Congenital Anomalies of Kidney and Urinary Tract 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Congenital Anomalies of Kidney and Urinary Tract 2

MalaCards integrated aliases for Congenital Anomalies of Kidney and Urinary Tract 2:

Name: Congenital Anomalies of Kidney and Urinary Tract 2 ⁵⁷ ⁷³ ²⁸ ⁵

Multicystic Renal Dysplasia, Bilateral ⁵⁷ ¹⁹ ⁷³ ⁷¹

Ureteropelvic Junction Obstruction ⁵⁷ ¹¹ ⁷³ ¹⁴

Cakut2 ⁵⁷ ¹¹ ⁷³ ¹⁴

Pelviureteric Junction Obstruction ⁵⁷ ⁷³ ¹²

Hydronephrosis Due to Pujo ⁵⁷ ¹⁹ ⁷³

Pujo ⁵⁷ ¹⁹ ⁷³

Upjo ⁵⁷ ⁷³

Mcrd ⁵⁷ ⁷³

Kidney and Urinary Tract, Anomalies, Congenital, Type 2 ³⁸

Congenital Anomalies of the Kidney and Urinary Tract 2 ¹¹

Obstruction of Pelviureteric Junction ⁷¹

Pelvi-Ureteric Junction Obstruction ¹⁹

Mrd ¹⁹

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
variable phenotype
some patients may be asymptomatic
variable age at onset (range prenatal to mid-adulthood)
some patients may need surgery or renal transplant
four unrelated families have been reported (last curated september 2015)

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0080207 DOID:0111145

OMIM® ⁵⁷ 143400

OMIM Phenotypic Series ⁵⁷ PS610805

MeSH ⁴³ D014564

MedGen ⁴⁰ C0521619 C1840451

SNOMED-CT via HPO ⁶⁹ 161891005 204949001 236423003 more

UMLS ⁷¹ C0521619 C1840451

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Summaries for Congenital Anomalies of Kidney and Urinary Tract 2

OMIM®: ⁵⁷ Congenital anomalies of the kidneys and urinary tract (CAKUT) encompasses a spectrum of developmental disorders of the urinary tract that can range from mild vesicoureteral reflux to severe renal agenesis. Other phenotypes include renal duplication, small kidneys, ureteropelvic junction obstruction, hydronephrosis, and renal dysplasia. These abnormalities can result in kidney damage, and possibly renal failure (summary by Vivante et al., 2015). For a discussion of genetic heterogeneity of CAKUT, see 610805. (143400) (Updated 08-Dec-2022)

MalaCards based summary: Congenital Anomalies of Kidney and Urinary Tract 2, also known as multicystic renal dysplasia, bilateral, is related to urinary tract infection and hydronephrosis, and has symptoms including flank pain An important gene associated with Congenital Anomalies of Kidney and Urinary Tract 2 is TBX18 (T-Box Transcription Factor 18), and among its related pathways/superpathways are Genes controlling nephrogenesis and Development of ureteric collection system. The drugs Pharmaceutical Solutions and Lamivudine have been mentioned in the context of this disorder. Affiliated tissues include kidney, smooth muscle and appendix, and related phenotypes are renal insufficiency and back pain

UniProtKB/Swiss-Prot: ⁷³ A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children.

GARD: ¹⁹ A rare lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.

Disease Ontology ¹¹ Cakut2: A CAKUT that has material basis in heterozygous mutation in the TBX18 gene on chromosome 6q14.

Ureteropelvic junction obstruction: A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter.

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Related Diseases for Congenital Anomalies of Kidney and Urinary Tract 2

Diseases in the Congenital Anomalies of Kidney and Urinary Tract 2 family:

Congenital Anomalies of Kidney and Urinary Tract 1

Congenital Anomalies of Kidney and Urinary Tract 3

Diseases related to Congenital Anomalies of Kidney and Urinary Tract 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 290)

