Paget Disease of Bone 2, Early-Onset disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

PDB2 MCID: PGT009 MIFTS: 35	Paget Disease of Bone 2, Early-Onset (PDB2) Categories: Bone diseases, Cancer diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Paget Disease of Bone 2, Early-Onset

MalaCards integrated aliases for Paget Disease of Bone 2, Early-Onset:

Name: Paget Disease of Bone 2, Early-Onset ⁵⁷ ⁷² ²⁹ ⁶

Pdb2 ⁵⁷ ⁷²

Paget Disease of Bone, Type 2, Early-Onset ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal dominant

Miscellaneous:
variable severity
progressive disorder
onset in teens or early twenties

HPO:

³¹

paget disease of bone 2, early-onset:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course variable expressivity progressive

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 602080

OMIM Phenotypic Series ⁵⁷ PS167250

MeSH ⁴⁴ D010001

MedGen ⁴¹ C0029401 C4085251

SNOMED-CT via HPO ⁶⁸ 12584003 1845001 194417009 more

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Summaries for Paget Disease of Bone 2, Early-Onset

UniProtKB/Swiss-Prot : ⁷² Paget disease of bone 2, early-onset: A form of Paget disease, 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 2, Early-Onset, also known as pdb2, is related to mammary paget's disease and paget's disease of bone. An important gene associated with Paget Disease of Bone 2, Early-Onset is TNFRSF11A (TNF Receptor Superfamily Member 11a), and among its related pathways/superpathways are RANK Signaling in Osteoclasts and Osteoclast differentiation. Affiliated tissues include bone and brain, and related phenotypes are bilateral conductive hearing impairment and bowing of the long bones

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). For a discussion of genetic heterogeneity of Paget disease of bone, see 167250. (602080) (Updated 05-Apr-2021)

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Related Diseases for Paget Disease of Bone 2, Early-Onset

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 2, Early-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	mammary paget's disease	29.3	TNFRSF11A SQSTM1
2	paget's disease of bone	29.1	TNFRSF11A SQSTM1
3	paget disease of bone 3	9.9
4	osteogenic sarcoma	9.9
5	periostitis	9.7	TNFRSF11A SQSTM1
6	familial expansile osteolysis	9.6	TNFRSF11A SQSTM1

Graphical network of the top 20 diseases related to Paget Disease of Bone 2, Early-Onset:

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Symptoms & Phenotypes for Paget Disease of Bone 2, Early-Onset

Human phenotypes related to Paget Disease of Bone 2, Early-Onset:

³¹ (show all 16)

#	Description	HPO Frequency	HPO Source Accession
1	bilateral conductive hearing impairment ³¹	very rare (1%)	HP:0008513
2	bowing of the long bones ³¹		HP:0006487
3	cranial nerve paralysis ³¹		HP:0006824
4	abnormality of pelvic girdle bone morphology ³¹		HP:0002644
5	bone pain ³¹		HP:0002653
6	osteolysis ³¹		HP:0002797
7	brain stem compression ³¹		HP:0002512
8	fractures of the long bones ³¹		HP:0003084
9	increased susceptibility to fractures ³¹		HP:0002659
10	tetraparesis ³¹		HP:0002273
11	vertebral compression fractures ³¹		HP:0002953
12	premature loss of teeth ³¹		HP:0006480
13	paraparesis ³¹		HP:0002385
14	elevated alkaline phosphatase ³¹		HP:0003155
15	hydroxyprolinuria ³¹		HP:0003080
16	long-tract signs ³¹		HP:0002423

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Skeletal:
bone pain
mixed regions of osteosclerosis and osteolysis
abnormal uptake of radio-labelled bisphosphates in affected sites on bone scan
deformity or enlargement of bones

Head And Neck Ears:
hearing loss, progressive

Head And Neck Head:
swelling and deformity of the mandible and maxilla

Skeletal Limbs:
deformities and bowing of the long bones

Laboratory Abnormalities:
elevated alkaline phosphatase

Head And Neck Teeth:
premature tooth loss

Skeletal Skull:
swelling and deformity of the mandible and maxilla

Skeletal Hands:
swelling of the proximal and distal interphalangeal joints

Clinical features from OMIM®:

602080 (Updated 05-Apr-2021)

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Drugs & Therapeutics for Paget Disease of Bone 2, Early-Onset

Search Clinical Trials , NIH Clinical Center for Paget Disease of Bone 2, Early-Onset

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Genetic Tests for Paget Disease of Bone 2, Early-Onset

Genetic tests related to Paget Disease of Bone 2, Early-Onset:

#	Genetic test	Affiliating Genes
1	Paget Disease of Bone 2, Early-Onset ²⁹	TNFRSF11A

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Anatomical Context for Paget Disease of Bone 2, Early-Onset

MalaCards organs/tissues related to Paget Disease of Bone 2, Early-Onset:

⁴⁰

Bone, Brain

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Publications for Paget Disease of Bone 2, Early-Onset

Articles related to Paget Disease of Bone 2, Early-Onset:

(show all 38)

#	Title	Authors	PMID	Year
1	Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK. ⁶ ⁵⁷	Whyte MP...Mumm S	25063546	2014
2	Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis. ⁵⁷ ⁶	Whyte MP...Hughes AE	11771666	2002
3	Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. ⁶ ⁵⁷	Hughes AE...Anderson DM	10615125	2000
4	Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration. ⁶	Muto V...Tartaglia M	29959261	2018
5	The evolving genetic risk for sporadic ALS. ⁶	Gibson SB...Pulst SM	28642336	2017
6	Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy. ⁶	Haack TB...Klopstock T	27545679	2016
7	Targeted next-generation sequencing assay for detection of mutations in primary myopathies. ⁶	Evila A...Hackman P	26627873	2016
8	Evolution of Paget's disease of bone in adults inheriting SQSTM1 mutations. ⁶	Cundy T...Bolland M	25664955	2015
9	SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. ⁶	Bucelli RC...Weihl CC	26208961	2015
10	Genetics of Paget's disease of bone. ⁵⁷	Ralston SH...Albagha OM	24988994	2014
11	Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. ⁶	van der Zee J...Van Broeckhoven C	24899140	2014
12	Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology. ⁶	Teyssou E...Millecamps S	23417734	2013
13	Thirteen Chinese patients with sporadic Paget's disease of bone: clinical features, SQSTM1 mutation identification, and functional analysis. ⁶	Gu JM...Fu WZ	22491873	2012
14	Pathogenesis and management of Paget's disease of bone. ⁵⁷	Ralston SH...Reid IR	18620951	2008
15	Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations. ⁶	Collet C...Laplanche JL	17129171	2007
16	Loss of ubiquitin binding is a unifying mechanism by which mutations of SQSTM1 cause Paget's disease of bone. ⁶	Cavey JR...Layfield R	16691492	2006
17	Loss of ubiquitin-binding associated with Paget's disease of bone p62 (SQSTM1) mutations. ⁶	Cavey JR...Layfield R	15765181	2005
18	Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences. ⁶	Hocking LJ...Ralston SH	15176995	2004
19	Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB). ⁶	Falchetti A...Brandi ML	15125799	2004
20	Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations. ⁶	Eekhoff EW...Papapoulos SE	15146436	2004
21	Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene. ⁵⁷	Nakatsuka K...Ralston SH	12929927	2003
22	Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. ⁶	Hocking LJ...Ralston SH	12374763	2002
23	Paget's disease of bone: evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity. ⁵⁷	Haslam SI...Ralston SH	9626621	1998
24	Genetic linkage of Paget disease of the bone to chromosome 18q. ⁵⁷	Cody JD...Leach RJ	9345096	1997
25	Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK. ⁶¹	Iwamoto SJ...Whyte MP	31923705	2020
26	Isolation, characterization and growth kinetics of phenol hyper-tolerant bacteria from sewage-fed aquaculture system. ⁶¹	Nandi L...Manna SK	31790335	2020
27	Robust DNase activity of the ooplasm can act as a gametic transfection barrier in rainbow trout. ⁶¹	Barkhojasteh M...Eghbalsaied S	31574402	2020
28	Dysosteosclerosis is also caused by TNFRSF11A mutation. ⁶¹	Guo L...Ikegawa S	29568001	2018
29	Developing a puncture-free in ovo chicken transfection strategy based on bypassing albumen nucleases. ⁶¹	Amini HR...Eghbalsaied S	28215692	2017
30	Evidence of circulation of the novel border disease virus genotype 8 in chamois. ⁶¹	Caruso C...Acutis PL	27761745	2017
31	Constructing a Mouse Oct4 Promoter/EGFP Vector, as a Whole-Cellular Reporter to Monitor the Pluripotent State of Cells. ⁶¹	Ghorbani R...Esfahani MH	23626871	2013
32	Sporadic hyperphosphatasia syndrome featuring periostitis and accelerated skeletal turnover without receptor activator of nuclear factor-kappaB, osteoprotegerin, or sequestosome-1 gene defects. ⁶¹	Simsek S...Netelenbos JC	17284635	2007
33	Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling. ⁶¹	Whyte MP	16831914	2006
34	Heritable disorders of the RANKL/OPG/RANK signaling pathway. ⁶¹	Whyte MP...Mumm S	15615493	2004
35	Linkage of Paget disease of bone to a novel region on human chromosome 18q23. ⁶¹	Good DA...Shaw JT	11742440	2002
36	Paget disease of bone: mapping of two loci at 5q35-qter and 5q31. ⁶¹	Laurin N...Morissette J	11473345	2001
37	Familial Paget's disease of bone: nonlinkage to the PDB1 and PDB2 loci on chromosomes 6p and 18q in a large pedigree. ⁶¹	Good D...Shaw JT	11149487	2001
38	Citrate synthase activity in Escherichia coli harbouring hybrid plasmids containing the gltA gene. ⁶¹	Bloxham DP...Drabble WT	6355385	1983

