MCID: SPS108
MIFTS: 33

Spastic Paraplegia 5a, Autosomal Recessive

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic 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 75 13 73
Spg5a 57 12 59 75
Autosomal Recessive Spastic Paraplegia Type 5a 12 59
Hereditary Spastic Paraplegia 5a 12 15
Paraplegia, Spastic, Autosomal Recessive, Type 5a 40
Autosomal Recessive Spastic Paraplegia 5a 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 5a
Inheritance: Autosomal recessive;

OMIM:

57
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:

32
spastic paraplegia 5a, autosomal recessive:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 5a, Autosomal Recessive

OMIM : 57 Spastic paraplegia-5A 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)

MalaCards based summary : Spastic Paraplegia 5a, Autosomal Recessive, also known as spg5a, is related to spastic paraplegia 5a and spastic paraplegia 73, autosomal dominant. An important gene associated with Spastic Paraplegia 5a, Autosomal Recessive is CYP7B1 (Cytochrome P450 Family 7 Subfamily B Member 1). Affiliated tissues include spinal cord and cerebellum, and related phenotypes are spastic paraplegia and lower limb spasticity

UniProtKB/Swiss-Prot : 75 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.

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.

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

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 5a 11.4
2 spastic paraplegia 73, autosomal dominant 9.6 CYP7B1 PNPLA6
3 spastic paraplegia 76, autosomal recessive 9.5 CYP7B1 PNPLA6
4 paraplegia 9.2 CYP7B1 PNPLA6
5 spastic paraplegia 43, autosomal recessive 8.7 C19orf12 CYP7B1 PNPLA6
6 hereditary spastic paraplegia 8.7 C19orf12 CYP7B1 PNPLA6

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
hyperreflexia
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

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

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001258
2 lower limb spasticity 59 32 Very frequent (99-80%) HP:0002061
3 impaired vibratory sensation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002495
4 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
5 lower limb muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0007340
6 abnormality of the urinary system 59 32 frequent (33%) Frequent (79-30%) HP:0000079
7 pes cavus 59 32 occasional (7.5%) Frequent (79-30%) HP:0001761
8 abnormality of the cerebral white matter 59 32 frequent (33%) Frequent (79-30%) HP:0002500
9 lower limb amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0007210
10 ankle clonus 59 32 frequent (33%) Frequent (79-30%) HP:0011448
11 limb ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002070
12 truncal ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002078
13 atrophy of the spinal cord 59 32 occasional (7.5%) Occasional (29-5%) HP:0006827
14 sensorineural hearing impairment 59 32 occasional (7.5%) Very rare (<4-1%) HP:0000407
15 cataract 59 32 occasional (7.5%) Very rare (<4-1%) HP:0000518
16 nystagmus 59 32 occasional (7.5%) Very rare (<4-1%) HP:0000639
17 dysarthria 59 32 very rare (1%) Very rare (<4-1%) HP:0001260
18 polyneuropathy 59 32 very rare (1%) Very rare (<4-1%) HP:0001271
19 dysphagia 59 32 very rare (1%) Very rare (<4-1%) HP:0002015
20 scoliosis 59 32 very rare (1%) Very rare (<4-1%) HP:0002650
21 upper limb muscle weakness 59 32 very rare (1%) Very rare (<4-1%) HP:0003484
22 upper limb spasticity 59 32 very rare (1%) Very rare (<4-1%) HP:0006986
23 upper limb amyotrophy 59 32 very rare (1%) Very rare (<4-1%) HP:0009129
24 abnormality of the cerebellum 59 Frequent (79-30%)
25 urinary incontinence 32 HP:0000020
26 optic atrophy 32 HP:0000648
27 hyperreflexia 32 HP:0001347
28 spastic gait 32 HP:0002064
29 impaired vibration sensation in the lower limbs 32 HP:0002166
30 limb dysmetria 32 occasional (7.5%) HP:0002406
31 impaired distal proprioception 32 HP:0006858
32 paraplegia 32 HP:0010550
33 hyperintensity of cerebral white matter on mri 32 very rare (1%) HP:0030890
34 cognitive impairment 32 occasional (7.5%) HP:0100543

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

Anatomical Context for Spastic Paraplegia 5a, Autosomal Recessive

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

41
Spinal Cord, Cerebellum

Publications for Spastic Paraplegia 5a, Autosomal Recessive

Variations for Spastic Paraplegia 5a, Autosomal Recessive

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

75 (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
10 CYP7B1 p.Phe470Ile VAR_075517 rs267606758
11 CYP7B1 p.Arg486Cys VAR_075518 rs116171274

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

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, 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 GO:0005783 8.8 C19orf12 CYP7B1 PNPLA6

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 8.62 CYP7B1 PNPLA6

Sources for Spastic Paraplegia 5a, Autosomal Recessive

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