#	Related Disease	Score	Top Affiliating Genes
1	urinary tract infection	31.0	UPK3A UMOD REN LCN2 HAVCR1
2	hydronephrosis	30.7	UPK3A TBX18 REN PAX2 LCN2 HAVCR1
3	multicystic dysplastic kidney	30.7	REN PAX2 AGTR2
4	pyelonephritis	30.6	UMOD LCN2 AQP2
5	acute kidney failure	30.5	UMOD REN LCN2 HAVCR1
6	anuria	30.5	REN LCN2 HAVCR1
7	wilms tumor 1	30.4	TBX18 REN PAX2 EYA1
8	ureterocele	30.4	ROBO2 PAX2
9	pyuria	30.3	UPK3A LCN2 HAVCR1
10	kidney hypertrophy	30.3	REN HAVCR1
11	renal hypoplasia	30.2	SIX5 ROBO2 PAX2 EYA1
12	obstructive nephropathy	30.1	REN LCN2 HAVCR1 AQP2 AGTR2
13	anus, imperforate	30.1	FREM2 FRAS1 BMP4
14	urinary tract obstruction	30.1	UPK3A UMOD REN PAX2 LCN2 HAVCR1
15	pyelitis	30.0	UMOD REN LCN2 HAVCR1
16	oligohydramnios	30.0	REN PAX2 FREM2 FRAS1
17	cystic kidney disease	29.9	UMOD REN PAX2 LCN2 HAVCR1 AQP2
18	diaphragmatic hernia, congenital	29.8	ROBO2 FREM2 FRAS1 BMP4
19	renal hypodysplasia/aplasia 3	29.6	UPK3A FREM2 FRAS1 DSTYK BMP4
20	autosomal dominant polycystic kidney disease	29.4	UMOD REN PAX2 LCN2 HAVCR1 AQP2
21	polycystic kidney disease	29.4	UMOD REN PAX2 LCN2 HAVCR1 AQP2
22	kidney disease	29.4	UMOD REN PAX2 LCN2 EYA1 AQP2
23	chronic kidney disease	29.1	UMOD TBX18 REN PAX2 LCN2 DSTYK
24	cakut	28.8	UPK3A UMOD TBX18 SIX5 ROBO2 REN
25	renal hypodysplasia/aplasia 1	28.6	UPK3A SIX5 ROBO2 PAX2 FREM2 FRAS1
26	vesicoureteral reflux	28.3	UPK3A UMOD TBX18 SIX5 ROBO2 REN
27	bilateral multicystic dysplastic kidney	11.4
28	hand-foot-genital syndrome	11.3
29	congenital anomalies of kidney and urinary tract 1	11.3
30	nephrolithiasis, calcium oxalate	10.9
31	leukemia, acute lymphoblastic	10.8
32	leukemia, acute myeloid	10.7
33	acute myeloid leukemia with recurrent genetic anomaly	10.7
34	ureteral obstruction	10.7
35	nephrolithiasis	10.7
36	leukemia	10.6
37	myeloma, multiple	10.6
38	myeloid leukemia	10.6
39	urolithiasis	10.6
40	childhood acute lymphocytic leukemia	10.5
41	renal dysplasia	10.5
42	leukemia, acute lymphoblastic 3	10.5
43	b-lymphoblastic leukemia/lymphoma	10.5
44	leukemia, chronic lymphocytic	10.5
45	ileus	10.5
46	skin tag	10.5
47	muscle hypertrophy	10.4
48	wilms tumor 5	10.4
49	renal fibrosis	10.4
50	49, xxxxy syndrome	10.4

Graphical network of the top 20 diseases related to Congenital Anomalies of Kidney and Urinary Tract 2:

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Symptoms & Phenotypes for Congenital Anomalies of Kidney and Urinary Tract 2

Human phenotypes related to Congenital Anomalies of Kidney and Urinary Tract 2:

³⁰ (show all 9)

#	Description	HPO Frequency	HPO Source Accession
1	renal insufficiency ³⁰	Very rare (1%)	HP:0000083
2	back pain ³⁰	Very rare (1%)	HP:0003418
3	hydronephrosis ³⁰	Very rare (1%)	HP:0000126
4	renal hypoplasia ³⁰	Very rare (1%)	HP:0000089
5	ureteropelvic junction obstruction ³⁰	Very rare (1%)	HP:0000074
6	congenital megaureter ³⁰	Very rare (1%)	HP:0008676
7	renal dysplasia ³⁰	Very rare (1%)	HP:0000110
8	hyperechogenic kidneys ³⁰	Very rare (1%)	HP:0004719
9	flank pain ³⁰	Very rare (1%)	HP:0030157

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Genitourinary Kidneys:
hydronephrosis
renal dysplasia
hypoplastic kidneys
renal asymmetry
pelviectasis
more

Genitourinary:
flank pain

Genitourinary Bladder:
ureteropelvic junction obstruction

Genitourinary Ureters:
megaureter

Clinical features from OMIM®:

143400 (Updated 08-Dec-2022)

UMLS symptoms related to Congenital Anomalies of Kidney and Urinary Tract 2:

flank pain

MGI Mouse Phenotypes related to Congenital Anomalies of Kidney and Urinary Tract 2:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	renal/urinary system	MP:0005367	10.18	AGTR2 AQP2 BMP4 EYA1 FRAS1 FREM2
2	growth/size/body region	MP:0005378	10.07	AGTR2 AQP2 BMP4 DTX4 EYA1 FRAS1
3	cardiovascular system	MP:0005385	9.93	AGTR2 BMP4 DTX4 EYA1 FRAS1 FREM2
4	muscle	MP:0005369	9.92	AGTR2 BMP4 EYA1 FREM2 REN ROBO2
5	respiratory system	MP:0005388	9.61	BMP4 DTX4 EYA1 FRAS1 FREM2 HAVCR1
6	mortality/aging	MP:0010768	9.44	AGTR2 AQP2 BMP4 DTX4 EYA1 FRAS1

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Drugs & Therapeutics for Congenital Anomalies of Kidney and Urinary Tract 2

Drugs for Congenital Anomalies of Kidney and Urinary Tract 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Pharmaceutical Solutions

