ENPP1 - ectonucleotide pyrophosphatase/phosphodiesterase 1 Gene

Also Known as M6S1; NPP1; NPPS; PC-1; PCA1; ARHR2; COLED; PDNP1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5167

About ENPP1

Cytogenetic location: 6q23.2 Genomic coordinates (GRCh38): 6:131,808,020-131,895,155 (from NCBI)

This gene has 12 transcripts (splice variants), 225 orthologues, 6 paralogues and is associated with 10 phenotypes. Biased expression in placenta (RPKM 22.6), thyroid (RPKM 14.0) and 13 other tissues.

Summary

This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II Transmembrane Glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and Insulin resistance. [provided by RefSeq, Jul 2008]

ENPP1 Products (1)

mRNA Protein Name
NM_006208.3 NP_006199.2 ectonucleotide pyrophosphatase/phosphodiesterase family member 1
Molecular Function GO Annotation Evidence References Source
enables ATP binding IDA
IDA: Inferred from direct assay
7830796 GOA
enables cyclic-GMP-AMP hydrolase activity IDA
IDA: Inferred from direct assay
25344812 GOA
enables dinucleotide phosphatase activity IDA
IDA: Inferred from direct assay
12746903 GOA
enables exonuclease activity IDA
IDA: Inferred from direct assay
22285541 GOA
enables insulin receptor binding IDA
IDA: Inferred from direct assay
7830796 GOA
enables nucleoside triphosphate diphosphatase activity IDA
IDA: Inferred from direct assay
7830796 GOA
enables phosphatase activity IDA
IDA: Inferred from direct assay
28592560 GOA
enables phosphodiesterase I activity IDA
IDA: Inferred from direct assay
27467858 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11289049 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
7830796 GOA
Biological Process GO Annotation Evidence References Source
involved in 3'-phosphoadenosine 5'-phosphosulfate metabolic process IDA
IDA: Inferred from direct assay
7830796 GOA
involved in ATP metabolic process IDA
IDA: Inferred from direct assay
25644539 GOA
involved in bone mineralization IDA
IDA: Inferred from direct assay
28652107 GOA
involved in cellular response to insulin stimulus IDA
IDA: Inferred from direct assay
7830796 GOA
involved in gene expression IDA
IDA: Inferred from direct assay
28592560 GOA
involved in generation of precursor metabolites and energy IDA
IDA: Inferred from direct assay
12746903 GOA
involved in inorganic diphosphate transport IDA
IDA: Inferred from direct assay
10513816 GOA
involved in intracellular phosphate ion homeostasis IDA
IDA: Inferred from direct assay
11159191 GOA
involved in melanocyte differentiation IMP
IMP: Inferred from mutant phenotype
28964717 GOA
involved in negative regulation of D-glucose import IDA
IDA: Inferred from direct assay
17849011 GOA
involved in negative regulation of cell growth IDA
IDA: Inferred from direct assay
17849011 GOA
involved in negative regulation of fat cell differentiation IDA
IDA: Inferred from direct assay
17849011 GOA
involved in negative regulation of glycogen biosynthetic process IDA
IDA: Inferred from direct assay
11289049 GOA
involved in negative regulation of insulin receptor signaling pathway IDA
IDA: Inferred from direct assay
7830796 GOA
involved in negative regulation of protein autophosphorylation IDA
IDA: Inferred from direct assay
11289049 GOA
involved in nucleic acid metabolic process IDA
IDA: Inferred from direct assay
22285541 GOA
involved in nucleoside triphosphate catabolic process IDA
IDA: Inferred from direct assay
10513816 GOA
involved in phosphate ion homeostasis IDA
IDA: Inferred from direct assay
28652107 GOA
involved in phosphate-containing compound metabolic process IDA
IDA: Inferred from direct assay
10513816 GOA
involved in response to ATP IDA
IDA: Inferred from direct assay
25644539 GOA
involved in sequestering of triglyceride IDA
IDA: Inferred from direct assay
17849011 GOA
Cellular Component GO Annotation Evidence References Source
located in cell surface IDA
IDA: Inferred from direct assay
10513816 GOA
located in extracellular space IDA
IDA: Inferred from direct assay
11159191 GOA
is active in plasma membrane IDA
IDA: Inferred from direct assay
25644539 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
10513816 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ENPP1 Protein Structure

