PDB3
MCID: PGT007
MIFTS: 41

Paget Disease of Bone 3 (PDB3)

Categories: Bone diseases, Cancer diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Paget Disease of Bone 3

MalaCards integrated aliases for Paget Disease of Bone 3:

Name: Paget Disease of Bone 3 57 73 28 5
Osteitis Deformans 73 71
Pdb3 57 73
Paget Disease of Bone, Type 3 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset usually after age 40
incomplete age-dependent penetrance
axial skeleton most commonly affected


Classifications:



External Ids:

OMIM® 57 167250
OMIM Phenotypic Series 57 PS167250
MeSH 43 D010001
UMLS 71 C0029401

Summaries for Paget Disease of Bone 3

UniProtKB/Swiss-Prot: 73 A disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone.

MalaCards based summary: Paget Disease of Bone 3, also known as osteitis deformans, is related to paget's disease of bone and mammary paget's disease, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Paget Disease of Bone 3 is SQSTM1 (Sequestosome 1). The drugs Zoledronic acid and Alendronic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and bone marrow, and related phenotypes are hearing impairment and osteosarcoma

OMIM®: 57 Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014). (167250) (Updated 08-Dec-2022)

Related Diseases for Paget Disease of Bone 3

Diseases in the Paget's Disease of Bone family:

Paget Disease of Bone 3 Paget Disease of Bone 5, Juvenile-Onset
Paget Disease of Bone 2, Early-Onset Paget Disease of Bone 4
Paget Disease of Bone 6

Diseases related to Paget Disease of Bone 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 paget's disease of bone 11.9
2 mammary paget's disease 11.4
3 paget disease of bone 5, juvenile-onset 11.3
4 bone inflammation disease 11.2
5 osteogenic sarcoma 10.4
6 bone disease 10.4
7 sarcoma 10.3
8 osteoporosis 10.3
9 angioid streaks 10.3
10 bone mineral density quantitative trait locus 8 10.3
11 bone mineral density quantitative trait locus 15 10.3
12 3-methylglutaconic aciduria, type iii 10.2
13 osteomyelitis 10.2
14 paraplegia 10.2
15 osteoarthritis 10.2
16 progressive familial heart block, type ia 10.0
17 glioma susceptibility 1 10.0
18 endosteal hyperostosis, autosomal dominant 10.0
19 myotonic dystrophy 1 10.0
20 mccune-albright syndrome 10.0
21 protrusio acetabuli 10.0
22 chronic recurrent multifocal osteomyelitis 10.0
23 pseudoxanthoma elasticum 10.0
24 kearns-sayre syndrome 10.0
25 gallbladder disease 1 10.0
26 aortic valve disease 2 10.0
27 aortic valve disease 3 10.0
28 atrioventricular block 10.0
29 fibrous dysplasia 10.0
30 bone sarcoma 10.0
31 progressive familial heart block 10.0
32 cholelithiasis 10.0
33 osteomalacia 10.0
34 rickets 10.0
35 hypoparathyroidism 10.0
36 cauda equina syndrome 10.0
37 limb-girdle muscular dystrophy 10.0
38 otosclerosis 10.0
39 acoustic neuroma 10.0
40 respiratory syncytial virus infectious disease 10.0
41 glanders 10.0
42 iritis 10.0
43 anterior uveitis 10.0
44 optic nerve disease 10.0
45 rectal benign neoplasm 10.0
46 rectum cancer 10.0
47 spondylosis 10.0
48 arteriosclerosis 10.0
49 acromegaly 10.0
50 malignant giant cell tumor 10.0

Graphical network of the top 20 diseases related to Paget Disease of Bone 3:



Diseases related to Paget Disease of Bone 3

Symptoms & Phenotypes for Paget Disease of Bone 3

Human phenotypes related to Paget Disease of Bone 3:

30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 30 Occasional (7.5%) HP:0000365
2 osteosarcoma 30 HP:0002669
3 bone pain 30 HP:0002653
4 osteolysis 30 HP:0002797
5 fractures of the long bones 30 HP:0003084
6 patchy osteosclerosis 30 HP:0005686
7 elevated circulating alkaline phosphatase concentration 30 HP:0003155

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal:
bone pain
increased and disorganized bone remodeling
mixed regions of osteosclerosis and osteolysis
abnormal uptake of radio-labelled bisphosphates in affected sites on bone scan
deformity or enlargement of bones
more
Laboratory Abnormalities:
increased alkaline phosphatase