Phase 1

2

Lamivudine

Approved, Investigational

134678-17-4

60825

3

Ibuprofen

Approved

15687-27-1

3672

Synonyms:

(+-)-2-(p-Isobutylphenyl)propionate

(+-)-2-(p-Isobutylphenyl)propionic acid

(+-)-alpha-Methyl-4-(2-methylpropyl)benzeneacetate

(+-)-alpha-Methyl-4-(2-methylpropyl)benzeneacetic acid

(+-)-a-Methyl-4-(2-methylpropyl)benzeneacetate

(+-)-a-Methyl-4-(2-methylpropyl)benzeneacetic acid

(+-)-Ibuprofen

(+-)-p-Isobutylhydratropate

(+-)-p-Isobutylhydratropic acid

(+-)-Α-methyl-4-(2-methylpropyl)benzeneacetate

(+-)-Α-methyl-4-(2-methylpropyl)benzeneacetic acid

(±)-2-(P-ISOBUTYLPHENYL)PROPIONIC ACID

(±)-IBUPROFEN

(±)-P-ISOBUTYLHYDRATROPIC ACID

(±)-Α-METHYL-4-(2-METHYLPROPYL)BENZENEACETIC ACID

(4-Isobutylphenyl)-alpha-methylacetate

(4-Isobutylphenyl)-alpha-methylacetic acid

(4-Isobutylphenyl)-a-methylacetate

(4-Isobutylphenyl)-a-methylacetic acid

(4-Isobutylphenyl)-α-methylacetate

(4-Isobutylphenyl)-α-methylacetic acid

(RS)-Ibuprofen

2-(4-Isobutylphenyl)propanoate

2-(4-Isobutylphenyl)propanoic acid

4-Isobutylhydratropate

4-Isobutylhydratropic acid

a-(4-Isobutylphenyl)propionate

a-(4-Isobutylphenyl)propionic acid

a-(p-Isobutylphenyl)propionate

a-(p-Isobutylphenyl)propionic acid

ACHES-N-PAIN

Actiprofen

Adran

Advil

ADVIL LIQUI-GELS

ADVIL MIGRAINE LIQUI-GELS

alpha-(4-Isobutylphenyl)propionate

alpha-(4-Isobutylphenyl)propionic acid

alpha-(p-Isobutylphenyl)propionate

alpha-(p-Isobutylphenyl)propionic acid

alpha-Methyl-4-(2-methylpropyl)benzeneacetic acid

alpha-p-Isobutylphenylpropionate

alpha-p-Isobutylphenylpropionic acid

Aluminum salt ibuprofen

Amersol

Amibufen

ANADIN JOINT PAIN

ANADIN LIQUIFAST

ANADIN PERIOD PAIN RELIEF

ANADIN ULTRA

Anco

Andran

Anflagen

Apo-Ibuprofen

Apsifen

APSIFEN-F

ARTHROFEN 200

ARTHROFEN 400

ARTHROFEN 600

Artril 300

Bluton

Brufanic

Brufen

BRUFEN RET

Brufort

Buburone

Butylenin

Calcium salt ibuprofen

CALDOLOR

CAP-PROFEN

CHILDREN'S ADVIL

CHILDREN'S ADVIL-FLAVORED

CHILDREN'S ELIXSURE

CHILDREN'S IBUPROFEN

CHILDREN'S MOTRIN

CODAFEN CONTINUS

Codral

CO-OP

CUPROFEN FOR CHILD

CUPROFEN PLUS

DEEP RELIEF

Dolgin

Dolgirid

Dolgit

Dolocyl

Dolo-dolgit

Duralbuprofen

Ebufac

Emodin

Epobron

Femadon

FEMAFEN

FENBID

FENBID FTE

Fenbid Spansule

FENPAED

FEVERFEN

FLEXIMEX

Haltran

I.V. solution, ibuprofen

IB-100

Ibu

Ibu-attritin

IBUCALM

IBUDERM

IBUFAC

Ibufen

IBUGEL

IBUGEL FTE

IBULAR

IBULEVE

IBUMED

Ibumetin

IBUMOUSSE

IBUPRIN

Ibuprocin

IBUPROFEN

Ibuprofen i.v. solution

Ibuprofen zinc

Ibuprofen, (+-)-isomer

Ibuprofen, (R)-isomer

Ibuprofen, (S)-isomer

Ibuprofen, aluminum salt

Ibuprofen, calcium salt

Ibuprofen, copper (2+) salt

Ibuprofen, magnesium salt

Ibuprofen, potassium salt

Ibuprofen, sodium salt

Ibuprofen, zinc salt

Ibuprofene

Ibuprofeno

Ibuprofenum

Ibuprofen-zinc

IBUPROHM

IBUPROPHEN

IBU-SLO

IBUSPRAY

IBU-TAB

IBU-TAB 200

Ibutid

IBUTIME

Ifen

Inabrin

Inoven

IP 82

IP-82

ISISFEN

JUNIFEN

JUNIOR STRENGTH ADVIL

JUNIOR STRENGTH IBUPROFEN

JUNIOR STRENGTH MOTRIN

Lamidon

Lebrufen

LIDIFEN

LIDIFEN-F

Liptan

LOBUFEN

M01AE01

Magnesium salt ibuprofen

MANDAFEN

MANORFEN

MAXA-GESIC

Medipren

MIDOL

Midol 200

MIDOL LIQUID GELS

MIGRAFEN

Motrin

MOTRIN IB

MOTRIN MIGRAINE PAIN

Mynosedin

Napacetin

NeoProfen

Nobfelon

Nobfen

Nobgen

NOVAPRIN

Novogent N

Novoprofen

NSC-256857

Nuprin

Nurofen

