MCID: RNL028
MIFTS: 48

Renal Tubular Dysgenesis

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Fetal 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 nephropathy and proximal tubulopathy

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).

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).

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 81)
# Related Disease Score Top Affiliating Genes
1 oligohydramnios 28.0 ACE AGT AGTR1 REN
2 kidney disease 27.5 ACE AGT AGTR1 REN
3 renal tubular dysgenesis due to twin-twin transfusion 12.1
4 drug-related renal tubular dysgenesis 12.1
5 pediatric hypertension 10.2 ACE AGT
6 hyporeninemic hypoaldosteronism 10.1 ACE REN
7 renal artery obstruction 10.1 ACE REN
8 hypoaldosteronism 10.1 ACE REN
9 hypertensive encephalopathy 10.1 ACE REN
10 hemochromatosis, neonatal 10.1
11 hypertensive retinopathy 10.1 ACE REN
12 hypertension, diastolic 10.1 ACE REN
13 orthostatic proteinuria 10.0 ACE REN
14 atrial septal defect 4 10.0 ACE REN
15 malignant essential hypertension 10.0 ACE REN
16 hyperaldosteronism, familial, type i 10.0 AGT REN
17 hepatorenal syndrome 10.0 ACE REN
18 pure autonomic failure 10.0 ACE REN
19 ureteral disease 10.0 ACE REN
20 pseudohyperkalemia, familial, 2, due to red cell leak 10.0 ACE REN
21 gitelman syndrome 9.9 AGT REN
22 aortic valve disease 1 9.9 ACE REN
23 pulmonary edema 9.9 ACE REN
24 hypokalemia 9.9 ACE REN
25 polycystic kidney disease 1 with or without polycystic liver disease 9.9 ACE REN
26 meconium ileus 9.8
27 microcephaly 9.8
28 nephrocalcinosis 9.8
29 nephronophthisis 9.8
30 intestinal perforation 9.8
31 ischemia 9.8
32 juvenile nephronophthisis 9.8
33 sleep apnea 9.8 ACE REN
34 familial hypertension 9.8 AGT AGTR1
35 meningococcal infection 9.8 AGT AGTR1
36 hypertensive nephropathy 9.8 ACE AGTR1
37 glucose metabolism disease 9.8 ACE REN
38 nephrosclerosis 9.7 ACE AGTR1
39 acute mountain sickness 9.7 ACE AGTR1
40 congenital hepatic fibrosis 9.7 AGTR1 REN
41 nonarteritic anterior ischemic optic neuropathy 9.7 ACE AGTR1
42 urinary system disease 9.7 ACE REN
43 acquired metabolic disease 9.6 ACE REN
44 interstitial nephritis 9.5 ACE AGT REN
45 aortic valve disease 2 9.5 ACE AGT REN
46 autosomal dominant polycystic kidney disease 9.5 ACE AGT REN
47 renal fibrosis 9.4 AGTR1 REN
48 posterior urethral valves 9.3 ACE AGT AGTR1
49 aortic coarctation 9.3 ACE AGT AGTR1
50 diastolic heart failure 9.3 ACE AGT 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 nephropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000112
2 proximal tubulopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000114
3 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
4 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
5 polyhydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001561
6 oligohydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001562
7 premature birth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001622
8 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
9 pulmonary hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002089
10 multiple renal cysts 59 32 hallmark (90%) Very frequent (99-80%) HP:0005562
11 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
12 bilateral single transverse palmar creases 59 32 occasional (7.5%) Occasional (29-5%) HP:0007598
13 renotubular dysgenesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008660
14 abnormality of the urinary system 32 HP:0000079
15 potter facies 32 HP:0002009
16 respiratory insufficiency 32 HP:0002093
17 hypotension 32 HP:0002615
18 widely patent fontanelles and sutures 32 HP:0004492
19 anuria 32 HP:0100519

MGI Mouse Phenotypes related to Renal Tubular Dysgenesis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.33 AGT AGTR1 ACE
2 cardiovascular system MP:0005385 9.26 AGTR1 REN ACE AGT
3 renal/urinary system MP:0005367 8.92 AGTR1 REN ACE AGT

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, Fetal Liver, Liver, Placenta

Publications for Renal Tubular Dysgenesis

Articles related to Renal Tubular Dysgenesis:

(show top 50) (show all 62)
# 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: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family. ( 27994858 )
2016
3
Renal function in angiotensinogen gene-mutated renal tubular dysgenesis with glomerular cysts. ( 25414114 )
2015
4
Successful treatment of hemochromatosis with renal tubular dysgenesis in a preterm infant. ( 26331014 )
2015
5
Renal tubular dysgenesis. ( 23636579 )
2014
6
Recurrent massive perivillous fibrin deposition in the placenta associated with fetal renal tubular dysgenesis: case report and literature review. ( 23899317 )
2013
7
Another case of concomitant fetal renal tubular dysgenesis and placental massive perivillous fibrin deposition. ( 24032745 )
2013
8
Survival over 2 years of autosomal-recessive renal tubular dysgenesis. ( 26069751 )
2012
9
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. ( 22095942 )
2012
10
Renal tubular dysgenesis and reversible hypocalvaria after intrauterine exposure to an angiotensin receptor blocker. ( 25984140 )
2011
11
Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking. ( 21036942 )
2011
12
Renal tubular dysgenesis and tubulointerstitial nephritis antigen in juvenile nephronophthisis. ( 21265929 )
2011
13
Impaired proteostasis contributes to renal tubular dysgenesis. ( 21695262 )
2011
14
Non-specific histopathological changes in kidney with renal tubular dysgenesis. ( 19616900 )
2010
15
Relationship of proximal renal tubular dysgenesis and fetal liver injury in neonatal hemochromatosis. ( 19809376 )
2010
16
Inherited renal tubular dysgenesis may not be universally fatal. ( 20607303 )
2010
17
Renin-angiotensin system in kidney development: renal tubular dysgenesis. ( 19924102 )
2010
18
Congenital unilateral renal tubular dysgenesis and severe neonatal hypertension. ( 18982358 )
2009
19
A further case of renal tubular dysgenesis surviving the neonatal period. ( 18478260 )
2009
20
Renal tubular dysgenesis in Israel: pathologist's experience and literature review. ( 19344005 )
2009
21
Inherited renal tubular dysgenesis: the first patients surviving the neonatal period. ( 17443344 )
2008
22
Renal tubular dysgenesis: report of two cases in a non-consanguineous couple and review of the literature. ( 17003548 )
2007
23
Renal tubular dysgenesis associated with in utero exposure to Nimuselide. ( 16328538 )
2006
24
Renal tubular dysgenesis with atypical histology and in-utero exposure to naproxen sodium. ( 16925962 )
2006
25
A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations. ( 17036344 )
2006
26
Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system. ( 16790508 )
2006
27
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. ( 16116425 )
2005
28
Renal tubular dysgenesis-a case presentation. ( 15641273 )
2004
29
Renal tubular dysgenesis with hypoplastic calvaria: report of two cases. ( 15517826 )
2004
30
Renal tubular dysgenesis and neonatal hemochromatosis without pulmonary hypoplasia. ( 14677054 )
2004
31
Renal tubular dysgenesis complicated with severe cranium hypoplasia. ( 15043673 )
2004
32
Renal tubular dysgenesis and multiple intestinal perforation. ( 12447649 )
2003
33
Renal tubular dysgenesis in siblings. ( 12908573 )
2003
34
Renal tubular dysgenesis with medullary ray nodules. ( 12644933 )
2003
35
Renal tubular dysgenesis in an hydropic fetus with trisomy 21: a case report with literature review. ( 15018458 )
2003
36
Renal tubular dysgenesis. ( 12908566 )
2003
37
Fibroepithelial bladder polyp and renal tubular dysgenesis: an unusual cause of third-trimester oligohydramnios. ( 11549150 )
2001
38
Renal tubular dysgenesis-like lesions and hypocalvaria. Report of two cases involving indomethacin. ( 11186177 )
2000
39
Renal tubular dysgenesis (RTD) - an important cause of the oligohydramnion-sequence. Report of 3 cases and review of the literature. ( 11156331 )
2000
40
Lysozyme immunostaining in renal tubular dysgenesis. ( 10679040 )
2000
41
Renal tubular dysgenesis in twin-twin transfusion syndrome. ( 9841703 )
1999
42
Oxalate nephrocalcinosis in renal tubular dysgenesis. ( 10671031 )
1999
43
Renal tubular dysgenesis in twins. ( 9686962 )
1998
44
Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome. ( 9856560 )
1998
45
Neonatal hemochromatosis, renal tubular dysgenesis, and hypocalvaria in a neonate. ( 9688768 )
1998
46
Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review. ( 9350819 )
1997
47
Renal tubular dysgenesis with microcephaly. ( 9260254 )
1997
48
Renal tubular dysgenesis: a cause of second trimester oligohydramnios. ( 9321784 )
1997
49
Renal tubular dysgenesis: a report of two cases. ( 8979193 )
1996
50
Familial renal tubular dysgenesis: a disorder not isolated to proximal convoluted tubules. ( 8705201 )
1995