Head And Neck Ears:
deafness (in some patients)

Clinical features from OMIM®:

167250 (Updated 08-Dec-2022)

UMLS symptoms related to Paget Disease of Bone 3:


back pain; sciatica; muscle cramp

Drugs & Therapeutics for Paget Disease of Bone 3

Drugs for Paget Disease of Bone 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zoledronic acid Approved Phase 4 118072-93-8 68740
2
Alendronic acid Approved Phase 4 121268-17-5, 66376-36-1 2088
3
Pamidronic acid Approved Phase 4 40391-99-9 4674
4
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
5 Calcium, Dietary Phase 4
6 Pharmaceutical Solutions Phase 4
7 Vitamins Phase 4
8 Trace Elements Phase 4
9 Calciferol Phase 4
10 Hormones Phase 4
11 Micronutrients Phase 4
12 Diphosphonates Phase 4
13
Calcium Nutraceutical Phase 4 7440-70-2 271
14
Risedronic acid Approved, Investigational Phase 3 105462-24-6 5245
15
Etidronic acid Approved Phase 3 2809-21-4, 7414-83-7 3305
16 calcium channel blockers Phase 3
17 Fluorides

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 A 6 Months, Open-Label Phase IV Study to Confirm the Safety and Efficacy of Single Intravenous Dose of 5 mg Zoledronic Acid for the Patients of Paget's Disease of Bone (PDB) in China Completed NCT00774020 Phase 4 Zoledronic acid
2 An Open Label, Reclast®/Aclasta®, Re-treatment of Relapsed Patients With Paget's Disease of Bone Who Participated in the CZOL446K2304 and CZOL446K2305 Core Registration Studies Completed NCT00740129 Phase 4 Zoledronic Acid
3 Post US Approval Voluntary Registry Study to Determine Incidence of Hypocalcemia Post Reclast® Treatment in Patients With Paget's Disease After Institution of Educational Strategies to Improve Adherence to Calcium and Vitamin D Supplementation Completed NCT00668200 Phase 4 Reclast (ZOL446, zoledronic acid)
4 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4 Alendronate;Pamidronate
5 A 6-Month, Multicenter, Double-Blind, Randomized, Active-Controlled Study to Evaluate the Safety, Tolerability, and Efficacy of Alendronate 280-mg Oral Buffered Solution Once Weekly in Patients With Paget's Disease of Bone Completed NCT00480662 Phase 3 alendronate
6 Randomized, Double-blind, Safety and Efficacy Trial With Intravenous Zoledronic Acid for the Treatment of Paget's Disease of Bone Using Risedronate as a Comparator, Including an Extended Observational Period Completed NCT00051636 Phase 3 Zoledronic Acid;Risedronate;Placebo to Risedronate;Placebo to Zoledronic Acid
7 Randomized, Double-Blind, Safety and Efficacy Trial With Intravenous Zoledronic Acid for the Treatment of Paget's Disease of Bone Using Risedronate as a Comparator, Including an Extended Observation Period Completed NCT00103740 Phase 3 zoledronic acid;placebo to zoledronic acid;Risedronate;Placebo to risedronate;Calcium and vitamin D supplements
8 Preliminary Study for Identification of Calcium-Binding Proteins in the Serum in Various Metabolic Bone Disorders Unknown status NCT00403598
9 Genetic Study of Families Affected by Paget's Disease of Bone Completed NCT00747994
10 Sodium Risedronate 17.5 mg Tablets Special Drug Use Surveillance in Patients With Osseous Paget's Disease (All-case Surveillance) - 48-week Surveillance - Completed NCT02106455 Sodium risedronate
11 Use of 18F-Fluoride Positron Emission Tomography in the Assessment and Evaluation of Therapy in Monostotic Paget's Disease of Bone Completed NCT00306046 Bisphosphonate treatment
12 Genetic Analysis to Predict the Development of Paget's Disease Recruiting NCT05309954
13 Characterization of Familial Myopathy and Paget Disease of Bone Recruiting NCT01353430
14 Investigation of Pathophysiology of Angiogenesis and Osteogenesis in Paget's Disease of Bone Active, not recruiting NCT02802384

Search NIH Clinical Center for Paget Disease of Bone 3

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Calcitonin
salmon calcitonin