NUROFEN 400

NUROFEN BACK PAIN SR

NUROFEN CHILD

NUROFEN FOR CHILD

NUROFEN PLUS

NUROFEN RECOVERY

NUROFEN SINUS

NUROFEN SOLB

ORBIFEN

PACIFENE

Pantrop

Para-Isobutylhydratropic Acid

PAXOFEN

PEDEA

Pediaprofen

Pedia-Profen

PEDIATRIC ADVIL

PHENSIC

PHOR PAIN

PHORPAIN

PHORPAIN MAX STRGH

p-Isobutyl-2-phenylpropionate

p-Isobutyl-2-phenylpropionic acid

p-Isobutylhydratropate

p-Isobutylhydratropic acid

Potassium salt ibuprofen

PROFEN

PROFLEX

PROFLEX SR

Rafen

RD 13621

Rebugen

RELCOFEN

RIMAFEN

Roidenin

Rufen

Salprofen

Salt ibuprofen, magnesium

Salt ibuprofen, sodium

Salt ibuprofen, zinc

Seclodin

Sodium salt ibuprofen

Suspren

Tabalon

TAB-PROFEN

Trauma dolgit gel

Trauma-dolgit gel

TraumaDolgit gel

Trendar

U-18573

Urem

Zinc salt ibuprofen

Α-(4-isobutylphenyl)propionate

Α-(4-isobutylphenyl)propionic acid

Α-(p-isobutylphenyl)propionate

Α-(p-isobutylphenyl)propionic acid

4

Ropivacaine

Approved

84057-95-4

71273 175805

5

Analgesics

6

Antirheumatic Agents

7

Cyclooxygenase Inhibitors

8

Anti-Inflammatory Agents, Non-Steroidal

9

Analgesics, Non-Narcotic

10

Anti-Inflammatory Agents

11

Anesthetics, Local

12

Anesthetics

Interventional clinical trials:

(show all 13)

#	Name	Status	NCT ID	Phase	Drugs
1	Renal Anhydramnios Fetal Therapy (RAFT) Trial	Recruiting	NCT03101891	Phase 1	Isotonic fluid
2	Ureteropelvic Junction Obstruction in Early Childhood: Comparison of Surgical Therapy and Surveillance in Children With Scintigraphically Prooved Obstruction. A Prospective, Randomized, Controlled Multi-Center Study	Unknown status	NCT00444431
3	Using Buccal Mucosal Graft as an Augmention Graft for Complex Cases of Iatrogenic Pelviureteric Junction Obstruction and Long Segment Ureteric Stricture Disease.	Unknown status	NCT04503330
4	Determination of the "Tissue Transit Time" (TTT) in the MAG3-Tc99 Diuretic Renogram for Risk Stratification of Infants With Ureteropelvic Junction Obstruction - a Multicentric Prospective Observational Study	Completed	NCT03311256
5	Dismembered Pyeloplasty With and Without After Coming Stent in Neonatal Ureteropelvic Junction Obstruction	Completed	NCT02138877
6	Double-blind, Placebo-controlled Randomized Controlled Trial of NSAID Prior to Ureteral Stent Removal in a Pediatric Population	Completed	NCT02140970		Ibuprofen;Placebo
7	Diagnostic Relevance of Laser Confocal Microscopy During Reno-ureteroscopy in the Context of the Screening and Follow-up of Upper Urinary Tract Tumors	Completed	NCT02276924
8	Pediatric Robotic Versus Open Pyeloplasty: A Pilot Randomized Control Study	Recruiting	NCT04884945
9	Cortical Transit Time on Diuretic Renogram as an Early Marker of Significant Obstruction in Antenatally Detected Uretero-pelvic Junction Syndrome	Recruiting	NCT02812212
10	Prospective Randomized Trial of Indwelling Double-J Ureteral Stent Versus Externalized Modified-Salle Stent for Pyeloplasty	Terminated	NCT02713633
11	The Efficacy and Safety of Local Anesthetic Infusion With Ropivacaine for the Management of Pain After Surgical Correction of Ureteropelvic Junction Stenosis	Terminated	NCT00930046
12	Comparison of Dynamic Contrast Enhanced CT and Diuretic Renogram in The Evaluation of Ureteropelvic Junction Obstruction	Withdrawn	NCT00199472
13	The Correlation Between Renal Injury and Biomarkers in Pediatric Ureteropelvic Junction Obstruction Patients	Withdrawn	NCT01711996

