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PDB3
MCID: PGT007
MIFTS: 38

Paget Disease of Bone 3 (PDB3)

Categories: Bone diseases, Cancer diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Paget Disease of Bone 3

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MalaCards integrated aliases for Paget Disease of Bone 3:

Name: Paget Disease of Bone 3 57 72 29 6
Osteitis Deformans 72 70
Pdb3 57 72
Paget Disease of Bone, Type 3 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset usually after age 40
incomplete age-dependent penetrance
axial skeleton most commonly affected


HPO:

31
paget disease of bone 3:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases
Anatomical: Bone diseases Neuronal diseases Ear diseases Cardiovascular diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 167250
OMIM Phenotypic Series 57 PS167250
MeSH 44 D010001
UMLS 70 C0029401
Sources

Summaries for Paget Disease of Bone 3

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UniProtKB/Swiss-Prot : 72 Paget disease of bone 3: 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 Alendronate have been mentioned in the context of this disorder. Affiliated tissues include bone, 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 05-Apr-2021)

Sources

Related Diseases for Paget Disease of Bone 3

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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 59)
# Related Disease Score Top Affiliating Genes
1 paget's disease of bone 11.8
2 mammary paget's disease 11.4
3 bone inflammation disease 11.2
4 paget disease of bone 5, juvenile-onset 10.6
5 sarcoma 10.5
6 spindle cell sarcoma 10.5
7 osteogenic sarcoma 10.4
8 bone disease 10.4
9 bone resorption disease 10.3
10 osteoporosis 10.2
11 angioid streaks 10.2
12 bone mineral density quantitative trait locus 8 10.2
13 bone mineral density quantitative trait locus 15 10.2
14 3-methylglutaconic aciduria, type iii 10.2
15 osteomyelitis 10.2
16 paraplegia 10.2
17 progressive familial heart block, type ia 10.0
18 glioma susceptibility 1 10.0
19 hemifacial spasm, familial 10.0
20 protrusio acetabuli 10.0
21 rheumatoid arthritis 10.0
22 pseudoxanthoma elasticum 10.0
23 kearns-sayre syndrome 10.0
24 yemenite deaf-blind hypopigmentation syndrome 10.0
25 aortic valve disease 2 10.0
26 atrioventricular block 10.0
27 fibrous dysplasia 10.0
28 bone sarcoma 10.0
29 neuroretinitis 10.0
30 cholelithiasis 10.0
31 osteomalacia 10.0
32 rickets 10.0
33 hypoparathyroidism 10.0
34 otosclerosis 10.0
35 iritis 10.0
36 optic nerve disease 10.0
37 enthesopathy 10.0
38 spondylosis 10.0
39 arteriosclerosis 10.0
40 acromegaly 10.0
41 malignant giant cell tumor 10.0
42 dermatitis 10.0
43 auditory system disease 10.0
44 malignant astrocytoma 10.0
45 osteitis fibrosa 10.0
46 retinitis 10.0
47 sarcomatosis 10.0
48 osteoarthritis 10.0
49 measles 10.0
50 neuropathy 10.0

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



Diseases related to Paget Disease of Bone 3
Sources

Symptoms & Phenotypes for Paget Disease of Bone 3

About this section

Human phenotypes related to Paget Disease of Bone 3:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 occasional (7.5%) HP:0000365
2 osteosarcoma 31 HP:0002669
3 bone pain 31 HP:0002653
4 osteolysis 31 HP:0002797
5 fractures of the long bones 31 HP:0003084
6 patchy osteosclerosis 31 HP:0005686
7 elevated alkaline phosphatase 31 HP:0003155

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

UMLS symptoms related to Paget Disease of Bone 3:


back pain; sciatica; muscle cramp
Sources

Drugs & Therapeutics for Paget Disease of Bone 3

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zoledronic Acid Approved Phase 4 118072-93-8 68740
2
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
3
Pamidronate Approved Phase 4 40391-99-9 4674
4
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
5 Diphosphonates Phase 4
6 Calcium, Dietary Phase 4
7 Nutrients Phase 4
8 Micronutrients Phase 4
9 Trace Elements Phase 4
10 Vitamins Phase 4
11 Calciferol Phase 4
12 Hormones Phase 4
13 Pharmaceutical Solutions Phase 4
14
Calcium Nutraceutical Phase 4 7440-70-2 271
15
Etidronic acid Approved Phase 3 7414-83-7, 2809-21-4 3305
16
Risedronate Approved, Investigational Phase 3 105462-24-6 5245
17 calcium channel blockers Phase 3
18 Fluorides