Somatomedin_B

Somatomedin_B: Somatomedin B domain (106 - 142)

Somatomedin_B

Somatomedin_B: Somatomedin B domain (147 - 188)

Phosphodiest

Phosphodiest: Type I phosphodiesterase / nucleotide pyrophosphatase (212 - 538)

Endonuclease_NS

Endonuclease_NS: DNA/RNA non-specific endonuclease (677 - 902)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 925 a.a.
Protein Preferred Names Protein Names

ectonucleotide pyrophosphatase/phosphodiesterase family member 1

  • E-NPP 1

ENPP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ENPP1 P22413 ABCG2 Homo sapiens Q9UNQ0
PLA
26065921
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ENPP1 Proteins

Cat. No. Product Name Accession Purity
HY-P77923 ENPP-1 Protein, Human (HEK293, His) P22413 (K98-D925) ≥ 95%, as determined by Bis-Tris PAGE.
HY-P700956 ENPP-1 Protein, Human (Biotinylated, HEK293, His-Avi) P22413 (K98-D925) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Cole Disease
  • Hypopigmentation-Punctate Palmoplantar Keratoderma Syndrome

  • COLED

  • Guttate Hypopigmentation And Punctate Palmoplantar Keratoderma With Or Without Ectopic Calcification

  • Guttate Hypopigmentation

  • Punctate Palmoplantar Keratoderma With Or Without Ectopic Calcification

  • Guttate Hypopigmentation And Punctate Palmoplantar Keratoderma

  • Hypopigmentation And Punctate Keratosis Of The Palms And Soles

  • Col

  • Hypopigmentation Disorder

  • Albinoidism, Oculocutaneous, Autosomal Dominant

Hypophosphatemic Rickets, Autosomal Recessive, 2
  • ARHR2

  • Hypophosphatemia Autosomal Recessive

  • Rickets, Hypophosphatemic, Autosomal Recessive, Type 2

Arterial Calcification, Generalized, Of Infancy, 1
  • GACI1

  • Gaci

  • Idiopathic Infantile Arterial Calcification

  • Iiac

  • Arterial Calcification, Idiopathic Infantile

  • Arteriopathy, Occlusive Infantile

  • Arterial Calcification Of Infancy, Generalized, 1

  • Generalized Arterial Calcification Of Infancy

  • Occlusive Infantile Arteriopathy

  • Calcification, Arterial, Generalized, Infancy, Type 1

  • Arterial Calcification Of Infancy

  • Vascular Calcification

Arterial Calcification Of Infancy
  • Idiopathic Infantile Arterial Calcification

  • Generalized Arterial Calcification Of Infancy

  • Iiac

  • Occlusive Infantile Arteriopathy

  • Infantile Arteriosclerosis

  • Gaci

  • Idiopathic Obliterative Arteriopathy

  • Generalized Arterial Calcification In Infancy

  • Arteriopathia Calcificans Infantum

  • Diffuse Arterial Calcifying Elastopathy Of Infancy

  • Infantile Calcifying Arteriopathy

  • Medial Coronary Sclerosis Of Infancy

  • Coronary Sclerosis, Medial, Of Infancy

  • Calcification, Arterial, Generalized, Infancy

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Autosomal Recessive Hypophosphatemic Rickets
  • Arhr

