ENPP1 gene related symptoms and diseases
All the information presented here about the ENPP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ENPP1 gene
Symptoms // Phenotype | % Cases |
---|---|
Hypertension | Uncommon - Between 30% and 50% cases |
Hypophosphatemic rickets | Uncommon - Between 30% and 50% cases |
Papule | Uncommon - Between 30% and 50% cases |
Generalized arterial calcification | Uncommon - Between 30% and 50% cases |
Arterial calcification | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ENPP1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Congestive heart failure
- Myocardial infarction
Rarely - Less than 30% cases
- Arterial stenosis
- Diabetes mellitus
- Vascular calcification
- Insulin resistance
- Growth delay
- Hyperphosphaturia
And 187 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ENPP1 gene
Here you will find a list of rare diseases related to the ENPP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GENERALIZED ARTERIAL CALCIFICATION OF INFANCY
Alternate names
GENERALIZED ARTERIAL CALCIFICATION OF INFANCY Is also known as idiopathic infantile arterial calcification, infantile arteriosclerosis, occlusive infantile arteriopathy, idiopathic obliterative arteriopathy
Description
Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries.
Most common symptoms of GENERALIZED ARTERIAL CALCIFICATION OF INFANCY
- Hypertension
- Congestive heart failure
- Dilatation
- Papule
- Tachycardia
More info about GENERALIZED ARTERIAL CALCIFICATION OF INFANCY
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1
Alternate names
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 Is also known as iiac, idiopathic infantile arterial calcification, gaci, arteriopathy, occlusive infantile, arterial calcification, idiopathic infantile
Description
Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by Rutsch et al., 2003 and Cheng et al., 2005).
Most common symptoms of ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1
- Short stature
- Hearing impairment
- Failure to thrive
- Hypertension
- Respiratory distress
More info about ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1
SOURCES: OMIM
PSEUDOXANTHOMA ELASTICUM
Alternate names
PSEUDOXANTHOMA ELASTICUM Is also known as pxe, gronblad-strandberg-touraine syndrome, gronblad-strandberg syndrome
Description
Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.
Most common symptoms of PSEUDOXANTHOMA ELASTICUM
- Scoliosis
- Growth delay
- High palate
- Visual impairment
- Hypertension
More info about PSEUDOXANTHOMA ELASTICUM
HYPOPIGMENTATION-PUNCTATE PALMOPLANTAR KERATODERMA SYNDROME
Alternate names
HYPOPIGMENTATION-PUNCTATE PALMOPLANTAR KERATODERMA SYNDROME Is also known as hypopigmentation and punctate keratosis of the palms and soles, cole disease, guttate hypopigmentation and punctate palmoplantar keratoderma, guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification
Description
A rare, genetic, epidermal disease characterized by punctate keratoderma on palms and soles associated with irregularly shaped hypopigmented macules (typically localized on the extremities). Ectopic calcification (e.g. early-onset calcific tendinopathy, calcinosis cutis) and pachyonychia may be occasionally associated.
Most common symptoms of HYPOPIGMENTATION-PUNCTATE PALMOPLANTAR KERATODERMA SYNDROME
- Depressivity
- Hyperkeratosis
- Papule
- Palmoplantar keratoderma
- Hypopigmentation of the skin
More info about HYPOPIGMENTATION-PUNCTATE PALMOPLANTAR KERATODERMA SYNDROME
DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
Alternate names
DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM Is also known as noninsulin-dependent diabetes mellitus, maturity-onset diabetes, diabetes mellitus, type ii, t2d
Most common symptoms of DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
- Diabetes mellitus
- Type II diabetes mellitus
- Insulin resistance
- Type I diabetes mellitus
- Hyperinsulinemia
More info about DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
OBESITY
Description
excessively high accumulation of body fat or adipose tissue in relation to lean body mass; the amount of body fat (or adiposity) includes concern for both the distribution of fat throughout the body and the size of the adipose tissue deposits; individuals are usually at high clinical risk because of excess amount of body fat (BMI greater than 30).
