UMOD - uromodulin Gene

Also Known as THP; FJHN; HNFJ; THGP; HNFJ1; MCKD2; ADTKD1; ADMCKD2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7369

About UMOD

Cytogenetic location: 16p12.3 Genomic coordinates (GRCh38): 16:20,333,051-20,356,301 (from NCBI)

This gene has 12 transcripts (splice variants), 107 orthologues, 5 paralogues and is associated with 2 phenotypes. Restricted expression toward kidney (RPKM 990.9).

Summary

The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]

UMOD Products (8)

mRNA Protein Name
NM_001008389.3 NP_001008390.1 uromodulin isoform a preproprotein
NM_001278614.2 NP_001265543.1 uromodulin isoform b preproprotein
NM_001378232.1 NP_001365161.1 uromodulin isoform a preproprotein
NM_001378233.1 NP_001365162.1 uromodulin isoform a preproprotein
NM_001378234.1 NP_001365163.1 uromodulin isoform c preproprotein
NM_001378235.1 NP_001365164.1 uromodulin isoform c preproprotein
NM_001378237.1 NP_001365166.1 uromodulin isoform d preproprotein
NM_003361.4 NP_003352.2 uromodulin isoform a preproprotein
Molecular Function GO Annotation Evidence References Source
enables IgG binding IDA
IDA: Inferred from direct assay
20798515 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32045104 GOA
Biological Process GO Annotation Evidence References Source
involved in antibacterial innate immune response IDA
IDA: Inferred from direct assay
32616672 GOA
involved in defense response to Gram-negative bacterium IDA
IDA: Inferred from direct assay
32616672 GOA
involved in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IDA
IDA: Inferred from direct assay
20798515 GOA
involved in leukocyte cell-cell adhesion IDA
IDA: Inferred from direct assay
20798515 GOA
involved in neutrophil migration IDA
IDA: Inferred from direct assay
20798515 GOA
Cellular Component GO Annotation Evidence References Source
located in apical plasma membrane IDA
IDA: Inferred from direct assay
7028707 GOA
located in basolateral plasma membrane IDA
IDA: Inferred from direct assay
7028707 GOA
located in cilium IDA
IDA: Inferred from direct assay
20172860 GOA
located in membrane IDA
IDA: Inferred from direct assay
2249987 GOA
located in spindle pole IDA
IDA: Inferred from direct assay
20172860 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

UMOD Protein Structure

EGF_3

EGF_3: EGF domain (34 - 63)

EGF_CA

EGF_CA: Calcium-binding EGF domain (65 - 99)

EGF_CA

EGF_CA: Calcium-binding EGF domain (108 - 148)

Zona_pellucida

Zona_pellucida: Zona pellucida-like domain (334 - 584)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 640 a.a.
Protein Preferred Names Protein Names

uromodulin

  • Tamm-Horsfall urinary glycoprotein

Related Diseases

Diseases Alias
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
  • Familial Juvenile Hyperuricemic Nephropathy

