RTD
MCID: RNL028
MIFTS: 50

Renal Tubular Dysgenesis (RTD)

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

Aliases & Classifications for Renal Tubular Dysgenesis

MalaCards integrated aliases for Renal Tubular Dysgenesis:

Name: Renal Tubular Dysgenesis 56 52 25 58 73 36 13 54
Primitive Renal Tubule Syndrome 56 52 25 58
Rtd 56 52 73
Allanson Pantzar Mcleod Syndrome 25 71
Renal Tubular Dysgenesis of Genetic Origin 58
Dysgenesis, Renal Tubular 39
Renotubular Dysgenesis 58

Characteristics:

Orphanet epidemiological data:

58
renal tubular dysgenesis
Inheritance: Autosomal recessive,Not applicable;
renal tubular dysgenesis of genetic origin
Inheritance: Autosomal recessive;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
renal tubular dysgenesis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 267430
KEGG 36 H00575
ICD10 via Orphanet 33 Q63.8
UMLS via Orphanet 72 C0266313
UMLS 71 C0266313

Summaries for Renal Tubular Dysgenesis

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). Fetal urine is the major component of the fluid that surrounds the fetus (amniotic fluid), and anuria leads to decreased amniotic fluid levels (oligohydramnios). Amniotic fluid helps cushion and protect the fetus and plays a role in the development of many organs, including the lungs. Oligohydramnios causes a set of abnormalities called the Potter sequence, which includes distinctive facial features such as a flattened nose and large, low-set ears; excess skin; inward- and upward-turning feet (clubfeet); and underdeveloped lungs. Renal tubular dysgenesis also causes severe low blood pressure (hypotension). In addition, bone development in the skull is abnormal in some affected individuals, causing a large space between the bones of the skull (fontanelles). As a result of the serious health problems caused by renal tubular dysgenesis, affected individuals usually die before birth, are stillborn, or die soon after birth from respiratory failure. Rarely, with treatment, affected individuals survive into childhood. Their blood pressure usually normalizes, but they quickly develop chronic kidney disease, which is characterized by reduced kidney function that worsens over time.

MalaCards based summary : Renal Tubular Dysgenesis, also known as primitive renal tubule syndrome, is related to twin-to-twin transfusion syndrome and renal artery obstruction. 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 heart, and related phenotypes are hypertelorism and polyhydramnios

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3033 Definition Renal 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) or inherited in an autosomal recessive manner. Visit the Orphanet disease page for more resources.

OMIM : 56 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)

KEGG : 36 Autosomal recessive renal tubular dysgenesis (RTD) is a rare lethal disorder characterized by the absence or incomplete differentiation of proximal tubules. Patients present persistent fetal anuria leading to oligohydramnios sequence. Homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1 may cause RTD. These genes are renin-angiotensin system components which regulate renal growth during embryogenesis.

UniProtKB/Swiss-Prot : 73 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 161)
# Related Disease Score Top Affiliating Genes
1 twin-to-twin transfusion syndrome 30.1 REN AGTR1
2 renal artery obstruction 29.7 REN ACE
3 oligohydramnios 29.7 REN AGTR1 AGT ACE
4 potter's syndrome 29.7 REN AGT ACE
5 anuria 29.6 REN AGTR1 AGT ACE
6 urinary tract obstruction 29.0 REN AGTR1 ACE
7 end stage renal failure 28.7 REN AGTR1 AGT ACE
8 kidney disease 28.7 REN AGTR1 AGT ACE
9 renal tubular dysgenesis due to twin-twin transfusion 12.4
10 drug-related renal tubular dysgenesis 12.4
11 respiratory failure 10.4
12 autosomal recessive disease 10.4
13 hemochromatosis, neonatal 10.3
14 hemochromatosis, type 1 10.3
15 small cell cancer of the lung 10.2
16 lung cancer 10.2
17 neonatal respiratory failure 10.1
18 polyhydramnios 10.1
19 chromosomal triplication 10.1
20 hyperaldosteronism, familial, type i 10.1 REN AGT
21 meningococcal infection 10.0 AGTR1 AGT
22 plantar fascial fibromatosis 10.0 AGTR1 AGT
23 gitelman syndrome 10.0 REN AGT
24 malignant secondary hypertension 10.0 REN AGTR1
25 malignant renovascular hypertension 10.0 REN AGTR1
26 liddle syndrome 1 10.0 REN AGT
27 malignant hypertensive renal disease 10.0 REN AGTR1
28 saethre-chotzen syndrome 10.0
29 down syndrome 10.0
30 anus, imperforate 10.0
31 enterocolitis 10.0
32 hydrops fetalis, nonimmune 10.0
33 microcolon 10.0
34 choanal atresia, posterior 10.0
35 meconium ileus 10.0
36 metabolic acidosis 10.0
37 thrombosis 10.0
38 siderosis 10.0
39 microcephaly 10.0
40 pyelonephritis 10.0
41 nephrocalcinosis 10.0
42 nephronophthisis 10.0
43 hypothyroidism 10.0
44 ventricular septal defect 10.0
45 pneumothorax 10.0
46 heart septal defect 10.0
47 calcinosis 10.0
48 intestinal perforation 10.0
49 glomerulonephritis 10.0
50 peritonitis 10.0

