MCID: SPS039
MIFTS: 30

Spastic Paraplegia 5a

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle 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 20 43 6
Spastic Paraplegia Type 5a 20 43
Spg5a 20 43
Spastic Paraplegia 5a, Autosomal Recessive 70
Autosomal Recessive Spastic Paraplegia 5a 43
Autosomal Recessive Spastic Paraplegia 20
Spastic Paraplegia Type 5a, Recessive 70

Classifications:



External Ids:

UMLS 70 C1849115 C2931356

Summaries for Spastic Paraplegia 5a

MedlinePlus Genetics : 43 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 39, autosomal recessive. An important gene associated with Spastic Paraplegia 5a is CYP7B1 (Cytochrome P450 Family 7 Subfamily B Member 1). Affiliated tissues include spinal cord.

GARD : 20 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.

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
Spastic Paraplegia 83, 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 97)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 5a, autosomal recessive 33.2 CYP7B1 ALDH18A1
2 spastic paraplegia 39, autosomal recessive 32.7 GBA2 CYP7B1
3 spastic paraplegia 54, autosomal recessive 32.7 GBA2 CYP2U1
4 spastic paraplegia 43, autosomal recessive 32.7 GBA2 C19orf12
5 spastic paraplegia 46, autosomal recessive 32.6 GBA2 CYP7B1 CYP2U1
6 spastic paraplegia 56, autosomal recessive 32.5 GBA2 CYP2U1-AS1 CYP2U1
7 spastic paraplegia 14, autosomal recessive 32.4 SPG14 ALDH18A1
8 spastic paraplegia 27, autosomal recessive 32.1 SPG27 ALDH18A1
9 spastic paraplegia 35, autosomal recessive 31.4 CYP7B1 C19orf12
10 spastic paraparesis 30.2 GBA2 ALDH18A1
11 spastic paraplegia 15, autosomal recessive 30.0 GBA2 CYP7B1
12 paraplegia 29.6 GBA2 CYP7B1 CYP2U1 C19orf12 ALDH18A1
13 hereditary spastic paraplegia 27.9 SPG27 SPG24 MCOLN1 GBA2 CYP7B1 CYP2U1-AS1
14 spastic paraplegia 49, autosomal recessive 11.8
15 spastic paraplegia 28, autosomal recessive 11.7
16 spastic paraplegia 45, autosomal recessive 11.6
17 spastic paraplegia 20, autosomal recessive 11.6
18 spastic paraplegia 23, autosomal recessive 11.6
19 spastic paraplegia 25, autosomal recessive 11.6
20 spastic paraplegia 57, autosomal recessive 11.6
21 spastic paraplegia 32 11.5
22 spastic paraplegia 32, autosomal recessive 11.5
23 spastic paraplegia 11 11.5
24 spastic paraplegia 78, autosomal recessive 11.5
25 spastic paraplegia 25 11.5
26 spastic paraplegia 24, autosomal recessive 11.5
27 spastic paraplegia 18, autosomal recessive 11.5
28 spastic paraplegia 53, autosomal recessive 11.5
29 spastic paraplegia 55, autosomal recessive 11.5
30 spastic paraplegia 62, autosomal recessive 11.5
31 spastic paraplegia 61, autosomal recessive 11.5
32 pure or complex autosomal recessive spastic paraplegia 11.5
33 spastic paraplegia 44, autosomal recessive 11.4
34 spastic paraplegia 63, autosomal recessive 11.4
35 hereditary spastic paraplegia 30 11.3
36 spastic paraplegia 7, autosomal recessive 11.3
37 spastic paraplegia 50, autosomal recessive 11.3
38 spastic paraplegia 51, autosomal recessive 11.3
39 spastic paraplegia 47, autosomal recessive 11.3
40 spastic paraplegia 52, autosomal recessive 11.3
41 spastic paraplegia type 49 11.3
42 autosomal recessive spastic paraplegia type 60 11.3
43 autosomal recessive spastic paraplegia type 59 11.3
44 autosomal recessive spastic paraplegia type 69 11.3
45 autosomal recessive spastic paraplegia type 70 11.3
46 autosomal recessive spastic paraplegia type 71 11.3
47 autosomal recessive spastic paraplegia type 66 11.3
48 autosomal recessive spastic paraplegia type 67 11.3
49 spastic paraplegia 14 11.2
50 kufor-rakeb syndrome 11.1

