic Paraplegia 5a

Articles related to Spastic Paraplegia 5a:

# Title Authors PMID Year
1
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia. 38
26714052 2016
2
CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A. 38
24117163 2014
3
A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia. 38
12874406 2003

Variations for Spastic Paraplegia 5a

ClinVar genetic disease variations for Spastic Paraplegia 5a:

6 (show all 17)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CYP7B1 NM_004820.5(CYP7B1): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs72554620 8:65517310-65517310 8:64604753-64604753
2 CYP7B1 NM_004820.5(CYP7B1): c.1088C> T (p.Ser363Phe) single nucleotide variant Pathogenic rs121908610 8:65517384-65517384 8:64604827-64604827
3 CYP7B1 NM_004820.5(CYP7B1): c.169G> A (p.Gly57Arg) single nucleotide variant Pathogenic rs121908614 8:65537050-65537050 8:64624493-64624493
4 CYP7B1 NM_004820.5(CYP7B1): c.1250G> A (p.Arg417His) single nucleotide variant Pathogenic rs121908611 8:65509470-65509470 8:64596913-64596913
5 CYP7B1 NM_004820.5(CYP7B1): c.647T> C (p.Phe216Ser) single nucleotide variant Pathogenic rs121908612 8:65528451-65528451 8:64615894-64615894
6 CYP7B1 NM_004820.5(CYP7B1): c.825T> A (p.Tyr275Ter) single nucleotide variant Pathogenic rs121908613 8:65528273-65528273 8:64615716-64615716
7 CYP7B1 NM_004820.5(CYP7B1): c.1408T> A (p.Phe470Ile) single nucleotide variant Pathogenic rs267606758 8:65509312-65509312 8:64596755-64596755
8 CYP7B1 NM_004820.5(CYP7B1): c.260G> T (p.Gly87Val) single nucleotide variant Pathogenic rs587777221 8:65528838-65528838 8:64616281-64616281
9 CYP7B1 NM_004820.5(CYP7B1): c.889A> G (p.Thr297Ala) single nucleotide variant Pathogenic rs587777222 8:65527751-65527751 8:64615194-64615194
10 CYP7B1 NM_004820.5(CYP7B1): c.259+2T> C single nucleotide variant Pathogenic rs751713917 8:65536958-65536958 8:64624401-64624401
11 ALDH18A1 NM_002860.4(ALDH18A1): c.2231C> G (p.Ser744Trp) single nucleotide variant Likely pathogenic rs762271422 10:97366676-97366676 10:95606919-95606919
12 C19orf12 NM_001256047.1(C19orf12): c.391A> G (p.Lys131Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146170087 19:30193654-30193654 19:29702747-29702747
13 GBA2 NM_020944.3(GBA2): c.786+9C> A single nucleotide variant Conflicting interpretations of pathogenicity rs374309697 9:35741660-35741660 9:35741663-35741663
14 CYP7B1 NM_004820.5(CYP7B1): c.1456C> T (p.Arg486Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116171274 8:65509264-65509264 8:64596707-64596707
15 GBA2 NM_020944.3(GBA2): c.1495G> A (p.Glu499Lys) single nucleotide variant Uncertain significance rs35818148 9:35739712-35739712 9:35739715-35739715
16 CYP7B1 NM_004820.5(CYP7B1): c.955C> T (p.Arg319Cys) single nucleotide variant Uncertain significance 8:65527685-65527685 8:64615128-64615128
17 CYP2U1 NM_183075.3(CYP2U1): c.370C> T (p.His124Tyr) single nucleotide variant Uncertain significance rs1048541745 4:108853169-108853169 4:107932013-107932013

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

Cellular components related to Spastic Paraplegia 5a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 organelle membrane GO:0031090 8.62 CYP7B1 CYP2U1

Molecular functions related to Spastic Paraplegia 5a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 8.62 CYP7B1 CYP2U1

Sources for Spastic Paraplegia 5a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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