MTAP gene related symptoms and diseases

All the information presented here about the MTAP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MTAP gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Soft skin Very Common - Between 80% and 100% cases
Diaphyseal cortical sclerosis Very Common - Between 80% and 100% cases
Stenosis of the medullary cavity of the long bones Very Common - Between 80% and 100% cases
Patchy osteosclerosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MTAP gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Histiocytoma
  • Metaphyseal striations
  • Presenile cataracts
  • Fibrosarcoma
  • Limb-girdle muscle atrophy
  • Fractures of the long bones
  • Osteosarcoma
  • Limb-girdle muscle weakness

And 15 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to MTAP gene

Here you will find a list of rare diseases related to the MTAP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME


Alternate names

DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME Is also known as hardcastle syndrome, myopathy, limb-girdle, with bone fragility, bone dysplasia with medullary fibrosarcoma, diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome, bone dysplasia-medullary fibrosarcoma syndrome, bdmf, bone dysplasia with maligna

Description

Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).

Most common symptoms of DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME

  • Neoplasm
  • Muscle weakness
  • Skeletal muscle atrophy
  • Myopathy
  • Osteopenia


More info about DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for MTAP gene

CHOP Comprehensive Hereditary Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13

More info about this panel

Diaphyseal medullary stenosis with malignant fibrous histiocytoma (sequence analysis of MTAP gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MTAP gene.

More info about this panel

Dense bone dysplasia NGS panel Panel

United States.

By Connective Tissue Gene Tests Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD

More info about this panel

Dense bone dysplasia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD

More info about this panel

Dense bone dysplasia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD

More info about this panel

Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel

Osteopetrosis and Dense bone dysplasia NGS panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel

Osteopetrosis and Dense bone dysplasia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel

Diaphyseal medullary stenosis with malignant fibrous histiocytoma Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MTAP gene.

More info about this panel

Skeletal dysplasia with increased bone density Panel Panel

Germany.

By CeGaT GmbH Skeletal dysplasia with increased bone density Panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 CA2 SOST SNX10

More info about this panel

Hearing Loss NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2

More info about this panel

MTAP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MTAP gene.

More info about this panel

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel

United States.

By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CAPN3 ATP7B MMAB DRD3 NEK1 AGL AMTN

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more