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4 Alendronate;Pamidronate
2 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
3 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
4 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)
5 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
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 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
8 Preliminary Study for Identification of Calcium-Binding Proteins in the Serum in Various Metabolic Bone Disorders Unknown status NCT00403598
9 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
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 Genetic Study of Families Affected by Paget's Disease of Bone Completed NCT00747994
12 Investigation of Pathophysiology of Angiogenesis and Osteogenesis in Paget's Disease of Bone Recruiting NCT02802384
13 Characterization of Familial Myopathy and Paget Disease of Bone Recruiting NCT01353430

Search NIH Clinical Center for Paget Disease of Bone 3

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Calcitonin
salmon calcitonin
Sources

Genetic Tests for Paget Disease of Bone 3

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Genetic tests related to Paget Disease of Bone 3:

# Genetic test Affiliating Genes
1 Paget Disease of Bone 3 29 SQSTM1
Sources

Anatomical Context for Paget Disease of Bone 3

About this section

MalaCards organs/tissues related to Paget Disease of Bone 3:

40
Bone
Sources

Publications for Paget Disease of Bone 3

About this section

Articles related to Paget Disease of Bone 3:

(show top 50) (show all 62)
# Title Authors PMID Year
1
Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. 57 6 61
12374763 2002
2
Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. 6 57 61
11992264 2002
3
Paget disease of bone: mapping of two loci at 5q35-qter and 5q31. 57 61
11473345 2001
4
The Implications of the Sequestosome 1 Mutation P392L in Patients with Paget's Disease in a United States Cohort. 6
26713335 2016
5
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. 6
26208961 2015
6
Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone. 6
25241215 2015
7
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. 6
24899140 2014
8
Genetics of Paget's disease of bone. 57
24988994 2014
9
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
10
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. 6
24042580 2013
11
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology. 6
23417734 2013
12
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. 6
22084127 2011
13
Mutant p62P392L stimulation of osteoclast differentiation in Paget's disease of bone. 6
21878516 2011
14
A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice. 6
21515589 2011
15
Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 57
21623375 2011
16
Contributions of the measles virus nucleocapsid gene and the SQSTM1/p62(P392L) mutation to Paget's disease. 6
21195346 2011
17
Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone. 6
20499339 2010
18
Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. 57
20436471 2010
19
The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts. 6
19589897 2009
20
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. 6
19257822 2009
21
A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment. 6
18765443 2008
22
Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's Disease of Bone. 6
18543015 2008
23
Pathogenesis and management of Paget's disease of bone. 57
18620951 2008
24
Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone. 6
17229007 2006
25
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. 6
16813535 2006
26
Loss of ubiquitin-binding associated with Paget's disease of bone p62 (SQSTM1) mutations. 6
15765181 2005
27
Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent. 6
15647816 2005
28
Structural and functional studies of mutations affecting the UBA domain of SQSTM1 (p62) which cause Paget's disease of bone. 6
15493999 2004
29
Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences. 6
15176995 2004
30
Linkage of Paget disease of bone to a novel region on human chromosome 18q23. 57
11742440 2002
31
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
32
The genetics of Paget's disease of the bone. 57
11231972 2001
33
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
34
Heterogeneity in Paget disease of the bone. 57
10861657 2000
35
Paget's disease of bone: diagnosis and treatment update. 57
11123042 2000
36
Paget's disease of bone: evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity. 57
9626621 1998
37
Risedronate, a highly effective oral agent in the treatment of patients with severe Paget's disease. 57
9626117 1998
38
Genetic linkage of Paget disease of the bone to chromosome 18q. 57
9345096 1997
39
Clinical features and pharmacologic treatment of Paget's disease. 57
7656897 1995
40
Diagnostic procedures for Paget's disease. Radiologic, pathologic, and laboratory testing. 57
7656898 1995
41
Frequency and characteristics of familial aggregation of Paget's disease of bone. 57
7610939 1995
42
Epidemiological aspects of Paget's disease: family history and relationship to other medical conditions. 57
8009230 1994
43
A family study of Paget's disease of bone. 57
6619722 1983
44
Ultrastructural features of the osteoclasts from Paget's disease of bone in relation to a viral aetiology. 57
7096600 1982
45
Measles antibody in Paget's disease. 57
6112310 1981
46
Paget's disease of bone: the Lancashire focus. 57
7388425 1980
47
Giant cell tumor in Paget's disease of bone: familial and geographic clustering. 57
476580 1979
48
Radiological prevalence of Paget's disease of bone in British migrants to Australia. 57
656864 1978
49
Evidence for linkage between HLA and Paget's disease. 57
146288 1977
50
Nuclear inclusions in Paget's disease of bone. 57
959849 1976
Sources

