SPG17
MCID: SPS219
MIFTS: 44

Spastic Paraplegia 17, Autosomal Dominant (SPG17)

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 17, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 17, Autosomal Dominant:

Name: Spastic Paraplegia 17, Autosomal Dominant 57 72
Silver Spastic Paraplegia Syndrome 57 12 43 72 13 6
Silver Syndrome 57 12 43 58 72
Spg17 57 12 43 58 72
Spastic Paraplegia with Amyotrophy of Hands and Feet 57 12 43 72
Spastic Paraplegia-Amyotrophy of Hands and Feet 12 58
Autosomal Dominant Spastic Paraplegia Type 17 12 58
Hereditary Spastic Paraplegia 17 12 15
Spastic Paraplegia 17 43 70
Paraplegia, Spastic, Autosomal Dominant, Type 17 39
Neuronopathy, Distal Hereditary Motor, Type Vb 70
Distal Hereditary Motor Neuropathy Type 5b 12
Autosomal Dominant Spastic Paraplegia 17 12
Russell-Silver Syndrome 70
Dhmn5b 12

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant spastic paraplegia type 17
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
slow progression
onset of gait abnormalities at 8 to 40 years
onset of hand involvement at 14 to 60 years
wasting of the hands is the first and most prominent manifestation
allelic disorder to distal spinal muscular atrophy, type v (dsmav, ), but distinguished by the presence of spasticity

Inheritance:
autosomal dominant


HPO:

31
spastic paraplegia 17, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110770
OMIM® 57 270685
OMIM Phenotypic Series 57 PS303350
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 71 C2931276
Orphanet 58 ORPHA100998
MedGen 41 C2931276
UMLS 70 C0175693 C2931276 C3553656

Summaries for Spastic Paraplegia 17, Autosomal Dominant

MedlinePlus Genetics : 43 Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. Both types involve the lower limbs; the complex types may also involve the upper limbs, although to a lesser degree. In addition, the complex types may affect the brain and parts of the nervous system involved in muscle movement and sensations. Silver syndrome is a complex hereditary spastic paraplegia.The first sign of Silver syndrome is usually weakness in the muscles of the hands. These muscles waste away (amyotrophy), resulting in abnormal positioning of the thumbs and difficulty using the fingers and hands for tasks such as handwriting. People with Silver syndrome often have high-arched feet (pes cavus) and spasticity in the legs. The signs and symptoms of Silver syndrome typically begin in late childhood but can start anytime from early childhood to late adulthood. The muscle problems associated with Silver syndrome slowly worsen with age, but affected individuals can remain active throughout life.

MalaCards based summary : Spastic Paraplegia 17, Autosomal Dominant, also known as silver spastic paraplegia syndrome, is related to silver-russell syndrome 1 and spastic paraplegia 17. An important gene associated with Spastic Paraplegia 17, Autosomal Dominant is BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin), and among its related pathways/superpathways is Endocytosis. Affiliated tissues include eye, spinal cord and kidney, and related phenotypes are hyperreflexia and babinski sign

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the BSCL2 gene on chromosome 11q12.

UniProtKB/Swiss-Prot : 72 Spastic paraplegia 17, autosomal dominant: 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. SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5.

