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

Sources

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 ⁷³ ²⁸ ⁵

Pdb2 ⁵⁷ ⁷³

Paget Disease of Bone, Type 2, Early-Onset ³⁸

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

HPO:

³⁰

paget disease of bone 2, early-onset:
Onset and clinical course 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)

Sources

Summaries for Paget Disease of Bone 2, Early-Onset

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 08-Dec-2022)

MalaCards based summary: Paget Disease of Bone 2, Early-Onset, also known as pdb2, is related to paget's disease of bone and mammary paget's disease. 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 Cytokine Signaling in Immune system and Clock-controlled autophagy in bone metabolism. Affiliated tissues include bone and brain, and related phenotypes are hypercalcemia and headache

UniProtKB/Swiss-Prot: ⁷³ 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.

Sources

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	paget's disease of bone	30.9	TNFRSF11A SQSTM1
2	mammary paget's disease	29.4	TNFRSF11A SQSTM1
3	paget disease of bone 3	10.0
4	osteogenic sarcoma	10.0
5	periostitis	9.7	TNFRSF11A SQSTM1
6	familial expansile osteolysis	9.7	TNFRSF11A SQSTM1
7	breast adenocarcinoma	9.5	TNFRSF11A SQSTM1

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

Sources

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

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

³⁰ (show all 22)

#	Description	HPO Frequency	HPO Source Accession
1	hypercalcemia ³⁰	Very rare (1%)	HP:0003072
2	headache ³⁰	Very rare (1%)	HP:0002315
3	femoral bowing ³⁰	Very rare (1%)	HP:0002980
4	increased susceptibility to fractures ³⁰	Very rare (1%)	HP:0002659
5	short femur ³⁰	Very rare (1%)	HP:0003097
6	bilateral conductive hearing impairment ³⁰	Very rare (1%)	HP:0008513
7	sclerosis of skull base ³⁰	Very rare (1%)	HP:0002694
8	sandwich appearance of vertebral bodies ³⁰	Very rare (1%)	HP:0004618
9	elevated circulating alkaline phosphatase concentration ³⁰	Very rare (1%)	HP:0003155
10	osteosclerosis of the ulna ³⁰	Very rare (1%)	HP:0003991
11	bowing of the long bones ³⁰		HP:0006487
12	cranial nerve paralysis ³⁰		HP:0006824
13	bone pain ³⁰		HP:0002653
14	osteolysis ³⁰		HP:0002797
15	brain stem compression ³⁰		HP:0002512
16	fractures of the long bones ³⁰		HP:0003084
17	tetraparesis ³⁰		HP:0002273
18	premature loss of teeth ³⁰		HP:0006480
19	paraparesis ³⁰		HP:0002385
20	hydroxyprolinuria ³⁰		HP:0003080
21	long-tract signs ³⁰		HP:0002423
22	vertebral compression fracture ³⁰		HP:0002953

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 08-Dec-2022)