Search NIH Clinical Center for Congenital Anomalies of Kidney and Urinary Tract 2

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Genetic Tests for Congenital Anomalies of Kidney and Urinary Tract 2

Genetic tests related to Congenital Anomalies of Kidney and Urinary Tract 2:

#	Genetic test	Affiliating Genes
1	Congenital Anomalies of Kidney and Urinary Tract 2 ²⁸	TBX18

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Anatomical Context for Congenital Anomalies of Kidney and Urinary Tract 2

Organs/tissues related to Congenital Anomalies of Kidney and Urinary Tract 2:

MalaCards : Kidney, Smooth Muscle, Appendix, Neutrophil, Cortex, Spinal Cord, Testis

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Publications for Congenital Anomalies of Kidney and Urinary Tract 2

Articles related to Congenital Anomalies of Kidney and Urinary Tract 2:

(show top 50) (show all 2631)

#	Title	Authors	PMID	Year
1	Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. ⁶² ⁵⁷ ⁵	Vivante A...Hildebrandt F	26235987	2015
2	Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia. ⁶² ⁵⁷	Groenen PM...Van de Ven WJ	9598309	1998
3	Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia. ⁶² ⁵⁷	Groenen PM...Van de Ven WJ	8954795	1996
4	Isolation of cosmids corresponding to the chromosome breakpoints of a de novo autosomal translocation, t(6;19)(p21;q13.1), in a patient with multicystic renal dysplasia. ⁶² ⁵⁷	Groenen PM...Van de Ven WJ	9067426	1996
5	Evidence for genetic heterogeneity in hereditary hydronephrosis caused by pelvi-ureteric junction obstruction, with one locus assigned to chromosome 6p. ⁶² ⁵⁷	Izquierdo L...Connor JM	1634233	1992
6	HLA linkage with familial vesicoureteral reflux and familial pelvi-ureteric junction obstruction. ⁶² ⁵⁷	Mackintosh P...Heath DA	2595723	1989
7	Familial hydronephrosis unlinked to the HLA complex. ⁵⁷	Santava A...Scheinar J	9128928	1997
8	Further evidence of genetic heterogeneity in hereditary hydronephrosis. ⁵⁷	McHale D...Burn J	9147880	1996
9	Renal agenesis, multicystic dysplasia, and uretero-pelvic junction obstruction--a common pathogenesis? ⁵⁷	Robson WL...Leung AK	7856668	1994
10	Hereditary hydronephrosis and the short arm of chromosome 6. ⁵⁷	Fryns JP...Vandenberghe K	8357406	1993
11	Familial hydronephrosis. ⁵⁷	Grosse FR...Opitz JM	4726037	1973
12	Familial urinary tract anomalies. ⁵⁷	Simpson JL...German J	5467948	1970
13	Unilateral hereditary hydronephrosis: a report of four cases in three consecutive generations. ⁵⁷	JEWELL JH...BUCHERT WI	14451767	1962
14	Familial hydronephrosis. ⁵⁷	RAFFLE RB	13230561	1955
15	Hereditary unilateral hydronephrosis. ⁵⁷	CANNON JF	13208046	1954
16	Hydronephrosis due to aberrant vessels; remarkable familial incidence with report of cases. ⁵⁷	AARON G...ROBBINS MA	18895257	1948
17	Congenital Bilateral Megalo-ureters with Hydronephrosis: A Remarkable Family History. ⁵⁷	Mackay H	19993137	1945
18	Pyeloplasty with the Kangduo Surgical Robot vs the da Vinci Si Robotic System: Preliminary Results. ⁶²	Fan S...Zhou L	35864812	2022
19	Giant neglected hydronephrosis in an adult diagnosed after a blunt trauma: A case report. ⁶²	Al-Hajjaj M...Alqralleh M	36164378	2022
20	Role of urinary Neutrophil Gelatinase-Associated Lipocalin (NGAL), Monocyte Chemoattractant Protein-1(MCP-1), and Interleukin-6(IL-6) as biomarkers in pediatric patients with hydronephrosis. ⁶²	Suchiang B...Sinha A	36057907	2022
21	Multicenter comparative study of open, laparoscopic, and robotic pyeloplasty in the pediatric population for the treatment of ureteropelvic junction obstruction (UPJO). ⁶²	Gonzalez ST...Corbetta JP	36083265	2022
22	Rare perinephric myxoid pseudotumor of fat causing ureteropelvic junction obstruction: a case report. ⁶²	Amato M...Manferrari F	36378461	2022
23	Comparing the Effects of 2D and 3D Imaging Systems on Laparoscopic Pyeloplasty Outcomes in the Treatment of Adult Ureteropelvic Junction Obstruction. ⁶²	Adanur S...Polat O	35349367	2022
24	Robotic-assisted laparoscopic pyeloplasty (RALP), for ureteropelvic junction obstruction (UPJO), is an alternative to open pyeloplasty in the pediatric population. ⁶²	Cohen S...Chertin B	34859365	2022
25	Comparing accuracy of urinary biomarkers in differentiation of ureteropelvic junction obstruction from nonobstructive dilatation in children. ⁶²	Sangeetha G...Babu R	35237864	2022
