RTD
MCID: RNL028
MIFTS: 48

Renal Tubular Dysgenesis (RTD)

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

Aliases & Classifications for Renal Tubular Dysgenesis

MalaCards integrated aliases for Renal Tubular Dysgenesis:

Name: Renal Tubular Dysgenesis 57 53 25 59 75 37 13 55
Primitive Renal Tubule Syndrome 57 53 25 59
Rtd 57 53 75
Allanson Pantzar Mcleod Syndrome 25 73
Renal Tubular Dysgenesis of Genetic Origin 59
Dysgenesis, Renal Tubular 40
Renotubular Dysgenesis 59

Characteristics:

Orphanet epidemiological data:

59
renal tubular dysgenesis
Inheritance: Autosomal recessive,Not applicable;
renal tubular dysgenesis of genetic origin
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
affected infants often die in utero or in the postnatal period


HPO:

32
renal tubular dysgenesis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Renal Tubular Dysgenesis

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3033Disease definitionRenal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS; see this term) or inherited in an autosomal recessive manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Renal Tubular Dysgenesis, also known as primitive renal tubule syndrome, is related to oligohydramnios and kidney disease. An important gene associated with Renal Tubular Dysgenesis is AGT (Angiotensinogen), and among its related pathways/superpathways are Renin-angiotensin system and p70S6K Signaling. Affiliated tissues include kidney, lung and bone, and related phenotypes are hypertelorism and microcephaly

Genetics Home Reference : 25 Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth. In particular, kidney structures called proximal tubules are absent or underdeveloped. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete everything else into the urine. Without functional proximal tubules, the kidneys cannot produce urine (a condition called anuria).

OMIM : 57 Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype) (Gribouval et al., 2005). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. (267430)

UniProtKB/Swiss-Prot : 75 Renal tubular dysgenesis: Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype).

Related Diseases for Renal Tubular Dysgenesis

Diseases in the Renal Tubular Dysgenesis family:

Renal Tubular Dysgenesis Due to Twin-Twin Transfusion

Diseases related to Renal Tubular Dysgenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 oligohydramnios 29.7 REN AGTR1 AGT ACE
2 kidney disease 29.3 ACE AGT AGTR1 REN
3 renal tubular dysgenesis due to twin-twin transfusion 12.3
4 drug-related renal tubular dysgenesis 12.3
5 hemochromatosis, neonatal 10.2
6 potter's syndrome 10.1 AGT REN
7 hyperaldosteronism, familial, type i 10.1 AGT REN
8 gitelman syndrome 10.0 AGT REN
9 small cell cancer of the lung 10.0
10 lung cancer 10.0
11 polycythemia vera 10.0
12 meningococcal infection 10.0 AGT AGTR1
13 congenital hepatic fibrosis 10.0 AGTR1 REN
14 pediatric hypertension 10.0 ACE AGT
15 hyporeninemic hypoaldosteronism 10.0 ACE REN
16 hypoaldosteronism 10.0 ACE REN
17 renal fibrosis 10.0 AGTR1 REN
18 polycystic kidney disease 10.0 ACE REN
19 renal artery obstruction 9.9 ACE REN
20 microcolon 9.9
21 meconium ileus 9.9
22 microcephaly 9.9
23 nephrocalcinosis 9.9
24 nephronophthisis 9.9
25 intestinal perforation 9.9
26 ischemia 9.9
27 juvenile nephronophthisis 9.9
28 hypertension, diastolic 9.9 ACE REN
29 hypertensive encephalopathy 9.9 ACE REN
30 hypertensive retinopathy 9.9 ACE REN
31 orthostatic proteinuria 9.9 ACE REN
32 malignant essential hypertension 9.9 ACE REN
33 hepatorenal syndrome 9.9 ACE REN
34 pure autonomic failure 9.9 ACE REN
35 pseudohyperkalemia, familial, 2, due to red cell leak 9.9 ACE REN
36 heart valve disease 9.9 ACE REN
37 carotid artery disease 9.9 ACE REN
38 hypokalemia 9.9 ACE REN
39 hypertensive nephropathy 9.9 ACE AGTR1
40 pulmonary edema 9.9 ACE REN
41 sleep apnea 9.9 ACE REN
42 nephrosclerosis 9.9 ACE AGTR1
43 acute mountain sickness 9.9 ACE AGTR1
44 familial hypertension 9.9 AGT AGTR1 REN
45 nonarteritic anterior ischemic optic neuropathy 9.9 ACE AGTR1
46 vesicoureteral reflux 1 9.9 AGT AGTR1 REN
47 conn's syndrome 9.9 AGTR1 REN
48 glucose metabolism disease 9.9 ACE REN
49 acquired metabolic disease 9.9 ACE REN
50 microvascular complications of diabetes 5 9.8 ACE AGTR1