  • Hypophosphatemic Rickets, Autosomal Recessive

  • Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets

Ossification Of The Posterior Longitudinal Ligament Of Spine
  • OPLL

  • Ossification Of The Posterior Longitudinal Ligament Of The Spine

  • Ossification Of Posterior Longitudinal Ligament Of Spine

  • Ossification, Posterior Longitudinal Ligament Spine

Pseudoxanthoma Elasticum
  • PXE

  • Gronblad-Strandberg Syndrome

  • Pseudoxanthoma Elasticum, Modifier Of Severity Of

  • Gronblad-Strandberg-Touraine Syndrome

  • Gronblad Strandberg Syndrome

  • Groenblad-Strandberg Syndrome

  • Nevus Elasticus

  • Pxe - [Pseudoxanthoma Elasticum]

Hypercementosis
  • Cementation Hyperplasia

Chondrocalcinosis
  • Pseudogout

  • Calcium Pyrophosphate Deposition Disease

  • Familial Chondrocalcinosis

  • Chondrocalcinosis Nos

  • Cppd - [Calcium Pyrophosphate Deposition Disease]

  • Cpdd - [Calcium Pyrophosphate Deposition Disease]

  • Chondrocalcinosis, Due To Pyrophosphate Crystals, Involving Unspecified Site

  • Chondrocalcinosis, Cause Unspecified

  • Chondrocalcinosis Due To Pyrophosphate Crystals

  • Chondrocalcinosis Articularis

  • Calcium Pyrophosphate Arthritis And Periarthritis

Hypophosphatemic Rickets, X-Linked Recessive
  • Hypophosphatemic Rickets

  • X-Linked Recessive Hypophosphatemic Rickets

  • XLRHR

  • Hypophosphatemic Rickets Disorders

  • Rickets Hypophosphatemic

  • Rickets, Hypophosphatemic, X-Linked Recessive

  • Familial Hypophosphatemic Rickets

Rickets
  • Vitamin D Deficiency

  • Vitamin D

  • Active Rickets

  • Hypovitaminosis D

  • Nutritional Rickets

  • Vitamin D Deficiency Disease

  • Vitamin-D Deficiency Rickets

  • Vitamin D-Dependent Rickets

  • Avitaminosis D

  • Infantile Osteomalacia

  • Juvenile Osteomalacia

Hypophosphatasia
  • Phosphoethanolaminuria

  • Childhood Hypophosphatasia

  • Deficiency Of Alkaline Phosphatase

  • Hypophospatasia, Childhood

  • Hypophosphatasia Mild

  • Phosphoethanol-Aminuria

  • Rathburn Disease

  • Hpp

  • Rathbun Disease

  • Hypophosphatasia, Childhood

  • Infantile Hypophosphatasia

Hypophosphatemia
  • Vitamin D-Resistant Rickets

  • Hereditary Hypophosphatemic Rickets

  • Vdrr

  • Vitamin D Resistant Rickets

  • Hypophosphatemic Rickets, X-Linked Dominant

  • Familial Hypophosphatemic Rickets

Calcinosis
  • Pathologic Calcification

  • Pathologically Calcified Structure

Diabetes Mellitus
  • Diabetes

Craniometaphyseal Dysplasia, Autosomal Dominant
  • Craniometaphyseal Dysplasia

  • CMDD

  • Cmdj

  • Cmd

  • Autosomal Dominant Craniometaphyseal Dysplasia

  • Craniometaphyseal Dysplasia, Jackson Type

  • Craniometaphyseal Dysplasia Jackson Type

  • Autosomal Recessive Craniometaphyseal Dysplasia

  • Cmdr

  • Dysplasia, Craniometaphyseal, Autosomal Dominant

  • Craniometaphyseal Dysplasia, Autosomal Recessive Type

Calcification Of Joints And Arteries
  • Hereditary Arterial And Articular Multiple Calcification Syndrome

