RHDA3
MCID: RNL122
MIFTS: 54

Renal Hypodysplasia/aplasia 3 (RHDA3)

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

Aliases & Classifications for Renal Hypodysplasia/aplasia 3

MalaCards integrated aliases for Renal Hypodysplasia/aplasia 3:

Name: Renal Hypodysplasia/aplasia 3 58 76 30 6 17
Unilateral Renal Agenesis 30 6
Rhda3 58 76
Renal Agenesis, Unilateral 60

Characteristics:

Orphanet epidemiological data:

60
renal agenesis, unilateral
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Worldwide); Age of onset: All ages,Antenatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
incomplete penetrance
onset in utero
death in utero or in the perinatal period may occur


HPO:

33
renal hypodysplasia/aplasia 3:
Onset and clinical course incomplete penetrance congenital onset


Classifications:



External Ids:

OMIM 58 617805
MeSH 45 D007674
ICD10 34 Q60.0
ICD10 via Orphanet 35 Q60.0
UMLS via Orphanet 75 C0266294
Orphanet 60 ORPHA93100

Summaries for Renal Hypodysplasia/aplasia 3

OMIM : 58 RHDA3 is an autosomal dominant disorder characterized by abnormal kidney development beginning in utero. The phenotype is highly variable, even within families, and there is evidence for incomplete penetrance. Some affected individuals have bilateral renal agenesis, which is usually fatal in utero or in the perinatal period, whereas others may have unilateral agenesis that is compatible with life, or milder manifestations, such as vesicoureteral reflux (VUR). Female mutation carriers may also have uterine or ovarian abnormalities. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; see 610805) (summary by Brophy et al., 2017 and Sanna-Cherchi et al., 2017). For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (191830). (617805)

MalaCards based summary : Renal Hypodysplasia/aplasia 3, also known as unilateral renal agenesis, is related to renal hypodysplasia/aplasia 1 and diaphragmatic hernia, congenital. An important gene associated with Renal Hypodysplasia/aplasia 3 is GREB1L (GREB1 Like Retinoic Acid Receptor Coactivator). The drugs Tacrolimus and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and brain, and related phenotypes are hydronephrosis and horseshoe kidney

UniProtKB/Swiss-Prot : 76 Renal hypodysplasia/aplasia 3: A severe, autosomal dominant disease encompassing a spectrum of kidney development defects. Clinical manifestations are highly variable and include bilateral or unilateral renal agenesis, renal aplasia, hypoplasia, (cystic) dysplasia, severe obstructive uropathy, and vesicoureteral reflux. Bilateral renal agenesis is almost invariably fatal in utero or in the perinatal period. Unilateral renal agenesis can lead to future health issues including end-stage renal disease.

Related Diseases for Renal Hypodysplasia/aplasia 3

Diseases in the Renal Hypodysplasia/aplasia 1 family:

Renal Hypodysplasia/aplasia 2 Renal Hypodysplasia/aplasia 3

Diseases related to Renal Hypodysplasia/aplasia 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 renal hypodysplasia/aplasia 1 30.4 FRAS1 FREM1 FREM2 GREB1L RET
2 diaphragmatic hernia, congenital 29.2 FRAS1 FREM1 FREM2
3 cakut 28.7 BMP4 FRAS1 FREM2 RET
4 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs 12.3
5 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 12.3
6 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 12.3
7 aniridia renal agenesis psychomotor retardation 11.8
8 santos mateus leal syndrome 11.6
9 mayer-rokitansky-kuster-hauser syndrome 11.5
10 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 11.4
11 ellis yale winter syndrome 11.3
12 murcs association 11.3
13 ritscher-schinzel syndrome 1 11.2
14 neurofaciodigitorenal syndrome 11.2
15 renal hypodysplasia/aplasia 2 11.2
16 anus, imperforate 10.1 DSTYK GREB1L
17 renal agenesis, bilateral 10.1 GREB1L RET
18 congenital anomalies of kidney and urinary tract 1 10.1 DSTYK UPK3A
19 non-invasive bladder papillary urothelial neoplasm 10.1 FGFR3 UPK3A
20 renal dysplasia 10.1
21 pectus excavatum 10.0 FGFR3 TMCO1
22 exstrophy of bladder 10.0
23 focal segmental glomerulosclerosis 1 10.0
24 kallmann syndrome 10.0
25 true unicornuate uterus 10.0
26 synovial chondromatosis 9.9 BMP4 FGFR3
27 adenosquamous lung carcinoma 9.9 FGFR3 RET
28 bladder urothelial carcinoma 9.9 FGFR3 TMCO1 UPK3A
29 achondroplasia 9.8
30 sotos syndrome 1 9.8
31 hirschsprung disease 1 9.8
32 hypertelorism 9.8
33 lentigines 9.8
34 leopard syndrome 1 9.8
35 meckel diverticulum 9.8
36 thyroid carcinoma, familial medullary 9.8
37 ureterocele 9.8
38 uterine anomalies 9.8
39 vater/vacterl association 9.8
40 vesicoureteral reflux 1 9.8
41 meckel syndrome, type 1 9.8
42 phenylketonuria 9.8
43 vas deferens, congenital bilateral aplasia of 9.8
44 ichthyosis, x-linked 9.8
45 wilms tumor 5 9.8
46 polydactyly 9.8
47 basal cell carcinoma 1 9.8
48 maturity-onset diabetes of the young 9.8
49 lipomyelomeningocele 9.8
50 membranous nephropathy 9.8

Graphical network of the top 20 diseases related to Renal Hypodysplasia/aplasia 3:



Diseases related to Renal Hypodysplasia/aplasia 3

Symptoms & Phenotypes for Renal Hypodysplasia/aplasia 3

Human phenotypes related to Renal Hypodysplasia/aplasia 3:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hydronephrosis 33 very rare (1%) HP:0000126
2 horseshoe kidney 33 HP:0000085
3 multicystic kidney dysplasia 33 HP:0000003
4 abnormality of the uterus 33 HP:0000130
5 renal agenesis 33 HP:0000104
6 renal dysplasia 33 HP:0000110

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
horseshoe kidney
renal dysplasia
renal aplasia
multicystic kidneys (less common)

Head And Neck Face:
potter sequence (rare)

Genitourinary Bladder:
vesicoureteral reflux (in some patients)

Genitourinary Ureters:
hydronephrosis (in some patients)
duplicated ureter (in some patients)

Genitourinary Internal Genitalia Female:
uterine abnormalities (n some patients)
ovarian abnormalities (in some patients)

Clinical features from OMIM:

617805

GenomeRNAi Phenotypes related to Renal Hypodysplasia/aplasia 3 according to GeneCards Suite gene sharing:

27 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.68 FREM1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.68 DSTYK
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.68 FGFR3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.68 FGFR3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.68 FREM1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.68 RET
7 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.68 RET
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.68 DSTYK
9 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.68 RET
10 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.68 RET
11 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.68 DSTYK
12 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.68 RET
13 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.68 FREM1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.68 FREM1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.68 FGFR3 RET
16 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.68 FGFR3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.68 RET
18 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.68 DSTYK
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.68 DSTYK FGFR3 FREM1 RET

MGI Mouse Phenotypes related to Renal Hypodysplasia/aplasia 3:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.03 BMP4 FGFR3 FRAS1 FREM1 FREM2 GREB1L
2 mortality/aging MP:0010768 9.97 BMP4 FGFR3 FRAS1 FREM1 FREM2 GREB1L
3 craniofacial MP:0005382 9.95 BMP4 FGFR3 FRAS1 FREM1 FREM2 TMCO1
4 digestive/alimentary MP:0005381 9.93 BMP4 FGFR3 FRAS1 FREM1 GREB1L RET
5 nervous system MP:0003631 9.92 BMP4 DSTYK FGFR3 FREM1 FREM2 GREB1L
6 limbs/digits/tail MP:0005371 9.88 BMP4 FGFR3 FRAS1 FREM1 FREM2 RET
7 renal/urinary system MP:0005367 9.86 BMP4 FGFR3 FRAS1 FREM1 FREM2 GREB1L
8 reproductive system MP:0005389 9.63 BMP4 FGFR3 FREM1 FREM2 GREB1L RET
9 respiratory system MP:0005388 9.5 BMP4 FGFR3 FRAS1 FREM1 FREM2 GREB1L
10 skeleton MP:0005390 9.1 BMP4 FGFR3 FRAS1 FREM1 FREM2 TMCO1

