SPG5A
MCID: SPS108
MIFTS: 42

Spastic Paraplegia 5a, Autosomal Recessive (SPG5A)

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, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 5a, Autosomal Recessive:

Name: Spastic Paraplegia 5a, Autosomal Recessive 57 72 13 70
Hereditary Spastic Paraplegia 5a 12 29 6 15
Spg5a 57 12 58 72
Autosomal Recessive Spastic Paraplegia Type 5a 12 58
Paraplegia, Spastic, Autosomal Recessive, Type 5a 39
Autosomal Recessive Spastic Paraplegia 5a 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 5a
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
age of onset ranges from 1 to 47 years
about half of patients become wheelchair bound after long duration
clinical variability, both pure and complicated forms


HPO:

31
spastic paraplegia 5a, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110810
OMIM® 57 270800
OMIM Phenotypic Series 57 PS303350
MeSH 44 D015419
ICD10 32 G11.4
MESH via Orphanet 45 C536871
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 71 C1849115 C2931356
Orphanet 58 ORPHA100986
MedGen 41 C1849115
UMLS 70 C1849115

Summaries for Spastic Paraplegia 5a, Autosomal Recessive

OMIM® : 57 Spastic paraplegia-5A (SPG5A) is an autosomal recessive neurologic disorder with a wide phenotypic spectrum. Some patients have pure spastic paraplegia affecting only gait, whereas others may have a complicated phenotype with additional manifestations, including optic atrophy or cerebellar ataxia (summary by Arnoldi et al., 2012). The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). Inheritance is most often autosomal dominant (see 182600), but X-linked (see 303350) and autosomal recessive forms also occur. (270800) (Updated 05-Apr-2021)

MalaCards based summary : Spastic Paraplegia 5a, Autosomal Recessive, also known as hereditary spastic paraplegia 5a, is related to spastic paraplegia 5a and spastic paraplegia 35, autosomal recessive. An important gene associated with Spastic Paraplegia 5a, Autosomal Recessive is CYP7B1 (Cytochrome P450 Family 7 Subfamily B Member 1). Affiliated tissues include cerebellum, spinal cord and liver, and related phenotypes are spastic paraplegia and impaired vibratory sensation

Disease Ontology : 12 A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has material basis in mutation in the CYP7B1 gene on chromosome 8q12.

UniProtKB/Swiss-Prot : 72 Spastic paraplegia 5A, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.