Genetic Tests for Paget Disease of Bone 3

Genetic tests related to Paget Disease of Bone 3:

# Genetic test Affiliating Genes
1 Paget Disease of Bone 3 28 SQSTM1

Anatomical Context for Paget Disease of Bone 3

Organs/tissues related to Paget Disease of Bone 3:

MalaCards : Bone, Spinal Cord, Bone Marrow, Prostate, Salivary Gland, Temporal Lobe, Trachea

Publications for Paget Disease of Bone 3

Articles related to Paget Disease of Bone 3:

(show top 50) (show all 384)
# Title Authors PMID Year
1
Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. 62 57 5
12374763 2002
2
Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. 62 57 5
11992264 2002
3
Paget disease of bone: mapping of two loci at 5q35-qter and 5q31. 62 57
11473345 2001
4
Absence of HLA linkage in a family with osteitis deformans (Paget's disease of bone). 62 57
3163858 1988
5
The hereditary aspects of Paget's diseace: (osteitis deformans). 62 57
5695397 1968
6
Paget's disease (Osteitis deformans) and heredity. 62 57
17948387 1949
7
On a Form of Chronic Inflammation of Bones (Osteitis Deformans). 62 57
20896492 1877
8
The Implications of the Sequestosome 1 Mutation P392L in Patients with Paget's Disease in a United States Cohort. 5
26713335 2016
9
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. 5
26208961 2015
10
Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone. 5
25241215 2015
11
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. 5
24899140 2014
12
Genetics of Paget's disease of bone. 57
24988994 2014
13
Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB. 5
23942205 2014
14
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. 5
24042580 2013
15
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology. 5
23417734 2013
16
Mutant p62P392L stimulation of osteoclast differentiation in Paget's disease of bone. 5
21878516 2011
17
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. 5
22084127 2011
18
A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice. 5
21515589 2011
19
Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 57
21623375 2011
20
Contributions of the measles virus nucleocapsid gene and the SQSTM1/p62(P392L) mutation to Paget's disease. 5
21195346 2011
21
Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone. 5
20499339 2010
22
Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. 57
20436471 2010
23
The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts. 5
19589897 2009
24
Sequestosome 1 mutations in Paget's disease of bone in Australia: prevalence, genotype/phenotype correlation, and a novel non-UBA domain mutation (P364S) associated with increased NF-kappaB signaling without loss of ubiquitin binding. 5
19257822 2009
25
A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment. 5
18765443 2008
26
Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's Disease of Bone. 5
18543015 2008
27
Pathogenesis and management of Paget's disease of bone. 57
18620951 2008
28
Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone. 5
17229007 2006
29
A novel mutation (K378X) in the sequestosome 1 gene associated with increased NF-kappaB signaling and Paget's disease of bone with a severe phenotype. 5
16813535 2006
30
Loss of ubiquitin-binding associated with Paget's disease of bone p62 (SQSTM1) mutations. 5
15765181 2005
31
Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent. 5
15647816 2005
32
Structural and functional studies of mutations affecting the UBA domain of SQSTM1 (p62) which cause Paget's disease of bone. 5
15493999 2004
33
Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences. 5
15176995 2004
34
Linkage of Paget disease of bone to a novel region on human chromosome 18q23. 57
11742440 2002
35
Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35. 57
11555792 2001
36
The genetics of Paget's disease of the bone. 57
11231972 2001
37
Familial Paget's disease of bone: nonlinkage to the PDB1 and PDB2 loci on chromosomes 6p and 18q in a large pedigree. 57
11149487 2001
38
Heterogeneity in Paget disease of the bone. 57
10861657 2000
39
Paget's disease of bone: diagnosis and treatment update. 57
11123042 2000
40
Risedronate, a highly effective oral agent in the treatment of patients with severe Paget's disease. 57
9626117 1998
41
Paget's disease of bone: evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity. 57
9626621 1998
42
Genetic linkage of Paget disease of the bone to chromosome 18q. 57
9345096 1997
43
Clinical features and pharmacologic treatment of Paget's disease. 57
7656897 1995
44
Diagnostic procedures for Paget's disease. Radiologic, pathologic, and laboratory testing. 57
7656898 1995
45
Frequency and characteristics of familial aggregation of Paget's disease of bone. 57
7610939 1995
46
Epidemiological aspects of Paget's disease: family history and relationship to other medical conditions. 57
8009230 1994
47
A family study of Paget's disease of bone. 57
6619722 1983
48
Ultrastructural features of the osteoclasts from Paget's disease of bone in relation to a viral aetiology. 57
7096600 1982
49
Measles antibody in Paget's disease. 57
6112310 1981
50
Paget's disease of bone: the Lancashire focus. 57
7388425 1980