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



Diseases related to Renal Tubular Dysgenesis

Symptoms & Phenotypes for Renal Tubular Dysgenesis

Human phenotypes related to Renal Tubular Dysgenesis:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
3 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
4 multiple renal cysts 58 31 hallmark (90%) Very frequent (99-80%) HP:0005562
5 premature birth 58 31 hallmark (90%) Very frequent (99-80%) HP:0001622
6 pulmonary hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002089
7 proximal tubulopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000114
8 renotubular dysgenesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008660
9 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
10 nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000112
11 oligohydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001562
12 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
13 bilateral single transverse palmar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0007598
14 hypotension 31 HP:0002615
15 respiratory insufficiency 31 HP:0002093
16 abnormality of the urinary system 31 HP:0000079
17 widely patent fontanelles and sutures 31 HP:0004492
18 potter facies 31 HP:0002009
19 anuria 31 HP:0100519

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Renal Tubular Dysgenesis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 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:

40
Kidney, Lung, Heart, Bone, Skin, Liver, Placenta

Publications for Renal Tubular Dysgenesis

Articles related to Renal Tubular Dysgenesis:

(show top 50) (show all 111)
# Title Authors PMID Year
1
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. 54 61 56 6
16116425 2005
2
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. 61 56 6
22095942 2012
3
A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations. 61 56 6
17036344 2006
4
Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review. 54 61 56
9350819 1997
5
Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking. 61 6
21036942 2011
6
Inherited renal tubular dysgenesis: the first patients surviving the neonatal period. 61 6
17443344 2008
7
Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome. 61 56
9856560 1998
8
Familial renal tubular dysgenesis: a disorder not isolated to proximal convoluted tubules. 61 56
8705201 1995
9
Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review. 61 56
1642268 1992
10
ACE inhibitor fetopathy and hypocalvaria: the kidney-skull connection. 61 56
1771591 1991
11
Renal tubular dysgenesis and very large cranial fontanels in a family with acrocephalosyndactyly S.C. type. 61 56
1877630 1991
12
A further family with congenital renal proximal tubular dysgenesis. 61 56
2359105 1990
13
Antenatal oligohydramnios of renal origin: postnatal therapeutic and prognostic challenges. 6
11770813 2001
14
Isolated congenital renal tubular immaturity in siblings. 56
3539761 1986
15
Possible new autosomal recessive syndrome with unusual renal histopathological changes. 56
6638071 1983
16
Angiotensin I-converting enzyme Gln1069Arg mutation impairs trafficking to the cell surface resulting in selective denaturation of the C-domain. 54 61
20454656 2010
17
Renal tubular dysgenesis: evidence of abnormality in the renin-angiotensin system. 54 61
7994002 1994
18
Prenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in the AGT Gene. 61
31718018 2019
19