Most common symptoms of OBESITY
- Hypertension
- Obesity
- Hypogonadism
- Diabetes mellitus
- Weight loss
More info about OBESITY
SOURCES: OMIM
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2
Most common symptoms of HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2
- Carious teeth
- Pulmonic stenosis
- Genu valgum
- Genu varum
- Hyperphosphaturia
More info about HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2
AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS
Alternate names
AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS Is also known as arhr
Description
Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
Most common symptoms of AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS
- Seizures
- Short stature
- Growth delay
- Sensorineural hearing impairment
- Muscle weakness
More info about AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS
SOURCES: ORPHANET
Search interest in ENPP1
Potential gene panels for ENPP1 gene
Hypophosphatemic Rickets Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Hypophosphatemic Rickets Deletion/Duplication Panel that also includes the following genes: VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX
More info about this panelHypophosphatemic Rickets Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Hypophosphatemic Rickets Sequencing Panel that also includes the following genes: VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX
More info about this panelENPP1 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ENPP1 gene.
More info about this panelExomePLUS Electrolyte & Kidney Stone Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73
More info about this panelOsteogenesis Imperfecta & Low Bone Mass Disorders Panel Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Osteogenesis Imperfecta & Low Bone Mass Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 CASR SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panelENPP1 mutation analysis Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the ENPP1 gene.
More info about this panelENPP1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ENPP1 gene.
More info about this panelRickets (NGS panel for 10 genes) Panel
By CGC Genetics Rickets (NGS panel for 10 genes) that also includes the following genes: VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX
More info about this panelHypophosphatemic rickets (sequence analysis of ENPP1 gene) Panel
By CGC Genetics
This panel specifically test the ENPP1 gene.
More info about this panelHypophosphatemic rickets, autosomal recessive, 2 Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the ENPP1 gene.
More info about this panelHypophosphatemic Rickets, Autosomal Recessive 2 Panel
By Exeter Molecular Genetics Laboratory
This panel specifically test the ENPP1 gene.
More info about this panelPseudoxanthoma elasticum Panel
By Exeter Molecular Genetics Laboratory Pseudoxanthoma elasticum that also includes the following genes: ENPP1 ABCC6
More info about this panelGeneralized Arterial Calcification of Infancy via ENPP1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ENPP1 gene.
More info about this panelOsteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS
More info about this panelHypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection that also includes the following genes: SLC34A3 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX
More info about this panelGeneralized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Sequencing Panel with CNV Detection that also includes the following genes: ENPP1 ABCC6
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 panelAbnormal mineralization disorders Comprehensive Panel Panel
By Connective Tissue Gene Tests Abnormal mineralization disorders Comprehensive Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1
More info about this panelAbnormal mineralization disorders Deletion/ Duplication Panel Panel
By Connective Tissue Gene Tests Abnormal mineralization disorders Deletion/ Duplication Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1
More info about this panelAbnormal mineralization disorders NGS panel Panel
By Connective Tissue Gene Tests Abnormal mineralization disorders NGS panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1
More info about this panelArterial calcification, generalized, of infancy NGS panel Panel
By Connective Tissue Gene Tests Arterial calcification, generalized, of infancy NGS panel that also includes the following genes: ENPP1 ABCC6
More info about this panelArterial calcification, generalized, of infancy Deletion/ Duplication panel Panel
By Connective Tissue Gene Tests Arterial calcification, generalized, of infancy Deletion/ Duplication panel that also includes the following genes: ENPP1 ABCC6
More info about this panelArterial calcification, generalized, of infancy Comprehensive panel Panel
By Connective Tissue Gene Tests Arterial calcification, generalized, of infancy Comprehensive panel that also includes the following genes: ENPP1 ABCC6
More info about this panelHereditary kidney disorders - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panelEctonucleotide pyrophosphatase / phosphodiesterase 1 (ENPP1) Panel
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the ENPP1 gene.
More info about this panelCole disease Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ENPP1 gene.
More info about this panelArterial calcification type 1, generalized, infantile Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ENPP1 gene.
More info about this panelHypophosphatemic rickets, autosomal recessive type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ENPP1 gene.
More info about this panelIchthyoses and related disorders of cornification Panel Panel
By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL
More info about this panelGenetic disorders with abnormal pigmentation Panel Panel
By CeGaT GmbH Genetic disorders with abnormal pigmentation Panel that also includes the following genes: BLM SLC40A1 SNAI2 SOX10 STK11 TFR2 POFUT1 HAMP ADAM10 LYST
More info about this panelHypophosphatemic rickets Panel Panel
By CeGaT GmbH Hypophosphatemic rickets Panel that also includes the following genes: SLC34A1 VDR CLCN5 SLC34A3 DMP1 ENPP1 FAH FGF23 KL OCRL
More info about this panelSkeletal dysplasia with abnormal mineralization Panel Panel
By CeGaT GmbH Skeletal dysplasia with abnormal mineralization Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1
More info about this panelPseudoxanthoma Elasticum (PXE) gene panel Panel
By Connective Tissue Laboratory Ghent University Hospital Pseudoxanthoma Elasticum (PXE) gene panel that also includes the following genes: ENPP1 GGCX ABCC6
More info about this panelENPP1 mutational analysis Panel
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the ENPP1 gene.
