HPGD gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to HPGD gene

Symptoms // Phenotype % Cases
Arthralgia Common - Between 50% and 80% cases
Joint swelling Common - Between 50% and 80% cases
Arthritis Common - Between 50% and 80% cases
Eczematoid dermatitis Uncommon - Between 30% and 50% cases
Acne Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with HPGD gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Growth hormone excess
  • Large fontanelles
  • Patent ductus arteriosus
  • Abnormal cortical bone morphology
  • Seborrheic dermatitis
  • Clubbing of fingers
  • Thickened skin
  • Limitation of joint mobility

And 116 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HPGD gene

Here you will find a list of rare diseases related to the HPGD. 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

CRANIO-OSTEOARTHROPATHY


Alternate names

CRANIO-OSTEOARTHROPATHY Is also known as sdam, currarino idiopathic osteoarthropathy, currarino disease, reginato-schiapachasse syndrome

Description

Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.

Most common symptoms of CRANIO-OSTEOARTHROPATHY

  • Ventricular septal defect
  • Headache
  • Patent ductus arteriosus
  • Constipation
  • Diabetes mellitus


More info about CRANIO-OSTEOARTHROPATHY

SOURCES: ORPHANET OMIM

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1


Alternate names

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive, pachydermoperiostosis, autosomal recessive, pdp, autosomal recessive, touraine-solente-gole syndrome

Description

Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

Most common symptoms of HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

SOURCES: OMIM

ISOLATED CONGENITAL DIGITAL CLUBBING


Alternate names

ISOLATED CONGENITAL DIGITAL CLUBBING Is also known as clubbing of digits, isolated congenital acropachy, acropachy, hereditary, isolated congenital nail clubbing

Description

Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.

Most common symptoms of ISOLATED CONGENITAL DIGITAL CLUBBING

  • Cyanosis
  • Bronchiectasis
  • Psoriasiform dermatitis
  • Clubbing
  • Abnormality of the gastrointestinal tract


More info about ISOLATED CONGENITAL DIGITAL CLUBBING

SOURCES: OMIM ORPHANET


Potential gene panels for HPGD gene

HPGD. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the HPGD 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

Primary Hypertrophic Osteoarthropathy, Autosomal Recessive Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the HPGD gene.

More info about this panel

Hypertrophic osteoarthropathy type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HPGD 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

Skeletal Dysplasia With Increased Bone Density: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia With Increased Bone Density: Sequencing Panel that also includes the following genes: TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST ANKH

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

HPGD Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HPGD gene.

More info about this panel

Cranioosteoarthropathy Panel

Spain.

By Bioarray

This panel specifically test the HPGD gene.

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

Pachydermoperiostosis , Sequencing HPGD Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HPGD gene.

More info about this panel

Rheumatoid Type Osteoarthropathy and Related Disorders , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Rheumatoid Type Osteoarthropathy and Related Disorders , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: CCN6 LPIN2 TRPV4 ACAN HPGD IL1RN

More info about this panel


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