Drugs & Therapeutics for Renal Hypodysplasia/aplasia 3

Drugs for Renal Hypodysplasia/aplasia 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 2, Phase 3 104987-11-3 445643 439492 6473866
2 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
3 Immunologic Factors Phase 2, Phase 3,Not Applicable
4 Calcineurin Inhibitors Phase 2, Phase 3
5
Etanercept Approved, Investigational Phase 2 185243-69-0
6
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
7
Ribavirin Approved Phase 1, Phase 2 36791-04-5 37542
8
Sofosbuvir Approved Phase 1, Phase 2 1190307-88-0 45375808
9 Analgesics, Non-Narcotic Phase 2
10 Antirheumatic Agents Phase 2
11 Gastrointestinal Agents Phase 2
12 Analgesics Phase 2,Not Applicable
13 Anti-Inflammatory Agents, Non-Steroidal Phase 2
14 Peripheral Nervous System Agents Phase 2,Not Applicable
15 Anti-Inflammatory Agents Phase 2
16 Anti-Infective Agents Phase 2,Phase 1
17 Cyclosporins Phase 2
18 Antifungal Agents Phase 2
19 Dermatologic Agents Phase 2
20 MK-5172 Phase 1, Phase 2
21 Elbasvir-grazoprevir drug combination Phase 1, Phase 2
22 Antiviral Agents Phase 1, Phase 2
23
Fentanyl Approved, Illicit, Investigational, Vet_approved Not Applicable 437-38-7 3345
24
Bupivacaine Approved, Investigational Not Applicable 2180-92-9, 38396-39-3 2474
25
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
26
Mycophenolic acid Approved 24280-93-1 446541
27
Everolimus Approved Not Applicable 159351-69-6 6442177 70789204
28
Sirolimus Approved, Investigational Not Applicable 53123-88-9 46835353 6436030 5284616
29
Dopamine Approved Not Applicable 62-31-7, 51-61-6 681
30
Fenoldopam Approved Not Applicable 67227-57-0, 67227-56-9 3341
31 Analgesics, Opioid Not Applicable
32 Central Nervous System Depressants Not Applicable
33 Narcotics Not Applicable
34 Anesthetics Not Applicable
35 Anesthetics, Intravenous Not Applicable
36 Anesthetics, Local Not Applicable
37 Sodium Channel Blockers Not Applicable
38 Anti-Arrhythmia Agents Not Applicable
39 Adjuvants, Anesthesia Not Applicable
40 Diuretics, Potassium Sparing Not Applicable
41 Anesthetics, General Not Applicable
42 Anti-Bacterial Agents
43 Antibiotics, Antitubercular
44 Antitubercular Agents
45 Pharmaceutical Solutions Not Applicable
46 Neurotransmitter Agents Not Applicable
47 Vasodilator Agents Not Applicable
48 Dopamine Agents Not Applicable
49 Dopamine agonists Not Applicable
50 Antihypertensive Agents Not Applicable

