ADTKD1
MCID: TBL031
MIFTS: 48

Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 (ADTKD1)

Categories: Blood diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

MalaCards integrated aliases for Tubulointerstitial Kidney Disease, Autosomal Dominant, 1:

Name: Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 57
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 57 72 29 6
Familial Juvenile Hyperuricemic Nephropathy 57 12 36 15
Familial Juvenile Hyperuricemic Nephropathy Type 1 58 29 6
Mckd2 57 58 72
Medullary Cystic Kidney Disease 2, Autosomal Dominant 57 6
Medullary Cystic Kidney Disease 2 57 72
Admckd2 57 72
Hnfj1 57 72
Fjhn 57 72
Kidney Disease, Glomerulocystic, with Hyperuricemia and Isosthenuria 39
Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease 58
Medullary Cystic Kidney Disease 2, Autosomal Dominant; Admckd2 57
Autosomal Dominant Medullary Cystic Kidney Disease Type 2 58
Hyperuricemic Nephropathy, Familial Juvenile, 1; Hnfj1 57
Nephropathy, Hyperuricemic, Juvenile, Familial, Type 1 39
Autosomal Dominant Medullary Cystic Kidney Disease 2 72
Familial Juvenile Hyperuricemic Nephropathy; Fjhn 57
Hyperuricemic Nephropathy, Familial Juvenile, 1 57
Hyperuricemic Nephropathy, Familial Juvenile 1 13
Familial Juvenile Hyperuricemic Nephropathy 1 72
Hyperuricemic Nephropathy, Familial Juvenile 54
Kidney Disease, Cystic, Medullary, Type 2 39
Medullary Cystic Kidney Disease 2; Mckd2 57
Medullary Cystic Kidney Disease Type Ii 17
Medullary Cystic Kidney Disease Type 2 70
Gouty Nephropathy, Familial Juvenile 57
Uromodulin-Associated Kidney Disease 58
Gouty Nephropathy Familial Juvenile 72
Nephropathy Familial with Gout 72
Uromodulin Kidney Disease 58
Familial Juvenile Gout 70
Umod-Related Adtkd 58
Adtkd-Umod 58
Adtkd1 57
Gckdhi 72
Fjhn1 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive disorder
onset of hyperuricemia or gout in young adulthood
highly variable phenotype, even within families


HPO:

31
tubulointerstitial kidney disease, autosomal dominant, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset progressive


Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:0060062
OMIM® 57 162000
OMIM Phenotypic Series 57 PS162000
KEGG 36 H02011
ICD10 via Orphanet 33 Q61.5
Orphanet 58 ORPHA88950
UMLS 70 C0268113 C1859040

Summaries for Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

OMIM® : 57 Autosomal dominant tubulointerstitial kidney disease-1 (ADTKD1) is an adult-onset slowly progressive renal disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure. Some patients may develop gouty arthritis, arterial hypertension, polydipsia/polyuria, or mild proteinuria. The onset of symptoms is usually in the third or fourth decade, although earlier and later onset have been reported. Renal ultrasound may show small or hyperechogenic kidneys. Renal biopsy shows variable abnormalities, including tubular atrophy, interstitial fibrosis, microcystic dilatation of the tubules, thickening of tubular basement membranes, medullary cysts, and secondary glomerulosclerotic or glomerulocystic changes with abnormal glomerular tufting. The median age at onset of end-stage renal disease (ESRD) is 56 years (range 50-65). There is significant inter- and intrafamilial variability, as well as incomplete penetrance, which hampers diagnosis (summary by Hart et al., 2002, Ayasreh et al., 2018, and Devuyst et al., 2019). (162000) (Updated 05-Apr-2021)

MalaCards based summary : Tubulointerstitial Kidney Disease, Autosomal Dominant, 1, also known as glomerulocystic kidney disease with hyperuricemia and isosthenuria, is related to autosomal dominant tubulointerstitial kidney disease - ren and autosomal dominant tubulointerstitial kidney disease. An important gene associated with Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 is UMOD (Uromodulin), and among its related pathways/superpathways are Renin-angiotensin system and Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include kidney and liver, and related phenotypes are multiple renal cysts and gout

Disease Ontology : 12 A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.

