RTD
MCID: RNL028
MIFTS: 51

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 57 20 43 58 72 36 13 54 6
Primitive Renal Tubule Syndrome 57 20 43 58
Rtd 57 20 72
Allanson Pantzar Mcleod Syndrome 43 70
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®:

57 (Updated 05-Apr-2021)
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® 57 267430
KEGG 36 H00575
ICD10 via Orphanet 33 Q63.8
UMLS via Orphanet 71 C0266313
UMLS 70 C0266313

Summaries for Renal Tubular Dysgenesis

MedlinePlus Genetics : 43 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 oligohydramnios. An important gene associated with Renal Tubular Dysgenesis is AGT (Angiotensinogen), and among its related pathways/superpathways are Renin-angiotensin system and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include kidney, liver and placenta, and related phenotypes are hypertelorism and polyhydramnios

GARD : 20 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.

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) (Updated 05-Apr-2021)

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 : 72 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 188)
# Related Disease Score Top Affiliating Genes
1 twin-to-twin transfusion syndrome 30.2 REN AGTR1
2 oligohydramnios 30.2 REN AGTR1 AGT ACE
3 anuria 30.0 REN AGTR1 AGT ACE
4 potter's syndrome 29.9 REN AGT ACE
5 renal artery obstruction 29.9 REN ACE
6 urinary tract obstruction 29.7 REN ACE
7 pulmonary hypertension 29.5 REN AGTR1 ACE
8 end stage renal disease 29.2 REN AGTR1 AGT ACE
9 renal dysplasia 29.1 REN EBF3 AGTR1 AGT ACE
10 renal hypodysplasia/aplasia 1 29.1 REN EBF3 AGTR1 AGT ACE
11 polycystic kidney disease 29.0 REN AGTR1 AGT ACE
12 kidney disease 29.0 REN AGTR1 AGT ACE
13 chronic kidney disease 28.9 REN AGTR1 AGT ACE
14 renal tubular dysgenesis due to twin-twin transfusion 11.2
15 drug-related renal tubular dysgenesis 11.2
16 autosomal recessive disease 10.4
17 respiratory failure 10.4
18 hemochromatosis, neonatal 10.3
19 hemochromatosis, type 1 10.3
20 neonatal respiratory failure 10.1
21 nephronophthisis 10.1
22 polyhydramnios 10.1
23 chromosomal triplication 10.1
24 anthrax disease 10.1
25 hyperaldosteronism, familial, type i 10.1 REN AGT
26 malignant renovascular hypertension 10.0 REN AGTR1
27 gitelman syndrome 10.0 REN AGT
28 meningococcal infection 10.0 AGTR1 AGT
29 plantar fascial fibromatosis 10.0 AGTR1 AGT
30 liddle syndrome 1 10.0 REN AGT
31 saethre-chotzen syndrome 10.0
32 diabetes insipidus, nephrogenic, autosomal 10.0
33 down syndrome 10.0
34 anus, imperforate 10.0
35 enterocolitis 10.0
36 hydrops fetalis, nonimmune 10.0
37 microcolon 10.0
38 polycystic kidney disease 4 with or without polycystic liver disease 10.0
39 choanal atresia, posterior 10.0
40 meconium ileus 10.0
41 lymphatic malformation 7 10.0
42 metabolic acidosis 10.0
43 siderosis 10.0
44 microcephaly 10.0
45 pyelonephritis 10.0
46 nephrocalcinosis 10.0
47 hypothyroidism 10.0
48 ventricular septal defect 10.0
49 pneumothorax 10.0
50 heart septal defect 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 multiple renal cysts 58 31 hallmark (90%) Very frequent (99-80%) HP:0005562
4 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
5 premature birth 58 31 hallmark (90%) Very frequent (99-80%) HP:0001622
6 proximal tubulopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000114
7 pulmonary hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002089
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 bilateral single transverse palmar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0007598
12 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
13 oligohydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001562
14 hypotension 31 HP:0002615
15 respiratory insufficiency 31 HP:0002093
16 abnormality of the urinary system 31 HP:0000079
17 potter facies 31 HP:0002009
18 widely patent fontanelles and sutures 31 HP:0004492
19 anuria 31 HP:0100519

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Renal Tubular Dysgenesis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 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:

40
Kidney, Liver, Placenta, Fetal Liver

Publications for Renal Tubular Dysgenesis

Articles related to Renal Tubular Dysgenesis:

(show top 50) (show all 118)
# Title Authors PMID Year
1
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. 54 6 57 61
16116425 2005
2
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. 61 57 6
22095942 2012
3
A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations. 57 6 61
17036344 2006
4
Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review. 57 54 61
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. 57 61
9856560 1998
8
Familial renal tubular dysgenesis: a disorder not isolated to proximal convoluted tubules. 61 57
8705201 1995
9
Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review. 57 61
1642268 1992
10
ACE inhibitor fetopathy and hypocalvaria: the kidney-skull connection. 57 61
1771591 1991
11
Renal tubular dysgenesis and very large cranial fontanels in a family with acrocephalosyndactyly S.C. type. 57 61
1877630 1991
12
A further family with congenital renal proximal tubular dysgenesis. 61 57
2359105 1990
13
Antenatal oligohydramnios of renal origin: postnatal therapeutic and prognostic challenges. 6
11770813 2001
14
Isolated congenital renal tubular immaturity in siblings. 57
3539761 1986
15
Possible new autosomal recessive syndrome with unusual renal histopathological changes. 57
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
Secondary renal tubular dysgenesis in a newborn exposed to angiotensin Ⅱ receptor antagonist during gestation. 61
32718150 2021
19
Functional tests to guide management in an adult with loss of function of type-1 angiotensin II receptor. 61
33768328 2021
20
Autosomal Recessive Renal Tubular Dysgenesis Caused by a Founder Mutation of Angiotensinogen. 61
33163725 2020
21
A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin-angiotensin pathway, without renal tubular dysgenesis. 61
33043632 2020
22
Management of a Preterm Infant with Renal Tubular Dysgenesis: A Case Report and Review of the Literature. 61
32814721 2020
23
A Premature Baby with Severe Oligohydramnios and Hypotension: a Case Report of Renal Tubular Dysgenesis. 61
32808512 2020
24
Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease. 61
32198635 2020
25
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
26
Prenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in the AGT Gene. 61
31718018 2019
27
The pathogenic AGT c.856+1G>T mutation of a patient with multiple renal cysts and hypertension. 61
31930100 2019
28
Kidney Biopsy Findings in a Patient With Valproic Acid-Associated Fanconi Syndrome. 61
30565480 2019
29
Renal tubular dysgenesis and microcolon, a novel association. Report of three cases. 61
30071301 2019
30
Renal Tubular Dysgenesis in a Case of Fetus Acardius Amorphus. 61
31781459 2019
31
Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesis. 61
30058238 2018
32
Growth Restriction, Osteopenia, Placental Massive Perivillous Fibrin Deposition With (or Without) Intervillous Histiocytes and Renal Tubular Dysgenesis-An Emerging Complex. 61
29187034 2018
33
Successful treatment of severe arterial hypotension and anuria in a preterm infant with renal tubular dysgenesis- a case report. 61
30598831 2018
34
Structure-Based Analysis of Single Nucleotide Variants in the Renin-Angiotensinogen Complex. 61
28302554 2017
35
Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family. 61
27994858 2016
36
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. 61
27241786 2016
37
Successful treatment of hemochromatosis with renal tubular dysgenesis in a preterm infant. 61
26331014 2015
38
Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE. 61
25899979 2015
39
Renal function in angiotensinogen gene-mutated renal tubular dysgenesis with glomerular cysts. 61
25414114 2015
40
Fetal renin-angiotensin-system blockade syndrome: renal lesions. 61
24477978 2014
41
Renin-angiotensin system in ureteric bud branching morphogenesis: implications for kidney disease. 61
24061643 2014
42
Absence of cell surface expression of human ACE leads to perinatal death. 61
24163131 2014
43
[Renal tubular dysgenesis and mutations in the renin-angiotensin system genes]. 61
26263708 2014
44
Renal tubular dysgenesis. 61
23636579 2014
45
Another case of concomitant fetal renal tubular dysgenesis and placental massive perivillous fibrin deposition. 61
24032745 2013
46
Recurrent massive perivillous fibrin deposition in the placenta associated with fetal renal tubular dysgenesis: case report and literature review. 61
23899317 2013
47
French retrospective multicentric study of neonatal hemochromatosis: importance of autopsy and autoimmune maternal manifestations. 61
22901025 2012
48
Renal tubular dysgenesis with hypocalvaria and ileocecal valve agenesis: an autopsy report. 61
31528585 2012
49
PP138. Human fetal malformations associated with the use of angiotensin II receptor antagonist. 61
26105460 2012
50
Oligohydramnios associated with sonographically normal kidneys. 61
22088568 2012