  • Mckd2

  • Familial Juvenile Hyperuricemic Nephropathy Type 1

  • Fjhn

  • Medullary Cystic Kidney Disease 2

  • Uromodulin-Associated Kidney Disease

  • Medullary Cystic Kidney Disease Type 2

  • ADTKD1

  • Hnfj1

  • Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria

  • Adtkd-Umod

  • Familial Juvenile Hyperuricemic Nephropathy 1

  • Umod-Related Adtkd

  • Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease

  • Hyperuricemic Nephropathy, Familial Juvenile, 1

  • Gouty Nephropathy, Familial Juvenile

  • Medullary Cystic Kidney Disease 2, Autosomal Dominant

  • Admckd2

  • Autosomal Dominant Tubulointerstitial Kidney Disease Due To Umod Mutations

  • Adtkd Due To Umod Mutations

  • Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related

  • Autosomal Dominant Medullary Cystic Kidney Disease Type 2

  • Umod-Associated Kidney Disease

  • Uromodulin Kidney Disease

  • Familial Gout-Kidney Disease

  • Familial Gouty Nephropathy

  • Umak

  • Umod-Related Kidney Disease

  • Uromodulin Storage Disease

  • Fjhn1

  • Gouty Nephropathy Familial Juvenile

  • Nephropathy Familial With Gout

  • Hyperuricemic Nephropathy, Familial Juvenile 1

  • Hyperuricemic Nephropathy, Familial Juvenile

  • Kidney Disease, Glomerulocystic, With Hyperuricemia And Isosthenuria

  • Nephropathy, Hyperuricemic, Juvenile, Familial, Type 1

  • Kidney Disease, Cystic, Medullary, Type 2

  • Medullary Cystic Kidney Disease Type Ii

  • Familial Juvenile Gout

Hyperuricemia
  • Blood Urate Raized

  • Uricacidemia

Gout
  • Gouty Arthritis

  • Articular Gout

  • Gouty Arthropathy

  • Arthritis, Gouty

  • Arthritis Gouty

  • Idiopathic Gout

  • Idiopathic Gout, Unspecified Site

  • Gouty Bursitis

  • Uratic Arthritis

  • Gout Nos

  • Gouty

  • Gouty Diathesis

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

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

Urinary Tract Infection
  • Urinary Tract Infections

  • Uti

  • Urinary Tract Infection Nos

  • Uti - [Urinary Tract Infection]

  • Uti Nos - [Urinary Tract Infection Nos]

  • Urosepsis Nos

  • E Coli Uti

  • E Coli Urinary Tract Infection

  • Escherichia Coli Uti

Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
  • Medullary Cystic Kidney Disease 1