Whole exome sequencing identifies c.963T > A and c.492 + 1G > A mutations in REN responsible for autosomal recessive renal tubular dysgenesis. 61
31736371 2019
20
The pathogenic AGT c.856+1G>T mutation of a patient with multiple renal cysts and hypertension. 61
31930100 2019
21
Kidney Biopsy Findings in a Patient With Valproic Acid-Associated Fanconi Syndrome. 61
30565480 2019
22
Renal tubular dysgenesis and microcolon, a novel association. Report of three cases. 61
30071301 2019
23
Renal Tubular Dysgenesis in a Case of Fetus Acardius Amorphus. 61
31781459 2019
24
Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesis. 61
30058238 2018
25
Successful treatment of severe arterial hypotension and anuria in a preterm infant with renal tubular dysgenesis- a case report. 61
30598831 2018
26
Growth Restriction, Osteopenia, Placental Massive Perivillous Fibrin Deposition With (or Without) Intervillous Histiocytes and Renal Tubular Dysgenesis-An Emerging Complex. 61
29187034 2018
27
Structure-Based Analysis of Single Nucleotide Variants in the Renin-Angiotensinogen Complex. 61
28302554 2017
28
Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family. 61
27994858 2016
29
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. 61
27241786 2016
30
Successful treatment of hemochromatosis with renal tubular dysgenesis in a preterm infant. 61
26331014 2015
31
Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE. 61
25899979 2015
32
Renal function in angiotensinogen gene-mutated renal tubular dysgenesis with glomerular cysts. 61
25414114 2015
33
Fetal renin-angiotensin-system blockade syndrome: renal lesions. 61
24477978 2014
34
Renin-angiotensin system in ureteric bud branching morphogenesis: implications for kidney disease. 61
24061643 2014
35
Absence of cell surface expression of human ACE leads to perinatal death. 61
24163131 2014
36
[Renal tubular dysgenesis and mutations in the renin-angiotensin system genes]. 61
26263708 2014
37
Renal tubular dysgenesis. 61
23636579 2014
38
Another case of concomitant fetal renal tubular dysgenesis and placental massive perivillous fibrin deposition. 61
24032745 2013
39
Recurrent massive perivillous fibrin deposition in the placenta associated with fetal renal tubular dysgenesis: case report and literature review. 61
23899317 2013
40
French retrospective multicentric study of neonatal hemochromatosis: importance of autopsy and autoimmune maternal manifestations. 61
22901025 2012
41
Renal tubular dysgenesis with hypocalvaria and ileocecal valve agenesis: an autopsy report. 61
31528585 2012
42
PP138. Human fetal malformations associated with the use of angiotensin II receptor antagonist. 61
26105460 2012
43
Oligohydramnios associated with sonographically normal kidneys. 61
22088568 2012
44
Survival over 2 years of autosomal-recessive renal tubular dysgenesis. 61
26069751 2012
45
Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD. 61
21903317 2011
46
Renin-angiotensin system in ureteric bud branching morphogenesis: insights into the mechanisms. 61
21359618 2011
47
Renal tubular dysgenesis and tubulointerstitial nephritis antigen in juvenile nephronophthisis. 61
21265929 2011
48
Renal tubular dysgenesis and reversible hypocalvaria after intrauterine exposure to an angiotensin receptor blocker. 61
25984140 2011
49
Impaired proteostasis contributes to renal tubular dysgenesis. 61
21695262 2011
50
(Pro)renin Receptor in Kidney Development and Disease. 61
21755055 2011

Variations for Renal Tubular Dysgenesis

ClinVar genetic disease variations for Renal Tubular Dysgenesis:

6 (show top 50) (show all 203) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 REN NM_000537.4(REN):c.145C>T (p.Arg49Ter)SNV Pathogenic 13123 rs121917741 1:204131245-204131245 1:204162117-204162117
2 REN NM_000537.4(REN):c.689G>A (p.Arg230Lys)SNV Pathogenic 13124 rs121917742 1:204128527-204128527 1:204159399-204159399
3 ACE NM_000789.4(ACE):c.798C>G (p.Tyr266Ter)SNV Pathogenic 18063 rs121912704 17:61557840-61557840 17:63480479-63480479
4 ACE NM_000789.4(ACE):c.1319_1322del (p.Leu440fs)deletion Pathogenic 18064 rs387906576 17:61560027-61560030 17:63482666-63482669
5 AGT NM_000029.4(AGT):c.1124G>A (p.Arg375Gln)SNV Pathogenic 18070 rs74315283 1:230841679-230841679 1:230705933-230705933
6 AGT NM_000029.4(AGT):c.604C>T (p.Gln202Ter)SNV Pathogenic 18071 rs121912702 1:230845993-230845993 1:230710247-230710247
7 AGT NM_000029.4(AGT):c.1290del (p.Phe430fs)deletion Pathogenic 18072 rs387906578 1:230839055-230839055 1:230703309-230703309
8 AGTR1 NM_031850.3(AGTR1):c.481C>T (p.Arg161Ter)SNV Pathogenic 50207 rs397514687 3:148459198-148459198 3:148741411-148741411
9 ACE NM_000789.4(ACE):c.1486C>T (p.Arg496Ter)SNV Pathogenic 50208 rs397514688 17:61560533-61560533 17:63483172-63483172
10 ACE NM_000789.4(ACE):c.2371C>T (p.Arg791Ter)SNV Pathogenic 50209 rs397514689 17:61566074-61566074 17:63488713-63488713
11 REN NM_000537.4(REN):c.127C>T (p.Arg43Ter)SNV Pathogenic 50210 rs397514690 1:204131263-204131263 1:204162135-204162135
12 REN NM_000537.4(REN):c.404C>A (p.Ser135Tyr)SNV Pathogenic 50211 rs397514691 1:204129776-204129776 1:204160648-204160648
13 AGTR1 NM_031850.3(AGTR1):c.215dup (p.Ile73fs)duplication Pathogenic 18066 rs387906577 3:148458931-148458932 3:148741144-148741145
14 AGTR1 NM_031850.3(AGTR1):c.950C>T (p.Thr317Met)SNV Pathogenic 18067 rs104893677 3:148459667-148459667 3:148741880-148741880
15 EBF3 NM_001005463.3(EBF3):c.512G>A (p.Gly171Asp)SNV Pathogenic 375375 rs1057519437 10:131755564-131755564 10:129957300-129957300
16 ACE NM_000789.4(ACE):c.12_31del (p.Ser5fs)deletion Pathogenic/Likely pathogenic 208559 rs797045079 17:61554467-61554486 17:63477106-63477125
17 ACE NM_000789.4(ACE):c.3503+1G>CSNV Likely pathogenic 559878 rs779188587 17:61573878-61573878 17:63496517-63496517
18 ACE NM_000789.4(ACE):c.2642-1G>ASNV Likely pathogenic 375298 rs778390161 17:61568314-61568314 17:63490953-63490953
19 ACE NM_000789.4(ACE):c.5G>T (p.Gly2Val)SNV Conflicting interpretations of pathogenicity 324357 rs558593002 17:61554460-61554460 17:63477099-63477099
20 ACE NM_000789.4(ACE):c.3801C>T (p.Ile1267=)SNV Conflicting interpretations of pathogenicity 324420 rs144242912 17:61574607-61574607 17:63497246-63497246
21 ACE NM_000789.4(ACE):c.1872C>T (p.Pro624=)SNV Conflicting interpretations of pathogenicity 324388 rs138812566 17:61561853-61561853 17:63484492-63484492
22 ACE NM_000789.4(ACE):c.1522C>T (p.Arg508Ter)SNV Conflicting interpretations of pathogenicity 235336 rs367797185 17:61560855-61560855 17:63483494-63483494
23 AGT NM_000029.4(AGT):c.1325C>T (p.Ser442Phe)SNV Conflicting interpretations of pathogenicity 296073 rs61751077 1:230839020-230839020 1:230703274-230703274
24 AGT NM_000029.4(AGT):c.1154T>C (p.Val385Ala)SNV Conflicting interpretations of pathogenicity 296075 rs61731499 1:230840054-230840054 1:230704308-230704308
25 REN NM_000537.4(REN):c.390C>T (p.Phe130=)SNV Conflicting interpretations of pathogenicity 294961 rs377092171 1:204129790-204129790 1:204160662-204160662
26 AGT NM_000029.4(AGT):c.151T>C (p.Cys51Arg)SNV Conflicting interpretations of pathogenicity 296088 rs61731497 1:230846446-230846446 1:230710700-230710700
27 ACE NM_000789.4(ACE):c.970C>T (p.Arg324Trp)SNV Conflicting interpretations of pathogenicity 324372 rs35141294 17:61558951-61558951 17:63481590-63481590
28 ACE NM_000789.4(ACE):c.417+8G>ASNV Conflicting interpretations of pathogenicity 324364 rs114000559 17:61555467-61555467 17:63478106-63478106
