MCID: SPS188
MIFTS: 24

Spastic Paraplegia-Paget Disease of Bone Syndrome

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spastic Paraplegia-Paget Disease of Bone Syndrome

MalaCards integrated aliases for Spastic Paraplegia-Paget Disease of Bone Syndrome:

Name: Spastic Paraplegia-Paget Disease of Bone Syndrome 58 6

Characteristics:

Orphanet epidemiological data:

58
spastic paraplegia-paget disease of bone syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 G11.4
Orphanet 58 ORPHA329475

Summaries for Spastic Paraplegia-Paget Disease of Bone Syndrome

MalaCards based summary : Spastic Paraplegia-Paget Disease of Bone Syndrome is related to multisystem proteinopathy and mammary paget's disease. An important gene associated with Spastic Paraplegia-Paget Disease of Bone Syndrome is SQSTM1 (Sequestosome 1). Affiliated tissues include bone and tongue, and related phenotypes are spastic paraplegia and babinski sign

Related Diseases for Spastic Paraplegia-Paget Disease of Bone Syndrome

Graphical network of the top 20 diseases related to Spastic Paraplegia-Paget Disease of Bone Syndrome:



Diseases related to Spastic Paraplegia-Paget Disease of Bone Syndrome

Symptoms & Phenotypes for Spastic Paraplegia-Paget Disease of Bone Syndrome

Human phenotypes related to Spastic Paraplegia-Paget Disease of Bone Syndrome:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spastic paraplegia 58 31 obligate (100%) Obligate (100%) HP:0001258
2 babinski sign 58 31 obligate (100%) Obligate (100%) HP:0003487
3 generalized muscle weakness 58 31 obligate (100%) Obligate (100%) HP:0003324
4 spastic gait 58 31 obligate (100%) Obligate (100%) HP:0002064
5 elevated alkaline phosphatase 58 31 obligate (100%) Obligate (100%) HP:0003155
6 lower limb hyperreflexia 58 31 obligate (100%) Obligate (100%) HP:0002395
7 emg: neuropathic changes 58 31 obligate (100%) Obligate (100%) HP:0003445
8 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
9 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
10 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
11 increased spinal bone density 58 31 hallmark (90%) Very frequent (99-80%) HP:0004563
12 limb fasciculations 58 31 frequent (33%) Frequent (79-30%) HP:0007289
13 tongue fasciculations 58 31 frequent (33%) Frequent (79-30%) HP:0001308
14 gait disturbance 58 Obligate (100%)
15 abnormality of skeletal morphology 58 Very frequent (99-80%)

Drugs & Therapeutics for Spastic Paraplegia-Paget Disease of Bone Syndrome

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia-Paget Disease of Bone Syndrome

Genetic Tests for Spastic Paraplegia-Paget Disease of Bone Syndrome

Anatomical Context for Spastic Paraplegia-Paget Disease of Bone Syndrome

MalaCards organs/tissues related to Spastic Paraplegia-Paget Disease of Bone Syndrome:

40
Bone, Tongue

Publications for Spastic Paraplegia-Paget Disease of Bone Syndrome

Articles related to Spastic Paraplegia-Paget Disease of Bone Syndrome:

(show all 19)
# Title Authors PMID Year
1
Zoledronic acid prevents pagetic-like lesions and accelerated bone loss in the p62P394L mouse model of Paget's disease. 6
30154079 2018
2
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations. 6
29457785 2018
3
Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features. 6
29599744 2018
4
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. 6
28430856 2017
5
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis. 6
27594680 2016
6
The Implications of the Sequestosome 1 Mutation P392L in Patients with Paget's Disease in a United States Cohort. 6
26713335 2016
7
Targeted next-generation sequencing assay for detection of mutations in primary myopathies. 6
26627873 2016
8
SQSTM1 Mutations and Glaucoma. 6
27275741 2016
9
Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone. 6
25241215 2015
10
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. 6
24899140 2014
11
Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB. 6
23942205 2014
12
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. 6
24042580 2013
13
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology. 6
23417734 2013
14
Contributions of the measles virus nucleocapsid gene and the SQSTM1/p62(P392L) mutation to Paget's disease. 6
21195346 2011
15
The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts. 6
19589897 2009
16
A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment. 6
18765443 2008
17
Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone. 6
17229007 2006
18
Structural and functional studies of mutations affecting the UBA domain of SQSTM1 (p62) which cause Paget's disease of bone. 6
15493999 2004
19
Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. 6
11992264 2002

Variations for Spastic Paraplegia-Paget Disease of Bone Syndrome

ClinVar genetic disease variations for Spastic Paraplegia-Paget Disease of Bone Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SQSTM1 NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) SNV Pathogenic 8108 rs104893941 GRCh37: 5:179263445-179263445
GRCh38: 5:179836445-179836445

Expression for Spastic Paraplegia-Paget Disease of Bone Syndrome

Search GEO for disease gene expression data for Spastic Paraplegia-Paget Disease of Bone Syndrome.

Pathways for Spastic Paraplegia-Paget Disease of Bone Syndrome

GO Terms for Spastic Paraplegia-Paget Disease of Bone Syndrome

Biological processes related to Spastic Paraplegia-Paget Disease of Bone Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin-dependent protein catabolic process GO:0006511 9.16 VCP SQSTM1
2 autophagy GO:0006914 8.96 VCP SQSTM1
3 macroautophagy GO:0016236 8.62 VCP SQSTM1

Molecular functions related to Spastic Paraplegia-Paget Disease of Bone Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 8.96 VCP SQSTM1
2 ubiquitin protein ligase binding GO:0031625 8.62 VCP SQSTM1

Sources for Spastic Paraplegia-Paget Disease of Bone Syndrome

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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