Graphical network of the top 20 diseases related to Renal Tubular Dysgenesis:



Diseases related to Renal Tubular Dysgenesis

Symptoms & Phenotypes for Renal Tubular Dysgenesis

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Head And Neck Face:
potter facies

Cardiovascular Vascular:
hypotension, severe

Prenatal Manifestations Amniotic Fluid:
oligohydramnios, severe
fetal anuria

Skeletal Skull:
large fontanelles
wide cranial sutures
hypoplasia of the membranous bones of the skull
underdeveloped membranous cranial bones
calvaria hypoplasia

Genitourinary Kidneys:
anuria
renal tubular dysgenesis
kidney biopsy shows absence of differentiated proximal tubules
primitive renal tubules may exist
thickening of renal arterial walls

Respiratory Lung:
pulmonary hypoplasia secondary to oligohydramnios
neonatal respiratory failure due to pulmonary hypoplasia


Clinical features from OMIM:

267430

Human phenotypes related to Renal Tubular Dysgenesis:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
3 nephropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000112
4 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
5 multiple renal cysts 59 32 hallmark (90%) Very frequent (99-80%) HP:0005562
6 bilateral single transverse palmar creases 59 32 occasional (7.5%) Occasional (29-5%) HP:0007598
7 polyhydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001561
8 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
9 oligohydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001562
10 premature birth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001622
11 pulmonary hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002089
12 proximal tubulopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000114
13 renotubular dysgenesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008660
14 respiratory insufficiency 32 HP:0002093
15 hypotension 32 HP:0002615
16 abnormality of the urinary system 32 HP:0000079
17 widely patent fontanelles and sutures 32 HP:0004492
18 potter facies 32 HP:0002009
19 anuria 32 HP:0100519

MGI Mouse Phenotypes related to Renal Tubular Dysgenesis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.35 ACE AGT AGTR1 EBF3 REN
2 renal/urinary system MP:0005367 8.92 ACE AGT AGTR1 REN

Drugs & Therapeutics for Renal Tubular Dysgenesis

Search Clinical Trials , NIH Clinical Center for Renal Tubular Dysgenesis

Genetic Tests for Renal Tubular Dysgenesis

Anatomical Context for Renal Tubular Dysgenesis

MalaCards organs/tissues related to Renal Tubular Dysgenesis:

41
Kidney, Lung, Bone, Liver, Placenta, Fetal Liver, Heart

Publications for Renal Tubular Dysgenesis

Articles related to Renal Tubular Dysgenesis:

(show top 50) (show all 64)
# Title Authors Year
1
Growth Restriction, Osteopenia, Placental Massive Perivillous Fibrin Deposition With (or Without) Intervillous Histiocytes and Renal Tubular Dysgenesis-An Emerging Complex. ( 29187034 )
2018
2
Renal tubular dysgenesis and microcolon, a novel association. Report of three cases. ( 30071301 )
2018
3
Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesis. ( 30058238 )
2018
4
Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family. ( 27994858 )
2016
5
Renal function in angiotensinogen gene-mutated renal tubular dysgenesis with glomerular cysts. ( 25414114 )
2015
6
Successful treatment of hemochromatosis with renal tubular dysgenesis in a preterm infant. ( 26331014 )
2015
7
Renal tubular dysgenesis. ( 23636579 )
2014
8
Recurrent massive perivillous fibrin deposition in the placenta associated with fetal renal tubular dysgenesis: case report and literature review. ( 23899317 )
2013
9
Another case of concomitant fetal renal tubular dysgenesis and placental massive perivillous fibrin deposition. ( 24032745 )
2013
10
Survival over 2 years of autosomal-recessive renal tubular dysgenesis. ( 26069751 )
2012
11
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. ( 22095942 )
2012
12
Renal tubular dysgenesis and reversible hypocalvaria after intrauterine exposure to an angiotensin receptor blocker. ( 25984140 )
2011
13
Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking. ( 21036942 )
2011
14
Renal tubular dysgenesis and tubulointerstitial nephritis antigen in juvenile nephronophthisis. ( 21265929 )
2011
15
Impaired proteostasis contributes to renal tubular dysgenesis. ( 21695262 )
2011
16
Non-specific histopathological changes in kidney with renal tubular dysgenesis. ( 19616900 )
2010
17
Relationship of proximal renal tubular dysgenesis and fetal liver injury in neonatal hemochromatosis. ( 19809376 )
2010
18
Inherited renal tubular dysgenesis may not be universally fatal. ( 20607303 )
2010
19
Renin-angiotensin system in kidney development: renal tubular dysgenesis. ( 19924102 )
2010
20
Congenital unilateral renal tubular dysgenesis and severe neonatal hypertension. ( 18982358 )
2009
21
A further case of renal tubular dysgenesis surviving the neonatal period. ( 18478260 )
2009
22
Renal tubular dysgenesis in Israel: pathologist's experience and literature review. ( 19344005 )
2009
23
Inherited renal tubular dysgenesis: the first patients surviving the neonatal period. ( 17443344 )
2008
24
Renal tubular dysgenesis: report of two cases in a non-consanguineous couple and review of the literature. ( 17003548 )
2007
25
Renal tubular dysgenesis associated with in utero exposure to Nimuselide. ( 16328538 )
2006
26
Renal tubular dysgenesis with atypical histology and in-utero exposure to naproxen sodium. ( 16925962 )
2006
27
A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations. ( 17036344 )
2006
28
Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system. ( 16790508 )
2006
29
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. ( 16116425 )
2005
30
Renal tubular dysgenesis-a case presentation. ( 15641273 )
2004
31
Renal tubular dysgenesis with hypoplastic calvaria: report of two cases. ( 15517826 )
2004
32
Renal tubular dysgenesis and neonatal hemochromatosis without pulmonary hypoplasia. ( 14677054 )
2004
33
Renal tubular dysgenesis complicated with severe cranium hypoplasia. ( 15043673 )
2004
34
Renal tubular dysgenesis and multiple intestinal perforation. ( 12447649 )
2003
35
Renal tubular dysgenesis in siblings. ( 12908573 )
2003
36
Renal tubular dysgenesis with medullary ray nodules. ( 12644933 )
2003
37
Renal tubular dysgenesis in an hydropic fetus with trisomy 21: a case report with literature review. ( 15018458 )
2003
38
Renal tubular dysgenesis. ( 12908566 )
2003
39
Fibroepithelial bladder polyp and renal tubular dysgenesis: an unusual cause of third-trimester oligohydramnios. ( 11549150 )
2001
40
Renal tubular dysgenesis-like lesions and hypocalvaria. Report of two cases involving indomethacin. ( 11186177 )
2000
41
Renal tubular dysgenesis (RTD) - an important cause of the oligohydramnion-sequence. Report of 3 cases and review of the literature. ( 11156331 )
2000
42
Lysozyme immunostaining in renal tubular dysgenesis. ( 10679040 )
2000
43
Renal tubular dysgenesis in twin-twin transfusion syndrome. ( 9841703 )
1999
44
Oxalate nephrocalcinosis in renal tubular dysgenesis. ( 10671031 )
1999
45
Renal tubular dysgenesis in twins. ( 9686962 )
1998
46
Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome. ( 9856560 )
1998
47
Neonatal hemochromatosis, renal tubular dysgenesis, and hypocalvaria in a neonate. ( 9688768 )
1998
48
Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review. ( 9350819 )
1997
49
Renal tubular dysgenesis with microcephaly. ( 9260254 )
1997
50
Renal tubular dysgenesis: a cause of second trimester oligohydramnios. ( 9321784 )
1997

Variations for Renal Tubular Dysgenesis

UniProtKB/Swiss-Prot genetic disease variations for Renal Tubular Dysgenesis:

75
# Symbol AA change Variation ID SNP ID
1 AGT p.Arg375Gln VAR_035433 rs74315283
2 AGTR1 p.Thr282Met VAR_035086 rs104893677
3 REN p.Arg230Lys VAR_035087 rs121917742
4 REN p.Asp104Asn VAR_035088 rs868694193

ClinVar genetic disease variations for Renal Tubular Dysgenesis:

6 (show top 50) (show all 402)
# Gene Variation Type Significance SNP ID Assembly Location
1 REN NM_000537.3(REN): c.145C> T (p.Arg49Ter) single nucleotide variant Pathogenic rs121917741 GRCh37 Chromosome 1, 204131245: 204131245
2 REN NM_000537.3(REN): c.145C> T (p.Arg49Ter) single nucleotide variant Pathogenic rs121917741 GRCh38 Chromosome 1, 204162117: 204162117
3 REN NM_000537.3(REN): c.689G> A (p.Arg230Lys) single nucleotide variant Pathogenic rs121917742 GRCh37 Chromosome 1, 204128527: 204128527
4 REN NM_000537.3(REN): c.689G> A (p.Arg230Lys) single nucleotide variant Pathogenic rs121917742 GRCh38 Chromosome 1, 204159399: 204159399
5 ACE NM_000789.3(ACE): c.798C> G (p.Tyr266Ter) single nucleotide variant Pathogenic rs121912704 GRCh37 Chromosome 17, 61557840: 61557840
6 ACE NM_000789.3(ACE): c.798C> G (p.Tyr266Ter) single nucleotide variant Pathogenic rs121912704 GRCh38 Chromosome 17, 63480479: 63480479
7 ACE NM_000789.3(ACE): c.1319_1322delTGGA (p.Leu440Profs) deletion Pathogenic rs387906576 GRCh37 Chromosome 17, 61560027: 61560030
8 ACE NM_000789.3(ACE): c.1319_1322delTGGA (p.Leu440Profs) deletion Pathogenic rs387906576 GRCh38 Chromosome 17, 63482666: 63482669
9 AGTR1 NM_031850.3(AGTR1): c.*86A> C single nucleotide variant Benign rs5186 GRCh37 Chromosome 3, 148459988: 148459988
10 AGTR1 NM_031850.3(AGTR1): c.*86A> C single nucleotide variant Benign rs5186 GRCh38 Chromosome 3, 148742201: 148742201
11 AGTR1 NM_031850.3(AGTR1): c.215dupT (p.Ile73Hisfs) duplication Pathogenic rs387906577 GRCh37 Chromosome 3, 148458932: 148458932
12 AGTR1 NM_031850.3(AGTR1): c.215dupT (p.Ile73Hisfs) duplication Pathogenic rs387906577 GRCh38 Chromosome 3, 148741145: 148741145
13 AGTR1 NM_031850.3(AGTR1): c.950C> T (p.Thr317Met) single nucleotide variant Pathogenic rs104893677 GRCh37 Chromosome 3, 148459667: 148459667
14 AGTR1 NM_031850.3(AGTR1): c.950C> T (p.Thr317Met) single nucleotide variant Pathogenic rs104893677 GRCh38 Chromosome 3, 148741880: 148741880
15 AGT NM_000029.3(AGT): c.803T> C (p.Met268Thr) single nucleotide variant Benign rs699 GRCh37 Chromosome 1, 230845794: 230845794
16 AGT NM_000029.3(AGT): c.803T> C (p.Met268Thr) single nucleotide variant Benign rs699 GRCh38 Chromosome 1, 230710048: 230710048
17 AGT NM_000029.3(AGT): c.1124G> A (p.Arg375Gln) single nucleotide variant Pathogenic rs74315283 GRCh37 Chromosome 1, 230841679: 230841679
18 AGT NM_000029.3(AGT): c.1124G> A (p.Arg375Gln) single nucleotide variant Pathogenic rs74315283 GRCh38 Chromosome 1, 230705933: 230705933
19 AGT NM_000029.3(AGT): c.604C> T (p.Gln202Ter) single nucleotide variant Pathogenic rs121912702 GRCh37 Chromosome 1, 230845993: 230845993
20 AGT NM_000029.3(AGT): c.604C> T (p.Gln202Ter) single nucleotide variant Pathogenic rs121912702 GRCh38 Chromosome 1, 230710247: 230710247
21 AGT NM_000029.3(AGT): c.1290delT (p.Phe430Leufs) deletion Pathogenic rs387906578 GRCh37 Chromosome 1, 230839055: 230839055
22 AGT NM_000029.3(AGT): c.1290delT (p.Phe430Leufs) deletion Pathogenic rs387906578 GRCh38 Chromosome 1, 230703309: 230703309
23 AGTR1 NM_031850.3(AGTR1): c.356G> A (p.Trp119Ter) single nucleotide variant Likely pathogenic rs398122935 GRCh37 Chromosome 3, 148459073: 148459073
24 AGTR1 NM_031850.3(AGTR1): c.356G> A (p.Trp119Ter) single nucleotide variant Likely pathogenic rs398122935 GRCh38 Chromosome 3, 148741286: 148741286
