Dysosteosclerosis

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.

Genes related to Dysosteosclerosis

SLC29A3

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Dysosteosclerosis

Intellectual disability
Seizures
Global developmental delay
Short stature
Hearing impairment
Hypertelorism
Nystagmus
Micrognathia
High palate
Macrocephaly

And another 60 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.

Dysosteosclerosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...) View the complete list with 100 more genes Panel complete gene list RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN, CDH23, CACNA1D, ACTG1, PCDH15, DIAPH3, ANKH, ABHD12, SALL4, STRC, DTD1, USH1G, WHRN, OTOA, NLRP3, BSND, TMC1, TRIOBP, ADGRV1, CDKN1C, CCDC50, GIPC3, SLC17A8, CLDN14, CHD7, LHFPL5, ABHD5, DIABLO, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, SLC29A3, MYH14, CRYM, CISD2, CIB2, LRTOMT, PDZD7, MARVELD2, LOXHD1, TPRN, MSRB3, GRHL2, GSDME, ILDR1, DIAPH1, DLX5, GPSM2, PJVK, DNMT1, DSPP, TMIE, MIR96, GRXCR1, EDN3, EDNRB, CEACAM16, ESRRB, EYA1, EYA4, FGF3, FGFR3, FOXC1, FOXI1, GATA3, GJB2, GJB6, HGF, HSD17B4, KCNE1, KCNJ10, KCNQ1, KCNQ4, MASP1, MITF, ARSB, MT-RNR1, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, NDP, OTOF, ATP6V1B1, PAX3, SLC26A4, SERPINB6, PITX2, POU3F4, POU4F3, SLC26A5, PRPS1, PTPRQ, RDX Specificity 1 % Genes 100 %
SLC29A3 sequencing. By Genetic Services Laboratory University of Chicago (United States). SLC29A3 Specificity 100 % Genes 100 %
SLC29A3 deletion/duplication analysis. By Genetic Services Laboratory University of Chicago (United States). SLC29A3 Specificity 100 % Genes 100 %
SLC29A3. By Institute for Human Genetics University Clinic Freiburg (Germany). SLC29A3 Specificity 100 % Genes 100 %
SLC29A3. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). SLC29A3 Specificity 100 % Genes 100 %
Histiocytosis-lymphadenopathy plus syndrome (sequence analysis of SLC29A3 gene). By CGC Genetics (Portugal). SLC29A3 Specificity 100 % Genes 100 %
Histiocytosis-Lymphadenopathy Plus Syndrome via SLC29A3 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SLC29A3 Specificity 100 % Genes 100 %
Histiocytosis-lymphadenopathy plus syndrome. By Centogene AG - the Rare Disease Company (Germany). SLC29A3 Specificity 100 % Genes 100 %

You can get up to 16 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Symptoms Checker

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