29 ACE NM_000789.4(ACE):c.975G>T (p.Val325=)SNV Conflicting interpretations of pathogenicity 324373 rs61738840 17:61558956-61558956 17:63481595-63481595
30 ACE NM_000789.4(ACE):c.1523G>A (p.Arg508Gln)SNV Uncertain significance 324382 rs746397573 17:61560856-61560856 17:63483495-63483495
31 ACE NM_000789.4(ACE):c.1842C>T (p.Asn614=)SNV Uncertain significance 324387 rs886053222 17:61561823-61561823 17:63484462-63484462
32 ACE NM_000789.4(ACE):c.*755T>GSNV Uncertain significance 324436 rs886053231 17:61575482-61575482 17:63498121-63498121
33 ACE NM_000789.4(ACE):c.*978_*980deldeletion Uncertain significance 324439 rs539209743 17:61575703-61575705 17:63498342-63498344
34 ACE NM_000789.4(ACE):c.411G>T (p.Arg137=)SNV Uncertain significance 324363 rs3729659 17:61555453-61555453 17:63478092-63478092
35 ACE NM_000789.4(ACE):c.714C>T (p.Asp238=)SNV Uncertain significance 324368 rs556856171 17:61557756-61557756 17:63480395-63480395
36 ACE NM_000789.4(ACE):c.3630G>A (p.Thr1210=)SNV Uncertain significance 324417 rs138240046 17:61574285-61574285 17:63496924-63496924
37 ACE NM_000789.4(ACE):c.*319A>GSNV Uncertain significance 324425 rs886053228 17:61575046-61575046 17:63497685-63497685
38 ACE NM_000789.4(ACE):c.*444C>TSNV Uncertain significance 324427 rs562572132 17:61575171-61575171 17:63497810-63497810
39 ACE NM_000789.4(ACE):c.164C>T (p.Ser55Phe)SNV Uncertain significance 324360 rs886053219 17:61554619-61554619 17:63477258-63477258
40 ACE NM_000789.4(ACE):c.383G>A (p.Gly128Asp)SNV Uncertain significance 324362 rs767085054 17:61555425-61555425 17:63478064-63478064
41 ACE NM_000789.4(ACE):c.*689T>CSNV Uncertain significance 324433 rs886053230 17:61575416-61575416 17:63498055-63498055
42 ACE NM_000789.4(ACE):c.417+13C>TSNV Uncertain significance 324365 rs3729660 17:61555472-61555472 17:63478111-63478111
43 ACE NM_000789.4(ACE):c.682C>T (p.Arg228Cys)SNV Uncertain significance 324367 rs141543325 17:61557724-61557724 17:63480363-63480363
44 ACE NM_000789.4(ACE):c.1216G>A (p.Val406Ile)SNV Uncertain significance 324375 rs201117983 17:61559924-61559924 17:63482563-63482563
45 ACE NM_000789.4(ACE):c.1227T>C (p.Arg409=)SNV Uncertain significance 324376 rs373568007 17:61559935-61559935 17:63482574-63482574
46 ACE NM_000789.4(ACE):c.2487C>T (p.Tyr829=)SNV Uncertain significance 324397 rs35580653 17:61566339-61566339 17:63488978-63488978
47 ACE NM_000789.4(ACE):c.2570G>A (p.Arg857His)SNV Uncertain significance 324398 rs146089353 17:61566422-61566422 17:63489061-63489061
48 ACE NM_000789.4(ACE):c.2582A>T (p.His861Leu)SNV Uncertain significance 324399 rs886053224 17:61566434-61566434 17:63489073-63489073
49 ACE NM_000789.4(ACE):c.2642-7C>TSNV Uncertain significance 324402 rs748611380 17:61568308-61568308 17:63490947-63490947
50 ACE NM_000789.4(ACE):c.45G>C (p.Pro15=)SNV Uncertain significance 324359 rs1110991 17:61554500-61554500 17:63477139-63477139

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

73
# 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

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:

36
# Name Kegg Source Accession
1 Renin-angiotensin system hsa04614

Pathways related to Renal Tubular Dysgenesis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 REN AGTR1 AGT ACE
2
Show member pathways
11.59 REN AGT ACE
3 11.32 AGTR1 AGT
4
Show member pathways
11.16 REN AGTR1 AGT ACE
5 10.76 REN AGTR1 AGT ACE

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

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 REN ACE
2 bradykinin receptor binding GO:0031711 8.62 AGTR1 ACE

Sources for Renal Tubular Dysgenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
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36 KEGG
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68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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