ADTKD4
MCID: TBL033
MIFTS: 28

Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 (ADTKD4)

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

Aliases & Classifications for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

MalaCards integrated aliases for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4:

Name: Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 57
Hyperuricemic Nephropathy, Familial Juvenile, 2 57 29 6
Hnfj2 57 73
Early-Onset Hyperuricemia, Anemia, and Progressive Kidney Failure 57
Ren-Related Autosomal Dominant Tubulointerstitial Kidney Disease 58
Early-Onset Hyperuricemia Anemia and Progressive Kidney Failure 73
Ren-Associated Familial Juvenile Hyperuricemic Nephropathy 58
Hyperuricemic Nephropathy, Familial Juvenile, 2; Hnfj2 57
Nephropathy, Hyperuricemic, Familial Juvenile, Type 2 39
Familial Juvenile Hyperuricemic Nephropathy Type 2 58
Familial Juvenile Hyperuricemic Nephropathy 2 73
Ren-Associated Kidney Disease 58
Ren-Associated Fjhn 58
Fjhn Type 2 58
Adtkd-Ren 58
Adtkd4 57

Characteristics:

Orphanet epidemiological data:

58
ren-related autosomal dominant tubulointerstitial kidney disease
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

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

Miscellaneous:
normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe


HPO:

31
tubulointerstitial kidney disease, autosomal dominant, 4:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

OMIM® 57 613092
OMIM Phenotypic Series 57 PS162000
MeSH 44 D007674
UMLS via Orphanet 72 C2751310
Orphanet 58 ORPHA217330
MedGen 41 C2751310

Summaries for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

OMIM® : 57 Autosomal dominant tubulointerstitial kidney disease-4 (ADTKD4) is a progressive renal disorder characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria. Although the anemia tends to improve with age, progressive renal insufficiency results in end-stage kidney disease between 40 and 70 years. Renal ultrasound may show small echogenic kidneys, and biopsy shows tubular atrophy and interstitial fibrosis, sometimes with cysts and secondary glomerulosclerosis (summary by Zivna et al., 2009). For discussion of the revised nomenclature and genetic heterogeneity of ADTKD, see ADTKD1 (162000). (613092) (Updated 05-Mar-2021)

MalaCards based summary : Tubulointerstitial Kidney Disease, Autosomal Dominant, 4, also known as hyperuricemic nephropathy, familial juvenile, 2, is related to autosomal dominant tubulointerstitial kidney disease due to ren mutations and ren-related kidney disease. An important gene associated with Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 is REN (Renin). Affiliated tissues include kidney, and related phenotypes are anemia and hyperuricemia

UniProtKB/Swiss-Prot : 73 Familial juvenile hyperuricemic nephropathy 2: A renal disease characterized by juvenile onset of hyperuricemia, slowly progressive renal failure and anemia.

Related Diseases for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

Graphical network of the top 20 diseases related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 4:



Diseases related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

Symptoms & Phenotypes for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

Human phenotypes related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 4:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 anemia 31 HP:0001903
2 hyperuricemia 31 HP:0002149
3 renal hypoplasia 31 HP:0000089
4 chronic kidney disease 31 HP:0012622
5 renal tubular atrophy 31 HP:0000092
6 tubulointerstitial fibrosis 31 HP:0005576
7 focal segmental glomerulosclerosis 31 HP:0000097
8 hyperechogenic kidneys 31 HP:0004719

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Genitourinary Kidneys:
hyperuricemia
interstitial fibrosis
renal failure, slowly progressive
small echogenic kidneys
focal tubular atrophy
more
Hematology:
anemia, mild

Clinical features from OMIM®:

613092 (Updated 05-Mar-2021)

Drugs & Therapeutics for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

Search Clinical Trials , NIH Clinical Center for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

Genetic Tests for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

Genetic tests related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 4:

# Genetic test Affiliating Genes
1 Hyperuricemic Nephropathy, Familial Juvenile, 2 29 REN

Anatomical Context for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

MalaCards organs/tissues related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 4:

40
Kidney

Publications for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

Articles related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 4:

# Title Authors PMID Year
1
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. 61 6 57
19664745 2009
2
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
3
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. 57
16164624 2005

Variations for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

ClinVar genetic disease variations for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4:

6 (show all 33)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LOC107548112 NM_000537.4(REN):c.36_38GCT[3] (p.Leu16del) Microsatellite Pathogenic 13125 rs1571652012 1:204135375-204135377 1:204166247-204166249
2 LOC107548112 NM_000537.4(REN):c.47T>G (p.Leu16Arg) SNV Pathogenic 13126 rs121917743 1:204135375-204135375 1:204166247-204166247
3 REN NM_000537.4(REN):c.145C>T (p.Arg49Ter) SNV Pathogenic 13123 rs121917741 1:204131245-204131245 1:204162117-204162117
4 LOC107548112 NM_000537.4(REN):c.47T>A (p.Leu16His) SNV Likely pathogenic 438681 rs121917743 1:204135375-204135375 1:204166247-204166247
5 LOC107548112 NM_000537.4(REN):c.58T>C (p.Cys20Arg) SNV Likely pathogenic 974505 1:204135364-204135364 1:204166236-204166236
6 REN NM_000537.4(REN):c.267G>T (p.Glu89Asp) SNV Uncertain significance 294963 rs886045835 1:204130526-204130526 1:204161398-204161398
7 REN NM_000537.4(REN):c.817G>C (p.Gly273Arg) SNV Uncertain significance 294953 rs752756662 1:204125806-204125806 1:204156678-204156678
8 REN NM_000537.4(REN):c.661G>A (p.Glu221Lys) SNV Uncertain significance 875663 1:204128555-204128555 1:204159427-204159427
9 REN NM_000537.4(REN):c.871G>A (p.Val291Ile) SNV Uncertain significance 873768 1:204125395-204125395 1:204156267-204156267
10 REN NM_000537.4(REN):c.832T>C (p.Ser278Pro) SNV Uncertain significance 873769 1:204125434-204125434 1:204156306-204156306
11 REN NM_000537.4(REN):c.317G>C (p.Gly106Ala) SNV Uncertain significance 873819 1:204130476-204130476 1:204161348-204161348
12 REN NM_000537.4(REN):c.961-12C>A SNV Uncertain significance 294951 rs886045834 1:204125058-204125058 1:204155930-204155930
13 REN NM_000537.4(REN):c.390C>T (p.Phe130=) SNV Uncertain significance 294961 rs377092171 1:204129790-204129790 1:204160662-204160662
14 REN NM_000537.4(REN):c.718G>A (p.Gly240Arg) SNV Uncertain significance 874723 1:204125905-204125905 1:204156777-204156777
15 LOC107548112 NM_000537.4(REN):c.-26A>G SNV Uncertain significance 874782 1:204135447-204135447 1:204166319-204166319
16 REN NM_000537.4(REN):c.855C>T (p.Asp285=) SNV Likely benign 294952 rs778959609 1:204125411-204125411 1:204156283-204156283
17 REN NM_000537.4(REN):c.1076A>T (p.Lys359Ile) SNV Likely benign 294950 rs774166976 1:204124289-204124289 1:204155161-204155161
18 REN NM_000537.4(REN):c.744C>A (p.Asp248Glu) SNV Likely benign 294954 rs747881047 1:204125879-204125879 1:204156751-204156751
19 REN NM_000537.4(REN):c.492+12C>T SNV Benign 294958 rs548625937 1:204129676-204129676 1:204160548-204160548
20 REN NM_000537.4(REN):c.663G>A (p.Glu221=) SNV Benign 294955 rs34069565 1:204128553-204128553 1:204159425-204159425
21 REN NM_000537.4(REN):c.374-13G>A SNV Benign 294962 rs201387583 1:204129819-204129819 1:204160691-204160691
22 LOC107548112 NM_000537.4(REN):c.9A>T (p.Gly3=) SNV Benign 294965 rs5704 1:204135413-204135413 1:204166285-204166285
23 LOC107548112 NM_000537.4(REN):c.22C>G (p.Pro8Ala) SNV Benign 294964 rs61746500 1:204135400-204135400 1:204166272-204166272
24 REN NM_000537.4(REN):c.492+3A>G SNV Benign 294959 rs5706 1:204129685-204129685 1:204160557-204160557
25 REN NM_000537.4(REN):c.204A>C (p.Thr68=) SNV Benign 256379 rs5705 1:204131186-204131186 1:204162058-204162058
26 REN NM_000537.4(REN):c.630C>T (p.Phe210=) SNV Benign 294957 rs141706094 1:204128586-204128586 1:204159458-204159458
27 REN NM_000537.4(REN):c.649G>A (p.Gly217Arg) SNV Benign 294956 rs11571117 1:204128567-204128567 1:204159439-204159439
28 LOC107548112 NM_000537.4(REN):c.45G>A (p.Leu15=) SNV Benign 874781 1:204135377-204135377 1:204166249-204166249
29 REN NM_000537.4(REN):c.398C>T (p.Ser133Leu) SNV Benign 294960 rs756122840 1:204129782-204129782 1:204160654-204160654
30 LOC107548112 NM_000537.4(REN):c.97C>T (p.Arg33Trp) SNV Benign 873820 1:204135325-204135325 1:204166197-204166197
31 REN NM_000537.4(REN):c.1118C>T (p.Pro373Leu) SNV Benign 876615 1:204124247-204124247 1:204155119-204155119
32 REN NM_000537.4(REN):c.1032G>A (p.Thr344=) SNV Benign 876616 1:204124975-204124975 1:204155847-204155847
33 REN NM_000537.4(REN):c.961-5C>A SNV Benign 753683 rs186717113 1:204125051-204125051 1:204155923-204155923

UniProtKB/Swiss-Prot genetic disease variations for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4:

73
# Symbol AA change Variation ID SNP ID
1 REN p.Leu16Arg VAR_063770 rs121917743

Expression for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

Search GEO for disease gene expression data for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4.

Pathways for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

GO Terms for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

Sources for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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