More information from OMIM: 270685 PS303350

Related Diseases for Spastic Paraplegia 17, Autosomal Dominant

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

(show top 50) (show all 182)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 1 32.8 TGM1 MEST KCNQ1OT1 IGF2 CDKN1C
2 spastic paraplegia 17 32.3 HNRNPUL2-BSCL2 BSCL2
3 neuronopathy, distal hereditary motor, type vc 32.0 HNRNPUL2-BSCL2 BSCL2
4 berardinelli-seip congenital lipodystrophy 30.7 HNRNPUL2-BSCL2 BSCL2
5 bscl2-related neurologic disorders/seipinopathy 30.5 GARS1 BSCL2
6 hemihyperplasia, isolated 30.2 KCNQ1OT1 IGF2 CDKN1C
7 neuropathy 30.2 ZFYVE26 SPG11 KIF5A GARS1 ATL1
8 motor neuron disease 30.2 SPAST SPART GARS1 BSCL2 ATL1
9 tooth disease 30.1 SPG11 HNRNPUL2-BSCL2 GARS1 BSCL2
10 charcot-marie-tooth disease, axonal, type 2e 29.9 ZFYVE26 SPG21 SPG11 SPAST KIF5A HNRNPUL2-BSCL2
11 charcot-marie-tooth disease 29.9 SPG11 REEP1 KIF5A HNRNPUL2-BSCL2 GARS1 BSCL2
12 beckwith-wiedemann syndrome 29.7 TGM1 MIR675 MEST KCNQ1OT1 IGF2 CDKN1C
13 neuronopathy, distal hereditary motor, type va 29.7 SPART REEP1 HNRNPUL2-BSCL2 GARS1 BSCL2 ATL1
14 spastic paraplegia 3, autosomal dominant 29.6 WASHC5 SPG11 SPAST REEP1 NIPA1 ATL1
15 angelman syndrome 29.5 NIPA1 MIR675 MEST KCNQ1OT1 IGF2 CDKN1C
16 paraplegia 29.1 ZFYVE27 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
17 spastic paraplegia 4, autosomal dominant 29.0 ZFYVE27 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
18 hereditary spastic paraplegia 29.0 ZFYVE27 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
19 partington x-linked mental retardation syndrome 11.2
20 neuronopathy, distal hereditary motor, type vb 11.2
21 russell-silver syndrome, x-linked 11.2
22 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 11.1
23 radioulnar synostosis-developmental delay-hypotonia syndrome 11.1
24 diencephalic syndrome 11.0
25 encephalopathy, progressive, with or without lipodystrophy 10.4 HNRNPUL2-BSCL2 BSCL2
26 silver-russell syndrome due to a point mutation 10.4 IGF2 CDKN1C
27 beckwith-wiedemann syndrome due to imprinting defect of 11p15 10.4 KCNQ1OT1 IGF2
28 thoracic outlet syndrome 10.3 GARS1 BSCL2
29 spastic paraplegia 41, autosomal dominant 10.3 SPG21 SPAST KIF5A
30 complex hereditary spastic paraplegia 10.3 SPG11 NIPA1
31 neuropathy, hereditary sensory, type id 10.3 SPAST KIF5A ATL1
32 spinal cord neuroblastoma 10.3 ZFYVE27 REEP1
33 spastic paraplegia 73, autosomal dominant 10.3 SPG21 REEP1 ATL1
34 spinal cord primitive neuroectodermal neoplasm 10.3 ZFYVE27 REEP1
35 nescav syndrome 10.3 ZFYVE26 REEP1
36 lipodystrophy, familial partial, type 3 10.3 HNRNPUL2-BSCL2 BSCL2
37 neuropathy, hereditary sensory, type iic 10.3 SPG21 SPG11 REEP1
38 spastic paraplegia 53, autosomal recessive 10.3 WASHC5 ATL1
39 spastic paraplegia 57, autosomal recessive 10.3 SPG11 REEP1 KIF5A
40 spastic paraplegia 43, autosomal recessive 10.3 SPG11 SPAST ATL1
41 spastic paraplegia 54, autosomal recessive 10.3 SPG21 SPG11 REEP1
42 spinal muscular atrophy, distal, autosomal recessive, 2 10.3 REEP1 GARS1 BSCL2
43 spastic paraplegia 45, autosomal recessive 10.3 SPG21 SPG11 SPART
44 charcot-marie-tooth disease, axonal, type 2r 10.3 ZFYVE26 SPG21
45 wilms tumor predisposition 10.3 KCNQ1OT1 IGF2 CDKN1C
46 spastic paraplegia 63, autosomal recessive 10.3 SPG21 SPG11
47 autosomal dominant distal hereditary motor neuronopathy 10.3 REEP1 GARS1 BSCL2
48 spastic paraplegia 28, autosomal recessive 10.3 SPG11 REEP1
49 autosomal recessive distal hereditary motor neuronopathy 10.3 REEP1 GARS1
50 hereditary spastic paraplegia 51 10.3 ZFYVE26 SPG21 SPG11

Graphical network of the top 20 diseases related to Spastic Paraplegia 17, Autosomal Dominant:



Diseases related to Spastic Paraplegia 17, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 17, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 17, Autosomal Dominant:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
2 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
3 spastic gait 58 31 frequent (33%) Frequent (79-30%) HP:0002064
4 foot dorsiflexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009027
5 abnormality of the foot musculature 58 31 frequent (33%) Frequent (79-30%) HP:0001436
6 hand muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009130
7 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
8 split hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0001171
9 hip pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0030838
10 distal sensory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002936
11 hand muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0030237
12 postural tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002174
13 ankle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0031374
14 knee pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0030839
15 abnormal motor nerve conduction velocity 58 31 occasional (7.5%) Occasional (29-5%) HP:0040131
16 pes cavus 31 HP:0001761
17 spastic paraplegia 31 HP:0001258
18 lower limb spasticity 31 HP:0002061
19 distal amyotrophy 58 Occasional (29-5%)
20 thenar muscle atrophy 31 HP:0003393
21 lower limb muscle weakness 31 HP:0007340
22 impaired vibration sensation in the lower limbs 31 HP:0002166
23 first dorsal interossei muscle weakness 31 HP:0003392
24 first dorsal interossei muscle atrophy 31 HP:0003426
25 thenar muscle weakness 31 HP:0003427

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
spastic gait
extensor plantar responses

Neurologic Peripheral Nervous System:
lower limb spasticity
thenar muscle atrophy
first dorsal interossei muscle weakness
first dorsal interossei muscle atrophy
thenar muscle weakness
more
Skeletal Feet:
pes cavus

Clinical features from OMIM®:

270685 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Spastic Paraplegia 17, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.44 ATL1 BSCL2 GARS1 IGF2 KIF5A MEST