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Genes for Paget Disease of Bone 2, Early-Onset

Genes related to Paget Disease of Bone 2, Early-Onset (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TNFRSF11A	TNF Receptor Superfamily Member 11a	Protein Coding	1070.34	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	10615125
2	SQSTM1	Sequestosome 1	Protein Coding	410.3	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	26208961 26627873 23417734 (more) 12374763 17129171

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Variations for Paget Disease of Bone 2, Early-Onset

ClinVar genetic disease variations for Paget Disease of Bone 2, Early-Onset:

⁶ (show top 50) (show all 261)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TNFRSF11A	NM_003839.4(TNFRSF11A):c.39_65dup (p.Leu14_Ala22dup)	Duplication	Pathogenic	6300	rs796051862	GRCh37: 18:59992619-59992620 GRCh38: 18:62325386-62325387
2	TNFRSF11A	NM_003839.4(TNFRSF11A):c.49_63dup (p.Leu17_Leu21dup)	Duplication	Pathogenic	208144	rs1555767678	GRCh37: 18:59992633-59992634 GRCh38: 18:62325400-62325401
3	SQSTM1	NM_003900.5(SQSTM1):c.1165+1G>A	SNV	Pathogenic	8110	rs796051870	GRCh37: 5:179260783-179260783 GRCh38: 5:179833783-179833783
4	TNFRSF11A	NM_003839.4(TNFRSF11A):c.45_62dup (p.Leu16_Leu21dup)	Duplication	Pathogenic	208143	rs886037749	GRCh37: 18:59992620-59992621 GRCh38: 18:62325387-62325388
5	SQSTM1	NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter)	SNV	Pathogenic	642133	rs1185406298	GRCh37: 5:179260612-179260612 GRCh38: 5:179833612-179833612
6	SQSTM1	NM_003900.5(SQSTM1):c.1185dup (p.Glu396Ter)	Duplication	Pathogenic	835699		GRCh37: 5:179263453-179263454 GRCh38: 5:179836453-179836454
7	SQSTM1	NM_003900.5(SQSTM1):c.1211T>C (p.Met404Thr)	SNV	Pathogenic	855037		GRCh37: 5:179263481-179263481 GRCh38: 5:179836481-179836481
8	SQSTM1	NM_003900.5(SQSTM1):c.810del (p.Val271fs)	Deletion	Pathogenic	967349		GRCh37: 5:179260083-179260083 GRCh38: 5:179833083-179833083
9	SQSTM1	NM_003900.5(SQSTM1):c.526_529del (p.Ser176fs)	Deletion	Pathogenic	503881	rs1331685476	GRCh37: 5:179251079-179251082 GRCh38: 5:179824079-179824082
10	SQSTM1	NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter)	SNV	Pathogenic	265782	rs886039782	GRCh37: 5:179250038-179250038 GRCh38: 5:179823038-179823038
11	SQSTM1	NM_003900.5(SQSTM1):c.571G>A (p.Gly191Arg)	SNV	Uncertain significance	639243	rs781478225	GRCh37: 5:179251221-179251221 GRCh38: 5:179824221-179824221
12	SQSTM1	NM_003900.5(SQSTM1):c.46G>A (p.Ala16Thr)	SNV	Uncertain significance	423540	rs773552098	GRCh37: 5:179247982-179247982 GRCh38: 5:179820982-179820982
13	TNFRSF11A	NM_003839.4(TNFRSF11A):c.*1301G>A	SNV	Uncertain significance	892547		GRCh37: 18:60053568-60053568 GRCh38: 18:62386335-62386335