25 AGTR1 NM_031850.3(AGTR1): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs397514687 GRCh37 Chromosome 3, 148459198: 148459198
26 AGTR1 NM_031850.3(AGTR1): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs397514687 GRCh38 Chromosome 3, 148741411: 148741411
27 ACE NM_000789.3(ACE): c.1486C> T (p.Arg496Ter) single nucleotide variant Pathogenic rs397514688 GRCh37 Chromosome 17, 61560533: 61560533
28 ACE NM_000789.3(ACE): c.1486C> T (p.Arg496Ter) single nucleotide variant Pathogenic rs397514688 GRCh38 Chromosome 17, 63483172: 63483172
29 ACE NM_000789.3(ACE): c.2371C> T (p.Arg791Ter) single nucleotide variant Pathogenic rs397514689 GRCh37 Chromosome 17, 61566074: 61566074
30 ACE NM_000789.3(ACE): c.2371C> T (p.Arg791Ter) single nucleotide variant Pathogenic rs397514689 GRCh38 Chromosome 17, 63488713: 63488713
31 REN NM_000537.3(REN): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic rs397514690 GRCh37 Chromosome 1, 204131263: 204131263
32 REN NM_000537.3(REN): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic rs397514690 GRCh38 Chromosome 1, 204162135: 204162135
33 REN NM_000537.3(REN): c.404C> A (p.Ser135Tyr) single nucleotide variant Pathogenic rs397514691 GRCh37 Chromosome 1, 204129776: 204129776
34 REN NM_000537.3(REN): c.404C> A (p.Ser135Tyr) single nucleotide variant Pathogenic rs397514691 GRCh38 Chromosome 1, 204160648: 204160648
35 ACE NM_000789.3(ACE): c.12_31del20 (p.Ser5Alafs) deletion Pathogenic/Likely pathogenic rs797045079 GRCh37 Chromosome 17, 61554467: 61554486
36 ACE NM_000789.3(ACE): c.12_31del20 (p.Ser5Alafs) deletion Pathogenic/Likely pathogenic rs797045079 GRCh38 Chromosome 17, 63477106: 63477125
37 ACE NM_000789.3(ACE): c.1522C> T (p.Arg508Ter) single nucleotide variant Pathogenic/Likely pathogenic rs367797185 GRCh37 Chromosome 17, 61560855: 61560855
38 ACE NM_000789.3(ACE): c.1522C> T (p.Arg508Ter) single nucleotide variant Pathogenic/Likely pathogenic rs367797185 GRCh38 Chromosome 17, 63483494: 63483494
39 REN NM_000537.3(REN): c.204A> C (p.Thr68=) single nucleotide variant Benign rs5705 GRCh37 Chromosome 1, 204131186: 204131186
40 REN NM_000537.3(REN): c.204A> C (p.Thr68=) single nucleotide variant Benign rs5705 GRCh38 Chromosome 1, 204162058: 204162058
41 AGT NM_000029.3(AGT): c.1116A> G (p.Leu372=) single nucleotide variant Benign rs7080 GRCh38 Chromosome 1, 230705941: 230705941
42 AGT NM_000029.3(AGT): c.1116A> G (p.Leu372=) single nucleotide variant Benign rs7080 GRCh37 Chromosome 1, 230841687: 230841687
43 AGTR1 NM_000685.4(AGTR1): c.573C> T (p.Leu191=) single nucleotide variant Benign rs5182 GRCh37 Chromosome 3, 148459395: 148459395
44 AGTR1 NM_000685.4(AGTR1): c.573C> T (p.Leu191=) single nucleotide variant Benign rs5182 GRCh38 Chromosome 3, 148741608: 148741608
45 AGTR1 NM_000685.4(AGTR1): c.1062A> G (p.Pro354=) single nucleotide variant Benign rs5183 GRCh37 Chromosome 3, 148459884: 148459884
46 AGTR1 NM_000685.4(AGTR1): c.1062A> G (p.Pro354=) single nucleotide variant Benign rs5183 GRCh38 Chromosome 3, 148742097: 148742097
47 ACE NM_000789.3(ACE): c.582C> T (p.Asn194=) single nucleotide variant Benign rs4298 GRCh38 Chromosome 17, 63479839: 63479839
48 ACE NM_000789.3(ACE): c.582C> T (p.Asn194=) single nucleotide variant Benign rs4298 GRCh37 Chromosome 17, 61557200: 61557200
49 ACE NM_000789.3(ACE): c.655+13C> T single nucleotide variant Benign/Likely benign rs4300 GRCh38 Chromosome 17, 63479925: 63479925
50 ACE NM_000789.3(ACE): c.655+13C> T single nucleotide variant Benign/Likely benign rs4300 GRCh37 Chromosome 17, 61557286: 61557286