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 394)
# 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.215dupT (p.Ile73Hisfs) duplication Pathogenic rs387906577 GRCh37 Chromosome 3, 148458932: 148458932
10 AGTR1 NM_031850.3(AGTR1): c.215dupT (p.Ile73Hisfs) duplication Pathogenic rs387906577 GRCh38 Chromosome 3, 148741145: 148741145
11 AGTR1 NM_031850.3(AGTR1): c.950C> T (p.Thr317Met) single nucleotide variant Pathogenic rs104893677 GRCh37 Chromosome 3, 148459667: 148459667
12 AGTR1 NM_031850.3(AGTR1): c.950C> T (p.Thr317Met) single nucleotide variant Pathogenic rs104893677 GRCh38 Chromosome 3, 148741880: 148741880
13 AGT NM_000029.3(AGT): c.1124G> A (p.Arg375Gln) single nucleotide variant Pathogenic rs74315283 GRCh37 Chromosome 1, 230841679: 230841679
14 AGT NM_000029.3(AGT): c.1124G> A (p.Arg375Gln) single nucleotide variant Pathogenic rs74315283 GRCh38 Chromosome 1, 230705933: 230705933
15 AGT NM_000029.3(AGT): c.604C> T (p.Gln202Ter) single nucleotide variant Pathogenic rs121912702 GRCh37 Chromosome 1, 230845993: 230845993
16 AGT NM_000029.3(AGT): c.604C> T (p.Gln202Ter) single nucleotide variant Pathogenic rs121912702 GRCh38 Chromosome 1, 230710247: 230710247
17 AGT NM_000029.3(AGT): c.1290delT (p.Phe430Leufs) deletion Pathogenic rs387906578 GRCh37 Chromosome 1, 230839055: 230839055
18 AGT NM_000029.3(AGT): c.1290delT (p.Phe430Leufs) deletion Pathogenic rs387906578 GRCh38 Chromosome 1, 230703309: 230703309
19 AGTR1 NM_031850.3(AGTR1): c.356G> A (p.Trp119Ter) single nucleotide variant Likely pathogenic rs398122935 GRCh37 Chromosome 3, 148459073: 148459073
20 AGTR1 NM_031850.3(AGTR1): c.356G> A (p.Trp119Ter) single nucleotide variant Likely pathogenic rs398122935 GRCh38 Chromosome 3, 148741286: 148741286
21 AGTR1 NM_031850.3(AGTR1): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs397514687 GRCh37 Chromosome 3, 148459198: 148459198
22 AGTR1 NM_031850.3(AGTR1): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs397514687 GRCh38 Chromosome 3, 148741411: 148741411
23 ACE NM_000789.3(ACE): c.1486C> T (p.Arg496Ter) single nucleotide variant Pathogenic rs397514688 GRCh37 Chromosome 17, 61560533: 61560533
24 ACE NM_000789.3(ACE): c.1486C> T (p.Arg496Ter) single nucleotide variant Pathogenic rs397514688 GRCh38 Chromosome 17, 63483172: 63483172
25 ACE NM_000789.3(ACE): c.2371C> T (p.Arg791Ter) single nucleotide variant Pathogenic rs397514689 GRCh37 Chromosome 17, 61566074: 61566074
26 ACE NM_000789.3(ACE): c.2371C> T (p.Arg791Ter) single nucleotide variant Pathogenic rs397514689 GRCh38 Chromosome 17, 63488713: 63488713
27 REN NM_000537.3(REN): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic rs397514690 GRCh37 Chromosome 1, 204131263: 204131263
28 REN NM_000537.3(REN): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic rs397514690 GRCh38 Chromosome 1, 204162135: 204162135
29 REN NM_000537.3(REN): c.404C> A (p.Ser135Tyr) single nucleotide variant Pathogenic rs397514691 GRCh37 Chromosome 1, 204129776: 204129776
30 REN NM_000537.3(REN): c.404C> A (p.Ser135Tyr) single nucleotide variant Pathogenic rs397514691 GRCh38 Chromosome 1, 204160648: 204160648
31 ACE NM_000789.3(ACE): c.12_31del20 (p.Ser5Alafs) deletion Pathogenic/Likely pathogenic rs797045079 GRCh37 Chromosome 17, 61554467: 61554486
32 ACE NM_000789.3(ACE): c.12_31del20 (p.Ser5Alafs) deletion Pathogenic/Likely pathogenic rs797045079 GRCh38 Chromosome 17, 63477106: 63477125
33 ACE NM_000789.3(ACE): c.1522C> T (p.Arg508Ter) single nucleotide variant Pathogenic/Likely pathogenic rs367797185 GRCh37 Chromosome 17, 61560855: 61560855
34 ACE NM_000789.3(ACE): c.1522C> T (p.Arg508Ter) single nucleotide variant Pathogenic/Likely pathogenic rs367797185 GRCh38 Chromosome 17, 63483494: 63483494
35 REN NM_000537.3(REN): c.204A> C (p.Thr68=) single nucleotide variant Benign rs5705 GRCh37 Chromosome 1, 204131186: 204131186
36 REN NM_000537.3(REN): c.204A> C (p.Thr68=) single nucleotide variant Benign rs5705 GRCh38 Chromosome 1, 204162058: 204162058
37 AGT NM_000029.3(AGT): c.1116A> G (p.Leu372=) single nucleotide variant Benign rs7080 GRCh38 Chromosome 1, 230705941: 230705941
38 AGT NM_000029.3(AGT): c.1116A> G (p.Leu372=) single nucleotide variant Benign rs7080 GRCh37 Chromosome 1, 230841687: 230841687
39 AGTR1 NM_000685.4(AGTR1): c.573C> T (p.Leu191=) single nucleotide variant Benign rs5182 GRCh37 Chromosome 3, 148459395: 148459395
40 AGTR1 NM_000685.4(AGTR1): c.573C> T (p.Leu191=) single nucleotide variant Benign rs5182 GRCh38 Chromosome 3, 148741608: 148741608
41 AGTR1 NM_000685.4(AGTR1): c.1062A> G (p.Pro354=) single nucleotide variant Benign rs5183 GRCh37 Chromosome 3, 148459884: 148459884
42 AGTR1 NM_000685.4(AGTR1): c.1062A> G (p.Pro354=) single nucleotide variant Benign rs5183 GRCh38 Chromosome 3, 148742097: 148742097
43 ACE NM_000789.3(ACE): c.582C> T (p.Asn194=) single nucleotide variant Benign rs4298 GRCh38 Chromosome 17, 63479839: 63479839
44 ACE NM_000789.3(ACE): c.582C> T (p.Asn194=) single nucleotide variant Benign rs4298 GRCh37 Chromosome 17, 61557200: 61557200
45 ACE NM_000789.3(ACE): c.655+13C> T single nucleotide variant Likely benign rs4300 GRCh38 Chromosome 17, 63479925: 63479925
46 ACE NM_000789.3(ACE): c.655+13C> T single nucleotide variant Likely benign rs4300 GRCh37 Chromosome 17, 61557286: 61557286
47 ACE NM_000789.3(ACE): c.1215C> T (p.Pro405=) single nucleotide variant Benign rs4309 GRCh38 Chromosome 17, 63482562: 63482562
48 ACE NM_000789.3(ACE): c.1215C> T (p.Pro405=) single nucleotide variant Benign rs4309 GRCh37 Chromosome 17, 61559923: 61559923
49 ACE NM_000789.3(ACE): c.2193A> G (p.Ala731=) single nucleotide variant Benign rs4331 GRCh38 Chromosome 17, 63486691: 63486691
50 ACE NM_000789.3(ACE): c.2193A> G (p.Ala731=) single nucleotide variant Benign rs4331 GRCh37 Chromosome 17, 61564052: 61564052