KEGG : 36 Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder, which is characterized by elevated serum uric acid concentrations due to a low fractional excretion of uric acid (FEUA), defective urinary concentrating ability, interstitial nephropathy, and progression to end-stage renal failure. Recently, new terminology using the term autosomal dominant tubulointerstitial kidney disease (ADTKD) has been proposed, and FJHN is encompassed by it.

UniProtKB/Swiss-Prot : 72 Familial juvenile hyperuricemic nephropathy 1: A renal disease characterized by juvenile onset of hyperuricemia, polyuria, progressive renal failure, and gout. The disease is associated with interstitial pathological changes resulting in fibrosis.
Glomerulocystic kidney disease with hyperuricemia and isosthenuria: A renal disorder characterized by a cystic dilation of Bowman space, a collapse of glomerular tuft, and hyperuricemia due to low fractional excretion of uric acid and severe impairment of urine concentrating ability.
Medullary cystic kidney disease 2: A form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade.

Related Diseases for Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

Diseases in the Autosomal Dominant Tubulointerstitial Kidney Disease family:

Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related
Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease

Diseases related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant tubulointerstitial kidney disease - ren 32.1 UMOD REN
2 autosomal dominant tubulointerstitial kidney disease 32.0 UMOD REN MUC1 HNF1B
3 hyperuricemic nephropathy, familial juvenile, 3 31.9 HNFJ3 HNF1B
4 nephronophthisis 31.6 UMOD RMND1 NPHP4 NPHP1 MUC1 HNF1B
5 cystic kidney disease 30.5 UMOD PAX2 NPHP4 NPHP1 MUC1 HNF1B
6 end stage renal disease 30.1 UMOD REN PAX2 NPHP4
7 hyperuricemia 29.9 UMOD SLC2A9 SLC22A12 REN HPRT1 HNF1B
8 gout 29.9 UMOD SLC2A9 SLC22A6 SLC22A12 SLC22A11 HPRT1
9 renal fibrosis 29.8 REN NPHP4 NPHP1
10 vesicoureteral reflux 1 29.6 UMOD REN PAX2
11 kidney disease 29.1 UMOD SLC12A1 REN PAX2 NPHP4 NPHP1
12 autosomal dominant tubulointerstitial kidney disease, umod-related 11.7
13 autosomal dominant tubulointerstitial kidney disease due to ren mutations 11.5
14 ren-related kidney disease 11.4
15 renal cysts and diabetes syndrome 10.9
16 tubulointerstitial kidney disease, autosomal dominant, 2 10.9
17 tubulointerstitial kidney disease, autosomal dominant, 4 10.9
18 tubulointerstitial kidney disease, autosomal dominant, 5 10.9
19 chronic kidney disease 10.6
20 interstitial nephritis 10.4
21 retinal aplasia 10.3 NPHP4 NPHP1
22 cogan syndrome 10.3 NPHP4 NPHP1
23 joubert syndrome 15 10.3 NPHP4 NPHP1
24 nephronophthisis 13 10.3 NPHP4 NPHP1
25 caroli disease 10.3 NPHP1 HNF1B
26 oligomeganephronia 10.3 PAX2 HNF1B
27 ureterocele 10.3 PAX2 NPHP1
28 nephronophthisis 18 10.3 NPHP4 NPHP1
29 fallopian tube endometrioid adenocarcinoma 10.3 PAX2 HNF1B
30 brachyolmia type 4 with mild epiphyseal and metaphyseal changes 10.2 SHROOM3 MUC1
31 hypouricemia, renal, 1 10.2 SLC2A9 SLC22A12 HPRT1
32 purine-pyrimidine metabolic disorder 10.2 SLC2A9 SLC22A12 HPRT1
33 nephronophthisis 7 10.2 NPHP4 NPHP1
34 endosalpingiosis 10.2 PAX2 MUC1
35 mayer-rokitansky-kuster-hauser syndrome 10.2 PAX2 HNF1B
36 nephronophthisis 15 10.2 NPHP4 NPHP1
37 nephrogenic adenoma 10.2 PAX2 MUC1
38 nephronophthisis 11 10.2 NPHP4 NPHP1
39 nephronophthisis 16 10.2 NPHP4 NPHP1
40 nephrolithiasis, calcium oxalate 10.1
41 renal hypertension 10.1
42 autosomal dominant tubulointerstitial kidney disease, muc1-related 10.1
43 hnf1b-related autosomal dominant tubulointerstitial kidney disease 10.1
44 meckel syndrome, type 2 10.1 NPHP4 NPHP1
45 fanconi syndrome 10.1 UMOD SLC22A6 SLC22A12
46 nephronophthisis 14 10.1 NPHP4 NPHP1
47 polycystic liver disease 1 with or without kidney cysts 10.1 NPHP4 NPHP1 MUC1 HNF1B
48 nephronophthisis 4 10.0 NPHP4 NPHP1
49 renal artery atheroma 10.0 SLC2A9 REN
50 polycystic kidney disease 4 with or without polycystic liver disease 9.9 UMOD PAX2 NPHP4 NPHP1 HNF1B