Expression for Renal Tubular Dysgenesis

Search GEO for disease gene expression data for Renal Tubular Dysgenesis.

Pathways for Renal Tubular Dysgenesis

Pathways related to Renal Tubular Dysgenesis according to KEGG:

37
# Name Kegg Source Accession
1 Renin-angiotensin system hsa04614

GO Terms for Renal Tubular Dysgenesis

Biological processes related to Renal Tubular Dysgenesis according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell growth GO:0001558 9.62 AGT AGTR1
2 positive regulation of inflammatory response GO:0050729 9.61 AGT AGTR1
3 phospholipase C-activating G protein-coupled receptor signaling pathway GO:0007200 9.61 AGT AGTR1
4 regulation of blood pressure GO:0008217 9.61 ACE AGT REN
5 positive regulation of protein tyrosine kinase activity GO:0061098 9.6 ACE AGT
6 blood vessel remodeling GO:0001974 9.59 ACE AGT
7 positive regulation of reactive oxygen species metabolic process GO:2000379 9.58 AGT AGTR1
8 positive regulation of blood pressure GO:0045777 9.58 ACE AGT
9 positive regulation of cellular protein metabolic process GO:0032270 9.57 AGT AGTR1
10 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.56 AGT AGTR1
11 amyloid-beta metabolic process GO:0050435 9.55 ACE REN
12 low-density lipoprotein particle remodeling GO:0034374 9.54 AGT AGTR1
13 regulation of blood vessel diameter GO:0097746 9.52 ACE AGTR1
14 angiotensin maturation GO:0002003 9.51 ACE REN
15 positive regulation of cholesterol esterification GO:0010873 9.49 AGT AGTR1
16 positive regulation of NAD(P)H oxidase activity GO:0033864 9.48 AGT AGTR1
17 regulation of renal sodium excretion GO:0035813 9.46 AGT AGTR1
18 kidney development GO:0001822 9.46 ACE AGT AGTR1 REN
19 regulation of vasoconstriction GO:0019229 9.43 ACE AGT AGTR1
20 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.4 AGT AGTR1
21 regulation of blood volume by renin-angiotensin GO:0002016 9.37 AGT REN
22 regulation of renal output by angiotensin GO:0002019 9.32 ACE AGT
23 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.13 ACE AGT AGTR1
24 renin-angiotensin regulation of aldosterone production GO:0002018 8.8 AGT AGTR1 REN

Molecular functions related to Renal Tubular Dysgenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 8.96 ACE REN
2 bradykinin receptor binding GO:0031711 8.62 ACE AGTR1

Sources for Renal Tubular Dysgenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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