Variations for Paget Disease of Bone 3

ClinVar genetic disease variations for Paget Disease of Bone 3:

5 (show top 50) (show all 90)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SQSTM1 NM_003900.5(SQSTM1):c.1224dup (p.Glu409Ter) DUP Pathogenic
8109 rs796051869 GRCh37: 5:179263493-179263494
GRCh38: 5:179836493-179836494
2 SQSTM1 NM_003900.5(SQSTM1):c.1165+1G>A SNV Pathogenic
8110 rs796051870 GRCh37: 5:179260783-179260783
GRCh38: 5:179833783-179833783
3 SQSTM1 NM_003900.5(SQSTM1):c.1132A>T (p.Lys378Ter) SNV Pathogenic
202210 rs796052213 GRCh37: 5:179260749-179260749
GRCh38: 5:179833749-179833749
4 SQSTM1 NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) SNV Pathogenic
Likely Pathogenic
8108 rs104893941 GRCh37: 5:179263445-179263445
GRCh38: 5:179836445-179836445
5 SQSTM1 NM_003900.5(SQSTM1):c.924G>A (p.Ala308=) SNV Uncertain Significance
259190 rs139482113 GRCh37: 5:179260201-179260201
GRCh38: 5:179833201-179833201
6 SQSTM1 NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val) SNV Uncertain Significance
253029 rs200396166 GRCh37: 5:179248034-179248034
GRCh38: 5:179821034-179821034
7 SQSTM1 NM_003900.5(SQSTM1):c.372C>T (p.Pro124=) SNV Uncertain Significance
542162 rs11548640 GRCh37: 5:179250928-179250928
GRCh38: 5:179823928-179823928
8 SQSTM1 NM_003900.5(SQSTM1):c.996A>G (p.Ser332=) SNV Uncertain Significance
448531 rs141436407 GRCh37: 5:179260613-179260613
GRCh38: 5:179833613-179833613
9 SQSTM1 NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro) SNV Uncertain Significance
448529 rs143956614 GRCh37: 5:179260725-179260725
GRCh38: 5:179833725-179833725
10 SQSTM1 NM_003900.5(SQSTM1):c.615C>T (p.Asn205=) SNV Uncertain Significance
903992 rs771036207 GRCh37: 5:179251265-179251265
GRCh38: 5:179824265-179824265
11 SQSTM1 NM_003900.5(SQSTM1):c.513C>G (p.Pro171=) SNV Uncertain Significance
706234 rs199931327 GRCh37: 5:179251069-179251069
GRCh38: 5:179824069-179824069
12 SQSTM1 NM_003900.5(SQSTM1):c.462C>T (p.Cys154=) SNV Uncertain Significance
903991 rs775988188 GRCh37: 5:179251018-179251018
GRCh38: 5:179824018-179824018
13 SQSTM1 NM_003900.5(SQSTM1):c.687G>A (p.Ser229=) SNV Uncertain Significance
353161 rs140341924 GRCh37: 5:179252159-179252159
GRCh38: 5:179825159-179825159
14 SQSTM1 NM_003900.5(SQSTM1):c.959G>A (p.Gly320Glu) SNV Uncertain Significance
353166 rs747589104 GRCh37: 5:179260236-179260236
GRCh38: 5:179833236-179833236
15 SQSTM1 NM_003900.5(SQSTM1):c.811G>A (p.Val271Ile) SNV Uncertain Significance
353162 rs376283809 GRCh37: 5:179260088-179260088
GRCh38: 5:179833088-179833088
16 SQSTM1 NM_003900.5(SQSTM1):c.986A>G (p.Asp329Gly) SNV Uncertain Significance
650222 rs148294622 GRCh37: 5:179260603-179260603
GRCh38: 5:179833603-179833603
17 SQSTM1 NM_003900.5(SQSTM1):c.1166-5G>A SNV Uncertain Significance
578482 rs765613974 GRCh37: 5:179263431-179263431
GRCh38: 5:179836431-179836431
18 SQSTM1 NM_003900.5(SQSTM1):c.1277C>T (p.Ala426Val) SNV Uncertain Significance
844068 rs201239306 GRCh37: 5:179263547-179263547