Graphical network of the top 20 diseases related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 1:



Diseases related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

Symptoms & Phenotypes for Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

Human phenotypes related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 1:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 multiple renal cysts 31 very rare (1%) HP:0005562
2 gout 31 very rare (1%) HP:0001997
3 tubulointerstitial nephritis 31 very rare (1%) HP:0001970
4 stage 5 chronic kidney disease 31 very rare (1%) HP:0003774
5 nephropathy 31 HP:0000112
6 renal insufficiency 31 HP:0000083
7 hyperuricemia 31 HP:0002149
8 abnormal renal tubule morphology 31 HP:0000091
9 enuresis 31 HP:0000805
10 renal tubular atrophy 31 HP:0000092
11 nephritis 31 HP:0000123
12 multiple glomerular cysts 31 HP:0100611
13 multiple small medullary renal cysts 31 HP:0008659
14 renal corticomedullary cysts 31 HP:0000108

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Kidneys:
nephropathy
polydipsia
renal insufficiency
polyuria
renal failure
more
Metabolic Features:
gout

Laboratory Abnormalities:
hyperuricemia
decreased urinary excretion of uromodulin

Cardiovascular Vascular:
arterial hypertension (in some patients)

Clinical features from OMIM®:

162000 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.4 HNF1B HPRT1 NPHP1 NPHP4 PAX2 REN

Drugs & Therapeutics for Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

Search Clinical Trials , NIH Clinical Center for Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

Genetic Tests for Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

Genetic tests related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 1:

# Genetic test Affiliating Genes
1 Familial Juvenile Hyperuricemic Nephropathy Type 1 29 UMOD
2 Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 29

Anatomical Context for Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

MalaCards organs/tissues related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 1:

40
Kidney, Liver

Publications for Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

Articles related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 1:

(show top 50) (show all 104)
# Title Authors PMID Year
1
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. 54 57 6 61
20172860 2010
2
A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. 54 61 6 57
14569098 2003
3
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. 54 57 61 6
12629136 2003
4
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. 6 57 61
16883323 2006
5
Homozygosity for uromodulin disorders: FJHN and MCKD-type 2. 57 6 61
15253706 2004
6
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. 61 6 57
14570709 2003
7
Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13. 61 57 6
12519891 2003
8
A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure. 57 6
20472742 2010
9
Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. 6 57
19465746 2009
10
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes. 6 57
12634862 2003
11
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. 6 57
12471200 2002
12
Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease. 57 6
12205338 2002
13
Identification of a new locus for medullary cystic disease, on chromosome 16p12. 6 57
10330352 1999
14
Familial hyperuricemia and renal disease. 6 57
7396593 1980
15
A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. 61 57 54
15983957 2005
16
Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity. 57 61
10780922 2000
17
Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family. 57 61
10765940 2000
18
A Uromodulin Mutation Drives Autoimmunity and Kidney Mononuclear Phagocyte Endoplasmic Reticulum Stress. 6
32926855 2020
19
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1. 57
32450155 2020
20
Autosomal Dominant Tubulointerstitial Kidney Disease-Uromodulin Misclassified as Focal Segmental Glomerulosclerosis or Hereditary Glomerular Disease. 6
32274456 2020
21
Autosomal dominant tubulointerstitial kidney disease. 57
31488840 2019
22
Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1. 57
29784615 2018
23
Elevated urinary CRELD2 is associated with endoplasmic reticulum stress-mediated kidney disease. 6
29212948 2017
24
Uromodulin: from physiology to rare and complex kidney disorders. 6
28781372 2017
25
A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease. 6
27729211 2017
26
Molecular and cellular effects of Tamm-Horsfall protein mutations and their rescue by chemical chaperones. 6
22117067 2012
27
Identification and characterization of D8C, a novel domain present in liver-specific LZP, uromodulin and glycoprotein 2, mutated in familial juvenile hyperuricaemic nephropathy. 6
15589826 2004
28
Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children. 57
9686952 1998
29
Familial renal disease or familial juvenile hyperuricaemic nephropathy? 57
9266353 1997
30
Newly discovered familial juvenile gouty nephropathy in a Japanese family. 57
7477627 1995
31
Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease. 57
1873940 1991
32
Autosomal dominant transmission of gouty arthritis with renal disease in a large Japanese family. 57
1847794 1991
33
Does allopurinol affect the progression of familial juvenile gouty nephropathy? 57
1789208 1991
34
Precocious familial gout. 57
1975911 1990
35
Precocious familial gout with reduced fractional urate clearance and normal purine enzymes. 57
2388995 1990
36
Familial nephropathy with hyperuricemia and gout. 57
6855996 1983
37
Familial gout and renal failure in young women. 57
7428192 1980
38
An unusual form of renal disease associated with gout and hypertension. 57
5556122 1971
39
Gout, familial hypericaemia, and renal disease. 57
13818629 1960
40
An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review. 61 54
20497759 2010
41
Immature renal structures associated with a novel UMOD sequence variant. 54 61
18950917 2009
42
Familial juvenile hyperuricemic nephropathy: report on a new mutation and a pregnancy. 61 54
19203555 2009
43
Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT). 54 61
18846391 2009
44
Production and characterization of transgenic mice harboring mutant human UMOD gene. 61 54
18600511 2008
45
[Definition and classification of hyperuricemia]. 61 54
18409507 2008
46
[Historical review of gout and hyperuricemia investigations]. 54 61
18409506 2008
47
[Primary hyperuricemia due to decreased renal uric acid excretion]. 61 54
18409514 2008
48
Control of renal uric acid excretion and gout. 61 54
18349750 2008
49
The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect. 61 54
17245395 2007
50
Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy. 54 61
17151335 2007

Variations for Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

ClinVar genetic disease variations for Tubulointerstitial Kidney Disease, Autosomal Dominant, 1:

6 (show all 39)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UMOD NM_003361.3(UMOD):c.529_555del (p.His177_Arg185del) Deletion Pathogenic 12254 rs1555487528 GRCh37: 16:20360068-20360094
GRCh38: 16:20348746-20348772
2 UMOD NM_003361.3(UMOD):c.443G>A (p.Cys148Tyr) SNV Pathogenic 12255 rs28934582 GRCh37: 16:20360180-20360180
GRCh38: 16:20348858-20348858
3 UMOD NM_003361.3(UMOD):c.649T>C (p.Cys217Arg) SNV Pathogenic 12256 rs28934583 GRCh37: 16:20359974-20359974
GRCh38: 16:20348652-20348652
4 UMOD NM_003361.3(UMOD):c.307G>T (p.Gly103Cys) SNV Pathogenic 12257 rs28934584 GRCh37: 16:20360316-20360316
GRCh38: 16:20348994-20348994
5 UMOD NM_003361.3(UMOD):c.230G>A (p.Cys77Tyr) SNV Pathogenic 12258 rs121917768 GRCh37: 16:20360393-20360393
GRCh38: 16:20349071-20349071
6 UMOD NM_003361.3(UMOD):c.376T>C (p.Cys126Arg) SNV Pathogenic 12259 rs121917769 GRCh37: 16:20360247-20360247
GRCh38: 16:20348925-20348925
7 UMOD NM_003361.3(UMOD):c.383A>G (p.Asn128Ser) SNV Pathogenic 12260 rs121917770 GRCh37: 16:20360240-20360240
GRCh38: 16:20348918-20348918
8 UMOD NM_003361.3(UMOD):c.764G>A (p.Cys255Tyr) SNV Pathogenic 12261 rs121917771 GRCh37: 16:20359859-20359859
GRCh38: 16:20348537-20348537
9 UMOD NM_003361.3(UMOD):c.898T>G (p.Cys300Gly) SNV Pathogenic 12262 rs121917772 GRCh37: 16:20359620-20359620
GRCh38: 16:20348298-20348298
10 UMOD NM_003361.3(UMOD):c.943T>C (p.Cys315Arg) SNV Pathogenic 12263 rs121917773 GRCh37: 16:20359575-20359575
GRCh38: 16:20348253-20348253
11 UMOD NM_003361.3(UMOD):c.817G>T (p.Val273Phe) SNV Pathogenic 12264 rs121917774 GRCh37: 16:20359806-20359806
GRCh38: 16:20348484-20348484
12 UMOD NM_003361.3(UMOD):c.649T>G (p.Cys217Gly) SNV Pathogenic 39418 rs28934583 GRCh37: 16:20359974-20359974
GRCh38: 16:20348652-20348652
13 UMOD NM_003361.3(UMOD):c.743G>C (p.Cys248Ser) SNV Pathogenic 64644 rs398122388 GRCh37: 16:20359880-20359880
GRCh38: 16:20348558-20348558
14 UMOD NM_003361.3(UMOD):c.651C>G (p.Cys217Trp) SNV Pathogenic 807520 rs1596561934 GRCh37: 16:20359972-20359972
GRCh38: 16:20348650-20348650
15 UMOD NM_003361.3(UMOD):c.947A>C (p.Gln316Pro) SNV Pathogenic 441279 rs1555487318 GRCh37: 16:20359571-20359571
GRCh38: 16:20348249-20348249
16 UMOD NM_003361.3(UMOD):c.358T>G (p.Cys120Gly) SNV Pathogenic 488632 rs1555487621 GRCh37: 16:20360265-20360265
GRCh38: 16:20348943-20348943
17 UMOD NM_003361.3(UMOD):c.890G>A (p.Cys297Tyr) SNV Pathogenic 803225 rs1596560944 GRCh37: 16:20359628-20359628
GRCh38: 16:20348306-20348306
18 UMOD NM_001008389.3(UMOD):c.317G>A (p.Cys106Tyr) SNV Pathogenic 807521 rs398123697 GRCh37: 16:20360306-20360306
GRCh38: 16:20348984-20348984
19 UMOD NM_001008389.3(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) Indel Pathogenic 242346 rs878855325 GRCh37: 16:20360334-20360345
GRCh38: 16:20349012-20349023