Variations for Renal Tubular Dysgenesis

ClinVar genetic disease variations for Renal Tubular Dysgenesis:

6 (show top 50) (show all 363)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AGTR1 NM_000685.4(AGTR1):c.376C>T (p.Arg126Ter) SNV Pathogenic 50207 rs397514687 GRCh37: 3:148459198-148459198
GRCh38: 3:148741411-148741411
2 REN NM_000537.4(REN):c.127C>T (p.Arg43Ter) SNV Pathogenic 50210 rs397514690 GRCh37: 1:204131263-204131263
GRCh38: 1:204162135-204162135
3 REN NM_000537.4(REN):c.404C>A (p.Ser135Tyr) SNV Pathogenic 50211 rs397514691 GRCh37: 1:204129776-204129776
GRCh38: 1:204160648-204160648
4 REN NM_000537.4(REN):c.689G>A (p.Arg230Lys) SNV Pathogenic 13124 rs121917742 GRCh37: 1:204128527-204128527
GRCh38: 1:204159399-204159399
5 ACE NM_000789.4(ACE):c.798C>G (p.Tyr266Ter) SNV Pathogenic 18063 rs121912704 GRCh37: 17:61557840-61557840
GRCh38: 17:63480479-63480479
6 ACE NM_000789.4(ACE):c.1319_1322del (p.Leu440fs) Deletion Pathogenic 18064 rs387906576 GRCh37: 17:61560027-61560030
GRCh38: 17:63482666-63482669
7 AGTR1 NM_000685.4(AGTR1):c.845C>T (p.Thr282Met) SNV Pathogenic 18067 rs104893677 GRCh37: 3:148459667-148459667
GRCh38: 3:148741880-148741880
8 AGT NM_000029.4(AGT):c.604C>T (p.Gln202Ter) SNV Pathogenic 18071 rs121912702 GRCh37: 1:230845993-230845993
GRCh38: 1:230710247-230710247
9 EBF3 NM_001005463.3(EBF3):c.512G>A (p.Gly171Asp) SNV Pathogenic 375375 rs1057519437 GRCh37: 10:131755564-131755564
GRCh38: 10:129957300-129957300
10 AGT NM_000029.4(AGT):c.1124G>A (p.Arg375Gln) SNV Pathogenic 18070 rs74315283 GRCh37: 1:230841679-230841679
GRCh38: 1:230705933-230705933
11 ACE NM_000789.4(ACE):c.1486C>T (p.Arg496Ter) SNV Pathogenic 50208 rs397514688 GRCh37: 17:61560533-61560533
GRCh38: 17:63483172-63483172
12 ACE NM_000789.4(ACE):c.2371C>T (p.Arg791Ter) SNV Pathogenic 50209 rs397514689 GRCh37: 17:61566074-61566074
GRCh38: 17:63488713-63488713
13 ACE NM_000789.4(ACE):c.12_31del (p.Ser5fs) Deletion Pathogenic 208559 rs797045079 GRCh37: 17:61554467-61554486
GRCh38: 17:63477106-63477125
14 REN NM_000537.4(REN):c.145C>T (p.Arg49Ter) SNV Pathogenic 13123 rs121917741 GRCh37: 1:204131245-204131245
GRCh38: 1:204162117-204162117
15 ACE NM_000789.4(ACE):c.1361del (p.Leu454fs) Deletion Pathogenic 974372 GRCh37: 17:61560407-61560407
GRCh38: 17:63483046-63483046
16 ACE NM_000789.4(ACE):c.1384dup (p.Ile462fs) Duplication Pathogenic 974373 GRCh37: 17:61560425-61560426
GRCh38: 17:63483064-63483065
17 ACE NM_000789.4(ACE):c.899del (p.Phe300fs) Deletion Pathogenic 974413 GRCh37: 17:61558501-61558501
GRCh38: 17:63481140-63481140
18 AGTR1 NM_000685.4(AGTR1):c.110dup (p.Ile38fs) Duplication Pathogenic 18066 rs387906577 GRCh37: 3:148458931-148458932
GRCh38: 3:148741144-148741145
19 AGT NM_000029.4(AGT):c.1290del (p.Phe430fs) Deletion Pathogenic 18072 rs387906578 GRCh37: 1:230839055-230839055
GRCh38: 1:230703309-230703309
20 ACE NM_000789.4(ACE):c.3521del (p.Gly1174fs) Deletion Pathogenic 998355 GRCh37: 17:61574174-61574174
GRCh38: 17:63496813-63496813
21 ACE NM_000789.4(ACE):c.1744C>T (p.Gln582Ter) SNV Pathogenic 1028377 GRCh37: 17:61561725-61561725
GRCh38: 17:63484364-63484364
22 AGTR1 NM_000685.5(AGTR1):c.742_743del (p.Phe248fs) Deletion Pathogenic 1028418 GRCh37: 3:148459562-148459563
GRCh38: 3:148741775-148741776
23 AGTR1 NM_000685.5(AGTR1):c.46del (p.Asp16fs) Deletion Pathogenic 1031470 GRCh37: 3:148458868-148458868
GRCh38: 3:148741081-148741081
24 ACE NM_000789.4(ACE):c.444_445insTTAGC (p.Arg149fs) Insertion Pathogenic 1034297 GRCh37: 17:61556391-61556392
GRCh38: 17:63479030-63479031
25 ACE NM_000789.4(ACE):c.59_69del (p.Leu20fs) Deletion Pathogenic 1034298 GRCh37: 17:61554514-61554524