14	SQSTM1	NM_003900.5(SQSTM1):c.857C>T (p.Pro286Leu)	SNV	Uncertain significance	948471		GRCh37: 5:179260134-179260134 GRCh38: 5:179833134-179833134
15	SQSTM1	NM_003900.5(SQSTM1):c.251C>T (p.Thr84Ile)	SNV	Uncertain significance	951976		GRCh37: 5:179250003-179250003 GRCh38: 5:179823003-179823003
16	SQSTM1	NM_003900.5(SQSTM1):c.85C>T (p.Pro29Ser)	SNV	Uncertain significance	963309		GRCh37: 5:179248021-179248021 GRCh38: 5:179821021-179821021
17	SQSTM1	NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu)	SNV	Uncertain significance	202211	rs776749939	GRCh37: 5:179260777-179260777 GRCh38: 5:179833777-179833777
18	SQSTM1	NM_003900.5(SQSTM1):c.728G>A (p.Ser243Asn)	SNV	Uncertain significance	1034452		GRCh37: 5:179252200-179252200 GRCh38: 5:179825200-179825200
19	SQSTM1	NM_003900.5(SQSTM1):c.224T>C (p.Val75Ala)	SNV	Uncertain significance	1035180		GRCh37: 5:179249976-179249976 GRCh38: 5:179822976-179822976
20	SQSTM1	NM_003900.5(SQSTM1):c.293A>G (p.Tyr98Cys)	SNV	Uncertain significance	1036874		GRCh37: 5:179250045-179250045 GRCh38: 5:179823045-179823045
21	SQSTM1	NM_003900.5(SQSTM1):c.462C>T (p.Cys154=)	SNV	Uncertain significance	903991		GRCh37: 5:179251018-179251018 GRCh38: 5:179824018-179824018
22	SQSTM1	NM_003900.5(SQSTM1):c.1037T>C (p.Val346Ala)	SNV	Uncertain significance	1041858		GRCh37: 5:179260654-179260654 GRCh38: 5:179833654-179833654
23	SQSTM1	NM_003900.5(SQSTM1):c.113C>A (p.Ala38Glu)	SNV	Uncertain significance	1041910		GRCh37: 5:179248049-179248049 GRCh38: 5:179821049-179821049
24	SQSTM1	NM_003900.5(SQSTM1):c.850T>A (p.Ser284Thr)	SNV	Uncertain significance	1044688		GRCh37: 5:179260127-179260127 GRCh38: 5:179833127-179833127
25	TNFRSF11A	NM_003839.4(TNFRSF11A):c.*2564A>G	SNV	Uncertain significance	891659		GRCh37: 18:60054831-60054831 GRCh38: 18:62387598-62387598
26	SQSTM1	NM_003900.5(SQSTM1):c.1178G>A (p.Arg393Gln)	SNV	Uncertain significance	475395	rs200551825	GRCh37: 5:179263448-179263448 GRCh38: 5:179836448-179836448
27	SQSTM1	NM_003900.5(SQSTM1):c.802C>G (p.Leu268Val)	SNV	Uncertain significance	542158	rs753685955	GRCh37: 5:179260079-179260079 GRCh38: 5:179833079-179833079
28	SQSTM1	NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile)	SNV	Uncertain significance	571746	rs145056421	GRCh37: 5:179251013-179251013 GRCh38: 5:179824013-179824013
29	SQSTM1	NM_003900.5(SQSTM1):c.711_713GAA[1] (p.Lys238del)	Microsatellite	Uncertain significance	202213	rs796052214	GRCh37: 5:179252183-179252185 GRCh38: 5:179825183-179825185
30	SQSTM1	NM_003900.5(SQSTM1):c.139C>G (p.Leu47Val)	SNV	Uncertain significance	664776	rs779786150	GRCh37: 5:179248075-179248075 GRCh38: 5:179821075-179821075
31	SQSTM1	NM_003900.5(SQSTM1):c.626G>A (p.Arg209His)	SNV	Uncertain significance	838159		GRCh37: 5:179251276-179251276 GRCh38: 5:179824276-179824276