  • CALJA

  • Arterial Calcification Due To Cd73 Deficiency

  • Arterial Calcification Due To Deficiency Of Cd73

  • Acdc

  • Arterial Calcification And Distal Joint Calcification

  • Arterial Calcification Due To Deficiency Of Cd73:Acdc

  • Calcification Of Joints And Arteries

  • Calja

Glucose Intolerance
  • Glucose: Intolerance

  • Glucose: Malabsorption

  • Malabsorption Of Glucose

  • Impaired Glucose Tolerance

Osseous Heteroplasia, Progressive
  • Progressive Osseous Heteroplasia

  • POH

  • Osteoma Cutis

  • Familial Ectopic Ossification

  • Ectopic Ossification Familial Type

  • Ectopic Ossification

  • Heterotopic Ossification

  • Ectopic Ossification, Familial

  • Cutaneous Ossification

  • Myositis Ossificans Progressiva

  • Osteodermia

  • Osteosis Cutis

  • Ossification Heterotopic

  • Heteroplasia, Osseous, Progressive

  • Fibrodysplasia Ossificans Progressiva

Hypophosphatasia, Adult
  • Adult Hypophosphatasia

  • Odontohypophosphatasia

  • Hypophosphatasia, Mild

  • HPPA

  • Hypophosphatasia

  • Mild Hypophosphatasia

  • Adult Rathbun Disease

  • Adult Phosphoethanolaminuria

  • HOPS

Osteomalacia
  • Adult Rickets

Uremia
  • Uremia Of Renal Origin

Enthesopathy
  • Rheumatism

Gestational Diabetes
  • Gestational Diabetes Mellitus

  • GDM

  • Diabetes Mellitus Arising In Pregnancy

  • Maternal Gestational Diabetes Mellitus

  • Diabetes Mellitus, Gestational

  • Diabetes Mellitus, Pregnancy Related

  • Diabetes, Pregnancy-Induced

  • Diabetes Gestational

  • Diabetes, Gestational

  • Diabetes Of Pregnancy

  • Gdm - [Gestational Diabetes Mellitus]

  • Gestational Diabetes Mellitus Nos

  • Gestational Diabetes Complicating Pregnancy, Childbirth, Or The Puerperium

Angioid Streaks
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
  • Polycystic Kidney Disease 1

  • PKD1

  • Adpkd

  • Polycystic Kidney Disease, Adult, Type I

  • Apkd1

  • Potter Type Iii Polycystic Kidney Disease

  • Polycystic Kidney Disease, Adult

  • Potter Type Iii Polycystic Kidney Disease, Formerly

  • Polycystic Kidney Disease, Type 1

  • Adpkd1

  • Adult Polycystic Kidney Disease Type 1

  • Autosomal Dominant Polycystic Kidney Disease 1

  • Pkd-1

  • Polycystic Kidney Disease Adult

  • Polycystic Kidney Disease Type I

  • Polycystic Kidneys

  • Polycystic Kidney Disease, Adult Type I

  • Polycystic Kidney Type 1 Autosomal Dominant Disease

  • Kidney Disease, Polycystic, Type 1

  • Polycystic Kidney, Autosomal Dominant

  • Polycystic Kidney, Type 1 Autosomal Dominant Disease

  • Polycystic Kidney Diseases

Polycystic Kidney Disease
  • Polycystic Kidney Diseases

  • Pkd

  • Polycystic Renal Disease

  • Kidney Disease, Polycystic

  • Polycystic Kidney, Autosomal Dominant

Hypophosphatemic Rickets With Hypercalciuria, Hereditary
  • Hereditary Hypophosphatemic Rickets With Hypercalciuria

  • HHRH

  • Hypophosphatemic Rickets With Hypercalciuria

  • Hypercalciuric Rickets

Hypophosphatemic Rickets, Autosomal Dominant
  • Autosomal Dominant Hypophosphatemic Rickets