GRCh38: 5:179836547-179836547
19 MRNIP, SQSTM1 NM_003900.5(SQSTM1):c.*987G>A SNV Uncertain Significance
353179 rs199727564 GRCh37: 5:179264580-179264580
GRCh38: 5:179837580-179837580
20 SQSTM1 NM_003900.5(SQSTM1):c.*39C>G SNV Uncertain Significance
904053 rs376209849 GRCh37: 5:179263632-179263632
GRCh38: 5:179836632-179836632
21 SQSTM1 NM_003900.5(SQSTM1):c.612A>G (p.Gly204=) SNV Uncertain Significance
353160 rs878982215 GRCh37: 5:179251262-179251262
GRCh38: 5:179824262-179824262
22 SQSTM1 NM_003900.5(SQSTM1):c.912G>A (p.Thr304=) SNV Uncertain Significance
353164 rs370970067 GRCh37: 5:179260189-179260189
GRCh38: 5:179833189-179833189
23 SQSTM1 NM_003900.5(SQSTM1):c.165C>A (p.Phe55Leu) SNV Uncertain Significance
353155 rs886060501 GRCh37: 5:179248101-179248101
GRCh38: 5:179821101-179821101
24 MRNIP, SQSTM1 NM_003900.5(SQSTM1):c.*1480C>T SNV Uncertain Significance
353188 rs886060510 GRCh37: 5:179265073-179265073
GRCh38: 5:179838073-179838073
25 SQSTM1 NM_003900.5(SQSTM1):c.253A>G (p.Met85Val) SNV Uncertain Significance
353158 rs886060502 GRCh37: 5:179250005-179250005
GRCh38: 5:179823005-179823005
26 LOC112997583, SQSTM1 NM_003900.5(SQSTM1):c.*243C>G SNV Uncertain Significance
353171 rs886060504 GRCh37: 5:179263836-179263836
GRCh38: 5:179836836-179836836
27 MRNIP, SQSTM1 NM_003900.5(SQSTM1):c.*1205T>C SNV Uncertain Significance
353183 rs778576827 GRCh37: 5:179264798-179264798
GRCh38: 5:179837798-179837798
28 SQSTM1 NM_003900.5(SQSTM1):c.181G>A (p.Gly61Ser) SNV Uncertain Significance
353156 rs749801323 GRCh37: 5:179248117-179248117
GRCh38: 5:179821117-179821117
29 SQSTM1 NM_003900.5(SQSTM1):c.-17C>T SNV Uncertain Significance
353153 rs761120269 GRCh37: 5:179247920-179247920
GRCh38: 5:179820920-179820920
30 SQSTM1 NM_003900.5(SQSTM1):c.316C>T (p.Arg106Trp) SNV Uncertain Significance
353159 rs886060503 GRCh37: 5:179250872-179250872
GRCh38: 5:179823872-179823872
31 MRNIP, SQSTM1 NM_003900.5(SQSTM1):c.*837G>A SNV Uncertain Significance
353178 rs148611524 GRCh37: 5:179264430-179264430
GRCh38: 5:179837430-179837430
32 LOC112997583, SQSTM1 NM_003900.5(SQSTM1):c.*259G>A SNV Uncertain Significance
353172 rs886060505 GRCh37: 5:179263852-179263852
GRCh38: 5:179836852-179836852
33 LOC112997583, SQSTM1 NM_003900.5(SQSTM1):c.*288C>T SNV Uncertain Significance
353175 rs886060506 GRCh37: 5:179263881-179263881
GRCh38: 5:179836881-179836881
34 SQSTM1 NM_003900.5(SQSTM1):c.*82C>T SNV Uncertain Significance
904055 rs11548622 GRCh37: 5:179263675-179263675
GRCh38: 5:179836675-179836675
35 MRNIP, SQSTM1 NM_003900.5(SQSTM1):c.*1353C>T SNV Uncertain Significance
904121 rs1436678583 GRCh37: 5:179264946-179264946
GRCh38: 5:179837946-179837946
36 MRNIP, SQSTM1 NM_003900.5(SQSTM1):c.*1394C>T SNV Uncertain Significance
904122 rs182968597 GRCh37: 5:179264987-179264987
GRCh38: 5:179837987-179837987
37 SQSTM1 NM_003900.5(SQSTM1):c.-26C>T SNV Uncertain Significance
905804 rs748135610 GRCh37: 5:179247911-179247911
GRCh38: 5:179820911-179820911