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Impact of Envarsus XR® on Kidney Biopsy Subclinical Rejection and Blood Immunologic Profile Recruiting NCT03321656 Phase 2, Phase 3 Tacrolimus;Envarsus XR
2 Limitation of Ischemic Injury of a Kidney Stored in Machine Perfusion in Hypothermia - Evaluation of the Impact on Kidney Allograft Function Completed NCT01731457 Phase 2 etanercept
3 Ciclosporin A Preconditioning for Renal Artery Stenosis Recruiting NCT03382301 Phase 2 Ciclosporin A preconditioning before renal artery stenosis dilation;NaCl preconditioning before renal artery stenosis dilation
4 Zepatier For Treatment Of Hepatitis C-Negative Patients Who Receive Kidney Transplants From Hepatitis C-Positive Donors (HCV) Recruiting NCT02743897 Phase 1, Phase 2 Zepatier
5 Hypoxia and Inflammatory Injury in Human Renovascular Hypertension Active, not recruiting NCT02266394 Phase 1 Mesenchymal stem cell
6 Patient-derived Stem Cell Therapy for Diabetic Kidney Disease Not yet recruiting NCT03840343 Phase 1
7 Long Term Outcome of Congenital Solitary Kidney Unknown status NCT01831141
8 Hemodynamic Optimization During Single Kidney Transplantation With MostcareUP Completed NCT03446196 Not Applicable
9 Continuous Epidural Fentanyl- Low Dose Bupivacaine Infusion Analgesia for Precious Single Kidney Patient. Completed NCT03606902 Not Applicable Group F: Continous epidural infusion of bupivacaine plus fentanyl;Group LF :Continous epidural infusion of decreasing doses of fentanyl plus pubivacaine
10 Comparative Renal Function of Young (18-45 Years) and Ageing (55 Years and Above) Kidney Donors Completed NCT00846729
11 A 1-year Comparison of Generic Tacrolimus (Tacni) and Prograf in Renal Transplant Patients - a Retrospective Matched Pair Analysis, GenTac Completed NCT02587052 Generic tacrolimus;Prograf
12 Reasons for Mycophenolate Mofetil Dose Reduction and Impact on Graft Outcome in Renal Transplant Recipients Completed NCT01496703
13 Effect of Double J Stent on Outcomes of Extracorporeal Shock Wave Lithotripsy Completed NCT03636516 Not Applicable
14 Live Donors for Kidney Transplants Completed NCT00001856
15 Improving Medication Safety and CVD Risk Factor Control in Kidney Transplant Recipients Completed NCT02763943 Not Applicable
16 A Pilot Study Using Autologous Regulatory T Cell Infusion Zortress (Everolimus) in Renal Transplant Recipients Recruiting NCT03284242 Not Applicable
17 Dynamic Measurement of Renal Functional Reserve as a Predictor of Long-Term Renal Function Recruiting NCT03442647 Not Applicable
18 Ultrasound First Clinical Decision Support for Suspected Nephrolithiasis Recruiting NCT03461536 Not Applicable
19 The Effect of Fenoldopam in Solitary Partial Nephrectomy Surgery Terminated NCT00743106 Not Applicable Fenoldopam;Placebo
20 Evaluation of Kidney Function in Children With Brain Tumors Withdrawn NCT00229801 Not Applicable
21 Functional, Dynamic, and Anatomic MR Urography Withdrawn NCT00585767

Search NIH Clinical Center for Renal Hypodysplasia/aplasia 3

Genetic Tests for Renal Hypodysplasia/aplasia 3

Genetic tests related to Renal Hypodysplasia/aplasia 3:

# Genetic test Affiliating Genes
1 Renal Hypodysplasia/aplasia 3 30 GREB1L
2 Unilateral Renal Agenesis 30

Anatomical Context for Renal Hypodysplasia/aplasia 3

MalaCards organs/tissues related to Renal Hypodysplasia/aplasia 3:

42
Kidney, Uterus, Brain, T Cells, Prostate, Colon, Thyroid

Publications for Renal Hypodysplasia/aplasia 3

Articles related to Renal Hypodysplasia/aplasia 3:

(show top 50) (show all 143)
# Title Authors Year
1
Unilateral renal agenesis and abrupt onset diabetes: an unfrequent form of MODY type diabetes. ( 29525113 )
2019
2
The clinical characteristics of Chinese patients with unilateral renal agenesis. ( 30734167 )
2019
3
Unilateral Renal Agenesis Diagnosed on Early Prenatal Trans-Vaginal Scans. ( 30772957 )
2019
4
Complete dorsal pancreatic agenesis and unilateral renal agenesis. ( 29487639 )
2018
5
Unilateral renal agenesis as an early marker for genetic screening in Kallmann syndrome. ( 30255480 )
2018
6
Congenital anal atresia with rectovestibular fistula, scoliosis, unilateral renal agenesis, and finger defect (VACTERL association) in a patient with partial bicornuate uterus and distal vaginal atresia: A case report. ( 30407282 )
2018
7
Screening for Mullerian anomalies in patients with unilateral renal agenesis: Leveraging early detection to prevent complications. ( 29459133 )
2018
8
Association of Unilateral Renal Agenesis With Adverse Outcomes in Pregnancy: A Matched Cohort Study. ( 28396109 )
2017
9
Unilateral renal agenesis with subseptate uterus and sacrococcygeal teratoma: A unique triad. ( 29089677 )
2017
10
Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis. ( 28618409 )
2017
11
Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries. ( 28722320 )
2017
12
Non-diethylstilbestrol exposed vaginal adenocarcinoma in young patients associated with unilateral renal agenesis: two case reports and literature review. ( 29767889 )
2017
13
[Unilateral renal agenesis. New arguments about the genetic relationship between kidney malformations and urolithiasis]. ( 26669685 )
2016
14
Pseudo-Exstrophy of Bladder with Unilateral Renal Agenesis: A Rare Combination of two Anomalies. ( 28208931 )
2016
15
Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report. ( 27036947 )
2016
16
Unilateral Renal Agenesis: Necessity of Postnatal Evaluation in a Contemporary Series. ( 27421781 )
2016
17
Prenatal compensatory renal growth in unilateral renal agenesis. ( 27734512 )
2016
18
Leiomyoma Arising from Mullerian Remnant, Mimicking Ovarian Tumor in a Woman with MRKH Syndrome and Unilateral Renal Agenesis. ( 26949305 )
2015
19
Penetrating trauma to the kidney and Meckel's Diverticulum in a patient with unilateral renal agenesis. ( 26624504 )
2015
20
Meckel-Gruber Syndrome with unilateral renal agenesis. ( 25933467 )
2015
21
Reproductive outcome in uterine malformations with or without an associated unilateral renal agenesis. ( 24597290 )
2014
22
Congenital absence of the vas deferens and unilateral renal agenesis: implications for patient and family. ( 24879556 )
2014
23
Waardenburg Syndrome With Familial Unilateral Renal Agenesis: A New Syndrome Variant? ( 25402868 )
2014
24
Perineal lipoma with accessory labioscrotal fold and penis-like phallus in a female infant with unilateral renal agenesis. ( 24857274 )
2014
25
Unilateral Branchial Sinus with Unilateral Renal Agenesis: A Variant of BOR Syndrome? A Case Report. ( 24533416 )
2014
26
An abnormally large prostatic utricle cyst associated with unilateral renal agenesis. ( 23798876 )
2013
27
Herlyn-Werner-Wuderlich syndrome: uterus didelphys and obstructed hemivagina with unilateral renal agenesis. ( 23484247 )
2013
28
Renal outcome of children with unilateral renal agenesis. ( 24577979 )
2013
29
Unilateral renal agenesis: a systematic review on associated anomalies and renal injury. ( 23449343 )
2013
30
A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis. ( 24152999 )
2013
31
Renal function and solitary kidney disease: Wilms tumour survivors versus patients with unilateral renal agenesis. ( 22116374 )
2012
32
Unilateral renal agenesis and urethral atresia associated with ergotamine intake during pregnancy. ( 22417229 )
2012
33
Nephrogenic rest within a lipomyelomeningocele in a patient with unilateral renal agenesis. ( 22432683 )
2012
34
A new syndrome of microtia with unilateral renal agenesis and short stature. ( 22711661 )
2012
35
Klippel-Feil syndrome with unilateral renal agenesis and renal failure. ( 23767212 )
2012
36
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. ( 21900877 )
2012
37
Persistent falcine sinus and unilateral renal agenesis in a girl with Sotos syndrome. ( 21084978 )
2011
38
A case of maternal phenylketonuria syndrome presenting with unilateral renal agenesis. ( 20595329 )
2011
39
Age-related pathophysiological changes in rats with unilateral renal agenesis. ( 21307619 )
2011
40
Unilateral renal agenesis with absent ductus deferens, epididymis and seminal vesicle: incidental finding in a 22-year-old patient with maldevelopment of the mesonephric duct. ( 21160165 )
2011
41
Tenofovir induced acute kidney injury in a patient with unilateral renal agenesis despite initially non-impaired renal function. ( 22112365 )
2011
42
Blind hemibladder, ectopic ureterocele, or Gartner's duct cyst in a woman with MA1llerian malformation and supposed unilateral renal agenesis: a case report. ( 19597716 )
2010
43
Unilateral non-communicating cervical atresia in a patient with uterus didelphys and unilateral renal agenesis. ( 20813328 )
2010
44
Array-CGH and quantitative PCR genetic analysis in a case with bilateral hypoplasia of pulmonary arteries and lungs and simultaneous unilateral renal agenesis. ( 20830244 )
2010
45
Editorial comment to Retrovesical cystic lesions in female patients with unilateral renal agenesis or dysplasia. ( 20482666 )
2010
46
Unilateral renal agenesis and female genital tract pathologies. ( 20799917 )
2010
47
A new association or coincidence: achondroplasia and unilateral renal agenesis. ( 21290977 )
2010
48
Congenital pouch colon with unilateral renal agenesis and monorchism. ( 23056753 )
2010
49
Retrovesical cystic lesions in female patients with unilateral renal agenesis or dysplasia. ( 20345491 )
2010
50
Adult presentation of congenital ectopic vas deferens insertion into ureter with unilateral renal agenesis. ( 19629371 )
2010