Variations for Paget Disease of Bone 3

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ClinVar genetic disease variations for Paget Disease of Bone 3:

6 (show top 50) (show all 89)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SQSTM1 NM_003900.5(SQSTM1):c.1224dup (p.Glu409Ter) Duplication 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.1175C>T (p.Pro392Leu) SNV Pathogenic 8108 rs104893941 GRCh37: 5:179263445-179263445
GRCh38: 5:179836445-179836445
4 SQSTM1 NM_003900.5(SQSTM1):c.1132A>T (p.Lys378Ter) SNV Pathogenic 202210 rs796052213 GRCh37: 5:179260749-179260749
GRCh38: 5:179833749-179833749
5 SQSTM1 NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) SNV Likely pathogenic 8108 rs104893941 GRCh37: 5:179263445-179263445
GRCh38: 5:179836445-179836445
6 SQSTM1 NM_003900.5(SQSTM1):c.1277C>T (p.Ala426Val) SNV Uncertain significance 844068 GRCh37: 5:179263547-179263547
GRCh38: 5:179836547-179836547
7 SQSTM1 NM_003900.5(SQSTM1):c.811G>A (p.Val271Ile) SNV Uncertain significance 353162 rs376283809 GRCh37: 5:179260088-179260088
GRCh38: 5:179833088-179833088
8 SQSTM1 NM_003900.5(SQSTM1):c.429C>A (p.Ser143Arg) SNV Uncertain significance 907325 GRCh37: 5:179250985-179250985
GRCh38: 5:179823985-179823985
9 SQSTM1 NM_003900.5(SQSTM1):c.962G>A (p.Arg321His) SNV Uncertain significance 660485 rs752889531 GRCh37: 5:179260239-179260239
GRCh38: 5:179833239-179833239
10 SQSTM1 NM_003900.5(SQSTM1):c.1316C>T (p.Pro439Leu) SNV Uncertain significance 851619 GRCh37: 5:179263586-179263586
GRCh38: 5:179836586-179836586
11 SQSTM1 NM_003900.5(SQSTM1):c.50C>T (p.Ala17Val) SNV Uncertain significance 906314 GRCh37: 5:179247986-179247986
GRCh38: 5:179820986-179820986
12 SQSTM1 NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile) SNV Uncertain significance 571746 rs145056421 GRCh37: 5:179251013-179251013
GRCh38: 5:179824013-179824013
13 SQSTM1 NM_003900.5(SQSTM1):c.372C>T (p.Pro124=) SNV Uncertain significance 542162 rs11548640 GRCh37: 5:179250928-179250928
GRCh38: 5:179823928-179823928
14 SQSTM1 NM_003900.5(SQSTM1):c.986A>G (p.Asp329Gly) SNV Uncertain significance 650222 rs148294622 GRCh37: 5:179260603-179260603
GRCh38: 5:179833603-179833603
15 SQSTM1 NM_003900.5(SQSTM1):c.996A>G (p.Ser332=) SNV Uncertain significance 448531 rs141436407 GRCh37: 5:179260613-179260613
GRCh38: 5:179833613-179833613
16 SQSTM1 NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro) SNV Uncertain significance 448529 rs143956614 GRCh37: 5:179260725-179260725
GRCh38: 5:179833725-179833725
17 SQSTM1 NM_003900.5(SQSTM1):c.1166-5G>A SNV Uncertain significance 578482 rs765613974 GRCh37: 5:179263431-179263431
GRCh38: 5:179836431-179836431
18 MRNIP , SQSTM1 NM_003900.5(SQSTM1):c.*1141G>A SNV Uncertain significance 907441 GRCh37: 5:179264734-179264734
GRCh38: 5:179837734-179837734