  • ADHR

  • Autosomal Dominant Hypophosphatemia

  • Vitamin D-Resistant Rickets, Autosomal Dominant

  • Hypophosphatemia, Autosomal Dominant

  • Autosomal Dominant Vitamin D-Resistant Rickets

  • Rickets, Hypophosphatemic, Autosomal Dominant

Osteoglophonic Dysplasia
  • Osteoglophonic Dwarfism

  • OGD

  • Fairbank-Keats Syndrome

  • Osteoglosphonic Dysplasia

  • Dysplasia, Osteoglophonic

Kidney Disease
  • Renal Failure

  • Kidney Failure

  • Kidney Diseases

  • Nephropathy

  • Abnormality Of The Kidney

  • Impaired Renal Function Disease

  • Renal Anomaly

  • Kidney Dysfunction

  • Renal Disease

  • Nephropathies

  • Renal Failure Adverse Event

  • Abnormal Renal Function

Craniosynostosis
  • Premature Closure Of Cranial Sutures

  • Craniostenosis

  • Craniosynostosis Syndrome

  • Cso

  • Craniosynostoses

  • Congenital Ossification Of Cranial Sutures

  • Congenital Ossification Of Sutures Of Skull

  • Craniostosis

  • Imperfect Fusion Of Skull

  • Congenital Imperfect Closure Skull

  • Imperfect Closure Skull

  • Premature Closure Cranium Sutures

  • Deficiency Of Craniofacial Axis

Hypophosphatemic Rickets, X-Linked Dominant
  • X-Linked Hypophosphatemia

  • Xlh

  • Vitamin D-Resistant Rickets, X-Linked

  • X-Linked Hypophosphatemic Rickets

  • XLHR

  • Hyp

  • Hypophosphatemic Vitamin D-Resistant Rickets

  • Hpdr

  • X-Linked Dominant Hypophosphatemic Rickets

  • Familial Hypophosphatemic Rickets

  • Hypophosphatemia, X-Linked

  • Hypophosphatemia, Vitamin D-Resistant Rickets

  • Hypophosphatemic Rickets X-Linked Dominant

  • X-Linked Vitamin D-Resistant Rickets

  • Hypophophatemia, X-Linked

  • Hypophophatemic Vitamin D-Resistant Rickets

  • Hypophosphatemia X-Linked

  • Vitamin D-Resistant Rickets X-Linked

  • Vitamin D-Resistant Rickets

  • Rickets, X-Linked Hypophosphatemic

Hypophosphatasia, Childhood
  • Childhood Hypophosphatasia

  • Childhood-Onset Hypophosphatasia

  • HPPC

  • Childhood-Onset Phosphoethanolaminuria

  • Childhood-Onset Rathburn Disease

  • Childhood-Onset Rathbun Disease

Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
  • Hypophosphatemic Nephrolithiasis/Osteoporosis 1

  • NPHLOP1

  • Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1

  • Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 1

Schimmelpenning-Feuerstein-Mims Syndrome
  • Nevus Sebaceus Of Jadassohn

  • Organoid Nevus Phakomatosis

  • Linear Nevus Sebaceous Syndrome

  • Sfm Syndrome

  • Jadassohn Nevus Phakomatosis

  • Jnp

  • Schimmelpenning Syndrome

  • Solomon Syndrome

  • SFM

  • Linear Sebaceous Nevus Syndrome

  • Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

  • Nevus Sebaceus Syndrome

  • Organoid Nevus Syndrome

  • Schimmelpenning Feuerstein Mims Syndrome

  • Sebaceous Nevus Syndrome, Linear

  • Epidermal Nevus Syndrome, Formerly

  • Sebaceous Nevus Syndrome Linear

  • Linear Nevus Sebaceus Syndrome

  • Epidermal Nevus Syndrome

  • Ss

  • Nevus Sebaceous

Dental Abscess
Ankylosis
Tooth Ankylosis
  • Ankylosis Of Teeth

  • Ankylosis Of Tooth

Phosphorus Metabolism Disease
  • Phosphorus Metabolism Disorders

  • Disorder Of Phosphorus Metabolism

  • Phosphorus Disorder

  • Phosphorus Metabolism Disorder

Diffuse Idiopathic Skeletal Hyperostosis
  • Hyperostosis, Diffuse Idiopathic Skeletal