32	SQSTM1	NM_003900.5(SQSTM1):c.241G>A (p.Glu81Lys)	SNV	Uncertain significance	838847		GRCh37: 5:179249993-179249993 GRCh38: 5:179822993-179822993
33	SQSTM1	NM_003900.5(SQSTM1):c.374A>G (p.Asn125Ser)	SNV	Uncertain significance	839604		GRCh37: 5:179250930-179250930 GRCh38: 5:179823930-179823930
34	SQSTM1	NM_003900.5(SQSTM1):c.767A>G (p.Asp256Gly)	SNV	Uncertain significance	850973		GRCh37: 5:179260044-179260044 GRCh38: 5:179833044-179833044
35	SQSTM1	NM_003900.5(SQSTM1):c.756C>T (p.Gly252=)	SNV	Uncertain significance	388956	rs769297000	GRCh37: 5:179260033-179260033 GRCh38: 5:179833033-179833033
36	SQSTM1	NM_003900.5(SQSTM1):c.1316C>T (p.Pro439Leu)	SNV	Uncertain significance	851619		GRCh37: 5:179263586-179263586 GRCh38: 5:179836586-179836586
37	SQSTM1	NM_003900.5(SQSTM1):c.5C>T (p.Ala2Val)	SNV	Uncertain significance	861123		GRCh37: 5:179247941-179247941 GRCh38: 5:179820941-179820941
38	SQSTM1	NM_003900.5(SQSTM1):c.1313C>T (p.Pro438Leu)	SNV	Uncertain significance	947710		GRCh37: 5:179263583-179263583 GRCh38: 5:179836583-179836583
39	SQSTM1	NM_003900.5(SQSTM1):c.827C>T (p.Ser276Phe)	SNV	Uncertain significance	955638		GRCh37: 5:179260104-179260104 GRCh38: 5:179833104-179833104
40	SQSTM1	NM_003900.5(SQSTM1):c.121C>T (p.Pro41Ser)	SNV	Uncertain significance	959506		GRCh37: 5:179248057-179248057 GRCh38: 5:179821057-179821057
41	SQSTM1	NM_003900.5(SQSTM1):c.1166-1G>A	SNV	Uncertain significance	962371		GRCh37: 5:179263435-179263435 GRCh38: 5:179836435-179836435
42	SQSTM1	NM_003900.5(SQSTM1):c.50C>T (p.Ala17Val)	SNV	Uncertain significance	906314		GRCh37: 5:179247986-179247986 GRCh38: 5:179820986-179820986
43	SQSTM1	NM_003900.5(SQSTM1):c.1032A>G (p.Lys344=)	SNV	Uncertain significance	969428		GRCh37: 5:179260649-179260649 GRCh38: 5:179833649-179833649
44	TNFRSF11A	NM_003839.4(TNFRSF11A):c.284-4G>A	SNV	Uncertain significance	891049		GRCh37: 18:60021620-60021620 GRCh38: 18:62354387-62354387
45	TNFRSF11A	NM_003839.4(TNFRSF11A):c.133C>T (p.Arg45Trp)	SNV	Uncertain significance	891048		GRCh37: 18:60015458-60015458 GRCh38: 18:62348225-62348225
46	SQSTM1	NM_003900.5(SQSTM1):c.695C>T (p.Pro232Leu)	SNV	Uncertain significance	969651		GRCh37: 5:179252167-179252167 GRCh38: 5:179825167-179825167
47	TNFRSF11A	NM_003839.4(TNFRSF11A):c.-22G>T	SNV	Uncertain significance	888782		GRCh37: 18:59992564-59992564 GRCh38: 18:62325331-62325331
48	TNFRSF11A	NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=)	SNV	Uncertain significance	287597	rs34966542	GRCh37: 18:60036404-60036404 GRCh38: 18:62369171-62369171
49	TNFRSF11A	NM_003839.4(TNFRSF11A):c.1279G>A (p.Asp427Asn)	SNV	Uncertain significance	713429	rs201402594	GRCh37: 18:60036429-60036429 GRCh38: 18:62369196-62369196
50	TNFRSF11A	NM_003839.4(TNFRSF11A):c.*126C>T	SNV	Uncertain significance	892431		GRCh37: 18:60052393-60052393 GRCh38: 18:62385160-62385160