19 MRNIP , SQSTM1 NM_003900.5(SQSTM1):c.*1273C>T SNV Uncertain significance 907442 GRCh37: 5:179264866-179264866
GRCh38: 5:179837866-179837866
20 SQSTM1 NM_003900.5(SQSTM1):c.513C>G (p.Pro171=) SNV Uncertain significance 706234 rs199931327 GRCh37: 5:179251069-179251069
GRCh38: 5:179824069-179824069
21 SQSTM1 NM_003900.5(SQSTM1):c.615C>T (p.Asn205=) SNV Uncertain significance 903992 GRCh37: 5:179251265-179251265
GRCh38: 5:179824265-179824265
22 SQSTM1 NM_003900.5(SQSTM1):c.649C>T (p.Arg217Cys) SNV Uncertain significance 644487 rs867275286 GRCh37: 5:179251299-179251299
GRCh38: 5:179824299-179824299
23 SQSTM1 NM_003900.5(SQSTM1):c.806C>T (p.Thr269Ile) SNV Uncertain significance 903993 GRCh37: 5:179260083-179260083
GRCh38: 5:179833083-179833083
24 SQSTM1 NM_003900.5(SQSTM1):c.*39C>G SNV Uncertain significance 904053 GRCh37: 5:179263632-179263632
GRCh38: 5:179836632-179836632
25 SQSTM1 NM_003900.5(SQSTM1):c.-7G>C SNV Uncertain significance 906313 GRCh37: 5:179247930-179247930
GRCh38: 5:179820930-179820930
26 SQSTM1 NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val) SNV Uncertain significance 253029 rs200396166 GRCh37: 5:179248034-179248034
GRCh38: 5:179821034-179821034
27 SQSTM1 NM_003900.5(SQSTM1):c.205+9G>A SNV Uncertain significance 906315 GRCh37: 5:179248150-179248150
GRCh38: 5:179821150-179821150
28 SQSTM1 NM_003900.5(SQSTM1):c.*624T>G SNV Uncertain significance 906445 GRCh37: 5:179264217-179264217
GRCh38: 5:179837217-179837217
29 MRNIP , SQSTM1 NM_003900.5(SQSTM1):c.*710G>C SNV Uncertain significance 906446 GRCh37: 5:179264303-179264303
GRCh38: 5:179837303-179837303
30 MRNIP , SQSTM1 NM_003900.5(SQSTM1):c.*722T>C SNV Uncertain significance 906447 GRCh37: 5:179264315-179264315
GRCh38: 5:179837315-179837315
31 SQSTM1 NM_003900.5(SQSTM1):c.912G>A (p.Thr304=) SNV Uncertain significance 353164 rs370970067 GRCh37: 5:179260189-179260189
GRCh38: 5:179833189-179833189
32 MRNIP , SQSTM1 NM_003900.5(SQSTM1):c.*987G>A SNV Uncertain significance 353179 rs199727564 GRCh37: 5:179264580-179264580
GRCh38: 5:179837580-179837580
33 SQSTM1 NM_003900.5(SQSTM1):c.239A>G (p.Asp80Gly) SNV Uncertain significance 907323 GRCh37: 5:179249991-179249991
GRCh38: 5:179822991-179822991
34 SQSTM1 NM_003900.5(SQSTM1):c.165C>A (p.Phe55Leu) SNV Uncertain significance 353155 rs886060501 GRCh37: 5:179248101-179248101
GRCh38: 5:179821101-179821101
35 MRNIP , SQSTM1 NM_003900.5(SQSTM1):c.*1480C>T SNV Uncertain significance 353188 rs886060510 GRCh37: 5:179265073-179265073
GRCh38: 5:179838073-179838073
36 SQSTM1 NM_003900.5(SQSTM1):c.253A>G (p.Met85Val) SNV Uncertain significance 353158 rs886060502 GRCh37: 5:179250005-179250005
GRCh38: 5:179823005-179823005
37 MRNIP , SQSTM1 NM_003900.5(SQSTM1):c.*1205T>C SNV Uncertain significance 353183 rs778576827 GRCh37: 5:179264798-179264798
