MCID: SPS108
MIFTS: 27

Spastic Paraplegia 5a, Autosomal Recessive

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Metabolic diseases, Gastrointestinal diseases, Bone diseases, Mental diseases

Aliases & Classifications for Spastic Paraplegia 5a, Autosomal Recessive

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

Name: Spastic Paraplegia 5a, Autosomal Recessive 54 71 13 69
Spg5a 12 56 71
Autosomal Recessive Spastic Paraplegia Type 5a 12 56
Hereditary Spastic Paraplegia 5a 12 14
Autosomal Recessive Spastic Paraplegia 5a 12

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive spastic paraplegia type 5a
Inheritance: Autosomal recessive;

OMIM:

54
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: 56  
Rare neurological diseases


External Ids:

OMIM 54 270800
Disease Ontology 12 DOID:0110810
ICD10 33 G11.4
Orphanet 56 ORPHA100986
MESH via Orphanet 43 C536871
UMLS via Orphanet 70 C2931356 C1849115
ICD10 via Orphanet 34 G11.4
MedGen 40 C1849115
MeSH 42 D015419

Summaries for Spastic Paraplegia 5a, Autosomal Recessive

OMIM : 54
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 pediatric ovarian germ cell tumor, and has symptoms including optic atrophy, dysarthria and hyperreflexia. An important gene associated with Spastic Paraplegia 5a, Autosomal Recessive is CYP7B1 (Cytochrome P450 Family 7 Subfamily B Member 1).

UniProtKB/Swiss-Prot : 71 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 78, Autosomal Recessive Spastic Paraplegia 29, Autosomal Dominant
Spastic Paraplegia 63 Spastic Paraplegia 47, Autosomal Recessive
Spastic Paraplegia 23 Spastic Paraplegia 44, Autosomal Recessive
Spastic Paraplegia 74, Autosomal Recessive Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 13, Autosomal Dominant
Spastic Paraplegia 30, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 38, Autosomal Dominant Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 72, Autosomal Recessive
Spastic Paraplegia 77, Autosomal Recessive Spastic Paraplegia 25, Autosomal Recessive
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 53, Autosomal Recessive Spastic Paraplegia 37, Autosomal Dominant
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 18, Autosomal Recessive
Spastic Paraplegia 5a, Autosomal Recessive Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 27, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 33, Autosomal Dominant Spastic Paraplegia 9a, Autosomal Dominant
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 62 Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 10, Autosomal Dominant
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 36, Autosomal Dominant
Spastic Paraplegia 55, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 3a, Autosomal Dominant Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 32, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 15, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 6, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 51, Autosomal Recessive Spastic Paraplegia 61, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 7, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive Spastic Paraplegia 43, Autosomal Recessive
Spastic Paraplegia 75, Autosomal Recessive Spastic Paraplegia 12, Autosomal Dominant
Spastic Paraplegia 73, Autosomal Dominant Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 3a Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 62 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
Spastic Paraplegia 28 Spastic Paraplegia 30
Spastic Paraplegia 33 Spastic Paraplegia 35
Spastic Paraplegia 42 Spastic Paraplegia 43
Spastic Paraplegia 45 Spastic Paraplegia 46
Spastic Paraplegia 47 Spastic Paraplegia 48
Spastic Paraplegia 49 Spastic Paraplegia 50
Spastic Paraplegia 52 Spastic Paraplegia 53
Spastic Paraplegia 54 Spastic Paraplegia 55
Spastic Paraplegia 56 Spastic Paraplegia 57
Spastic Paraplegia 59 Spastic Paraplegia 61
Spastic Paraplegia 64 Spastic Paraplegia 66
Spastic Paraplegia 72 Spastic Paraplegia 75
Spastic Paraplegia 76 Spastic Paraplegia 44
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:

id Related Disease Score Top Affiliating Genes
1 spastic paraplegia 5a 11.2
2 pediatric ovarian germ cell tumor 9.7 CYP7B1 PNPLA6
3 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 8.8 C19orf12 CYP7B1 PNPLA6
4 hirschsprung disease 7 8.6 C19orf12 CYP7B1 PNPLA6

Symptoms & Phenotypes for Spastic Paraplegia 5a, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
dysarthria
hyperreflexia
extensor plantar responses
white matter changes
lower limb spasticity
more
Genitourinary- Bladder:
urinary incontinence

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

Laboratory- Abnormalities:
increased plasma and csf 27-hydroxycholesterol

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)

Skeletal- Feet:
pes cavus (in some patients)


Clinical features from OMIM:

270800

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

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 optic atrophy 32 HP:0000648
2 dysarthria 32 HP:0001260
3 hyperreflexia 32 HP:0001347
4 spastic paraplegia 32 HP:0001258
5 pes cavus 32 occasional (7.5%) HP:0001761
6 lower limb spasticity 32 HP:0002061
7 urinary incontinence 32 HP:0000020
8 spastic gait 32 HP:0002064
9 babinski sign 32 HP:0003487
10 limb dysmetria 32 occasional (7.5%) HP:0002406
11 lower limb muscle weakness 32 HP:0007340
12 paraplegia 32 HP:0010550
13 hyperintensity of cerebral white matter on mri 32 very rare (1%) HP:0030890
14 impaired vibration sensation in the lower limbs 32 HP:0002166
15 impaired distal proprioception 32 HP:0006858

UMLS symptoms related to Spastic Paraplegia 5a, Autosomal Recessive:


lower limb muscle weakness

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

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:

71 (show all 11)
id 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
id 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.1088C> T (p.Ser363Phe) single nucleotide variant Pathogenic rs121908610 GRCh37 Chromosome 8, 65517384: 65517384
3 CYP7B1 NM_004820.4(CYP7B1): c.169G> A (p.Gly57Arg) single nucleotide variant Pathogenic rs121908614 GRCh37 Chromosome 8, 65537050: 65537050
4 CYP7B1 NM_004820.4(CYP7B1): c.1250G> A (p.Arg417His) single nucleotide variant Pathogenic rs121908611 GRCh37 Chromosome 8, 65509470: 65509470
5 CYP7B1 NM_004820.4(CYP7B1): c.647T> C (p.Phe216Ser) single nucleotide variant Pathogenic rs121908612 GRCh37 Chromosome 8, 65528451: 65528451
6 CYP7B1 NM_004820.4(CYP7B1): c.825T> A (p.Tyr275Ter) single nucleotide variant Pathogenic rs121908613 GRCh37 Chromosome 8, 65528273: 65528273
7 CYP7B1 NM_004820.4(CYP7B1): c.1408T> A (p.Phe470Ile) single nucleotide variant Pathogenic rs267606758 GRCh37 Chromosome 8, 65509312: 65509312
8 CYP7B1 NM_004820.4(CYP7B1): c.260G> T (p.Gly87Val) single nucleotide variant Pathogenic rs587777221 GRCh37 Chromosome 8, 65528838: 65528838
9 CYP7B1 NM_004820.4(CYP7B1): c.889A> G (p.Thr297Ala) single nucleotide variant Pathogenic/Likely pathogenic rs587777222 GRCh37 Chromosome 8, 65527751: 65527751
10 CYP7B1 NM_004820.4(CYP7B1): c.259+2T> C single nucleotide variant Pathogenic rs751713917 GRCh37 Chromosome 8, 65536958: 65536958

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:

id 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:

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

Sources for Spastic Paraplegia 5a, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....