GRCh38: 17:63477153-63477163
26 ACE NM_000789.4(ACE):c.2049C>A (p.Ser683Arg) SNV Likely pathogenic 974412 GRCh37: 17:61562724-61562724
GRCh38: 17:63485363-63485363
27 ACE NM_000789.4(ACE):c.3503+1G>C SNV Likely pathogenic 559878 rs779188587 GRCh37: 17:61573878-61573878
GRCh38: 17:63496517-63496517
28 ACE NM_000789.4(ACE):c.2642-1G>A SNV Likely pathogenic 375298 rs778390161 GRCh37: 17:61568314-61568314
GRCh38: 17:63490953-63490953
29 ACE NM_000789.4(ACE):c.3296G>A (p.Gly1099Asp) SNV Likely pathogenic 917911 GRCh37: 17:61571747-61571747
GRCh38: 17:63494386-63494386
30 AGT NM_001382817.1(AGT):c.104G>A (p.Arg35Gln) SNV Likely pathogenic 917912 GRCh37: 1:230846493-230846493
GRCh38: 1:230710747-230710747
31 ACE NM_000789.4(ACE):c.2858G>A (p.Arg953Gln) SNV Conflicting interpretations of pathogenicity 324409 rs143507892 GRCh37: 17:61568688-61568688
GRCh38: 17:63491327-63491327
32 ACE NM_000789.4(ACE):c.3884C>T (p.Pro1295Leu) SNV Uncertain significance 324422 rs886053226 GRCh37: 17:61574690-61574690
GRCh38: 17:63497329-63497329
33 ACE NM_000789.4(ACE):c.928A>G (p.Ser310Gly) SNV Uncertain significance 324371 rs144137849 GRCh37: 17:61558532-61558532
GRCh38: 17:63481171-63481171
34 AGT NM_000029.4(AGT):c.*83G>A SNV Uncertain significance 296071 rs886046080 GRCh37: 1:230838804-230838804
GRCh38: 1:230703058-230703058
35 AGT NM_000029.4(AGT):c.1222G>A (p.Glu408Lys) SNV Uncertain significance 296074 rs886046081 GRCh37: 1:230839986-230839986
GRCh38: 1:230704240-230704240
36 AGT NM_000029.3(AGT):c.-423G>A SNV Uncertain significance 296101 rs5047 GRCh37: 1:230850251-230850251
GRCh38: 1:230714505-230714505
37 AGT NM_000029.3(AGT):c.-298G>A SNV Uncertain significance 296098 rs5048 GRCh37: 1:230850126-230850126
GRCh38: 1:230714380-230714380
38 ACE NM_000789.4(ACE):c.*788G>A SNV Uncertain significance 324437 rs764985002 GRCh37: 17:61575515-61575515
GRCh38: 17:63498154-63498154
39 ACE NM_000789.4(ACE):c.1439G>A (p.Ser480Asn) SNV Uncertain significance 324379 rs886053220 GRCh37: 17:61560486-61560486
GRCh38: 17:63483125-63483125
40 AGT NM_000029.3(AGT):c.-191C>T SNV Uncertain significance 296095 rs886046087 GRCh37: 1:230850019-230850019
GRCh38: 1:230714273-230714273
41 ACE NM_000789.4(ACE):c.1915G>A (p.Gly639Ser) SNV Uncertain significance 324389 rs72845024 GRCh37: 17:61561896-61561896
GRCh38: 17:63484535-63484535
42 ACE NM_000789.4(ACE):c.2299G>A (p.Glu767Lys) SNV Uncertain significance 324391 rs148995315 GRCh37: 17:61564428-61564428
GRCh38: 17:63487067-63487067
43 ACE NM_000789.4(ACE):c.*319A>G SNV Uncertain significance 324425 rs886053228 GRCh37: 17:61575046-61575046
GRCh38: 17:63497685-63497685
44 ACE NM_000789.4(ACE):c.3038G>C (p.Gly1013Ala) SNV Uncertain significance 324412 rs540734174 GRCh37: 17:61570922-61570922
GRCh38: 17:63493561-63493561
45 ACE NM_000789.4(ACE):c.2642-5T>C SNV Uncertain significance 324403 rs770020441 GRCh37: 17:61568310-61568310
GRCh38: 17:63490949-63490949
46 AGT NM_000029.4(AGT):c.*513C>A SNV Uncertain significance 296065 rs886046077 GRCh37: 1:230838374-230838374
GRCh38: 1:230702628-230702628
47 AGTR1 NM_031850.3(AGTR1):c.1113G>A (p.Thr371=) SNV Uncertain significance 343676 rs143432118 GRCh37: 3:148459830-148459830
GRCh38: 3:148742043-148742043
48 AGT NM_000029.4(AGT):c.*384A>C SNV Uncertain significance 296068 rs886046079 GRCh37: 1:230838503-230838503
GRCh38: 1:230702757-230702757
49 ACE NM_000789.4(ACE):c.2626C>T (p.Pro876Ser) SNV Uncertain significance 324400 rs757874491 GRCh37: 17:61566478-61566478
GRCh38: 17:63489117-63489117
50 ACE NM_000789.4(ACE):c.1216G>A (p.Val406Ile) SNV Uncertain significance 324375 rs201117983 GRCh37: 17:61559924-61559924
GRCh38: 17:63482563-63482563

