SPG17
MCID: SPS219
MIFTS: 47

Spastic Paraplegia 17, Autosomal Dominant (SPG17)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare 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 58 76
Silver Spastic Paraplegia Syndrome 58 12 26 76 30 13 6
Silver Syndrome 58 12 26 60 76
Spg17 58 12 26 60 76
Spastic Paraplegia with Amyotrophy of Hands and Feet 58 12 26 76
Spastic Paraplegia-Amyotrophy of Hands and Feet 12 60
Autosomal Dominant Spastic Paraplegia Type 17 12 60
Hereditary Spastic Paraplegia 17 12 15
Spastic Paraplegia 17 26 74
Paraplegia, Spastic, Autosomal Dominant, Type 17 41
Neuronopathy, Distal Hereditary Motor, Type Vb 74
Distal Hereditary Motor Neuropathy Type 5b 12
Autosomal Dominant Spastic Paraplegia 17 12
Russell-Silver Syndrome 74
Dhmn5b 12

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant spastic paraplegia type 17
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
spastic paraplegia 17, autosomal dominant:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spastic Paraplegia 17, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Spastic Paraplegia 17, Autosomal Dominant, also known as silver spastic paraplegia syndrome, is related to silver-russell syndrome and hemihyperplasia, isolated. 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 Endochondral Ossification. Affiliated tissues include brain, skin 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.

Genetics Home Reference : 26 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.

Description from OMIM: 270685

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 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 Spastic Paraplegia 80, Autosomal Dominant
Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia 23
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 47
Spastic Paraplegia 51 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 67)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 32.9 CDKN1C GRB10 IGF2 KCNQ1OT1
2 hemihyperplasia, isolated 29.2 CDKN1C IGF2 KCNQ1OT1
3 russell-silver syndrome, x-linked 12.1
4 der kaloustian mcintosh silver syndrome 12.1
5 neuronopathy, distal hereditary motor, type vb 11.4
6 partington x-linked mental retardation syndrome 11.3
7 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 11.2
8 spastic paraplegia 17 11.1
9 diencephalic syndrome 11.0
10 berardinelli-seip congenital lipodystrophy 10.2 AGPAT2 BSCL2
11 lipodystrophy, congenital generalized, type 2 10.2 AGPAT2 BSCL2
12 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.2 AGPAT2 BSCL2
13 complete generalized lipodystrophy 10.2 AGPAT2 BSCL2
14 lipodystrophy, congenital generalized, type 1 10.2 AGPAT2 BSCL2
15 lipodystrophy, familial partial, type 3 10.2 AGPAT2 BSCL2
16 pigmentation disease 10.2 AGPAT2 BSCL2
17 lipodystrophy, congenital generalized, type 3 10.2 AGPAT2 BSCL2
18 congenital generalized lipodystrophy 10.2 AGPAT2 BSCL2
19 hereditary spastic paraplegia 10.1
20 paraplegia 10.1
21 lipodystrophy, congenital generalized, type 4 10.1 AGPAT2 BSCL2
22 silver-russell syndrome due to a point mutation 10.1 CDKN1C IGF2
23 familial partial lipodystrophy 10.1 AGPAT2 BSCL2
24 beckwith-wiedemann syndrome due to imprinting defect of 11p15 10.1 IGF2 KCNQ1OT1
25 acquired generalized lipodystrophy 10.1 AGPAT2 BSCL2
26 hereditary wilms' tumor 10.1 CDKN1C IGF2
27 neuropathy 9.9
28 charcot-marie-tooth hereditary neuropathy 9.9
29 omphalocele 9.9 CDKN1C KCNQ1OT1
30 hypoglycemia 9.9
31 distal hereditary motor neuropathy, type v 9.9
32 beckwith-wiedemann syndrome 9.8 CDKN1C IGF2 KCNQ1OT1
33 spastic paraplegia 4, autosomal dominant 9.8
34 hypopituitarism 9.8
35 spastic paraplegia 4 9.8
36 chromosomal triplication 9.8
37 growth hormone deficiency 9.8
38 mosaic trisomy 7 9.8
39 wilms tumor 1 9.8 CDKN1C IGF2 KCNQ1OT1
40 hepatoblastoma 9.7 CDKN1C IGF2
41 diabetes mellitus, transient neonatal, 1 9.7 GNAS-AS1 GRB10 KCNQ1OT1
42 umbilical hernia 9.6 CDKN1C GNAS-AS1 IGF2
43 hepatocellular carcinoma 9.6
44 cleft palate, isolated 9.6
45 legg-calve-perthes disease 9.6
46 schizophrenia 9.6
47 spastic paraplegia 3, autosomal dominant 9.6
48 testicular torsion 9.6
49 torticollis 9.6
50 cystic fibrosis 9.6