Variations for Renal Hypodysplasia/aplasia 3

UniProtKB/Swiss-Prot genetic disease variations for Renal Hypodysplasia/aplasia 3:

76 (show all 25)
# Symbol AA change Variation ID SNP ID
1 GREB1L p.Arg128His VAR_080092
2 GREB1L p.Arg192Leu VAR_080093
3 GREB1L p.Gly273Val VAR_080095
4 GREB1L p.Arg328Gln VAR_080096 rs131181459
5 GREB1L p.Ala497Gly VAR_080097
6 GREB1L p.Ser605Arg VAR_080099
7 GREB1L p.Leu716Phe VAR_080100
8 GREB1L p.Arg751Cys VAR_080101
9 GREB1L p.Arg751His VAR_080102 rs134357956
10 GREB1L p.Glu761Gln VAR_080103 rs146544306
11 GREB1L p.Arg1066Pro VAR_080106 rs766987038
12 GREB1L p.Met1502Thr VAR_080108
13 GREB1L p.Asp1509Val VAR_080109 rs133620583
14 GREB1L p.His1536Arg VAR_080110
15 GREB1L p.Val1549Ala VAR_080111
16 GREB1L p.Arg1558Ser VAR_080112 rs104557450
17 GREB1L p.Leu1567Pro VAR_080114
18 GREB1L p.Ala1576Val VAR_080115
19 GREB1L p.Val1615Ile VAR_080116 rs140937678
20 GREB1L p.Ile1655Thr VAR_080117
21 GREB1L p.Tyr1664Cys VAR_080118
22 GREB1L p.Val1690Met VAR_080119
23 GREB1L p.Asp1775Asn VAR_080120
24 GREB1L p.Leu1793Arg VAR_080121
25 GREB1L p.Arg1884His VAR_080122 rs137264021

ClinVar genetic disease variations for Renal Hypodysplasia/aplasia 3:

6 (show all 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
2 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh38 Chromosome 4, 1801844: 1801844
3 SOX3 NM_005634.2(SOX3): c.735_737dupCGC (p.Ala248_Ser249insAla) duplication Uncertain significance rs398124211 GRCh37 Chromosome X, 139586489: 139586491
4 SOX3 NM_005634.2(SOX3): c.735_737dupCGC (p.Ala248_Ser249insAla) duplication Uncertain significance rs398124211 GRCh38 Chromosome X, 140504324: 140504326
5 46;XY;t(6;12)(q14;q24);20p+dn complex Pathogenic
6 GREB1L NM_001142966.2(GREB1L): c.5378T> G (p.Leu1793Arg) single nucleotide variant Pathogenic rs1555664772 GRCh37 Chromosome 18, 19098101: 19098101
7 GREB1L NM_001142966.2(GREB1L): c.5378T> G (p.Leu1793Arg) single nucleotide variant Pathogenic rs1555664772 GRCh38 Chromosome 18, 21518140: 21518140
8 GREB1L NM_001142966.2(GREB1L): c.5608+1delG deletion Pathogenic rs1555665627 GRCh37 Chromosome 18, 19100785: 19100785
9 GREB1L NM_001142966.2(GREB1L): c.5608+1delG deletion Pathogenic rs1555665627 GRCh38 Chromosome 18, 21520824: 21520824
10 GREB1L NM_001142966.2(GREB1L): c.3998_3999insC (p.Leu1334Profs) insertion Pathogenic rs1555660209 GRCh38 Chromosome 18, 21500568: 21500569
11 GREB1L NM_001142966.2(GREB1L): c.3998_3999insC (p.Leu1334Profs) insertion Pathogenic rs1555660209 GRCh37 Chromosome 18, 19080529: 19080530
12 GREB1L NM_001142966.2(GREB1L): c.4680C> A (p.Tyr1560Ter) single nucleotide variant Pathogenic rs1555662052 GRCh38 Chromosome 18, 21508536: 21508536
13 GREB1L NM_001142966.2(GREB1L): c.4680C> A (p.Tyr1560Ter) single nucleotide variant Pathogenic rs1555662052 GRCh37 Chromosome 18, 19088497: 19088497
14 GREB1L NM_001142966.2(GREB1L): c.4700T> C (p.Leu1567Pro) single nucleotide variant Pathogenic rs1555662061 GRCh38 Chromosome 18, 21508556: 21508556
15 GREB1L NM_001142966.2(GREB1L): c.4700T> C (p.Leu1567Pro) single nucleotide variant Pathogenic rs1555662061 GRCh37 Chromosome 18, 19088517: 19088517
16 GREB1L NM_001142966.2(GREB1L): c.5068G> A (p.Val1690Met) single nucleotide variant Pathogenic rs1555663997 GRCh37 Chromosome 18, 19095544: 19095544
17 GREB1L NM_001142966.2(GREB1L): c.5068G> A (p.Val1690Met) single nucleotide variant Pathogenic rs1555663997 GRCh38 Chromosome 18, 21515583: 21515583
18 GREB1L NM_001142966.2(GREB1L): c.3295C> T (p.Gln1099Ter) single nucleotide variant Pathogenic rs1555659101 GRCh37 Chromosome 18, 19076563: 19076563
19 GREB1L NM_001142966.2(GREB1L): c.3295C> T (p.Gln1099Ter) single nucleotide variant Pathogenic rs1555659101 GRCh38 Chromosome 18, 21496602: 21496602
20 GREB1L NM_001142966.2(GREB1L): c.1582delC (p.Gln528Argfs) deletion Pathogenic rs1555649811 GRCh37 Chromosome 18, 19029659: 19029659
21 GREB1L NM_001142966.2(GREB1L): c.1582delC (p.Gln528Argfs) deletion Pathogenic rs1555649811 GRCh38 Chromosome 18, 21449698: 21449698
22 GREB1L NM_001142966.2(GREB1L): c.4369-1G> C single nucleotide variant Pathogenic rs1555661907 GRCh37 Chromosome 18, 19088078: 19088078
23 GREB1L NM_001142966.2(GREB1L): c.4369-1G> C single nucleotide variant Pathogenic rs1555661907 GRCh38 Chromosome 18, 21508117: 21508117
24 GREB1L NM_001142966.2(GREB1L): c.1780G> T (p.Glu594Ter) single nucleotide variant Pathogenic rs1555650110 GRCh38 Chromosome 18, 21451082: 21451082
25 GREB1L NM_001142966.2(GREB1L): c.1780G> T (p.Glu594Ter) single nucleotide variant Pathogenic rs1555650110 GRCh37 Chromosome 18, 19031043: 19031043
26 GREB1L NM_001142966.2(GREB1L): c.4607A> G (p.His1536Arg) single nucleotide variant Pathogenic rs1555662027 GRCh38 Chromosome 18, 21508463: 21508463
27 GREB1L NM_001142966.2(GREB1L): c.4607A> G (p.His1536Arg) single nucleotide variant Pathogenic rs1555662027 GRCh37 Chromosome 18, 19088424: 19088424
28 GREB1L NM_001142966.2(GREB1L): c.2251C> T (p.Arg751Cys) single nucleotide variant Pathogenic rs1555654020 GRCh38 Chromosome 18, 21473099: 21473099
29 GREB1L NM_001142966.2(GREB1L): c.2251C> T (p.Arg751Cys) single nucleotide variant Pathogenic rs1555654020 GRCh37 Chromosome 18, 19053060: 19053060
30 GREB1L NM_001142966.2(GREB1L): c.983G> A (p.Arg328Gln) single nucleotide variant Pathogenic rs1311814599 GRCh38 Chromosome 18, 21440302: 21440302
31 GREB1L NM_001142966.2(GREB1L): c.983G> A (p.Arg328Gln) single nucleotide variant Pathogenic rs1311814599 GRCh37 Chromosome 18, 19020263: 19020263
32 FREM2 NM_207361.5(FREM2): c.6727C> T (p.Arg2243Ter) single nucleotide variant Pathogenic rs767978562 GRCh37 Chromosome 13, 39425230: 39425230
33 FREM2 NM_207361.5(FREM2): c.6727C> T (p.Arg2243Ter) single nucleotide variant Pathogenic rs767978562 GRCh38 Chromosome 13, 38851093: 38851093
34 ERI1 NM_153332.3(ERI1): c.627delA (p.Val210Terfs) deletion Likely pathogenic GRCh38 Chromosome 8, 9018341: 9018341
35 ERI1 NM_153332.3(ERI1): c.627delA (p.Val210Terfs) deletion Likely pathogenic GRCh37 Chromosome 8, 8875851: 8875851
36 TMCO1 NM_019026.4(TMCO1): c.616C> T (p.Arg206Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 165712409: 165712409
37 TMCO1 NM_019026.4(TMCO1): c.616C> T (p.Arg206Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 165743172: 165743172