26	Laparoscopic and robot-assisted ureterocalicostomy for treatment of primary and recurrent pelvi-ureteric junction obstruction in children: a multicenter comparative study with laparoscopic and robot-assisted Anderson-Hynes pyeloplasty. ⁶²	Esposito C...Escolino M	35861906	2022
27	Latitudes and attitudes: A multinational study of laparoscopic pyeloplasty in children. ⁶²	Echeverria P...Lopez PJ	36336623	2022
28	Fluoroscopy-guided percutaneous antegrade approach for ureteral stent placement in children: a single-center experience. ⁶²	Herdem N...Oz Gergin O	34259018	2022
29	Do ureteral stent diameter and length or patient demographics play a role in stent encrustation? ⁶²	Connelly ZM...Khater N	35426789	2022
30	Laparoscopic correction of hydronephrosis caused by left paraduodenal hernia in a child with cryptorchism: A case report. ⁶²	Wang X...Guan Y	36186215	2022
31	Laparoscopic versus robotic-assisted laparoscopic pyeloplasty in infants and young children. ⁶²	Sun L...Tao C	36192267	2022
32	Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract. ⁶²	Zheng B...Hildebrandt F	34473308	2022
33	Laparoscopic Versus Robot-Assisted Pyeloplasty in Adults-A Single-Center Experience. ⁶²	Carmona O...Zilberman DE	36294723	2022
34	Pelviureteric junction obstruction of the ipsilateral kidney caused by hydronephrosis secondary to crossed fused renal ectopia. ⁶²	Kato T...Yasui T	36090939	2022
35	Contemporary diagnosis and management of pelvi-ureteric junction obstruction. ⁶²	Rai A...Smith A	35044033	2022
36	A systematic review and metaanalysis of open, conventional laparoscopic and robot-assisted laparoscopic techniques for re-do pyeloplasty for recurrent uretero pelvic junction obstruction in children. ⁶²	Chandrasekharam VVS...Babu R	36117037	2022
37	A Comparative Analysis of Robot-Assisted Laparoscopic Pyeloplasty in Pediatric and Adult Patients: Does Age Matter? ⁶²	Kang B...Song SH	36233520	2022
38	Assistant port is unnecessary for robotic-assisted laparoscopic pyeloplasty in children: a comparative cohort study. ⁶²	Danacioglu YO...Silay MS	35849174	2022
39	The sequence of intervention determines the risk of early postoperative acute kidney injury in infants with bilateral ureteropelvic junction obstruction. ⁶²	Elbaset MA...Abdelhalim A	36050246	2022
40	Early detection of ureteropelvic junction obstruction in neonates with prenatal diagnosis of renal pelvis dilatation using 1H NMR urinary metabolomics. ⁶²	Scalabre A...Mure PY	35927301	2022
41	A systematic review of underlying genetic factors associated with ureteropelvic junction obstruction in stenotic human tissue. ⁶²	Isali I...Woo L	35987676	2022
42	[Laparoscopic pyeloplasty combined with ultrasonic lithotripsy via nephroscope for treatment of ureteropelvic junction obstruction with renal calculi]. ⁶²	An LZ...Huang XB	35950402	2022
43	Perioperative management of surgical correction of ureteropelvic junction obstruction in children: A comparison of robotic-assisted versus conventional minimally invasive techniques. ⁶²	Julien-Marsollier F...Dahmani S	35476877	2022
44	Factors predicting improvement of differential renal function after pyeloplasty in children of ureteropelvic junction obstruction. ⁶²	Li Y...Wang T	35842393	2022
45	Comparison of Secondary and Primary Minimally Invasive Pyeloplasty in the Treatment of Ureteropelvic Junction Obstruction: A Systematic Review and Meta-Analysis. ⁶²	Du T...Shang P	35319279	2022
46	The Use of Neutrophil Gelatinase-Associated Lipocalin (NGAL) as a Diagnostic and Prognostic Biomarker in Urinary Tract Obstruction: a Systematic Review. ⁶²	Brewin A...Somani B	35678987	2022
47	Ureteropelvic junction obstructions: Is side a prognostic factor? ⁶²	Ozaydin S...Celebi S	35975387	2022
48	Utilidad del Renograma Diurético tras la Pieloplastia en la Población Pediátrica. ¿Es Necesario de Rutina? ⁶²	Martin Alelu R...Gomez Fraile A	36138502	2022
49	Single-port robot-assisted laparoscopic pyeloplasty in an infant: A video case report with 9 months follow up. ⁶²	Liu Y...Zhang W	35995661	2022
50	Randomized controlled trial of NSAID prior to cystoscopic ureteral stent removal in a pediatric population. ⁶²	Rove KO...Campbell JB	35987678	2022

