Paget Disease Of Bone 2, Early-onset; Pdb2

Description

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}.

Clinical Features

Top most frequent phenotypes and symptoms related to Paget Disease Of Bone 2, Early-onset; Pdb2

  • Hearing impairment
  • Pain
  • Tetraparesis
  • Bone pain
  • Increased bone mineral density
  • Paraparesis
  • Osteolysis
  • Cranial nerve paralysis
  • Progressive hearing impairment
  • Abnormality of pelvic girdle bone morphology

And another 10 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Paget Disease Of Bone 2, Early-onset; Pdb2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
TNFRSF11A Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

TNFRSF11A
Specificity
100 %
Genes
100 %
TNFRSF11A Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TNFRSF11A
Specificity
100 %
Genes
100 %
TNFRSF11A Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TNFRSF11A
Specificity
100 %
Genes
100 %
TNFRSF11A Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TNFRSF11A
Specificity
100 %
Genes
100 %
Low Bone Mass Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC34A1, SLC9A3R1, TNFRSF11A, TNFRSF11B, IFITM5, SP7, FKBP10, P3H1, SLC39A13, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, FBN1, ALPL, SERPINF1, PLOD2, PLOD3, PPIB , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
TNFRSF11A.

By Institute for Human Genetics University Clinic Freiburg (Germany).

TNFRSF11A
Specificity
100 %
Genes
100 %
Paget Disease of Bone (sequence analysis of TNFRSF11A gene).

By CGC Genetics (Portugal).

TNFRSF11A
Specificity
100 %
Genes
100 %

You can get up to 38 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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