Related Diseases for Spastic Paraplegia 5a, Autosomal Recessive

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, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 5a 32.5 CYP7B1 ALDH18A1
2 spastic paraplegia 35, autosomal recessive 30.7 ZFYVE26 SPG7 SPG11 CYP7B1
3 spastic paraplegia 26, autosomal recessive 30.6 SPG11 SPAST REEP2
4 spastic paraplegia 11, autosomal recessive 30.5 ZFYVE26 SPG7 SPG11 SPAST
5 spastic paraplegia 48, autosomal recessive 30.5 ZFYVE26 SPG7 SPG11 SPAST
6 spastic paraplegia 64, autosomal recessive 29.9 ZFYVE26 SPG11
7 spasticity 29.4 SPG7 SPAST
8 spastic paraplegia 15, autosomal recessive 27.8 ZFYVE26 SPG7 SPG11 SPAST REEP2 KIF5A
9 paraplegia 27.7 ZFYVE26 SPG7 SPG11 SPAST REEP2 KIF5A
10 hereditary spastic paraplegia 27.7 ZFYVE26 SPG7 SPG11 SPAST REEP2 KIF5A
11 spastic paraplegia 82, autosomal recessive 10.9
12 mast syndrome 10.9
13 spastic paraplegia 30, autosomal dominant 10.9
14 spastic paraplegia 79, autosomal recessive 10.9
15 spastic paraplegia 72, autosomal recessive 10.9
16 spastic paraplegia 74, autosomal recessive 10.9
17 spastic paraplegia 9b, autosomal recessive 10.9
18 spastic paraplegia 75, autosomal recessive 10.9
19 spastic paraplegia 76, autosomal recessive 10.9
20 spastic paraplegia 77, autosomal recessive 10.9
21 spastic paraplegia 81, autosomal recessive 10.9
22 spastic paraplegia 83, autosomal recessive 10.9
23 spastic paraplegia 29, autosomal dominant 10.1 ZFYVE26 ALDH18A1
24 spastic paraplegia 19, autosomal dominant 10.1 ZFYVE26 ALDH18A1
25 spastic paraplegia 44, autosomal recessive 10.1 SPG11 CYP7B1
26 spastic paraplegia 52, autosomal recessive 10.0 ZFYVE26 SPG11
27 spastic paraplegia 32, autosomal recessive 10.0 SPG7 SPG11
28 spastic paraplegia 57, autosomal recessive 10.0 SPG11 KIF5A
29 amyotrophic lateral sclerosis type 5 10.0 ZFYVE26 SPG11
30 spastic paraplegia 28, autosomal recessive 10.0 SPG7 SPG11
31 spastic paraplegia 54, autosomal recessive 9.9 SPG7 SPG11
32 spastic paraplegia 7, autosomal recessive 9.9 SPG7 SPG11
33 spinocerebellar ataxia, autosomal recessive 24 9.9 SPG7 CYP7B1
34 pure hereditary spastic paraplegia 9.9 SPAST KIF5A
35 hereditary spastic paraplegia 23 9.9 ZFYVE26 SPG11 CYP7B1
36 spastic paraplegia 41, autosomal dominant 9.9 SPAST KIF5A
37 spastic paraplegia 15 9.9
38 x-linked complicated spastic paraplegia type 1 9.9
39 spinocerebellar ataxia, autosomal recessive 20 9.9 ZFYVE26 SPG11
40 neuropathy, hereditary sensory, type id 9.9 SPAST KIF5A
41 complex hereditary spastic paraplegia 9.9 SPG7 SPG11 CYP7B1
42 spastic paraplegia 63, autosomal recessive 9.8 SPG7 SPG11 CYP7B1
43 spastic paraplegia 43, autosomal recessive 9.8 SPG11 SPAST
44 hereditary spastic paraplegia 51 9.8 ZFYVE26 SPG7 SPG11
45 spastic paraplegia 50, autosomal recessive 9.8 ZFYVE26 SPG7 SPG11
46 spastic paraplegia 49, autosomal recessive 9.8 ZFYVE26 SPG7 SPG11
47 spastic paraplegia 55, autosomal recessive 9.8 ZFYVE26 SPG7 SPG11
48 axonal neuropathy 9.8 ZFYVE26 SPG11 KIF5A
49 spastic paraplegia 20, autosomal recessive 9.7 ZFYVE26 SPG7 SPAST
50 spastic paraplegia 3, autosomal dominant 9.7 SPG7 SPG11 SPAST

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



Diseases related to Spastic Paraplegia 5a, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 5a, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 5a, Autosomal Recessive:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001258
2 impaired vibratory sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002495
3 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
4 lower limb muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0007340
5 abnormality of the urinary system 58 31 frequent (33%) Frequent (79-30%) HP:0000079
6 pes cavus 58 31 occasional (7.5%) Frequent (79-30%) HP:0001761
7 abnormal cerebellum morphology 58 31 very rare (1%) Frequent (79-30%) HP:0001317
8 abnormality of the cerebral white matter 58 31 frequent (33%) Frequent (79-30%) HP:0002500
9 ankle clonus 58 31 frequent (33%) Frequent (79-30%) HP:0011448
10 lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007210
11 nystagmus 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000639
12 cataract 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000518
13 sensorineural hearing impairment 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000407
14 limb ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002070
15 truncal ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002078
16 atrophy of the spinal cord 58 31 occasional (7.5%) Occasional (29-5%) HP:0006827
17 cognitive impairment 31 occasional (7.5%) HP:0100543
18 limb dysmetria 31 occasional (7.5%) HP:0002406
19 scoliosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002650
20 dysarthria 58 31 very rare (1%) Very rare (<4-1%) HP:0001260
21 dysphagia 58 31 very rare (1%) Very rare (<4-1%) HP:0002015
22 polyneuropathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001271
23 upper limb muscle weakness 58 31 very rare (1%) Very rare (<4-1%) HP:0003484
24 upper limb amyotrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0009129
25 upper limb spasticity 58 31 very rare (1%) Very rare (<4-1%) HP:0006986
26 hyperintensity of cerebral white matter on mri 31 very rare (1%) HP:0030890
27 lower limb spasticity 58 31 Very frequent (99-80%) HP:0002061
28 hyperreflexia 31 HP:0001347
29 optic atrophy 31 HP:0000648
30 impaired distal proprioception 31 HP:0006858
31 urinary incontinence 31 HP:0000020
32 spastic gait 31 HP:0002064
33 paraplegia 31 HP:0010550
34 impaired vibration sensation in the lower limbs 31 HP:0002166

