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.
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
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.
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
Search interest in HPGD
Potential gene panels for HPGD gene
HPGD. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the HPGD 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 panelPrimary Hypertrophic Osteoarthropathy, Autosomal Recessive Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the HPGD gene.
More info about this panelHypertrophic osteoarthropathy type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the HPGD 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 panelSkeletal Dysplasia With Increased Bone Density: Sequencing Panel Panel
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 panelSkeletal Dysplasia: Sequencing Panel Panel
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 panelSkeletal Dysplasias NGS panel Panel
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 panelHPGD Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HPGD gene.
More info about this panelCranioosteoarthropathy Panel
By Bioarray
This panel specifically test the HPGD gene.
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
More info about this panelPachydermoperiostosis , Sequencing HPGD Gene Panel
By Reference Laboratory Genetics
This panel specifically test the HPGD gene.
More info about this panelRheumatoid Type Osteoarthropathy and Related Disorders , Panel Massive Sequencing (NGS) 7 Genes Panel
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
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