Sources

Genes for Congenital Anomalies of Kidney and Urinary Tract 2

Genes related to Congenital Anomalies of Kidney and Urinary Tract 2 (1 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TBX18	T-Box Transcription Factor 18	Protein Coding	1314.32	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	26235987
2	SIGLEC5	Sialic Acid Binding Ig Like Lectin 5	Protein Coding	7.67	DISEASES inferred ¹⁴ ¹⁴
3	MIRLET7A1	MicroRNA Let-7a-1	RNA Gene	6.61	DISEASES inferred ¹⁴ ¹⁴
4	DSTYK	Dual Serine/Threonine And Tyrosine Protein Kinase	Protein Coding	6.55	DISEASES inferred ¹⁴
5	PAX2	Paired Box 2	Protein Coding	6.26	DISEASES inferred ¹⁴
6	LCN2	Lipocalin 2	Protein Coding	6.05	DISEASES inferred ¹⁴
7	HAVCR1	Hepatitis A Virus Cellular Receptor 1	Protein Coding	5.91	DISEASES inferred ¹⁴
8	EYA1	EYA Transcriptional Coactivator And Phosphatase 1	Protein Coding	5.85	DISEASES inferred ¹⁴
9	UPK3A	Uroplakin 3A	Protein Coding	5.83	DISEASES inferred ¹⁴
10	FRAS1	Fraser Extracellular Matrix Complex Subunit 1	Protein Coding	5.53	DISEASES inferred ¹⁴
11	ROBO2	Roundabout Guidance Receptor 2	Protein Coding	5.53	DISEASES inferred ¹⁴
12	REN	Renin	Protein Coding	5.51	DISEASES inferred ¹⁴
13	FREM2	FRAS1 Related Extracellular Matrix 2	Protein Coding	5.5	DISEASES inferred ¹⁴
14	UMOD	Uromodulin	Protein Coding	5.5	DISEASES inferred ¹⁴
15	SIX5	SIX Homeobox 5	Protein Coding	5.42	DISEASES inferred ¹⁴
16	AGTR2	Angiotensin II Receptor Type 2	Protein Coding	5.28	DISEASES inferred ¹⁴
17	DTX4	Deltex E3 Ubiquitin Ligase 4	Protein Coding	5.1	DISEASES inferred ¹⁴
18	AQP2	Aquaporin 2	Protein Coding	5.08	DISEASES inferred ¹⁴
19	BMP4	Bone Morphogenetic Protein 4	Protein Coding	5.02	DISEASES inferred ¹⁴

Sources

Variations for Congenital Anomalies of Kidney and Urinary Tract 2

ClinVar genetic disease variations for Congenital Anomalies of Kidney and Urinary Tract 2:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TBX18	NM_001080508.3(TBX18):c.1010del (p.Gly337fs)	DEL	Pathogenic	208527	rs869320679	GRCh37: 6:85448304-85448304 GRCh38: 6:84738586-84738586
2	TBX18	NM_001080508.3(TBX18):c.1570C>T (p.His524Tyr)	SNV	Pathogenic	208528	rs760905589	GRCh37: 6:85446657-85446657 GRCh38: 6:84736939-84736939
3	TBX18	NM_001080508.3(TBX18):c.487A>G (p.Lys163Glu)	SNV	Pathogenic	208529	rs797045022	GRCh37: 6:85472272-85472272 GRCh38: 6:84762554-84762554
4	TBX18	NM_001080508.3(TBX18):c.692_693insT (p.Glu233fs)	INSERT	Pathogenic	1177415		GRCh37: 6:85466494-85466495 GRCh38: 6:84756776-84756777
5	TBX18	NM_001080508.3(TBX18):c.662G>A (p.Arg221His)	SNV	Uncertain Significance	1704362		GRCh37: 6:85466525-85466525 GRCh38: 6:84756807-84756807
6	TBX18	NM_001080508.3(TBX18):c.272A>C (p.Asp91Ala)	SNV	Likely Benign	1065573		GRCh37: 6:85473628-85473628 GRCh38: 6:84763910-84763910
7	TBX18	NM_001080508.3(TBX18):c.142G>A (p.Gly48Arg)	SNV	Benign	802247	rs172562	GRCh37: 6:85473758-85473758 GRCh38: 6:84764040-84764040

UniProtKB/Swiss-Prot genetic disease variations for Congenital Anomalies of Kidney and Urinary Tract 2:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	TBX18	p.Lys163Glu	VAR_074629	rs797045022
2	TBX18	p.His524Tyr	VAR_074631	rs760905589

Sources

Expression for Congenital Anomalies of Kidney and Urinary Tract 2

Search GEO for disease gene expression data for Congenital Anomalies of Kidney and Urinary Tract 2.