  • Ankylosing Vertebral Hyperostosis

  • Dish

  • Disseminated Idiopathic Skeletal Hyperostosis

  • Forestier Disease

  • Forestier'S Disease

  • Hyperostosis Diffuse Idiopathic Skeletal

Vitamin D-Dependent Rickets
  • Vddr

Polycystic Liver Disease 1 With Or Without Kidney Cysts
  • Polycystic Liver Disease 1

  • PCLD1

  • Cyst

  • Liver Disease, Polycystic, Type 1

  • Polycystic Liver Disease

Metaphyseal Chondrodysplasia, Jansen Type
  • Metaphyseal Chondrodysplasia, Murk Jansen Type

  • Jansen'S Metaphyseal Chondrodysplasia

  • MCDJ

  • Murk Jansen Type Metaphyseal Chondrodysplasia

  • Jansen Type Metaphyseal Chondrodysplasia

  • Jansen Disease

  • Jansen Metaphyseal Chondrodysplasia

  • Jansen Metaphyseal Dysostosis

  • Metaphyseal Chondrodysplasia Murk Jansen Type

  • Chondrodysplasia, Metaphyseal, Murk Jansen Type

Hypophosphatemic Nephrolithiasis/Osteoporosis
  • Nephrolithiasis/Osteoporosis, Hypophosphatemic

Tumoral Calcinosis, Normophosphatemic, Familial
  • Normophosphatemic Familial Tumoral Calcinosis

  • NFTC

  • Tumoral Calcinosis, Familial, Normophosphatemic

  • Calcinosis, Tumoral, With Normophosphatemia

  • Familial Normophosphatemic Tumoral Calcinosis

  • Tumoral Calcinosis With Normophosphatemia

Vitamin D Hydroxylation-Deficient Rickets, Type 1b
  • VDDR1B

  • Vitamin D-Dependent Rickets Type 1b

  • Vitamin D-Dependent Rickets, Type 1b

  • 25-Hydroxyvitamin D3 Deficiency, Selective

  • Pseudovitamin D3 Deficiency Rickets Due To 25-Hydroxylase Deficiency

  • Rickets Due To Defect In Vitamin D 25-Hydroxylation Deficiency

  • Rickets Vitamin D-Dependent 1b

  • 25-Hydroxyvitamimn D3 Deficiency Selective

  • 25-Hydroxyvitamin D(3) Deficiency

  • Pseudovitamin D(3) Deficiency Rickets Due To 25-Hydroxylase Deficiency

  • Selective 25-Hydroxyvitamin D(3) Deficiency

  • Rickets Due To Defect In Vitamin D 25-Hydroxylation

Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
  • Hyperphosphatemic Familial Tumoral Calcinosis

