Metaphyseal Chondrodysplasia, Jansen Type

Table of contents:

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

Description

Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.

Genes related to Metaphyseal Chondrodysplasia, Jansen Type

PTH1R

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Clinical Features

Top most frequent phenotypes and symptoms related to Metaphyseal Chondrodysplasia, Jansen Type

Intellectual disability
Global developmental delay
Short stature
Hearing impairment
Hypertelorism
Micrognathia
Flexion contracture
Brachydactyly
Abnormality of the skeletal system
Blindness

And another 40 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.

Alternative names

Metaphyseal Chondrodysplasia, Jansen Type Is also known as metaphyseal chondrodysplasia, murk jansen type.

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.

Metaphyseal Chondrodysplasia, Jansen Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...) View the complete list with 66 more genes Panel complete gene list RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9, CDAN1, KAT6B, ALG1, CHRNA1, CHRND, CHRNG, CANT1, KIAA0586, CLCNKA, CLCNKB, SUMF1, PEX26, FAT4, DHCR7, PIEZO1, WDR35, CCBE1, GNPTAB, FGFR3, FOXC2, G6PD, GALNS, GATA1, GBA, GBE1, GLA, GLB1, GUSB, HADHA, HADHB, HRAS, IDUA, FOXP3, KLF1, KIF23, KRAS, LBR, LIPA, LZTR1, MAP2K1, MAP2K2, MID1, KMT2D, ASAH1, MVK, NEU1, NPC1, NRAS, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PIGA, PKLR, PMM2, CTSA, PTH1R, PTPN11, PEX19, PEX5, RAF1, RASA1 Specificity 2 % Genes 100 %
Hyperparathyroidism Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). CASR, CDC73, CDKN1B, GNA11, AP2S1, MEN1, PTH1R, RET Specificity 13 % Genes 100 %
Hyperparathyroidism Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). CASR, CDC73, CDKN1B, GNA11, AP2S1, MEN1, PTH1R, RET Specificity 13 % Genes 100 %
PTH1R mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). PTH1R Specificity 100 % Genes 100 %
PTH1R. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). PTH1R Specificity 100 % Genes 100 %
Eiken syndrome (sequence analysis of PTH1R gene). By CGC Genetics (Portugal). PTH1R Specificity 100 % Genes 100 %
Skeletal dysplasia (NGS panel for 31 genes). By CGC Genetics (Portugal). RMRP, SLC26A2, SOX9, TRIP11, NSDHL, TRPV4, P3H1, SBDS, SLC35D1, COL10A1, COL11A1, COL11A2, COL1A2, CRTAP, DDR2, EBP, FGFR3, FLNB, ALPL, HSPG2 , (...) View the complete list with 9 more genes Panel complete gene list RMRP, SLC26A2, SOX9, TRIP11, NSDHL, TRPV4, P3H1, SBDS, SLC35D1, COL10A1, COL11A1, COL11A2, COL1A2, CRTAP, DDR2, EBP, FGFR3, FLNB, ALPL, HSPG2, INPPL1, LBR, LIFR, MMP13, MMP9, ARSE, PEX7, NKX3-2, PTH1R Specificity 4 % Genes 100 %
Blomstrand lethal chondrodysplasia (sequence analysis of PTH1R gene). By CGC Genetics (Portugal). PTH1R Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Search Engine

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