20 UMOD NM_003361.4(UMOD):c.444T>G (p.Cys148Trp) SNV Pathogenic 996329 GRCh37: 16:20360179-20360179
GRCh38: 16:20348857-20348857
21 UMOD NM_003361.4(UMOD):c.586G>A (p.Asp196Asn) SNV Pathogenic 996330 GRCh37: 16:20360037-20360037
GRCh38: 16:20348715-20348715
22 UMOD NM_003361.4(UMOD):c.742T>C (p.Cys248Arg) SNV Likely pathogenic 1012182 GRCh37: 16:20359881-20359881
GRCh38: 16:20348559-20348559
23 UMOD NM_003361.4(UMOD):c.189C>G (p.Cys63Trp) SNV Likely pathogenic 974368 GRCh37: 16:20360434-20360434
GRCh38: 16:20349112-20349112
24 UMOD NM_003361.3(UMOD):c.317G>T (p.Cys106Phe) SNV Likely pathogenic 94129 rs398123697 GRCh37: 16:20360306-20360306
GRCh38: 16:20348984-20348984
25 UMOD NM_003361.3(UMOD):c.317G>T (p.Cys106Phe) SNV Likely pathogenic 94129 rs398123697 GRCh37: 16:20360306-20360306
GRCh38: 16:20348984-20348984
26 UMOD NM_003361.3(UMOD):c.774G>C (p.Trp258Cys) SNV Likely pathogenic 562394 rs1567309582 GRCh37: 16:20359849-20359849
GRCh38: 16:20348527-20348527
27 UMOD NM_003361.3(UMOD):c.197T>C (p.Leu66Pro) SNV Likely pathogenic 562408 rs1567311288 GRCh37: 16:20360426-20360426
GRCh38: 16:20349104-20349104
28 UMOD NM_003361.4(UMOD):c.249C>G (p.Cys83Trp) SNV Likely pathogenic 992422 GRCh37: 16:20360374-20360374
GRCh38: 16:20349052-20349052
29 UMOD NM_001008389.3(UMOD):c.949T>G (p.Cys317Gly) SNV Likely pathogenic 446167 rs1555487316 GRCh37: 16:20359569-20359569
GRCh38: 16:20348247-20348247
30 UMOD NM_003361.4(UMOD):c.552G>C (p.Trp184Cys) SNV Likely pathogenic 931170 GRCh37: 16:20360071-20360071
GRCh38: 16:20348749-20348749
31 UMOD NM_003361.4(UMOD):c.150C>G (p.Cys50Trp) SNV Likely pathogenic 975071 GRCh37: 16:20360473-20360473
GRCh38: 16:20349151-20349151
32 UMOD NM_003361.3(UMOD):c.587A>G (p.Asp196Gly) SNV Likely pathogenic 397522 rs1060499657 GRCh37: 16:20360036-20360036
GRCh38: 16:20348714-20348714
33 UMOD NM_003361.3(UMOD):c.1463G>A (p.Gly488Asp) SNV Likely pathogenic 437927 rs1555486021 GRCh37: 16:20352527-20352527
GRCh38: 16:20341205-20341205
34 UMOD NM_003361.3(UMOD):c.1680C>G (p.Asp560Glu) SNV Uncertain significance 253010 rs200473249 GRCh37: 16:20348673-20348673
GRCh38: 16:20337351-20337351
35 UMOD NM_003361.4(UMOD):c.998T>C (p.Leu333Pro) SNV Uncertain significance 992461 GRCh37: 16:20357632-20357632
GRCh38: 16:20346310-20346310
36 UMOD NM_003361.4(UMOD):c.202G>A (p.Glu68Lys) SNV Uncertain significance 917864 GRCh37: 16:20360421-20360421
GRCh38: 16:20349099-20349099
37 UMOD NM_003361.3(UMOD):c.1406C>T (p.Thr469Met) SNV Uncertain significance 198492 rs143583842 GRCh37: 16:20352584-20352584
GRCh38: 16:20341262-20341262
38 UMOD NM_003361.3(UMOD):c.840C>T (p.Pro280=) SNV Benign 196362 rs78691203 GRCh37: 16:20359783-20359783
GRCh38: 16:20348461-20348461
39 UMOD NM_003361.3(UMOD):c.1372G>T (p.Val458Leu) SNV Benign 290985 rs55772253 GRCh37: 16:20352618-20352618
GRCh38: 16:20341296-20341296