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
Spinal Cord

Publications for Spastic Paraplegia 5a

Articles related to Spastic Paraplegia 5a:

(show all 19)
# Title Authors PMID Year
1
CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A. 61 6
24117163 2014
2
A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia. 6 61
12874406 2003
3
Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 6
27217339 2016
4
Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid. 6
24658845 2014
5
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. 6
23812641 2013
6
Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations. 6
21541746 2012
7
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. 6
21214876 2012
8
CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects. 6
22384504 2012
9
Successful heterozygous living donor liver transplantation for an oxysterol 7α-hydroxylase deficiency in a Japanese patient. 6
21567895 2011
10
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. 6
21623769 2011
11
Novel mutations in the CYP7B1 gene cause hereditary spastic paraplegia. 6
21452256 2011
12
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. 6
19439420 2009
13
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia. 6
18855023 2009
14
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1. 6
19187859 2009
15
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. 6
18252231 2008
16
Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease. 6
9802883 1998
17
Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. 6
7987300 1994
18
Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families. 61
33771085 2021
19
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia. 61
26714052 2016

Variations for Spastic Paraplegia 5a

ClinVar genetic disease variations for Spastic Paraplegia 5a:

6 (show top 50) (show all 55)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP7B1 NM_004820.5(CYP7B1):c.1162C>T (p.Arg388Ter) SNV Pathogenic 6100 rs72554620 GRCh37: 8:65517310-65517310
GRCh38: 8:64604753-64604753
2 CYP7B1 NM_004820.5(CYP7B1):c.1088C>T (p.Ser363Phe) SNV Pathogenic 6101 rs121908610 GRCh37: 8:65517384-65517384
GRCh38: 8:64604827-64604827
3 CYP7B1 NM_004820.5(CYP7B1):c.169G>A (p.Gly57Arg) SNV Pathogenic 6102 rs121908614 GRCh37: 8:65537050-65537050
GRCh38: 8:64624493-64624493
4 CYP7B1 NM_004820.5(CYP7B1):c.647T>C (p.Phe216Ser) SNV Pathogenic 6104 rs121908612 GRCh37: 8:65528451-65528451
GRCh38: 8:64615894-64615894
5 CYP7B1 NM_004820.5(CYP7B1):c.1408T>A (p.Phe470Ile) SNV Pathogenic 6106 rs267606758 GRCh37: 8:65509312-65509312
GRCh38: 8:64596755-64596755
6 CYP7B1 NM_004820.5(CYP7B1):c.260G>T (p.Gly87Val) SNV Pathogenic 120178 rs587777221 GRCh37: 8:65528838-65528838
GRCh38: 8:64616281-64616281
7 CYP7B1 NM_004820.5(CYP7B1):c.259+2T>C SNV Pathogenic 225337 rs751713917 GRCh37: 8:65536958-65536958
GRCh38: 8:64624401-64624401
8 CYP7B1 NM_004820.5(CYP7B1):c.1091C>T (p.Ser364Leu) SNV Pathogenic 807591 rs770065565 GRCh37: 8:65517381-65517381
GRCh38: 8:64604824-64604824
9 CYP7B1 NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter) SNV Pathogenic 6105 rs121908613 GRCh37: 8:65528273-65528273