  • Mckd1

  • Mckd

  • Medullary Cystic Kidney Disease Type 1

  • Autosomal Dominant Tubulointerstitial Kidney Disease

  • ADTKD2

  • Admckd1

  • Polycystic Kidneys, Medullary Type

  • Adtkd

  • Autosomal Dominant Medullary Cystic Kidney Disease

  • Adtkd-Muc1

  • Muc1-Related Autosomal Dominant Tubulointerstitial Kidney Disease

  • Muci-Related Adtkd

  • Medullary Cystic Kidney Disease

  • Medullary Cystic Kidney Disease Type I

  • Medullary Cystic Kidney Disease, Autosomal Dominant

  • Autosomal Dominant Tubulointerstitial Kidney Disease Due To Muc1 Mutations

  • Adtkd Due To Muc1 Mutations

  • Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Associated

  • Muc1-Related Autosomal Dominant Medullary Cystic Kidney Disease

  • Mucin-1 Kidney Disease

  • Autosomal Dominant Interstitial Kidney Disease

  • Familial Juvenile Hyperuricemic Nephropathy

  • Muc1-Related Medullary Cystic Kidney Disease

  • Autosomal Dominant Medullary Cystic Kidney Disease 1

  • Medullary Polycystic Kidneys

  • Medullary Cystic Kidney Disease 1, Autosomal Dominant

  • Kidney Disease, Cystic, Medullary, Type 1

  • Nephronophthisis - Medullary Cystic Disease

Interstitial Nephritis
  • Nephritis, Interstitial

  • Renal Tubulo-Interstitial Disease

  • Nephritis Interstitial

  • Nephritis, Tubulointerstitial

Cystitis
  • Infective Cystitis

  • Urocystitis

  • Pyocystitis

Urinary Tract Obstruction
  • Obstructive Uropathy

  • Urinary Obstruction

  • Urologic Diseases

Chronic Pyelonephritis
Nephrolithiasis, Calcium Oxalate
  • Kidney Stones

  • Calculus Of Kidney

  • Kidney Calculi

  • Nephrolithiasis

  • Renal Calculi

  • Calcium Oxalate Urolithiasis

  • CAON

  • Urolithiasis, Calcium Oxalate

  • Calcium Oxalate Nephrolithiasis

  • Kidney Stone

  • Nephrolith

  • Renal Calculus

  • Urinary Stones

  • Renal Stone

  • Calculus, Kidney

  • Calculus, Renal

  • Renal Lithiasis

  • Renal Stones

  • Urolithiasis

  • Renal Calculus Or Stone

  • Stone In Kidney

  • Nephritic Calculus

  • Multiple Kidney Calculi

  • Multiple Kidney Calculus

  • Nephrolithiasis Nos

  • Pelvic Nephrolithiasis

  • Pelviolithiasis

  • Pelvis Nephrolithiasis

Urolithiasis
Acute Kidney Tubular Necrosis
  • Acute Tubular Necrosis

  • Acute Renal Failure With Tubular Necrosis

  • Acute Tubule Necrosis

  • Acute Renal Failure With Lesion Of Tubular Necrosis

  • Atn - Acute Tubular Necrosis

  • Tubular Necrosis Acute

  • Kidney Tubular Necrosis, Acute

  • Acute Renal Tubular Necrosis

  • Acute Tubular Nephrosis

  • Ischaemic Acute Tubular Necrosis

  • Ischaemic Tubular Necrosis

  • Kidney Tubular Necrosis

  • Lower Nephron Nephrosis

  • Necrotising Renal Oedema

  • Renal Tubular Necrosis

  • Toxic Tubular Necrosis

  • Tubular Kidney Necrosis

  • Tubular Necrosis Nos

  • Tubular Nephrosis

Urinary System Disease
  • Abnormality Of The Urinary System

  • Non-Neoplastic Urinary Tract Disease

  • Urinary Tract Disease

  • Urinary Tract Diseases

  • Urinary Tract Anomaly

  • Urologic Diseases

  • Non-Neoplastic Urinary System Disorder

  • Congenital Malformation Of The Urinary System

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

Nephrolithiasis
  • Kidney Stones

  • Stone - Kidney/Ureter

  • Kidney Calculi

Vesicoureteral Reflux
  • Vesico-Ureteral Reflux

Bartter Disease
  • Bartter Syndrome

  • Bartter'S Syndrome

  • Aldosteronism With Hyperplasia Of The Adrenal Cortex

  • Hypokalemic Alkalosis With Hypercalciuria

  • Potassium Wasting

  • Juxtaglomerular Hyperplasia With Secondary Aldosteronism

  • Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria

  • Salt-Losing Tubular Disorder, Henle'S Loop Type

  • Salt-Wasting Tubulopathy, Henle'S Loop Type

  • Bartters Syndrome

Fabry Disease
  • Alpha-Galactosidase A Deficiency

  • Anderson-Fabry Disease

  • Angiokeratoma Corporis Diffusum

  • Ceramide Trihexosidase Deficiency

  • Fabry Disease, Cardiac Variant

  • Fabry'S Disease

  • Hereditary Dystopic Lipidosis

  • Gla Deficiency

  • FD

  • Alpha Galactosidase Deficiency

  • Deficiency Of Melibiase

  • Angiokeratoma, Diffuse

  • Angiokeratoma Diffuse

  • Diffuse Angiokeratoma

Bacteriuria
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

Nephronophthisis
  • Medullary Cystic Disease

  • Medullary Cystic Kidney

  • Nph

  • Nphp

  • Kidney Disease, Cystic, Medullary

Pyelonephritis
Acute Cystitis
  • Urinary Tract Infection

  • Recurrent Urinary Tract Infection

Pyelitis
Acute Kidney Failure
  • Acute Renal Failure

  • Acute Kidney Injury

  • Renal Failure Acute

  • Kidney Failure, Acute

  • Pre-Renal Acute Kidney Injury

  • Nontraumatic Acute Kidney Injury

  • Aki - [Acute Kidney Injury]

  • Arf - [Acute Kidney Failure]

