Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Nephrological diseases Endocrine diseases Blood diseases

See all MalaCards categories (disease lists)

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

SNOMED-CT via HPO ⁶⁸ 165397008 236403004 25821008 more

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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.

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Related Diseases for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

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, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	autosomal dominant tubulointerstitial kidney disease due to ren mutations	11.4
2	ren-related kidney disease	11.4
3	autosomal dominant tubulointerstitial kidney disease	11.3
4	autosomal dominant tubulointerstitial kidney disease - ren	11.2
5	nephronophthisis	11.2

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

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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 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)

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

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

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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

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Anatomical Context for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

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

⁴⁰

Kidney

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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	Zivna M...Kmoch S	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	Stiburkova B...Kmoch S	12634862	2003
3	Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. ⁵⁷	Hodanova K...Kmoch S	16164624	2005

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Genes for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

Genes related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	REN	Renin	Protein Coding	1650	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹
2	LOC107548112	REN Promoter And Enhancer Region	Biological Region	425	Pathogenic ⁶ Likely pathogenic ⁶	19664745 12634862

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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

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Expression for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

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

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Pathways for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

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GO Terms for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

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Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 (ADTKD4)

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

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

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

Related Diseases for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

Diseases in the Autosomal Dominant Tubulointerstitial Kidney Disease family:

Diseases related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

Anatomical Context for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

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

Publications for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

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

Genes for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

Genes related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 (2 elite genes):

Variations for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4

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

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

Expression 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