SLCO2A1 gene related symptoms and diseases
All the information presented here about the SLCO2A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLCO2A1 gene
Symptoms // Phenotype | % Cases |
---|---|
Thickened skin | Common - Between 50% and 80% cases |
Seborrheic dermatitis | Common - Between 50% and 80% cases |
Hyperhidrosis | Common - Between 50% and 80% cases |
Arthralgia | Common - Between 50% and 80% cases |
Coarse facial features | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with SLCO2A1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cutis gyrata of scalp
Not very common - Between 30% and 50% cases
- Scoliosis
- Abnormal hair pattern
- Abnormal cortical bone morphology
- Peptic ulcer
- Abnormal hair quantity
- Eczematoid dermatitis
- Abnormality of bone marrow cell morphology
And 39 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLCO2A1 gene
Here you will find a list of rare diseases related to the SLCO2A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PACHYDERMOPERIOSTOSIS
Alternate names
PACHYDERMOPERIOSTOSIS Is also known as touraine-solente-gole syndrome, pdp
Description
Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.
Most common symptoms of PACHYDERMOPERIOSTOSIS
- Scoliosis
- Ptosis
- Anemia
- Hepatomegaly
- Edema
More info about PACHYDERMOPERIOSTOSIS
SOURCES: ORPHANET
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2
Alternate names
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2 Is also known as pachydermoperiostosis, autosomal recessive, pdp, autosomal recessive
Description
Primary hypertrophic osteoarthropathy (PHO), which is also known as pachydermoperiostosis, is a rare genetic disease that affects the skin and bones. PHO is characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and skin manifestations that include thickened facial skin, a thickened scalp, and coarse facial features (summary by Zhang et al., 2012).For a discussion of genetic heterogeneity of PHO, see PHOAR1 (OMIM ).
Most common symptoms of HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2
- Abnormal facial shape
- Patent ductus arteriosus
- Hyperhidrosis
- Arthralgia
- Coarse facial features
More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2
SOURCES: OMIM
CHRONIC ENTEROPATHY ASSOCIATED WITH SLCO2A1 GENE
Alternate names
CHRONIC ENTEROPATHY ASSOCIATED WITH SLCO2A1 GENE Is also known as ceas
More info about CHRONIC ENTEROPATHY ASSOCIATED WITH SLCO2A1 GENE
SOURCES: ORPHANET
Search interest in SLCO2A1
Potential gene panels for SLCO2A1 gene
Hypertrophic osteoarthropathy, primary 2 AR (sequence analysis of SLCO2A1 gene) Panel
By CGC Genetics
This panel specifically test the SLCO2A1 gene.
More info about this panelSkeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panelDense bone dysplasia NGS panel Panel
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 panelDense bone dysplasia Comprehensive panel Panel
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 panelDense bone dysplasia Deletion / Duplication panel Panel
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 panelOsteopetrosis and Dense bone dysplasia Deletion / Duplication panel Panel
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 panelOsteopetrosis and Dense bone dysplasia NGS panel Panel
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 panelOsteopetrosis and Dense bone dysplasia Comprehensive panel Panel
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 panelHypertrophic osteoarthropathy type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SLCO2A1 gene.
More info about this panelSkeletal dysplasia with increased bone density Panel Panel
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 panelSLCO2A1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLCO2A1 gene.
More info about this panelOsteopetrosis and Dense Bone Dysplasia Panel Panel
By Blueprint Genetics Osteopetrosis and Dense Bone Dysplasia Panel that also includes the following genes: SLCO2A1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST SNX10
More info about this panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panelPRIMARY HYPERTROPHIC OSTEOARTHROPATHY (PACHYDERMOPERIOSTOSIS) Panel
By Laboratorio de Genetica Clinica SL PRIMARY HYPERTROPHIC OSTEOARTHROPATHY (PACHYDERMOPERIOSTOSIS) that also includes the following genes: SLCO2A1 HPGD
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