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.

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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


Potential gene panels for SLCO2A1 gene

Hypertrophic osteoarthropathy, primary 2 AR (sequence analysis of SLCO2A1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SLCO2A1 gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

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 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

Hypertrophic osteoarthropathy type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SLCO2A1 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

SLCO2A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLCO2A1 gene.

More info about this panel

Osteopetrosis and Dense Bone Dysplasia Panel Panel

Finland.

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 panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

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 panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

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 panel

PRIMARY HYPERTROPHIC OSTEOARTHROPATHY (PACHYDERMOPERIOSTOSIS) Panel

Spain.

By Laboratorio de Genetica Clinica SL PRIMARY HYPERTROPHIC OSTEOARTHROPATHY (PACHYDERMOPERIOSTOSIS) that also includes the following genes: SLCO2A1 HPGD

More info about this panel


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