MCID: SPS039
MIFTS: 23

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 52 25
Spastic Paraplegia Type 5a 52 25
Spg5a 52 25
Spastic Paraplegia 5a, Autosomal Recessive 71
Autosomal Recessive Spastic Paraplegia 5a 25
Autosomal Recessive Spastic Paraplegia 52
Spastic Paraplegia Type 5a, Recessive 71

Classifications:



External Ids:

UMLS 71 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 54, autosomal recessive and spastic paraplegia 43, autosomal recessive. An important gene associated with Spastic Paraplegia 5a is SPG14 (Spastic Paraplegia 14 (Autosomal Recessive)). Affiliated tissues include brain and spinal cord.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100986 Definition Autosomal 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 Dominant
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
Spastic Paraplegia 81, Autosomal Recessive Spastic Paraplegia 82, Autosomal Recessive
Hereditary Spastic Paraplegia 23 Hereditary Spastic Paraplegia 30
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Hereditary Spastic Paraplegia Spastic Paraplegia 4
Spastic Paraplegia 8 Spastic Paraplegia 11
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 32 Spastic Paraplegia 39
Spastic Paraplegia 47 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 89)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 54, autosomal recessive 33.6 GBA2 CYP2U1
2 spastic paraplegia 43, autosomal recessive 33.6 GBA2 C19orf12
3 spastic paraplegia 39, autosomal recessive 33.6 GBA2 CYP7B1
4 spastic paraplegia 15, autosomal recessive 33.3 GBA2 CYP7B1
5 spastic paraplegia 56, autosomal recessive 33.3 GBA2 CYP2U1-AS1 CYP2U1
6 spastic paraplegia 14, autosomal recessive 33.2 SPG14 ALDH18A1
7 spastic paraplegia 46, autosomal recessive 32.8 GBA2 CYP7B1 CYP2U1
8 spastic paraplegia 27, autosomal recessive 32.3 SPG27 ALDH18A1
9 spastic paraplegia 35, autosomal recessive 31.7 CYP7B1 C19orf12
10 paraplegia 29.7 GBA2 CYP7B1 CYP2U1 C19orf12 ALDH18A1
11 hereditary spastic paraplegia 27.3 SPG27 SPG24 MCOLN1 GBA2 CYP7B1 CYP2U1-AS1
12 spastic paraplegia 5a, autosomal recessive 12.9
13 pure or complex autosomal recessive spastic paraplegia 12.5
14 spastic paraplegia 28, autosomal recessive 12.4
15 autosomal recessive spastic paraplegia type 60 12.4
16 autosomal recessive spastic paraplegia type 59 12.4
17 autosomal recessive spastic paraplegia type 69 12.4
18 autosomal recessive spastic paraplegia type 70 12.4
19 autosomal recessive spastic paraplegia type 71 12.4
20 autosomal recessive spastic paraplegia type 66 12.4
21 autosomal recessive spastic paraplegia type 67 12.4
22 spastic paraplegia 49, autosomal recessive 12.3
23 spastic paraplegia 45, autosomal recessive 12.2
24 spastic paraplegia 15 12.1
25 spastic paraplegia 32 12.1
26 spastic paraplegia 23, autosomal recessive 12.1
27 spastic paraplegia 32, autosomal recessive 12.1
28 spastic paraplegia 11 11.9
29 spastic paraplegia 25 11.9
30 spastic paraplegia 20, autosomal recessive 11.9
31 spastic paraplegia 53, autosomal recessive 11.8
32 spastic paraplegia 55, autosomal recessive 11.8
33 spastic paraplegia 57, autosomal recessive 11.8
34 spastic paraplegia 44, autosomal recessive 11.8
35 spastic paraplegia 51, autosomal recessive 11.8
36 spastic paraplegia 64, autosomal recessive 11.8
37 spastic paraplegia 61, autosomal recessive 11.8
38 spastic paraplegia 25, autosomal recessive 11.8
39 spastic paraplegia 18, autosomal recessive 11.8
40 spastic paraplegia 47, autosomal recessive 11.8
41 spastic paraplegia 52, autosomal recessive 11.8
42 spastic paraplegia 62, autosomal recessive 11.8
43 spastic paraplegia 63, autosomal recessive 11.8
44 spastic paraplegia 24, autosomal recessive 11.7
45 spastic paraplegia 50, autosomal recessive 11.7
46 hereditary spastic paraplegia 30 11.7
47 spastic paraplegia 7, autosomal recessive 11.7
48 spastic paraplegia 78, autosomal recessive 11.7
49 spastic paraplegia 14 11.6
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

Anatomical Context for Spastic Paraplegia 5a

MalaCards organs/tissues related to Spastic Paraplegia 5a:

40
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. 61
26714052 2016
2
CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A. 61
24117163 2014
3
A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia. 61
12874406 2003

Variations for Spastic Paraplegia 5a

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

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

# Name GO ID Score Top Affiliating Genes
1 monooxygenase activity GO:0004497 9.16 CYP7B1 CYP2U1
2 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 8.96 CYP7B1 CYP2U1
3 steroid hydroxylase activity GO:0008395 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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