Sources

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

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

Sources

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 ²⁸	TNFRSF11A

Sources

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

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

MalaCards : Bone, Brain

Sources

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. ⁵⁷ ⁵	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 ⁵	Whyte MP...Hughes AE	11771666	2002
3	Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. ⁵⁷ ⁵	Hughes AE...Anderson DM	10615125	2000
4	Beyond dystonia and ataxia: Expanding the phenotype of SQSTM1 mutations. ⁵	Zuniga-Ramirez C...Fasano A	30638816	2019
5	Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration. ⁵	Muto V...Tartaglia M	29959261	2018
6	Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy. ⁵	Haack TB...Klopstock T	27545679	2016
7	Targeted next-generation sequencing assay for detection of mutations in primary myopathies. ⁵	Evila A...Hackman P	26627873	2016
8	Selective autophagic receptor p62 regulates the abundance of transcriptional coregulator ARIP4 during nutrient starvation. ⁵	Tsuchiya M...Ogawa H	26412716	2015
9	SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. ⁵	Bucelli RC...Weihl CC	26208961	2015
10	Genetics of Paget's disease of bone. ⁵⁷	Ralston SH...Albagha OM	24988994	2014
11	Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology. ⁵	Teyssou E...Millecamps S	23417734	2013
12	SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. ⁵	Fecto F...Siddique T	22084127	2011
13	Pathogenesis and management of Paget's disease of bone. ⁵⁷	Ralston SH...Reid IR	18620951	2008
14	Delayed development of Paget's disease in offspring inheriting SQSTM1 mutations. ⁵	Bolland MJ...Cundy T	17181397	2007
15	Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations. ⁵	Collet C...Laplanche JL	17129171	2007
16	Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. ⁵	Buratti E...Vorechovsky I	17576681	2007
17	Identification and molecular characterization of a novel splice-site mutation (G1205C) in the SQSTM1 gene causing Paget's disease of bone in an extended American family. ⁵	Beyens G...Van Hul W	17120186	2006
18	Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences. ⁵	Hocking LJ...Ralston SH	15176995	2004
19	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
20	Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. ⁵	Hocking LJ...Ralston SH	12374763	2002
21	Paget's disease of bone: evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity. ⁵⁷	Haslam SI...Ralston SH	9626621	1998
22	Statistical features of human exons and their flanking regions. ⁵	Zhang MQ	9536098	1998
23	Genetic linkage of Paget disease of the bone to chromosome 18q. ⁵⁷	Cody JD...Leach RJ	9345096	1997
24	Achieving Molecular Fluorescent Conversion from Aggregation-Caused Quenching to Aggregation-Induced Emission by Positional Isomerization. ⁶²	Wang X...Xie L	35011426	2021
25	Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK. ⁶²	Iwamoto SJ...Whyte MP	31923705	2020
26	Robust DNase activity of the ooplasm can act as a gametic transfection barrier in rainbow trout. ⁶²	Barkhojasteh M...Eghbalsaied S	31574402	2020
27	Isolation, characterization and growth kinetics of phenol hyper-tolerant bacteria from sewage-fed aquaculture system. ⁶²	Nandi L...Manna SK	31790335	2020
28	Dysosteosclerosis is also caused by TNFRSF11A mutation. ⁶²	Guo L...Ikegawa S	29568001	2018
29	Developing a puncture-free in ovo chicken transfection strategy based on bypassing albumen nucleases. ⁶²	Amini HR...Eghbalsaied S	28215692	2017
30	Evidence of circulation of the novel border disease virus genotype 8 in chamois. ⁶²	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. ⁶²	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. ⁶²	Simsek S...Netelenbos JC	17284635	2007
33	Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling. ⁶²	Whyte MP	16831914	2006
34	Heritable disorders of the RANKL/OPG/RANK signaling pathway. ⁶²	Whyte MP...Mumm S	15615493	2004
35	Linkage of Paget disease of bone to a novel region on human chromosome 18q23. ⁶²	Good DA...Shaw JT	11742440	2002
36	Paget disease of bone: mapping of two loci at 5q35-qter and 5q31. ⁶²	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. ⁶²	Good D...Shaw JT	11149487	2001
38	Citrate synthase activity in Escherichia coli harbouring hybrid plasmids containing the gltA gene. ⁶²	Bloxham DP...Drabble WT	6355385	1983

Sources

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	1058.1	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ Susceptibility factor ⁵⁷ GeneCards inferred via : Disorders (show sections)	10615125 11771666 25063546
2	SQSTM1	Sequestosome 1	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	9536098 12374763 15176995 (more) 17120186 17129171 17181397 17576681 22084127 23417734 26208961 26412716 26627873 27545679 29959261 30638816

