Pycnodysostosis

Description

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

Clinical Features

Top most frequent phenotypes and symptoms related to Pycnodysostosis

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment
  • Anemia
  • Hepatomegaly
  • Brachydactyly
  • Macrocephaly
  • Frontal bossing

And another 68 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available PYCNODYSOSTOSIS have a estimated prevalence of 0.13 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Pycnodysostosis Is also known as pyknodysostosis, pycd, pknd.

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.

Pycnodysostosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®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 %
CTSK Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

CTSK
Specificity
100 %
Genes
100 %
CTSK Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CTSK
Specificity
100 %
Genes
100 %
CTSK Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

CTSK
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Lysosomal Storage Disease Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %

You can get up to 39 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Symptoms Checker

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