  • Hftc

  • Hyperostosis-Hyperphosphatemia Syndrome

  • Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome

  • Tumoral Calcinosis, Hyperphosphatemic, Familial

  • Phptc

  • Lipocalcinogranulomatosis

  • Morbus Teutschlaender

  • Hhs

  • Hyperostosis With Hyperphosphatemia

  • Cortical Hyperostosis With Hyperphosphatemia

  • Primary Hyperphosphatemic Tumoral Calcinosis

  • Familial Tumoral Calcinosis

  • HFTC1

  • Hypercalcemic Tumoral Calcinosis

  • Hyperphosphatemia Hyperostosis

  • Hyperphosphatemia Hyperostosis Syndrome

  • Hyperphosphatemia Tumoral Calcinosis

  • Tumoral Calcinosis

  • Calcinosis, Tumoral, With Hyperphosphatemia

  • Tumoral Calcinosis, Primary Hyperphosphatemic

  • Teutschlaender Disease, Familial

  • Familial Teutschlaender Disease

  • Tumoral Calcinosis With Hyperphosphatemia

  • Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

  • Ftc/Hhs

  • Familial Tumoral Calcinosis With Hyperphosphatemia

  • Teutschlaender Disease

  • Tumoral Calcinosis Primary Hyperphosphatemic

  • Calcinosis, Tumoral, Hyperphosphatemic, Familial

Vitamin D-Dependent Rickets, Type 2a
  • Hvdrr

  • Generalized Resistance To 1,25-Dihydroxyvitamin D

  • Hypocalcemic Vitamin D-Resistant Rickets

  • VDDR2A

  • Rickets, Hereditary Vitamin D-Resistant

  • Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol

  • Pddr Iia

  • Rickets-Alopecia Syndrome

  • Rickets, Vitamin D-Resistant, Type Iia

  • Vitamin D-Dependent Rickets Type 2a

  • Vitamin D-Dependent Rickets, Type 2

  • Vitamin D-Dependent Rickets, Type 2a, With Or Without Alopecia

  • Generalized 1,25-Dihydroxyvitamin D

  • Pseudovitamin D-Deficiency, Type Iia

  • Hereditary Vitamin D-Resistant Rickets

  • Vddr Ii

  • Vdrr Ii

  • Vitamin D-Dependent Rickets Type Ii

  • Vitamin D-Resistant Rickets Type Ii

  • Rickets Vitamin D-Dependent 2a

  • Pseudovitamin D-Deficiency Type Iia

  • Rickets Hereditary Vitamin D-Resistant

  • Type Iia Rickets

  • Vitamin D-Dependent Rickets Type 2a With Or Without Alopecia

  • Vitamin D-Dependent Rickets, Type Ii

  • Familial Hypophosphatemic Rickets

  • Hypophosphatemic Rickets, X-Linked Dominant

Type 1 Diabetes Mellitus
  • Diabetes Mellitus, Insulin-Dependent

  • Diabetes Mellitus Type 1

  • IDDM

  • Type 1 Diabetes

  • Insulin-Dependent Diabetes Mellitus

  • T1D

  • Juvenile-Onset Diabetes

  • Jod

  • Diabetes Mellitus, Type 1

  • Diabetes Mellitus, Insulin-Dependent-1

  • Type I Diabetes Mellitus

  • Autoimmune Diabetes

  • Juvenile Diabetes

  • Juvenile-Onset Diabetes Mellitus

  • Diabetes, Insulin Dependent

  • Insulin-Dependent Diabetes Mellitus-1

  • Diabetes Mellitus Insulin-Dependent

  • Diabetes Autoimmune

  • Diabetes Mellitus, Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 1, Susceptibility To

  • Diabetes Type 1

  • Type I Diabetes

  • Diabetes, Autoimmune

  • T1dm - [Type 1 Diabetes Mellitus]

  • Iddm - [Insulin Dependent Diabetes Mellitus]