Sources

Variations for Paget Disease of Bone 2, Early-Onset

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

⁵ (show top 50) (show all 453)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TNFRSF11A	NM_003839.4(TNFRSF11A):c.49_63dup (p.Leu17_Leu21dup)	DUP	Pathogenic	208144	rs1555767678	GRCh37: 18:59992633-59992634 GRCh38: 18:62325400-62325401
2	SQSTM1	NM_003900.5(SQSTM1):c.1054G>T (p.Glu352Ter)	SNV	Pathogenic	1319146		GRCh37: 5:179260671-179260671 GRCh38: 5:179833671-179833671
3	SQSTM1	NM_003900.5(SQSTM1):c.301+1G>T	SNV	Pathogenic	1387627		GRCh37: 5:179250054-179250054 GRCh38: 5:179823054-179823054
4	SQSTM1	NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser)	SNV	Pathogenic	1458052		GRCh37: 5:179263501-179263501 GRCh38: 5:179836501-179836501
5	SQSTM1	NM_003900.5(SQSTM1):c.244G>T (p.Glu82Ter)	SNV	Pathogenic	1076912		GRCh37: 5:179249996-179249996 GRCh38: 5:179822996-179822996
6	SQSTM1	NM_003900.5(SQSTM1):c.1165G>C (p.Glu389Gln)	SNV	Pathogenic	1459183		GRCh37: 5:179260782-179260782 GRCh38: 5:179833782-179833782
7	SQSTM1	NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter)	SNV	Pathogenic	642133	rs1185406298	GRCh37: 5:179260612-179260612 GRCh38: 5:179833612-179833612
8	SQSTM1	NM_003900.5(SQSTM1):c.526_529del (p.Ser176fs)	DEL	Pathogenic	503881	rs1331685476	GRCh37: 5:179251079-179251082 GRCh38: 5:179824079-179824082
9	SQSTM1	NM_003900.5(SQSTM1):c.810del (p.Val271fs)	DEL	Pathogenic	967349	rs1758316662	GRCh37: 5:179260083-179260083 GRCh38: 5:179833083-179833083
10	TNFRSF11A	NM_003839.4(TNFRSF11A):c.39_65dup (p.Leu14_Ala22dup)	DUP	Pathogenic	6300	rs796051862	GRCh37: 18:59992619-59992620 GRCh38: 18:62325386-62325387
11	SQSTM1	NM_003900.5(SQSTM1):c.1185dup (p.Glu396Ter)	DUP	Pathogenic	835699	rs1254158201	GRCh37: 5:179263453-179263454 GRCh38: 5:179836453-179836454
12	TNFRSF11A	NM_003839.4(TNFRSF11A):c.45_62dup (p.Leu16_Leu21dup)	DUP	Pathogenic	208143	rs886037749	GRCh37: 18:59992620-59992621 GRCh38: 18:62325387-62325388
13	SQSTM1	NM_003900.5(SQSTM1):c.1211T>C (p.Met404Thr)	SNV	Pathogenic	855037	rs1247551175	GRCh37: 5:179263481-179263481 GRCh38: 5:179836481-179836481
14	SQSTM1	NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter)	SNV	Pathogenic	265782	rs886039782	GRCh37: 5:179250038-179250038 GRCh38: 5:179823038-179823038
15	SQSTM1	NM_003900.5(SQSTM1):c.1170del (p.Asp391fs)	DEL	Pathogenic	1069495		GRCh37: 5:179263440-179263440 GRCh38: 5:179836440-179836440
16	SQSTM1	NM_003900.5(SQSTM1):c.1210A>G (p.Met404Val)	SNV	Pathogenic	1071292		GRCh37: 5:179263480-179263480 GRCh38: 5:179836480-179836480
17	SQSTM1	NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg)	SNV	Pathogenic	1163456		GRCh37: 5:179263543-179263543 GRCh38: 5:179836543-179836543
18	SQSTM1	NM_003900.5(SQSTM1):c.1165+1G>A	SNV	Pathogenic	8110	rs796051870	GRCh37: 5:179260783-179260783 GRCh38: 5:179833783-179833783