Expression for Renal Hypodysplasia/aplasia 3

Search GEO for disease gene expression data for Renal Hypodysplasia/aplasia 3.

Pathways for Renal Hypodysplasia/aplasia 3

GO Terms for Renal Hypodysplasia/aplasia 3

Cellular components related to Renal Hypodysplasia/aplasia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.8 FRAS1 FREM1 FREM2

Biological processes related to Renal Hypodysplasia/aplasia 3 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 embryonic digit morphogenesis GO:0042733 9.52 BMP4 FREM2
2 embryonic limb morphogenesis GO:0030326 9.51 BMP4 FRAS1
3 peptidyl-tyrosine phosphorylation GO:0018108 9.5 DSTYK FGFR3 RET
4 branching involved in ureteric bud morphogenesis GO:0001658 9.49 BMP4 GREB1L
5 ureteric bud development GO:0001657 9.48 BMP4 RET
6 chondrocyte differentiation GO:0002062 9.46 BMP4 FGFR3
7 metanephros development GO:0001656 9.43 BMP4 GREB1L
8 negative regulation of apoptotic process GO:0043066 9.4 BMP4 DSTYK
9 endochondral ossification GO:0001958 9.37 BMP4 FGFR3
10 kidney development GO:0001822 9.33 BMP4 GREB1L UPK3A
11 morphogenesis of an epithelium GO:0002009 9.26 FRAS1 FREM2
12 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.13 BMP4 DSTYK FGFR3
13 cell communication GO:0007154 8.8 FRAS1 FREM1 FREM2

Molecular functions related to Renal Hypodysplasia/aplasia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.96 FGFR3 RET
2 protein tyrosine kinase activity GO:0004713 8.8 DSTYK FGFR3 RET

Sources for Renal Hypodysplasia/aplasia 3

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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