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

72
# 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

GO Terms for Renal Tubular Dysgenesis

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of inflammatory response GO:0050729 9.61 AGTR1 AGT
2 regulation of cell growth GO:0001558 9.61 AGTR1 AGT
3 regulation of blood pressure GO:0008217 9.61 REN AGT ACE
4 phospholipase C-activating G protein-coupled receptor signaling pathway GO:0007200 9.6 AGTR1 AGT
5 positive regulation of protein tyrosine kinase activity GO:0061098 9.59 AGT ACE
6 blood vessel remodeling GO:0001974 9.58 AGT ACE
7 positive regulation of reactive oxygen species metabolic process GO:2000379 9.58 AGTR1 AGT
8 regulation of blood vessel diameter GO:0097746 9.57 AGTR1 ACE
9 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.56 AGTR1 AGT
10 low-density lipoprotein particle remodeling GO:0034374 9.55 AGTR1 AGT
11 positive regulation of cellular protein metabolic process GO:0032270 9.54 AGTR1 AGT
12 amyloid-beta metabolic process GO:0050435 9.52 REN ACE
13 angiotensin maturation GO:0002003 9.51 REN ACE
14 positive regulation of cholesterol esterification GO:0010873 9.49 AGTR1 AGT
15 positive regulation of NAD(P)H oxidase activity GO:0033864 9.48 AGTR1 AGT
16 regulation of renal sodium excretion GO:0035813 9.46 AGTR1 AGT
17 kidney development GO:0001822 9.46 REN AGTR1 AGT ACE
18 regulation of vasoconstriction GO:0019229 9.43 AGTR1 AGT ACE
19 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.4 AGTR1 AGT
20 regulation of renal output by angiotensin GO:0002019 9.37 AGT ACE
21 regulation of blood volume by renin-angiotensin GO:0002016 9.32 REN AGT
22 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.13 AGTR1 AGT ACE
23 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....