Sources

Pathways for Congenital Anomalies of Kidney and Urinary Tract 2

Pathways related to Congenital Anomalies of Kidney and Urinary Tract 2 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Genes controlling nephrogenesis ⁷⁴	10.98	ROBO2 PAX2 EYA1
2	Development of ureteric collection system ⁷⁴	10.91	PAX2 FRAS1 EYA1 BMP4
3	GDNF/RET signaling axis ⁷⁴	10.25	ROBO2 PAX2 EYA1 BMP4 AGTR2

Sources

GO Terms for Congenital Anomalies of Kidney and Urinary Tract 2

Biological processes related to Congenital Anomalies of Kidney and Urinary Tract 2 according to GeneCards Suite gene sharing:

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of blood pressure	GO:0008217	10.04	UMOD REN AGTR2
2	positive regulation of epithelial cell proliferation	GO:0050679	10.03	PAX2 EYA1 BMP4
3	anatomical structure development	GO:0048856	9.95	PAX2 EYA1 BMP4
4	branching involved in ureteric bud morphogenesis	GO:0001658	9.95	PAX2 EYA1 BMP4
5	ureteric bud development	GO:0001657	9.85	ROBO2 EYA1 BMP4
6	sinoatrial node development	GO:0003163	9.84	TBX18 BMP4
7	mesenchymal to epithelial transition involved in metanephros morphogenesis	GO:0003337	9.83	BMP4 PAX2
8	mesodermal cell fate specification	GO:0007501	9.81	EYA1 PAX2
9	kidney development	GO:0001822	9.81	BMP4 FREM2 REN UMOD UPK3A
10	ureter development	GO:0072189	9.8	TBX18 PAX2
11	metanephros development	GO:0001656	9.8	ROBO2 EYA1 BMP4
12	cochlea morphogenesis	GO:0090103	9.8	TBX18 PAX2 EYA1
13	metanephric distal convoluted tubule development	GO:0072221	9.73	PAX2 UMOD
14	positive regulation of metanephric glomerulus development	GO:0072300	9.67	PAX2 AGTR2
15	regulation of metanephros size	GO:0035566	9.56	PAX2 AGTR2
16	mesonephros development	GO:0001823	9.43	REN PAX2 BMP4
17	metanephric collecting duct development	GO:0072205	9.1	PAX2 BMP4 AQP2

Sources

Sources for Congenital Anomalies of Kidney and Urinary Tract 2

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

CAKUT2 MCID: CNG499 MIFTS: 54	Congenital Anomalies of Kidney and Urinary Tract 2 (CAKUT2) Categories: Genetic diseases, Nephrological diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Congenital Anomalies of Kidney and Urinary Tract 2 (CAKUT2)

Aliases & Classifications for Congenital Anomalies of Kidney and Urinary Tract 2

MalaCards integrated aliases for Congenital Anomalies of Kidney and Urinary Tract 2:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Congenital Anomalies of Kidney and Urinary Tract 2

Related Diseases for Congenital Anomalies of Kidney and Urinary Tract 2

Diseases in the Congenital Anomalies of Kidney and Urinary Tract 2 family:

Diseases related to Congenital Anomalies of Kidney and Urinary Tract 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Congenital Anomalies of Kidney and Urinary Tract 2:

Symptoms & Phenotypes for Congenital Anomalies of Kidney and Urinary Tract 2

Human phenotypes related to Congenital Anomalies of Kidney and Urinary Tract 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Congenital Anomalies of Kidney and Urinary Tract 2:

MGI Mouse Phenotypes related to Congenital Anomalies of Kidney and Urinary Tract 2:

Drugs & Therapeutics for Congenital Anomalies of Kidney and Urinary Tract 2

Drugs for Congenital Anomalies of Kidney and Urinary Tract 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Congenital Anomalies of Kidney and Urinary Tract 2

Genetic tests related to Congenital Anomalies of Kidney and Urinary Tract 2:

Anatomical Context for Congenital Anomalies of Kidney and Urinary Tract 2

Organs/tissues related to Congenital Anomalies of Kidney and Urinary Tract 2:

Publications for Congenital Anomalies of Kidney and Urinary Tract 2

Articles related to Congenital Anomalies of Kidney and Urinary Tract 2:

Genes for Congenital Anomalies of Kidney and Urinary Tract 2

Genes related to Congenital Anomalies of Kidney and Urinary Tract 2 (1 elite genes):

Variations for Congenital Anomalies of Kidney and Urinary Tract 2

ClinVar genetic disease variations for Congenital Anomalies of Kidney and Urinary Tract 2:

UniProtKB/Swiss-Prot genetic disease variations for Congenital Anomalies of Kidney and Urinary Tract 2:

Expression for Congenital Anomalies of Kidney and Urinary Tract 2

Pathways for Congenital Anomalies of Kidney and Urinary Tract 2

Pathways related to Congenital Anomalies of Kidney and Urinary Tract 2 according to GeneCards Suite gene sharing:

GO Terms for Congenital Anomalies of Kidney and Urinary Tract 2

Biological processes related to Congenital Anomalies of Kidney and Urinary Tract 2 according to GeneCards Suite gene sharing:

Sources for Congenital Anomalies of Kidney and Urinary Tract 2