  • Acute Kidney Disease

  • Acute Kidney Impairment

  • Acute Ischaemic Renal Failure

  • Acute Hypoxic Kidney Failure

  • Acute Kidney Shutdown

  • Acute Renal Oedema

  • Acute Renal Impairment

  • Acute Kidney Collapse

  • Acute Necrotising Kidney

  • Acute Renal Suppression

Adenine Phosphoribosyltransferase Deficiency
  • Aprt Deficiency

  • 2,8-Dihydroxyadenine Urolithiasis

  • APRTD

  • 2,8-Dihydroxyadeninuria

  • Dihydroxyadeninuria

  • Urolithiasis, 2,8-Dihydroxyadenine

  • Urolithiasis, Dha

  • Nephrolithiasis, Dha

  • Dha Crystalline Nephropathy

  • Nephrolithiasis Dha

  • Urolithiasis Dha

Congenital Anomalies Of Kidney And Urinary Tract 2
  • CAKUT2

  • Ureteropelvic Junction Obstruction

  • Multicystic Renal Dysplasia, Bilateral

  • Pelviureteric Junction Obstruction

  • Pujo

  • Hydronephrosis Due To Pujo

  • Upjo

  • Mcrd

  • Congenital Anomalies Of The Kidney And Urinary Tract 2

  • Mrd

  • Pelvi-Ureteric Junction Obstruction

  • Kidney And Urinary Tract, Anomalies, Congenital, Type 2

  • Obstruction Of Pelviureteric Junction

Renal Dysplasia, Cystic
  • CYSRD

  • Renal Dysplasia, Cystic, Susceptibility To

  • Diffuse Cystic Renal Dysplasia

  • Renal Dysplasia Diffuse Cystic

  • Cystic Renal Dysplasia

  • Susceptibility To Cystic Renal Dysplasia

  • Dysplasia, Renal, Cystic, Susceptibility To

  • Multicystic Dysplastic Kidney

Renal Cysts And Diabetes Syndrome
  • RCAD

  • Mody5

  • Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes

  • Cakut With Diabetes

  • Maturity-Onset Diabetes Of The Young Type 5

  • Tubulointerstitial Kidney Disease, Autosomal Dominant, 3

  • Adtkd3

  • Atypical Familial Juvenile Hyperuricemic Nephropathy

  • Atypical Fjhn

  • Familial Hypoplastic Glomerulocystic Kidney

  • Maturity-Onset Diabetes Of The Young, Type 5

  • Hyperuricemic Nephropathy, Familial Juvenile, Atypical

  • Fjhn, Atypical

  • Glomerulocystic Kidney Disease, Hypoplastic Type

  • Glomerulocystic Kidney, Familial Hypoplastic

  • Hypoplastic Type Glomerulocystic Kidney Disease

  • Glomerulocystic Kidney Disease Hypoplastic Type

  • Renal-Diabetes Mody5 Syndrome

Polycystic Kidney Disease
  • Polycystic Kidney Diseases

  • Pkd

  • Polycystic Renal Disease

  • Kidney Disease, Polycystic

  • Polycystic Kidney, Autosomal Dominant

Kidney Papillary Necrosis
  • Necrotizing Renal Papillitis

  • Papillary Necrosis

  • Renal Papillitis Necrotizing

Congenital Disorder Of Glycosylation, Type In
  • Congenital Disorder Of Glycosylation

  • CDG1N

  • Congenital Disorders Of Glycosylation

  • Cdg In

  • Cdgin

  • Congenital Disorder Of Glycosylation 1n

  • Carbohydrate-Deficient Glycoprotein Syndrome

  • Cdg

  • Rft1-Cdg

  • Cdg-In

  • Congenital Disorder Of Glycosylation Type In

  • Carbohydrate Deficient Glycoprotein Syndrome

  • Cdg Syndrome

  • Congenital Disorder Of Glycosylation In

  • Carbohydrate-Deficient Glycoprotein Syndromes

  • Cdg Syndrome Type In

  • Carbohydrate Deficient Glycoprotein Syndrome Type In

  • Congenital Disorder Of Glycosylation Type 1n

  • Man5glcnac2-Pp-Dol Flippase Deficiency

  • Glycosylation, Congenital Disorder Of

  • Glycosylation, Congenital Disorder Of, Type In

Alport Syndrome
  • Hereditary Nephritis

  • Alport Syndrome, X-Linked

  • Hemorrhagic Hereditary Nephritis

  • Congenital Hereditary Hematuria

  • Hemorrhagic Familial Nephritis

  • Familial Nephritis

  • Thin Basement Membrane Disease

  • Thin Basement Membrane Nephropathy

  • Hematuria-Nephropathy-Deafness Syndrome

  • Hematuric Hereditary Nephritis

  • Hereditary Familial Congenital Hemorrhagic Nephritis

  • Hereditary Hematuria Syndrome

  • Hereditary Interstitial Pyelonephritis

  • Alport Deafness-Nephropathy

  • Alport Hearing Loss-Nephropathy

  • Alports Syndrome

  • Nephritis, Hereditary

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
  • Autosomal Recessive Polycystic Kidney Disease

  • Arpkd

  • Polycystic Kidney Disease, Autosomal Recessive

  • Polycystic Kidney And Hepatic Disease 1

  • Pkhd1

  • PKD4

  • Polycystic Kidney Disease 4 With Or Without Hepatic Disease

  • Polycystic Kidney Disease, Infantile, Type I

  • Polycystic Kidney Disease, Infantile Type

  • Polycystic Kidney, Autosomal Recessive

  • Pkd3, Formerly

  • Polycystic Kidney Disease 4, With Or Without Hepatic Disease

  • Arpkd/Chf

  • Ar-Pkd

  • Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease

  • Infantile Polycystic Kidney Disease Type I

  • Pkd3

  • Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease

  • Polycystic Kidney Disease 3, Autosomal Dominant

Autosomal Dominant Polycystic Kidney Disease
  • Polycystic Kidney Disease, Adult Type

  • Adpkd

  • Polycystic Kidney Diseases

  • Polycystic Kidney, Autosomal Dominant

  • Congenital Biliary Ectasias

  • Polycystic Kidney And Hepatic Disease 1

  • Polycystic Kidney Disease, Autosomal Dominant

  • Kidney, Polycystic, Disease, Autosomal Dominant

  • Adult Polycystic Kidney Disease

  • Polycystic Kidney, Adult Type

  • Apckd - [Autosomal Polycystic Kidney Disease]