19	SQSTM1	NM_003900.5(SQSTM1):c.970-2A>G	SNV	Likely Pathogenic	1473565		GRCh37: 5:179260585-179260585 GRCh38: 5:179833585-179833585
20	SQSTM1	NC_000005.9:g.(?_179260012)_(179260802_?)del	DEL	Uncertain Significance	1448318		GRCh37: 5:179260012-179260802 GRCh38:
21	SQSTM1	NM_003900.5(SQSTM1):c.557G>A (p.Arg186Gln)	SNV	Uncertain Significance	1448375		GRCh37: 5:179251207-179251207 GRCh38: 5:179824207-179824207
22	SQSTM1	NM_003900.5(SQSTM1):c.964C>T (p.Pro322Ser)	SNV	Uncertain Significance	1433383		GRCh37: 5:179260241-179260241 GRCh38: 5:179833241-179833241
23	SQSTM1	NM_003900.5(SQSTM1):c.385G>T (p.Asp129Tyr)	SNV	Uncertain Significance	1493743		GRCh37: 5:179250941-179250941 GRCh38: 5:179823941-179823941
24	SQSTM1	NM_003900.5(SQSTM1):c.771C>G (p.Ile257Met)	SNV	Uncertain Significance	1494010		GRCh37: 5:179260048-179260048 GRCh38: 5:179833048-179833048
25	SQSTM1	NM_003900.5(SQSTM1):c.1276G>A (p.Ala426Thr)	SNV	Uncertain Significance	1436054		GRCh37: 5:179263546-179263546 GRCh38: 5:179836546-179836546
26	SQSTM1	NM_003900.5(SQSTM1):c.998G>A (p.Gly333Glu)	SNV	Uncertain Significance	1468320		GRCh37: 5:179260615-179260615 GRCh38: 5:179833615-179833615
27	SQSTM1	NM_003900.5(SQSTM1):c.634C>G (p.Arg212Gly)	SNV	Uncertain Significance	1483836		GRCh37: 5:179251284-179251284 GRCh38: 5:179824284-179824284
28	SQSTM1	NM_003900.5(SQSTM1):c.1069C>G (p.Gln357Glu)	SNV	Uncertain Significance	1498798		GRCh37: 5:179260686-179260686 GRCh38: 5:179833686-179833686
29	SQSTM1	NM_003900.5(SQSTM1):c.319C>T (p.Arg107Trp)	SNV	Uncertain Significance	1449965		GRCh37: 5:179250875-179250875 GRCh38: 5:179823875-179823875
30	SQSTM1	NM_003900.5(SQSTM1):c.703A>G (p.Asn235Asp)	SNV	Uncertain Significance	1476497		GRCh37: 5:179252175-179252175 GRCh38: 5:179825175-179825175
31	SQSTM1	NM_003900.5(SQSTM1):c.173_175del (p.Leu58del)	DEL	Uncertain Significance	1511548		GRCh37: 5:179248107-179248109 GRCh38: 5:179821107-179821109
32	SQSTM1	NM_003900.5(SQSTM1):c.1109C>T (p.Ser370Phe)	SNV	Uncertain Significance	1497467		GRCh37: 5:179260726-179260726 GRCh38: 5:179833726-179833726
33	SQSTM1	NM_003900.5(SQSTM1):c.575A>G (p.His192Arg)	SNV	Uncertain Significance	1521767		GRCh37: 5:179251225-179251225 GRCh38: 5:179824225-179824225
34	SQSTM1	NM_003900.5(SQSTM1):c.847A>G (p.Ser283Gly)	SNV	Uncertain Significance	1498386		GRCh37: 5:179260124-179260124 GRCh38: 5:179833124-179833124
35	SQSTM1	NM_003900.5(SQSTM1):c.907G>A (p.Ala303Thr)	SNV	Uncertain Significance	1351752		GRCh37: 5:179260184-179260184 GRCh38: 5:179833184-179833184
36	SQSTM1	NM_003900.5(SQSTM1):c.527C>G (p.Ser176Cys)	SNV	Uncertain Significance	1418751		GRCh37: 5:179251083-179251083 GRCh38: 5:179824083-179824083
37	SQSTM1	NM_003900.5(SQSTM1):c.274G>A (p.Asp92Asn)	SNV	Uncertain Significance	1442932		GRCh37: 5:179250026-179250026 GRCh38: 5:179823026-179823026
38	SQSTM1	NM_003900.5(SQSTM1):c.622C>A (p.Pro208Thr)	SNV	Uncertain Significance	1461746		GRCh37: 5:179251272-179251272 GRCh38: 5:179824272-179824272