GRCh38: 8:64615716-64615716
10 CYP7B1 NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) SNV Pathogenic 6107 rs116171274 GRCh37: 8:65509264-65509264
GRCh38: 8:64596707-64596707
11 CYP7B1 NM_004820.5(CYP7B1):c.889A>G (p.Thr297Ala) SNV Pathogenic 120179 rs587777222 GRCh37: 8:65527751-65527751
GRCh38: 8:64615194-64615194
12 ALDH18A1 NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp) SNV Likely pathogenic 522897 rs762271422 GRCh37: 10:97366676-97366676
GRCh38: 10:95606919-95606919
13 CYP7B1 NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His) SNV Likely pathogenic 6103 rs121908611 GRCh37: 8:65509470-65509470
GRCh38: 8:64596913-64596913
14 CYP7B1 NM_004820.5(CYP7B1):c.349A>G (p.Lys117Glu) SNV Uncertain significance 363586 rs368626966 GRCh37: 8:65528749-65528749
GRCh38: 8:64616192-64616192
15 CYP7B1 NM_004820.5(CYP7B1):c.*111G>A SNV Uncertain significance 363577 rs140646421 GRCh37: 8:65509088-65509088
GRCh38: 8:64596531-64596531
16 GBA2 NM_020944.3(GBA2):c.786+9C>A SNV Uncertain significance 437458 rs374309697 GRCh37: 9:35741660-35741660
GRCh38: 9:35741663-35741663
17 CYP7B1 NM_004820.5(CYP7B1):c.*11A>G SNV Uncertain significance 908302 GRCh37: 8:65509188-65509188
GRCh38: 8:64596631-64596631
18 CYP7B1 NM_004820.5(CYP7B1):c.-135G>A SNV Uncertain significance 908369 GRCh37: 8:65711279-65711279
GRCh38: 8:64798722-64798722
19 CYP7B1 NM_004820.5(CYP7B1):c.-144C>G SNV Uncertain significance 908370 GRCh37: 8:65711288-65711288
GRCh38: 8:64798731-64798731
20 CYP7B1 NM_004820.5(CYP7B1):c.1044C>T (p.Ser348=) SNV Uncertain significance 910254 GRCh37: 8:65527596-65527596
GRCh38: 8:64615039-64615039
21 CYP7B1 NM_004820.5(CYP7B1):c.830A>C (p.His277Pro) SNV Uncertain significance 910255 GRCh37: 8:65528268-65528268
GRCh38: 8:64615711-64615711
22 CYP7B1 NM_004820.5(CYP7B1):c.757A>G (p.Lys253Glu) SNV Uncertain significance 910256 GRCh37: 8:65528341-65528341
GRCh38: 8:64615784-64615784
23 CYP7B1 NM_004820.5(CYP7B1):c.283G>T (p.Asp95Tyr) SNV Uncertain significance 911143 GRCh37: 8:65528815-65528815
GRCh38: 8:64616258-64616258
24 CYP7B1 NM_004820.5(CYP7B1):c.177C>A (p.Val59=) SNV Uncertain significance 911144 GRCh37: 8:65537042-65537042
GRCh38: 8:64624485-64624485
25 CYP7B1 NM_004820.5(CYP7B1):c.90C>T (p.Leu30=) SNV Uncertain significance 502522 rs571177831 GRCh37: 8:65711055-65711055
GRCh38: 8:64798498-64798498
26 CYP2U1-AS1 , CYP2U1 NM_183075.3(CYP2U1):c.370C>T (p.His124Tyr) SNV Uncertain significance 522918 rs1048541745 GRCh37: 4:108853169-108853169
GRCh38: 4:107932013-107932013
27 CYP7B1 NM_004820.5(CYP7B1):c.955C>T (p.Arg319Cys) SNV Uncertain significance 587569 rs1410531135 GRCh37: 8:65527685-65527685
GRCh38: 8:64615128-64615128
28 CYP7B1 NM_004820.5(CYP7B1):c.*575T>G SNV Uncertain significance 908300 GRCh37: 8:65508624-65508624
GRCh38: 8:64596067-64596067
29 CYP7B1 NM_004820.5(CYP7B1):c.209T>A (p.Met70Lys) SNV Uncertain significance 363588 rs886063075 GRCh37: 8:65537010-65537010
GRCh38: 8:64624453-64624453
30 CYP7B1 NM_004820.5(CYP7B1):c.261A>G (p.Gly87=) SNV Uncertain significance 363587 rs886063074 GRCh37: 8:65528837-65528837