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Expression for Paget Disease of Bone 2, Early-Onset

Search GEO for disease gene expression data for Paget Disease of Bone 2, Early-Onset.

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Pathways for Paget Disease of Bone 2, Early-Onset

Pathways related to Paget Disease of Bone 2, Early-Onset according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	RANK Signaling in Osteoclasts ⁶³ Show member pathways Apoptosis and survival APRIL and BAFF signaling ²³ APRIL Pathway ⁶³ BAFF in B-Cell Signaling ⁶³ RANK Pathway ⁶³ RANKL/RANK (Receptor activator of NFKB (ligand)) Signaling Pathway ¹	11.55	TNFRSF11A SQSTM1
2	Osteoclast differentiation ³⁶	11.06	TNFRSF11A SQSTM1
3	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway ²³ Show member pathways Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway ²³	10.49	TNFRSF11A SQSTM1

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GO Terms for Paget Disease of Bone 2, Early-Onset

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Sources for Paget Disease of Bone 2, Early-Onset

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

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Paget Disease of Bone 2, Early-Onset (PDB2)

Aliases & Classifications for Paget Disease of Bone 2, Early-Onset

MalaCards integrated aliases for Paget Disease of Bone 2, Early-Onset:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Paget Disease of Bone 2, Early-Onset

Related Diseases for Paget Disease of Bone 2, Early-Onset

Diseases in the Paget's Disease of Bone family:

Diseases related to Paget Disease of Bone 2, Early-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Paget Disease of Bone 2, Early-Onset:

Symptoms & Phenotypes for Paget Disease of Bone 2, Early-Onset

Human phenotypes related to Paget Disease of Bone 2, Early-Onset:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Paget Disease of Bone 2, Early-Onset

Genetic Tests for Paget Disease of Bone 2, Early-Onset

Genetic tests related to Paget Disease of Bone 2, Early-Onset:

Anatomical Context for Paget Disease of Bone 2, Early-Onset

MalaCards organs/tissues related to Paget Disease of Bone 2, Early-Onset:

Publications for Paget Disease of Bone 2, Early-Onset

Articles related to Paget Disease of Bone 2, Early-Onset:

Genes for Paget Disease of Bone 2, Early-Onset

Genes related to Paget Disease of Bone 2, Early-Onset (2 elite genes):

Variations for Paget Disease of Bone 2, Early-Onset

ClinVar genetic disease variations for Paget Disease of Bone 2, Early-Onset:

Expression for Paget Disease of Bone 2, Early-Onset

Pathways for Paget Disease of Bone 2, Early-Onset

Pathways related to Paget Disease of Bone 2, Early-Onset according to GeneCards Suite gene sharing:

GO Terms for Paget Disease of Bone 2, Early-Onset

Sources for Paget Disease of Bone 2, Early-Onset