39	SQSTM1	NM_003900.5(SQSTM1):c.634C>T (p.Arg212Cys)	SNV	Uncertain Significance	1439801		GRCh37: 5:179251284-179251284 GRCh38: 5:179824284-179824284
40	SQSTM1	NM_003900.4(SQSTM1):c.970del	DEL	Uncertain Significance	542159	rs758377403	GRCh37: 5:179260586-179260586 GRCh38: 5:179833586-179833586
41	SQSTM1	NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu)	SNV	Uncertain Significance	202211	rs776749939	GRCh37: 5:179260777-179260777 GRCh38: 5:179833777-179833777
42	SQSTM1	NM_003900.5(SQSTM1):c.769A>G (p.Ile257Val)	SNV	Uncertain Significance	1392396		GRCh37: 5:179260046-179260046 GRCh38: 5:179833046-179833046
43	TNFRSF11A	NM_003839.4(TNFRSF11A):c.1018T>A (p.Phe340Ile)	SNV	Uncertain Significance	891182	rs764498229	GRCh37: 18:60036168-60036168 GRCh38: 18:62368935-62368935
44	TNFRSF11A	NM_003839.4(TNFRSF11A):c.1618A>G (p.Met540Val)	SNV	Uncertain Significance	327738	rs117028614	GRCh37: 18:60052034-60052034 GRCh38: 18:62384801-62384801
45	SQSTM1	NM_003900.5(SQSTM1):c.698G>C (p.Ser233Thr)	SNV	Uncertain Significance	1717299		GRCh37: 5:179252170-179252170 GRCh38: 5:179825170-179825170
46	SQSTM1	NM_003900.5(SQSTM1):c.104C>G (p.Ala35Gly)	SNV	Uncertain Significance	1713579		GRCh37: 5:179248040-179248040 GRCh38: 5:179821040-179821040
47	SQSTM1	NM_003900.5(SQSTM1):c.1104C>A (p.Asp368Glu)	SNV	Uncertain Significance	1719509		GRCh37: 5:179260721-179260721 GRCh38: 5:179833721-179833721
48	SQSTM1	NM_003900.5(SQSTM1):c.1198C>A (p.Gln400Lys)	SNV	Uncertain Significance	1719645		GRCh37: 5:179263468-179263468 GRCh38: 5:179836468-179836468
49	SQSTM1	NM_003900.5(SQSTM1):c.3G>A (p.Met1Ile)	SNV	Uncertain Significance	1472643		GRCh37: 5:179247939-179247939 GRCh38: 5:179820939-179820939
50	SQSTM1	NM_003900.5(SQSTM1):c.1288A>C (p.Thr430Pro)	SNV	Uncertain Significance	1434014		GRCh37: 5:179263558-179263558 GRCh38: 5:179836558-179836558

Sources

Expression for Paget Disease of Bone 2, Early-Onset

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

Sources

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	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	12.24	TNFRSF11A SQSTM1
2	Clock-controlled autophagy in bone metabolism ⁷⁴	10.86	TNFRSF11A SQSTM1
3	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway ²² Show member pathways Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway ²²	10.49	TNFRSF11A SQSTM1

Sources

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

Sources

Sources for Paget Disease of Bone 2, Early-Onset

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

PDB2 MCID: PGT009 MIFTS: 36	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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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:

Inheritance:

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

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