SPG17
MCID: SPS219
MIFTS: 42

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, 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 56 73
Silver Spastic Paraplegia Syndrome 56 12 25 73 13
Silver Syndrome 56 12 25 58 73
Spg17 56 12 25 58 73
Spastic Paraplegia with Amyotrophy of Hands and Feet 56 12 25 73
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 25 71
Paraplegia, Spastic, Autosomal Dominant, Type 17 39
Neuronopathy, Distal Hereditary Motor, Type Vb 71
Distal Hereditary Motor Neuropathy Type 5b 12
Autosomal Dominant Spastic Paraplegia 17 12
Russell-Silver Syndrome 71
Dhmn5b 12

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 270685
OMIM Phenotypic Series 56 PS303350
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C2931276
Orphanet 58 ORPHA100998
MedGen 41 C2931276
UMLS 71 C0175693 C2931276 C3553656

Summaries for Spastic Paraplegia 17, Autosomal Dominant

Genetics Home Reference : 25 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 berardinelli-seip congenital lipodystrophy. 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 brain, 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 : 73 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
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 193)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 1 32.7 TGM1 KCNQ1OT1 IGF2 GRB10 CDKN1C
2 berardinelli-seip congenital lipodystrophy 30.7 BSCL2 AGPAT2
3 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.7 BSCL2 AGPAT2
4 spasticity 30.4 WASHC5 SPAST REEP1
5 lipodystrophy, congenital generalized, type 1 30.3 BSCL2 AGPAT2
6 bscl2-related neurologic disorders/seipinopathy 30.3 GARS1 BSCL2
7 motor neuron disease 30.0 SPAST SPART GARS1 BSCL2
8 hemihyperplasia, isolated 30.0 KCNQ1OT1 IGF2 CDKN1C
9 gars1-associated axonal neuropathy 29.9 GARS1 BSCL2
10 neuronopathy, distal hereditary motor, type va 29.5 SPART REEP1 GARS1 BSCL2 ATL1 AGPAT2
11 beckwith-wiedemann syndrome 28.6 TGM1 MIR675 KCNQ1OT1 IGF2 GRB10 CDKN1C
12 spastic paraplegia 3, autosomal dominant 28.6 ZFYVE26 WASHC5 SPG11 SPAST REEP1 NIPA1
13 charcot-marie-tooth disease 28.2 ZFYVE27 ZFYVE26 SPG11 SPAST REEP1 KIF5A
14 hereditary spastic paraplegia 28.0 ZFYVE27 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
15 paraplegia 28.0 ZFYVE27 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
16 spastic paraplegia 4, autosomal dominant 27.4 ZFYVE27 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
17 russell-silver syndrome, x-linked 12.3
18 der kaloustian mcintosh silver syndrome 12.2
19 spastic paraplegia 17 11.6
20 neuronopathy, distal hereditary motor, type vb 11.5
21 diencephalic syndrome 11.5
22 partington x-linked mental retardation syndrome 11.4
23 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 11.3
24 adiposis dolorosa 10.5 BSCL2 AGPAT2
25 lipodystrophy, familial partial, type 1 10.5 BSCL2 AGPAT2
26 lipodystrophy, congenital generalized, type 4 10.5 BSCL2 AGPAT2
27 lipodystrophy, congenital generalized, type 3 10.5 BSCL2 AGPAT2
28 acquired generalized lipodystrophy 10.4 BSCL2 AGPAT2
29 neuropathy, hereditary sensory, type id 10.4 KIF5A ATL1
30 silver-russell syndrome due to a point mutation 10.4 IGF2 CDKN1C
31 lipodystrophy, familial partial, type 3 10.4 BSCL2 AGPAT2
32 spastic paraplegia 41, autosomal dominant 10.4 SPG21 SPAST
33 spastic paraplegia 27, autosomal recessive 10.4 SPG21 REEP1
34 beckwith-wiedemann syndrome due to imprinting defect of 11p15 10.4 KCNQ1OT1 IGF2
35 spastic paraplegia 64, autosomal recessive 10.4 SPG21 SPG11
36 complete generalized lipodystrophy 10.3 BSCL2 AGPAT2
37 complex hereditary spastic paraplegia 10.3 SPG11 NIPA1
38 spinal cord neuroblastoma 10.3 ZFYVE27 REEP1
39 spinal cord primitive neuroectodermal neoplasm 10.3 ZFYVE27 REEP1
40 spastic paraplegia 73, autosomal dominant 10.3 SPG21 REEP1 ATL1
41 spastic paraplegia 28, autosomal recessive 10.3 SPG11 REEP1
42 lipodystrophy, congenital generalized, type 2 10.3 BSCL2 AGPAT2
43 charcot-marie-tooth disease, axonal, type 2r 10.3 ZFYVE26 SPG21
44 spastic paraplegia 45, autosomal recessive 10.3 SPG21 SPG11
45 lipodystrophy, familial partial, type 5 10.3 BSCL2 AGPAT2
46 spastic paraplegia 63, autosomal recessive 10.3 SPG21 SPG11
47 spastic paraplegia 53, autosomal recessive 10.3 WASHC5 ATL1
48 adrenal cortex disease 10.3 MIR675 IGF2 CDKN1C
49 adrenal cortical carcinoma 10.3 MIR675 IGF2 CDKN1C
50 neuropathy, hereditary sensory, type iic 10.3 SPG21 SPG11 REEP1