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 blood pressure GO:0008217 9.63 ACE AGT REN
2 positive regulation of cytosolic calcium ion concentration GO:0007204 9.62 AGT AGTR1
3 regulation of cell growth GO:0001558 9.61 AGT AGTR1
4 positive regulation of inflammatory response GO:0050729 9.61 AGT AGTR1
5 phospholipase C-activating G-protein coupled receptor signaling pathway GO:0007200 9.6 AGT AGTR1
6 positive regulation of protein tyrosine kinase activity GO:0061098 9.59 ACE AGT
7 blood vessel remodeling GO:0001974 9.58 ACE AGT
8 positive regulation of reactive oxygen species metabolic process GO:2000379 9.58 AGT AGTR1
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 regulation of blood vessel diameter GO:0097746 9.54 ACE AGTR1
13 low-density lipoprotein particle remodeling GO:0034374 9.52 AGT AGTR1
14 positive regulation of cholesterol esterification GO:0010873 9.51 AGT AGTR1
15 regulation of vasoconstriction GO:0019229 9.5 ACE AGT AGTR1
16 positive regulation of NAD(P)H oxidase activity GO:0033864 9.49 AGT AGTR1
17 regulation of renal sodium excretion GO:0035813 9.48 AGT AGTR1
18 kidney development GO:0001822 9.46 ACE AGT AGTR1 REN
19 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.43 AGT AGTR1
20 angiotensin maturation GO:0002003 9.43 ACE AGT REN
21 regulation of blood volume by renin-angiotensin GO:0002016 9.4 AGT REN
22 regulation of renal output by angiotensin GO:0002019 9.37 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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