Metachondromatosis

Table of contents:

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

Description

Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.

Genes related to Metachondromatosis

PTPN11

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Metachondromatosis

Short stature
Pain
Paralysis
Abnormality of the metaphysis
Bowing of the long bones
Abnormality of epiphysis morphology
Bone pain
Cranial nerve paralysis
Abnormal joint morphology
Aseptic necrosis

And another 5 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Metachondromatosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PTPN11 Sequence Analysis. By Baylor Miraca Genetics Laboratories (United States). PTPN11 Specificity 100 % Genes 100 %
PTPN11 Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories (United States). PTPN11 Specificity 100 % Genes 100 %
PTPN11 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories (United States). PTPN11 Specificity 100 % Genes 100 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen. By Baylor Miraca Genetics Laboratories (United States). RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...) View the complete list with 9 more genes Panel complete gene list RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS, JAG1, KRAS, MAP2K1, MAP2K2, MECP2, NRAS, PTPN11, RAD21, RAF1 Specificity 4 % Genes 100 %
Hereditary Leukemia/Lymphoma Panel. By Baylor Miraca Genetics Laboratories (United States). RUNX1, BRCA2, TP53, CBL, CEBPA, SBDS, BRIP1, PALB2, GATA2, ATM, PAX5, PRF1, PTPN11 Specificity 8 % Genes 100 %
Comprehensive Hereditary Cancer Panel. By Baylor Miraca Genetics Laboratories (United States). RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...) View the complete list with 39 more genes Panel complete gene list RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A, CEBPA, SBDS, BRIP1, SDHAF2, TMEM127, PALB2, FLCN, ENG, FH, GATA2, ALK, GPC3, APC, SMAD4, MAX, MEN1, MET, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF2, ATM, PAX5, PMS1, PMS2, PHOX2B, PRF1, PRKAR1A, BARD1, PTCH1, PTEN, PTPN11, RAD50, RAD51C, RAD51D, RET Specificity 2 % Genes 100 %
Noonan Syndrome (PTPN11) DNA Sequencing Test. By Athena Diagnostics Inc (United States). PTPN11 Specificity 100 % Genes 100 %
Syndromic Autism Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...) View the complete list with 63 more genes Panel complete gene list SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3, ZEB2, CASK, SETBP1, ADNP, RAB39B, UBE3C, BCKDK, SYNE1, ARID1B, ARX, PHF6, TMLHE, SETD2, CHD8, MBD5, CHD7, TUBA1A, VPS13B, KIRREL3, NTNG1, CREBBP, EHMT1, SMC3, CTNNB1, PTCHD1, DHCR7, NIPBL, TBL1XR1, DYRK1A, FGD1, TMEM231, FMR1, FOLR1, FOXG1, FOXP1, ALDH5A1, GABRB3, GRIN2B, AMT, HOXA1, HPRT1, AP1S2, L1CAM, LAMC3, MECP2, MEF2C, MID1, NHS, NRXN1, OPHN1, PAFAH1B1, ATRX, PNKP, PQBP1, PTEN, PTPN11, RAD21, RAI1, RELN Specificity 2 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Symptoms Checker

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