Cakut
  • Renal Or Urinary Tract Malformation

  • Congenital Anomalies Of Kidney And Urinary Tract

  • Congenital Anomaly Of Kidney And Urinary Tract

  • Congenital Anomalies Of The Kidney And Urinary Tract

  • Kidney And Urinary Tract, Anomalies, Congenital

  • Renal Hypodysplasia, Nonsyndromic, 1

Hematuria, Benign Familial
  • Benign Familial Hematuria

  • BFH

  • Thin Membrane Nephropathy

  • Tmn

  • Thin Basement Membrane Nephropathy

  • Thin-Basement-Membrane Nephropathy

  • Hematuria, Familial Benign

  • Hematuria Benign Familial

  • Hematuria, Benign, Familial

  • Thin Basement Membrane Disease

Lesch-Nyhan Syndrome
  • Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

  • LNS

  • Hprt Deficiency

  • Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase Deficiency

  • X-Linked Hyperuricemia

  • Choreoathetosis Self-Mutilation Syndrome

  • Hprt1 Deficiency

  • Hprt Deficiency, Complete

  • Deficiency Of Imp Pyrophosphorylase

  • Hgprt Deficiency

  • Lesch-Nyhan Disease

  • Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency

  • Hg-Prt Deficiency

  • Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency

  • Lesch - Nyhan Syndrome

  • Hprt1 Disorders

  • Lesch Nyhan Syndrome

  • Complete Hprt Deficiency Complete

  • Lesch Nyhan Disease

  • Complete Hprt Deficiency

  • Deficiency Of Guanine Phosphoribosyltransferase

  • Deficiency Of Hypoxanthine Phosphoribosyltransferase

  • Hypoxanthine Phosphoribosyltransferase Deficiency

  • Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome

  • Juvenile Hyperuricemia Syndrome

  • Lnd

  • Primary Hyperuricemia Syndrome

  • Total Hprt Deficiency

  • Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency

  • X-Linked Primary Hyperuricemia

  • X-Linked Uric Aciduria Enzyme Defect

  • Hprt Complete Deficiency

  • Hprt Deficiency Grade Iv

  • Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv

  • Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency

  • Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency

  • Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

Ureteral Disease
  • Ureteral Diseases

  • Ureteral Disorders

  • Disorder Of Ureter

Cystinuria
  • CSNU

  • Cystinuria Type B

  • Cystinuria Type A

  • Cystinuria, Type I, Formerly

  • Csnu1, Formerly

  • Cystinuria, Type Ii, Formerly

  • Cystinuria, Type Iii, Formerly

  • Csnu3, Formerly

  • Cystinuria, Type Non-I, Formerly

  • Cystinuria-Lysinuria

  • Cystinuria-Lysinuria Syndrome

  • Csnu1

  • Csnu3

  • Cystinuria 1

  • Cystinuria Type A/B

  • Cystinuria Type I

  • Cystinuria Type Ii

  • Cystinuria Type Iii

  • Cystinuria Type Non-I

  • Cystinuria, Type A/B

  • Cystinuria Type 1

  • Cystinuria - Lysinuria

  • Csnu - [Cystinuria]

  • Cystine Disease

Diabetes Mellitus
  • Diabetes

Liddle Syndrome 1
  • Liddle Syndrome

  • Pseudoaldosteronism

  • Liddle'S Syndrome

  • LIDLS1

  • Lidls

  • Pseudohyperaldosteronism

  • Pseudoprimary Hyperaldosteronism

  • Pseudohyperaldosteronism Type 1

  • Liddles Syndrome

Polycystic Liver Disease
  • Autosomal Dominant Polycystic Liver Disease

  • Isolated Polycystic Liver Disease

  • Pcld

  • Congenital Cystic Liver Disease

  • Congenital Hepatic Cyst

  • Fibrocystic Liver Disease

  • Isolated Autosomal Dominant Polycystic Liver Disease

  • Adpcld

  • Liver Disease, Polycystic

  • Multiple Cysts Of Liver

  • Pld - [Polycystic Liver Disease]

  • Polycystic Liver Disorder

  • Polycystic Liver

  • Congenital Polycystic Disease Of Liver

  • Congenital Polycystic Liver Disease

Hypertension, Essential
  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration

Maturity-Onset Diabetes Of The Young
  • MODY

  • Maturity Onset Diabetes Mellitus In Young

  • Mason-Type Diabetes

  • Mason Type Diabetes

  • Maturity Onset Diabetes Of The Young

  • Mody Syndrome

  • Diabetes Of The Young, Maturity-Onset

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
Macaca mulatta UMOD VGNC VGNC:78716
Canis familiaris UMOD VGNC VGNC:54085
Felis catus UMOD VGNC VGNC:66818
Bos taurus UMOD VGNC VGNC:57318
Rattus norvegicus UMOD RGD RGD:3940
Mus musculus UMOD MGD MGI:102674
Others UMOD NCBI