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.
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
Search interest in MTAP
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 United States.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 United States.
MTAP Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MTAP gene.
More info about this panel United States.
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 United States.
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 United States.
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 United States.
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 Canada.
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