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 distal amyotrophy 58 Occasional (29-5%)
19 lower limb spasticity 31 HP:0002061
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:

56
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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.4 AGPAT2 ATL1 BSCL2 GARS1 IGF2 KIF5A

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
Brain

Publications for Spastic Paraplegia 17, Autosomal Dominant

Articles related to Spastic Paraplegia 17, Autosomal Dominant:

(show all 31)
# Title Authors PMID Year
1
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. 56 61 6
16427281 2006
2
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. 61 6 56
14981520 2004
3
Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. 6 56
23553728 2013
4
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier? 56 6
19396477 2009
5
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. 56 6
15732094 2005
6
Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. 6 56
1674639 1991
7
Familial spastic paraplegia with amyotrophy of the hands. 56 6
5964029 1966
8
Seipinopathy: a novel endoplasmic reticulum stress-associated disease. 61 56
18790819 2009
9
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. 61 56
11389484 2001
10
Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. 56
17387721 2007
11
BSCL2-Related Neurologic Disorders/Seipinopathy 6
20301484 2005
12
Molecular genetics of distal hereditary motor neuropathies. 56
15358725 2004
13
Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes. 56
13680364 2003
14
Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci. 56
11471175 2001
15
Hereditary Spastic Paraplegia Overview 6
20301682 2000
16
Autosomal recessive paraparesis with amyotrophy of the hands and feet. 56
8395130 1993
17
Distal amyotrophy of predominantly the upper limbs with pyramidal features in a large kinship. 56
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 GRCh37 Pos GRCh38 Pos
1 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.263A>G (p.Asn88Ser)SNV Pathogenic 4543 rs137852972 11:62469971-62469971 11:62702499-62702499
2 BSCL2 NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu)SNV Pathogenic 4544 rs137852973 11:62469965-62469965 11:62702493-62702493
3 BSCL2 NM_032667.6(BSCL2):c.1106C>T (p.Ala369Val)SNV Uncertain significance 566241 rs141657385 11:62457930-62457930 11:62690458-62690458

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

73
# 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 BSCL2 ATL1
2 endosome GO:0005768 9.72 ZFYVE27 WASHC5 SPG21 SPAST NIPA1
3 endoplasmic reticulum membrane GO:0005789 9.63 ZFYVE27 SPAST REEP1 BSCL2 ATL1 AGPAT2
4 lipid droplet GO:0005811 9.13 SPAST SPART BSCL2
5 endoplasmic reticulum tubular network GO:0071782 8.8 ZFYVE27 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 9.16 SPART BSCL2
2 synaptic vesicle transport GO:0048489 8.96 SPG11 KIF5A
3 negative regulation of phosphorylation GO:0042326 8.62 GRB10 CDKN1C

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 IGF2 GRB10

Sources for Spastic Paraplegia 17, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....