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
lower limb spasticity
spastic gait
extensor plantar responses
more
Head And Neck Eyes:
optic atrophy (in some patients)
nystagmus (in some patients)
cataract (in some patients)
saccadic pursuit (in some patients)

Head And Neck Ears:
sensorineural hearing loss (in some patients)

Laboratory Abnormalities:
increased plasma and csf 27-hydroxycholesterol

Genitourinary Bladder:
urinary incontinence

Neurologic Peripheral Nervous System:
decreased vibratory sense in the lower limbs
decreased proprioception in the lower limbs

Skeletal Feet:
pes cavus (in some patients)

Clinical features from OMIM®:

270800 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spastic Paraplegia 5a, Autosomal Recessive

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

Genetic Tests for Spastic Paraplegia 5a, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 5a, Autosomal Recessive:

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

Anatomical Context for Spastic Paraplegia 5a, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 5a, Autosomal Recessive:

40
Cerebellum, Spinal Cord, Liver

Publications for Spastic Paraplegia 5a, Autosomal Recessive

Articles related to Spastic Paraplegia 5a, Autosomal Recessive:

(show all 27)
# Title Authors PMID Year
1
A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia. 61 57 6
12874406 2003
2
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. 6 57
21214876 2012
3
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. 57 6
19439420 2009
4
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1. 57 6
19187859 2009
5
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. 6 57
18252231 2008
6
Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. 57 6
7987300 1994
7
CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A. 61 6
24117163 2014
8
Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 6
27217339 2016
9
Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid. 6
24658845 2014
10
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. 6
23812641 2013
11
Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations. 6
21541746 2012
12
CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects. 6
22384504 2012
13
Successful heterozygous living donor liver transplantation for an oxysterol 7α-hydroxylase deficiency in a Japanese patient. 6
21567895 2011
14
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. 6
21623769 2011
15
Novel mutations in the CYP7B1 gene cause hereditary spastic paraplegia. 6
21452256 2011
16
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia. 6
18855023 2009
17
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. 57
14658060 2004
18
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
19
Advances in hereditary spastic paraplegia. 57
9266155 1997
20
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. 57
8649538 1996
21
Autosomal recessive spastic paraplegia: evidence for demyelination. 57
436332 1979
22
Strumpell's pure familial spastic paraplegia: case study and review of the literature. 57
591968 1977
23
Hereditary spastic paraplegia in Western Norway. 57
4426134 1974
24
Mental retardation and spastic paraparesis in four of eight siblings. 57
4106928 1971
25
Hereditary spastic paraplegia. A family with ten injured. 57
13791321 1959
26
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
27
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia. 61
26714052 2016

Variations for Spastic Paraplegia 5a, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 5a, Autosomal Recessive:

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

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 5a, Autosomal Recessive:

72 (show all 11)
# Symbol AA change Variation ID SNP ID
1 CYP7B1 p.Gly57Arg VAR_044382 rs121908614
2 CYP7B1 p.Phe216Ser VAR_044383 rs121908612
3 CYP7B1 p.Ser363Phe VAR_044384 rs121908610
4 CYP7B1 p.Arg417His VAR_044385 rs121908611
5 CYP7B1 p.Gly87Val VAR_075506 rs587777221
6 CYP7B1 p.His285Leu VAR_075510 rs750781606
7 CYP7B1 p.Thr297Ala VAR_075512 rs587777222
8 CYP7B1 p.Arg417Cys VAR_075515 rs367916692
9 CYP7B1 p.Gly443Ala VAR_075516 rs119056244
10 CYP7B1 p.Phe470Ile VAR_075517 rs267606758
11 CYP7B1 p.Arg486Cys VAR_075518 rs116171274

Expression for Spastic Paraplegia 5a, Autosomal Recessive

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

Pathways for Spastic Paraplegia 5a, Autosomal Recessive

GO Terms for Spastic Paraplegia 5a, Autosomal Recessive

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum tubular network GO:0071782 8.96 SPAST REEP2
2 axon cytoplasm GO:1904115 8.8 SPG7 SPAST KIF5A

Biological processes related to Spastic Paraplegia 5a, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitotic cytokinesis GO:0000281 9.16 ZFYVE26 SPAST
2 anterograde axonal transport GO:0008089 8.96 SPG7 SPAST
3 synaptic vesicle transport GO:0048489 8.62 SPG11 KIF5A

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

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.13 SPAST REEP2 KIF5A
2 ATPase activity GO:0016887 8.8 SPG7 SPAST KIF5A

Sources for Spastic Paraplegia 5a, Autosomal Recessive

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
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35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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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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