GRCh38: 5:179837798-179837798
38 SQSTM1 NM_003900.5(SQSTM1):c.959G>A (p.Gly320Glu) SNV Uncertain significance 353166 rs747589104 GRCh37: 5:179260236-179260236
GRCh38: 5:179833236-179833236
39 SQSTM1 NM_003900.5(SQSTM1):c.181G>A (p.Gly61Ser) SNV Uncertain significance 353156 rs749801323 GRCh37: 5:179248117-179248117
GRCh38: 5:179821117-179821117
40 SQSTM1 NM_003900.5(SQSTM1):c.-17C>T SNV Uncertain significance 353153 rs761120269 GRCh37: 5:179247920-179247920
GRCh38: 5:179820920-179820920
41 SQSTM1 NM_003900.5(SQSTM1):c.316C>T (p.Arg106Trp) SNV Uncertain significance 353159 rs886060503 GRCh37: 5:179250872-179250872
GRCh38: 5:179823872-179823872
42 MRNIP , SQSTM1 NM_003900.5(SQSTM1):c.*837G>A SNV Uncertain significance 353178 rs148611524 GRCh37: 5:179264430-179264430
GRCh38: 5:179837430-179837430
43 LOC112997583 , SQSTM1 NM_003900.5(SQSTM1):c.*259G>A SNV Uncertain significance 353172 rs886060505 GRCh37: 5:179263852-179263852
GRCh38: 5:179836852-179836852
44 LOC112997583 , SQSTM1 NM_003900.5(SQSTM1):c.*288C>T SNV Uncertain significance 353175 rs886060506 GRCh37: 5:179263881-179263881
GRCh38: 5:179836881-179836881
45 SQSTM1 NM_003900.5(SQSTM1):c.687G>A (p.Ser229=) SNV Uncertain significance 353161 rs140341924 GRCh37: 5:179252159-179252159
GRCh38: 5:179825159-179825159
46 LOC112997583 , SQSTM1 NM_003900.5(SQSTM1):c.*243C>G SNV Uncertain significance 353171 rs886060504 GRCh37: 5:179263836-179263836
GRCh38: 5:179836836-179836836
47 MRNIP , SQSTM1 NM_003900.5(SQSTM1):c.*1235T>C SNV Uncertain significance 353184 rs886060508 GRCh37: 5:179264828-179264828
GRCh38: 5:179837828-179837828
48 MRNIP , SQSTM1 NM_003900.5(SQSTM1):c.*1336C>T SNV Uncertain significance 353187 rs199862884 GRCh37: 5:179264929-179264929
GRCh38: 5:179837929-179837929
49 SQSTM1 NM_003900.5(SQSTM1):c.*60C>T SNV Uncertain significance 353167 rs369609665 GRCh37: 5:179263653-179263653
GRCh38: 5:179836653-179836653
50 SQSTM1 NM_003900.5(SQSTM1):c.84C>A (p.Ser28Arg) SNV Uncertain significance 353154 rs759823891 GRCh37: 5:179248020-179248020
GRCh38: 5:179821020-179821020

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

72
# 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 rs156160962
4 SQSTM1 p.Met404Thr VAR_023595 rs124755117
5 SQSTM1 p.Met404Val VAR_023596 rs771966860
6 SQSTM1 p.Gly411Ser VAR_023597 rs143511494
7 SQSTM1 p.Gly425Arg VAR_023598 rs757212984

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Expression for Paget Disease of Bone 3

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

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GO Terms for Paget Disease of Bone 3

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Sources for Paget Disease of Bone 3

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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