GRCh38: 8:64616280-64616280
31 CYP7B1 NM_004820.5(CYP7B1):c.204G>A (p.Arg68=) SNV Uncertain significance 220699 rs377119798 GRCh37: 8:65537015-65537015
GRCh38: 8:64624458-64624458
32 CYP7B1 NM_004820.5(CYP7B1):c.92T>A (p.Leu31Gln) SNV Uncertain significance 363590 rs886063076 GRCh37: 8:65711053-65711053
GRCh38: 8:64798496-64798496
33 CYP7B1 NM_004820.5(CYP7B1):c.522T>C (p.Ser174=) SNV Uncertain significance 363585 rs371522442 GRCh37: 8:65528576-65528576
GRCh38: 8:64616019-64616019
34 CYP7B1 NM_004820.5(CYP7B1):c.-144C>T SNV Uncertain significance 363595 rs191075257 GRCh37: 8:65711288-65711288
GRCh38: 8:64798731-64798731
35 CYP7B1 NM_004820.5(CYP7B1):c.-11G>A SNV Uncertain significance 363591 rs886063077 GRCh37: 8:65711155-65711155
GRCh38: 8:64798598-64798598
36 CYP7B1 NM_004820.5(CYP7B1):c.-99G>C SNV Uncertain significance 363594 rs886063078 GRCh37: 8:65711243-65711243
GRCh38: 8:64798686-64798686
37 CYP7B1 NM_004820.5(CYP7B1):c.1018C>T (p.His340Tyr) SNV Uncertain significance 363581 rs757698965 GRCh37: 8:65527622-65527622
GRCh38: 8:64615065-64615065
38 CYP7B1 NM_004820.5(CYP7B1):c.1233G>A (p.Glu411=) SNV Uncertain significance 363580 rs369566738 GRCh37: 8:65517239-65517239
GRCh38: 8:64604682-64604682
39 CYP7B1 NM_004820.5(CYP7B1):c.*402A>T SNV Uncertain significance 363575 rs189470710 GRCh37: 8:65508797-65508797
GRCh38: 8:64596240-64596240
40 CYP7B1 NM_004820.5(CYP7B1):c.-73A>C SNV Uncertain significance 363592 rs72554625 GRCh37: 8:65711217-65711217
GRCh38: 8:64798660-64798660
41 MCOLN1 NM_020533.3(MCOLN1):c.877G>A (p.Gly293Arg) SNV Uncertain significance 800517 rs1599254675 GRCh37: 19:7593143-7593143
GRCh38: 19:7528257-7528257
42 CYP7B1 NM_004820.5(CYP7B1):c.1322C>T (p.Pro441Leu) SNV Uncertain significance 800518 rs1376071051 GRCh37: 8:65509398-65509398
GRCh38: 8:64596841-64596841
43 CYP7B1 NM_004820.5(CYP7B1):c.929G>A (p.Arg310Gln) SNV Uncertain significance 363584 rs201867790 GRCh37: 8:65527711-65527711
GRCh38: 8:64615154-64615154
44 C19orf12 NM_001031726.3(C19orf12):c.424A>G (p.Lys142Glu) SNV Uncertain significance 31158 rs146170087 GRCh37: 19:30193654-30193654
GRCh38: 19:29702747-29702747
45 CYP7B1 NM_004820.5(CYP7B1):c.94G>T (p.Ala32Ser) SNV Uncertain significance 500781 rs181854355 GRCh37: 8:65711051-65711051
GRCh38: 8:64798494-64798494
46 CYP7B1 NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu) SNV Uncertain significance 219384 rs537303950 GRCh37: 8:65711086-65711086
GRCh38: 8:64798529-64798529
47 CYP7B1 NM_004820.5(CYP7B1):c.125G>A (p.Arg42Lys) SNV Uncertain significance 288985 rs375384257 GRCh37: 8:65537094-65537094
GRCh38: 8:64624537-64624537
48 GBA2 NM_020944.3(GBA2):c.1495G>A (p.Glu499Lys) SNV Uncertain significance 437457 rs35818148 GRCh37: 9:35739712-35739712
GRCh38: 9:35739715-35739715
49 CYP7B1 NM_004820.5(CYP7B1):c.75C>A (p.Ala25=) SNV Likely benign 911348 GRCh37: 8:65711070-65711070
GRCh38: 8:64798513-64798513
50 CYP7B1 NM_004820.5(CYP7B1):c.*337T>G SNV Likely benign 363576 rs118000312 GRCh37: 8:65508862-65508862
GRCh38: 8:64596305-64596305

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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