UniProtKB/Swiss-Prot genetic disease variations for Tubulointerstitial Kidney Disease, Autosomal Dominant, 1:

72 (show all 33)
# Symbol AA change Variation ID SNP ID
1 UMOD p.Cys148Tyr VAR_017667 rs28934582
2 UMOD p.Cys217Arg VAR_017668 rs28934583
3 UMOD p.Cys77Tyr VAR_025950 rs121917768
4 UMOD p.Cys126Arg VAR_025952 rs121917769
5 UMOD p.Asn128Ser VAR_025953 rs121917770
6 UMOD p.Cys148Trp VAR_025954
7 UMOD p.Cys150Ser VAR_025955
8 UMOD p.Cys223Tyr VAR_025956
9 UMOD p.Cys248Trp VAR_025958 rs886043751
10 UMOD p.Cys255Tyr VAR_025959 rs121917771
11 UMOD p.Cys300Gly VAR_025960 rs121917772
12 UMOD p.Cys317Tyr VAR_025962
13 UMOD p.Val109Glu VAR_071398 rs780462125
14 UMOD p.Trp230Arg VAR_071399
15 UMOD p.Pro236Gln VAR_071400
16 UMOD p.Ala461Glu VAR_071401
17 UMOD p.Cys52Trp VAR_073052
18 UMOD p.Asp59Ala VAR_073053
19 UMOD p.Cys112Arg VAR_073054
20 UMOD p.Cys135Ser VAR_073055
21 UMOD p.Cys170Tyr VAR_073057
22 UMOD p.Arg185Ser VAR_073058
23 UMOD p.Cys195Phe VAR_073059
24 UMOD p.Trp202Ser VAR_073060
25 UMOD p.Arg204Gly VAR_073061
26 UMOD p.Cys217Gly VAR_073062 rs28934583
27 UMOD p.Arg222Pro VAR_073063
28 UMOD p.Thr225Met VAR_073064
29 UMOD p.Pro236Leu VAR_073065 rs144745897
30 UMOD p.Pro236Arg VAR_073066
31 UMOD p.Cys282Arg VAR_073067
32 UMOD p.Gln316Pro VAR_073068 rs155548731
33 UMOD p.Cys347Gly VAR_073069

Expression for Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

Search GEO for disease gene expression data for Tubulointerstitial Kidney Disease, Autosomal Dominant, 1.

Pathways for Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

Pathways related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 according to KEGG:

36
# Name Kegg Source Accession
1 Renin-angiotensin system hsa04614

Pathways related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.46 SLC22A6 SLC22A11
2 10 SLC2A9 SLC22A6 SLC22A12 SLC22A11
3 9.98 SLC22A12 SLC22A11 HPRT1

GO Terms for Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

Cellular components related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.17 UMOD SLC2A9 SLC22A12 SLC22A11 SLC12A1 SHROOM3

Biological processes related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.89 SLC2A9 SLC22A6 SLC22A12 SLC22A11 SLC12A1
2 response to drug GO:0042493 9.76 UMOD SLC22A12 REN HNF1B
3 kidney development GO:0001822 9.69 UMOD REN HNF1B
4 sodium ion homeostasis GO:0055078 9.48 UMOD SLC12A1
5 mesonephros development GO:0001823 9.43 REN PAX2
6 positive regulation of bicellular tight junction assembly GO:1903348 9.4 NPHP4 NPHP1
7 pronephros development GO:0048793 9.37 PAX2 HNF1B
8 urate transport GO:0015747 9.32 SLC2A9 SLC22A12
9 metanephric distal convoluted tubule development GO:0072221 9.26 UMOD PAX2
10 visual behavior GO:0007632 9.16 NPHP4 NPHP1
11 organic anion transport GO:0015711 9.13 SLC22A6 SLC22A12 SLC22A11
12 urate metabolic process GO:0046415 8.8 SLC2A9 SLC22A12 SLC22A11

Molecular functions related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.32 SLC22A6 SLC22A11
2 organic anion transmembrane transporter activity GO:0008514 9.26 SLC22A6 SLC22A11
3 inorganic anion exchanger activity GO:0005452 9.16 SLC22A6 SLC22A11
4 transmembrane transporter activity GO:0022857 9.02 SLC2A9 SLC22A6 SLC22A12 SLC22A11 SLC12A1
5 urate transmembrane transporter activity GO:0015143 8.96 SLC2A9 SLC22A12

Sources for Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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