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:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
2 babinski sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487
3 hand muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0009130
4 foot dorsiflexor weakness 60 33 frequent (33%) Frequent (79-30%) HP:0009027
5 spastic gait 60 33 frequent (33%) Frequent (79-30%) HP:0002064
6 pes planus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001763
7 split hand 60 33 occasional (7.5%) Occasional (29-5%) HP:0001171
8 postural tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0002174
9 hand muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0030237
10 distal sensory impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002936
11 abnormal motor nerve conduction velocity 60 33 occasional (7.5%) Occasional (29-5%) HP:0040131
12 ankle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0031374
13 hip pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0030838
14 knee pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0030839
15 pes cavus 33 HP:0001761
16 spastic paraplegia 33 HP:0001258
17 lower limb muscle weakness 33 HP:0007340
18 lower limb spasticity 33 HP:0002061
19 impaired vibration sensation in the lower limbs 33 HP:0002166
20 thenar muscle atrophy 33 HP:0003393
21 first dorsal interossei muscle weakness 33 HP:0003392
22 first dorsal interossei muscle atrophy 33 HP:0003426
23 thenar muscle weakness 33 HP:0003427
24 abnormality of the foot musculature 60 Frequent (79-30%)
25 distal amyotrophy 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.4 IGF2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.4 IGF2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.4 AGPAT2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.4 IGF2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.4 AGPAT2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.4 AGPAT2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.4 IGF2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.4 CDKN1C
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.4 IGF2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.4 AGPAT2 CDKN1C IGF2

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

Genetic tests related to Spastic Paraplegia 17, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Silver Spastic Paraplegia Syndrome 30

Anatomical Context for Spastic Paraplegia 17, Autosomal Dominant

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

42
Brain, Skin, Kidney, Bone, Heart, Spinal Cord, Pituitary

Publications for Spastic Paraplegia 17, Autosomal Dominant

Articles related to Spastic Paraplegia 17, Autosomal Dominant:

(show top 50) (show all 133)
# Title Authors Year
1
Russell-Silver syndrome with cleft palate: a case report. ( 30515601 )
2019
2
Russell-Silver syndrome presenting with ambiguous genitalia. ( 27998648 )
2017
3
Seminoma in a Man with Russell-Silver Syndrome Presenting with Testicular Torsion. ( 27034882 )
2016
4
Systemic and maxillofacial characteristics of 11 Japanese children with Russell-Silver syndrome. ( 26915482 )
2016
5
Twin Legacies: Victor and Vincent McKusick/Twin Studies: Twinning Rates I; Twinning Rates II; MZ Twin Discordance for Russell-Silver Syndrome; Twins' Language Skills/Headlines: Babies Born to Identical Twin Couples; Identity Exchange; Death of Princess Ashraf (Twin); Yahoo CEO Delivers Identical Twins. ( 26934824 )
2016
6
Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome. ( 27374371 )
2016
7
Russell-Silver syndrome associated with low conus medullaris. ( 28217167 )
2016
8
Russel-Silver syndrome: A historical note and comment on an older adult. ( 26525433 )
2016
9
Cerebral aneurysms and accelerated atherosclerosis in Russell-Silver syndrome: a new subtype? Case report. ( 25555030 )
2015
10
Occlusal Characteristics of Individuals with Growth Hormone Deficiency, Idiopathic Short Stature, and Russell-Silver Syndrome. ( 26731248 )
2015
11
Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome. ( 25395389 )
2015
12
Adult phenotype of Russell-Silver syndrome: A molecular support for Barker-Brenner's theory. ( 25639378 )
2015
13
Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell-Silver syndrome. ( 26358311 )
2015
14
Prosthetic management of a growing patient with Russell-Silver syndrome: a clinical report. ( 26576258 )
2015
15
Spinal Deformity in Russell-Silver Syndrome. ( 27927458 )
2015
16
BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature. ( 25487175 )
2015
17
BSCL2 N88S mutation in a Portuguese patient with the Silver syndrome. ( 25219579 )
2015
18
Dilated cardiomyopathy in a 32-year-old woman with Russell-Silver syndrome. ( 24075556 )
2014
19
Case report of schizophrenia in adolescent with Russell-Silver syndrome. ( 24521140 )
2014
20
Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylation. ( 25044976 )
2014
21
Myoclonus-dystonia syndrome associated with Russell Silver syndrome. ( 23703955 )
2013
22
Generalized lichen nitidus in Russell-Silver syndrome. ( 22329413 )
2013
23
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome. ( 24065356 )
2013
24
Limb lengthening in children with Russell-Silver syndrome: a comparison to other etiologies. ( 24432074 )
2013
25
Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. ( 23553728 )
2013
26
Torticollis as the main presentation in a child with russell-silver syndrome: a case report. ( 23198234 )
2012
27
Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome. ( 21204802 )
2012
28
Family caregiver distress with children having rare genetic disorders: a qualitative study involving Russell-Silver Syndrome in Taiwan. ( 21410572 )
2012
29
Russell Silver syndrome: a perspective on growth and the influence of growth hormone therapy. ( 23087879 )
2012
30
Methylation profiling in individuals with Russell-Silver syndrome. ( 20082469 )
2010
31
Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection. ( 20385510 )
2010
32
Effect of long-term growth hormone treatment on final height of children with Russell-Silver syndrome. ( 20424422 )
2010
33
Russell-Silver syndrome. ( 20803658 )
2010
34
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. ( 20598714 )
2010
35
Hand anomalies in Russell Silver syndrome. ( 18171637 )
2009
36
Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay. ( 19814617 )
2009
37
Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome. ( 19876907 )
2009
38
Russell-Silver syndrome: twin presentation. ( 21686899 )
2009
39
Novel SPG3A and SPG4 mutations in two patients with Silver syndrome. ( 19730024 )
2009
40
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier? ( 19396477 )
2009
41
Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. ( 18401025 )
2008
42
Silver syndrome: The complexity of complicated hereditary spastic paraplegia. ( 18490616 )
2008
43
The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation. ( 18612770 )
2008
44
Russell-Silver syndrome and nonverbal learning disability: a case study. ( 17523887 )
2007
45
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. ( 17504900 )
2007
46
Russell-Silver syndrome. ( 17511949 )
2007
47
Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy. ( 17486577 )
2007
48
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. ( 17663003 )
2007
49
[Silver syndrome--case report]. ( 18224579 )
2007
50
Russell-Silver syndrome: anaesthetic implications and management. ( 16921710 )
2006

Variations for Spastic Paraplegia 17, Autosomal Dominant

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

76
# Symbol AA change Variation ID SNP ID
1 BSCL2 p.Asn88Ser VAR_022375 rs137852972
2 BSCL2 p.Ser90Leu VAR_022376 rs137852973

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BSCL2; HNRNPUL2-BSCL2 NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser) single nucleotide variant Pathogenic rs137852972 GRCh37 Chromosome 11, 62469971: 62469971
2 BSCL2; HNRNPUL2-BSCL2 NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser) single nucleotide variant Pathogenic rs137852972 GRCh38 Chromosome 11, 62702499: 62702499
3 BSCL2 NM_032667.6(BSCL2): c.269C> T (p.Ser90Leu) single nucleotide variant Pathogenic rs137852973 GRCh37 Chromosome 11, 62469965: 62469965
4 BSCL2 NM_032667.6(BSCL2): c.269C> T (p.Ser90Leu) single nucleotide variant Pathogenic rs137852973 GRCh38 Chromosome 11, 62702493: 62702493
5 BSCL2 NM_032667.6(BSCL2): c.1106C> T (p.Ala369Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 62690458: 62690458
6 BSCL2 NM_032667.6(BSCL2): c.1106C> T (p.Ala369Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 62457930: 62457930

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 10.44 CDKN1C IGF2

GO Terms for Spastic Paraplegia 17, Autosomal Dominant

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cold-induced thermogenesis GO:0120162 9.16 BSCL2 GRB10
2 negative regulation of phosphorylation GO:0042326 8.96 CDKN1C GRB10
3 embryonic placenta morphogenesis GO:0060669 8.62 CDKN1C IGF2

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

# Name GO ID Score Top Affiliating Genes
1 insulin receptor binding GO:0005158 8.62 GRB10 IGF2

Sources for Spastic Paraplegia 17, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....