Drugs & Therapeutics for Spastic Paraplegia 17, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 17, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 17, Autosomal Dominant

Anatomical Context for Spastic Paraplegia 17, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 17, Autosomal Dominant:

40
Eye, Spinal Cord, Kidney, Temporal Lobe

Publications for Spastic Paraplegia 17, Autosomal Dominant

Articles related to Spastic Paraplegia 17, Autosomal Dominant:

(show all 31)
# Title Authors PMID Year
1
Seipinopathy: a novel endoplasmic reticulum stress-associated disease. 57 6 61
18790819 2009
2
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. 57 6 61
16427281 2006
3
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. 6 57 61
14981520 2004
4
Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. 6 57
23553728 2013
5
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier? 6 57
19396477 2009
6
Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. 6 57
17387721 2007
7
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. 57 6
15732094 2005
8
Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. 6 57
1674639 1991
9
Familial spastic paraplegia with amyotrophy of the hands. 6 57
5964029 1966
10
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. 61 57
11389484 2001
11
N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress. 6
21750110 2011
12
Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs. 6
20806400 2010
13
Molecular genetics of distal hereditary motor neuropathies. 57
15358725 2004
14
Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes. 57
13680364 2003
15
Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci. 57
11471175 2001
16
Autosomal recessive paraparesis with amyotrophy of the hands and feet. 57
8395130 1993
17
Distal amyotrophy of predominantly the upper limbs with pyramidal features in a large kinship. 57
3981197 1985
18
Clinical features of inherited neuropathy with BSCL2 mutations in Japan. 61
32108980 2020
19
Promethin Is a Conserved Seipin Partner Protein. 61
30901948 2019
20
ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia. 61
27738760 2017
21
Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation. 61
27638887 2016
22
[Progressive spastic paraparesis and static syringomyelia: Silver syndrome/SPG17]. 61
26204091 2015
23
Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany. 61
24731568 2014
24
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
25
[BSCL2-related neurologic disorders/seipinopathy: endoplasmic reticulum stress in neurodegeneration]. 61
22277529 2011
26
Co-segregation of Huntington disease and hereditary spastic paraplegia in 4 generations. 61
21712667 2011
27
The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation. 61
18612770 2008
28
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 61
18364116 2008
29
Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy. 61
17486577 2007
30
A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia. 61
15372247 2004
31
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. 61
15242882 2004

Variations for Spastic Paraplegia 17, Autosomal Dominant

ClinVar genetic disease variations for Spastic Paraplegia 17, Autosomal Dominant:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu) SNV Pathogenic 4544 rs137852973 GRCh37: 11:62469965-62469965
GRCh38: 11:62702493-62702493
2 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.263A>G (p.Asn88Ser) SNV Pathogenic 4543 rs137852972 GRCh37: 11:62469971-62469971
GRCh38: 11:62702499-62702499
3 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu) SNV Pathogenic/Likely pathogenic 4544 rs137852973 GRCh37: 11:62469965-62469965
GRCh38: 11:62702493-62702493
4 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.1106C>T (p.Ala369Val) SNV Uncertain significance 566241 rs141657385 GRCh37: 11:62457930-62457930
GRCh38: 11:62690458-62690458
5 BSCL2 , HNRNPUL2-BSCL2 NM_001122955.4(BSCL2):c.629C>T (p.Ser210Leu) SNV Uncertain significance 1030050 GRCh37: 11:62462041-62462041
GRCh38: 11:62694569-62694569

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 17, Autosomal Dominant:

72
# Symbol AA change Variation ID SNP ID
1 BSCL2 p.Asn88Ser VAR_022375 rs137852972
2 BSCL2 p.Ser90Leu VAR_022376 rs137852973

Expression for Spastic Paraplegia 17, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 17, Autosomal Dominant.

Pathways for Spastic Paraplegia 17, Autosomal Dominant

Pathways related to Spastic Paraplegia 17, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.42 ZFYVE27 WASHC5 SPG21 SPART KIF5A

GO Terms for Spastic Paraplegia 17, Autosomal Dominant

Cellular components related to Spastic Paraplegia 17, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.8 ZFYVE27 WASHC5 SPAST REEP1 MEST BSCL2
2 endosome GO:0005768 9.72 ZFYVE27 WASHC5 SPG21 SPAST NIPA1
3 endoplasmic reticulum membrane GO:0005789 9.63 ZFYVE27 SPAST REEP1 MEST BSCL2 ATL1
4 lipid droplet GO:0005811 9.13 SPAST SPART BSCL2
5 endoplasmic reticulum tubular network GO:0071782 8.92 ZFYVE27 SPAST REEP1 ATL1

Biological processes related to Spastic Paraplegia 17, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid droplet organization GO:0034389 8.96 SPART BSCL2
2 synaptic vesicle transport GO:0048489 8.62 SPG11 KIF5A

Sources for Spastic Paraplegia 17, Autosomal Dominant

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....