Metaphyseal Anadysplasia 2; Mandp2

Clinical Features

Phenotypes and symptoms related to Metaphyseal Anadysplasia 2; Mandp2

  • Metaphyseal widening
  • Metaphyseal irregularity
  • Bowing of the legs
  • Short femoral neck
  • Metaphyseal dysplasia

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.

Metaphyseal Anadysplasia 2; Mandp2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Metaphyseal anadysplasia 2 (sequence analysis of MMP9 gene).

By CGC Genetics (Portugal).

MMP9
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
Specificity
4 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
1 %
Genes
100 %
Metaphyseal anadysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

MMP13, MMP9
Specificity
50 %
Genes
100 %
Metaphyseal anadysplasia NGS panel.

By Connective Tissue Gene Tests (United States).

MMP13, MMP9
Specificity
50 %
Genes
100 %
Metaphyseal anadysplasia Comprehensive panel.

By Connective Tissue Gene Tests (United States).

MMP13, MMP9
Specificity
50 %
Genes
100 %
Skeletal dysplasia extended NGS panel.

By Connective Tissue Gene Tests (United States).

RMRP, NSDHL, TRPV4, SBDS, SLC35D1, COL10A1, COL11A1, COL11A2, DDR2, EBP, FLNB, HSPG2, LBR, LIFR, MMP13, MMP9, ARSE, PEX7, PTH1R
Specificity
6 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %

You can get up to 27 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES PRUNE BELLY SYNDROME; PBS EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54; EIEE54 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7 PFEIFFER SYNDROME PEUTZ-JEGHERS SYNDROME; PJS NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3