38 SQSTM1 NM_003900.5(SQSTM1):c.-18G>A SNV Uncertain Significance
905805 rs370874635 GRCh37: 5:179247919-179247919
GRCh38: 5:179820919-179820919
39 SQSTM1 NM_003900.5(SQSTM1):c.*624T>G SNV Uncertain Significance
906445 rs11548619 GRCh37: 5:179264217-179264217
GRCh38: 5:179837217-179837217
40 MRNIP, SQSTM1 NM_003900.5(SQSTM1):c.*710G>C SNV Uncertain Significance
906446 rs149508576 GRCh37: 5:179264303-179264303
GRCh38: 5:179837303-179837303
41 MRNIP, SQSTM1 NM_003900.5(SQSTM1):c.*722T>C SNV Uncertain Significance
906447 rs1758623010 GRCh37: 5:179264315-179264315
GRCh38: 5:179837315-179837315
42 MRNIP, SQSTM1 NM_003900.5(SQSTM1):c.*1235T>C SNV Uncertain Significance
353184 rs886060508 GRCh37: 5:179264828-179264828
GRCh38: 5:179837828-179837828
43 MRNIP, SQSTM1 NM_003900.5(SQSTM1):c.*1336C>T SNV Uncertain Significance
353187 rs199862884 GRCh37: 5:179264929-179264929
GRCh38: 5:179837929-179837929
44 SQSTM1 NM_003900.5(SQSTM1):c.*60C>T SNV Uncertain Significance
353167 rs369609665 GRCh37: 5:179263653-179263653
GRCh38: 5:179836653-179836653
45 SQSTM1 NM_003900.5(SQSTM1):c.84C>A (p.Ser28Arg) SNV Uncertain Significance
353154 rs759823891 GRCh37: 5:179248020-179248020
GRCh38: 5:179821020-179821020
46 LOC112997583, SQSTM1 NM_003900.5(SQSTM1):c.*260C>T SNV Uncertain Significance
353173 rs529602681 GRCh37: 5:179263853-179263853
GRCh38: 5:179836853-179836853
47 MRNIP, SQSTM1 NM_003900.5(SQSTM1):c.*1141G>A SNV Uncertain Significance
907441 rs143664576 GRCh37: 5:179264734-179264734
GRCh38: 5:179837734-179837734
48 MRNIP, SQSTM1 NM_003900.5(SQSTM1):c.*1273C>T SNV Uncertain Significance
907442 rs1443080077 GRCh37: 5:179264866-179264866
GRCh38: 5:179837866-179837866
49 SQSTM1 NM_003900.5(SQSTM1):c.1054G>T (p.Glu352Ter) SNV Uncertain Significance
1319146 GRCh37: 5:179260671-179260671
GRCh38: 5:179833671-179833671
50 SQSTM1 NM_003900.5(SQSTM1):c.962G>A (p.Arg321His) SNV Uncertain Significance
660485 rs752889531 GRCh37: 5:179260239-179260239
GRCh38: 5:179833239-179833239

UniProtKB/Swiss-Prot genetic disease variations for Paget Disease of Bone 3:

73
# Symbol AA change Variation ID SNP ID
1 SQSTM1 p.Pro387Leu VAR_023592 rs776749939
2 SQSTM1 p.Pro392Leu VAR_023593 rs104893941
3 SQSTM1 p.Ser399Pro VAR_023594 rs1561609625
4 SQSTM1 p.Met404Thr VAR_023595 rs1247551175
5 SQSTM1 p.Met404Val VAR_023596 rs771966860
6 SQSTM1 p.Gly411Ser VAR_023597 rs143511494
7 SQSTM1 p.Gly425Arg VAR_023598 rs757212984

Expression for Paget Disease of Bone 3

Search GEO for disease gene expression data for Paget Disease of Bone 3.

Pathways for Paget Disease of Bone 3

GO Terms for Paget Disease of Bone 3

Sources for Paget Disease of Bone 3

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
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35 IUPHAR
36 LifeMap
38 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
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56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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