More info about this panelDiabetes / Obesity preventive screening Panel
By Cytogenetics and Molecular Diagnostics Lab CGC Genetics USA Diabetes / Obesity preventive screening that also includes the following genes: ENPP1 MC4R
More info about this panelOsteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel that also includes the following genes: TNFRSF11A TYROBP ZMPSTE24 CASR SERPINH1 ANKH IFITM5 SP7 TREM2 FKBP10
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 panelENPP1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ENPP1 gene.
More info about this panelKidneySeq - 264 Genes Panel
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panelHypophosphatemic Rickets Panel Panel
By Blueprint Genetics Hypophosphatemic Rickets Panel that also includes the following genes: SLC34A1 VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FAH FGF23
More info about this panelAorta Panel Panel
By Blueprint Genetics Aorta Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 ADAMTS10 SLC2A10 CBS
More info about this panelComprehensive Cardiology Panel Panel
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panelSkeletal Dysplasias Core Panel Panel
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
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 panelSkeletal Dysplasia with Abnormal Mineralization Panel Panel
By Blueprint Genetics Skeletal Dysplasia with Abnormal Mineralization Panel that also includes the following genes: SOX9 TNFRSF11A TNFRSF11B VDR SNX10 CASR ANKH FKBP10 P3H1 CLCN5
More info about this panelPalmoplantar Keratoderma Panel Panel
By Blueprint Genetics Palmoplantar Keratoderma Panel that also includes the following genes: WNT10A SERPINB7 MBTPS2 TRPV3 SLURP1 KRT6C CTSC AAGAB DSG1 DSP
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 panelGeneralized arterial calcification of infancy Panel
By Bioarray
This panel specifically test the ENPP1 gene.
More info about this panelHYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS) (AUTOSOMAL RECESSIVE) Panel
By Laboratorio de Genetica Clinica SL HYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS) (AUTOSOMAL RECESSIVE) that also includes the following genes: DMP1 ENPP1
More info about this panelFAMILIAL HYPOPHOSPHATEMIC RICKETS: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL FAMILIAL HYPOPHOSPHATEMIC RICKETS: NGS PANEL that also includes the following genes: SLC34A3 DMP1 ENPP1 FGF23 PHEX
More info about this panelHYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS): NGS PANEL Panel
By Laboratorio de Genetica Clinica SL HYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS): NGS PANEL that also includes the following genes: SLC34A3 DMP1 ENPP1 FGF23 PHEX
More info about this panelHYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE Panel
By Laboratorio de Genetica Clinica SL HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE that also includes the following genes: DMP1 ENPP1
More info about this panelArterial Calcification Generalized of Infancy, Sequencing ENPP1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ENPP1 gene.
More info about this panelHypophosphatemic Rickets , Panel Massive Sequencing (NGS) 7 Genes Panel
By Reference Laboratory Genetics Hypophosphatemic Rickets , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SLC34A3 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX
More info about this panelPseudoxanthoma Elasticum , Panel Massive Sequencing (NGS) 6 Genes Panel
By Reference Laboratory Genetics Pseudoxanthoma Elasticum , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: VEGFA XYLT1 XYLT2 ENPP1 GGCX ABCC6
More info about this panelAbnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes Panel
By Reference Laboratory Genetics Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes that also includes the following genes: SLC34A1 SLC9A3R1 TJP2 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 FAM20C
More info about this panelSevere Obesity (Susceptibility to) , Panel Massive Sequencing (NGS) 18 Genes Panel
By Reference Laboratory Genetics Severe Obesity (Susceptibility to) , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: SDC3 SIM1 UCP1 UCP3 GHRL CARTPT ADRB3 PPARGC1B AGRP ENPP1
More info about this panelIdiopathic Infantile Arterial Calcification: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Idiopathic Infantile Arterial Calcification: gene sequencing panel that also includes the following genes: ENPP1 ABCC6
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