  • Type 1 Iddm

  • Juvenile Diabetes Mellitus Without Compications

  • Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

  • Juvenile-Onset Diabetes Mellitus Without Compications

  • Ketosis-Prone Diabetes Mellitus Without Compications

  • Juvenile-Onset-Type Diabetes Mellitus Without Compications

Cystic Kidney Disease
  • Renal Cyst

  • Simple Renal Cyst

  • Kidney Cysts

  • Kidney Diseases, Cystic

  • Renal Cysts

  • Kidney Cyst

  • Cystic Kidney

  • Congenital Cystic Kidney Disease

  • Cystic Kidney Diseases

  • Bosniak 1 Cyst

Mineral Metabolism Disease
  • Mineral Metabolism Disorder

  • Disorder Of Mineral Metabolism

Myocardial Infarction
  • Heart Attack

  • Myocardial Infarction, Susceptibility To

  • Myocardial Infarction 1

  • Myocardial Infarction, Protection Against

  • Myocardial Infarction, Decreased Susceptibility To

  • Myocardial Infarction, Decreased

  • Myocardial Infarct

  • MCI1

  • Premature Myocardial Infarction

  • Myocardial Infarction, Susceptibility To, Type 1

Nevus, Epidermal
  • Epidermal Nevus

  • Woolly Hair Nevus

  • Epidermal Naevus

  • Epidermal Nevus Syndrome

  • Nevus, Keratinocytic, Nonepidermolytic

  • Epidermal Nevus, Somatic

  • Nevus, Epidermal, Somatic

  • Nevus Sebaceous Or Woolly Hair Nevus, Somatic

  • Nonepidermolytic Keratinocytic Nevus

  • Epidermal Hamartoma Syndrome

  • Wooly Hair Nevus

  • Keratinocytic Non-Epidermolytic Nevus

  • KNEN

  • Pigmented Moles

  • Organoid Nevus Phakomatosis

  • Nevus Sebaceous

  • Melanocytic Nevus

  • Melanocytic Nevus Of Skin

Osteoporosis
  • Postmenopausal Osteoporosis

  • Osteoporosis, Postmenopausal

  • Bone Mineral Density Quantitative Trait Locus

  • Bmnd

  • Osteoporosis, Involutional

  • Osteoporosis, Susceptibility To

  • Osteoporosis, Postmenopausal, Susceptibility

  • Bone Mineral Density Variation Qtl, Osteoporosis

  • OSTEOP

  • Involutional Osteoporosis

  • Senile Osteoporosis

  • Osteoporosis Postmenopausal

  • Bone Mineral Density, Quantitative Trait Locus

  • Osteoporosis, Senile

  • Idiopathic Osteoporosis

  • Bone Rarefaction Nos

  • Type 1 Osteoporosis

Chronic Kidney Disease
  • Chronic Renal Disease

  • Chronic Kidney Failure

  • Ckd

  • Chronic Renal Failure

  • Kidney Failure, Chronic

  • Chronic Renal Failure Syndrome

  • Crf

  • Renal Failure - Chronic

  • Renal Failure Chronic

  • Chronic Kidney Diseases

  • Chronic Kidney Disease Stage 5

  • Ckd - [Chronic Kidney Disease]

  • Crf - [Chronic Renal Failure]

  • Chronic Kidney Impairment

  • Chronic Renal Impairment

  • Chronic Kidney Shutdown

  • Chronic Hypoxic Kidney Failure

  • Chronic Kidney Collapse

  • Chronic Renal Insufficiency

  • Chronic Kidney Toxaemia

  • Chronic Kidney Hypofunction

  • Chronic Renal Suppression

  • Chronic Renal Failure, Stage 5

  • Ckd - [Chronic Kidney Disease] Stage 5

  • End Stage Kidney Failure

  • End Stage Renal Failure

  • End Stage Kidney Disease

  • End Stage Renal Disease

  • End Stage Chronic Renal Failure

  • Esrf - [End Stage Renal Failure]

  • Esrd - [End Stage Renal Diseases]

  • Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Fanconi Syndrome
  • Infantile Nephropathic Cystinosis

  • Adult Fanconi Syndrome

  • Congenital Fanconi Syndrome

  • De Toni-Fanconi Syndrome

  • Fanconi-De Toni Syndrome

  • Lignac-Fanconi Syndrome

  • Fanconi Renotubular Syndrome

  • Primary Fanconi Renotubular Syndrome

  • De Toni-Debre-Fanconi Syndrome

  • Adult Fanconi Anemia

  • Detoni Fanconi Syndrome

  • Fanconi-De-Toni Syndrome

  • Primary Fanconi Syndrome

  • Detoni-Debre-Fanconi Syndrome

  • Primary Fanconi Renal Syndrome

  • Fanconi Anemia

  • Cystinosis, Infantile Nephropathic

  • Fanconi-Bickel Syndrome

  • Renal Fanconi Syndrome

  • Lowe-Bickel Syndrome

Osteochondrodysplasia
  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus ENPP1 VGNC VGNC:28504
Rattus norvegicus ENPP1 RGD RGD:628825
Macaca mulatta ENPP1 VGNC VGNC:72222
Canis familiaris ENPP1 VGNC VGNC:40374
Mus musculus ENPP1 MGD MGI:97370
Felis catus ENPP1 VGNC VGNC:61872
Others ENPP1 NCBI