RHDA3
MCID: RNL122
MIFTS: 49

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 57 75 29 6
Unilateral Renal Agenesis 29 6
Rhda3 57 75
Renal Agenesis, Unilateral 59

Characteristics:

Orphanet epidemiological data:

59
renal agenesis, unilateral
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Worldwide); Age of onset: All ages,Antenatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
renal hypodysplasia/aplasia 3:
Onset and clinical course incomplete penetrance congenital onset


Classifications:



External Ids:

OMIM 57 617805
Orphanet 59 ORPHA93100
UMLS via Orphanet 74 C0266294
ICD10 via Orphanet 34 Q60.0
MedGen 42 CN703737
MeSH 44 D007674
ICD10 33 Q60.0

Summaries for Renal Hypodysplasia/aplasia 3

OMIM : 57 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), and among its related pathways/superpathways is Central carbon metabolism in cancer. Affiliated tissues include kidney, uterus and prostate, and related phenotypes are horseshoe kidney and multicystic kidney dysplasia

UniProtKB/Swiss-Prot : 75 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 78)
# Related Disease Score Top Affiliating Genes
1 renal hypodysplasia/aplasia 1 30.8 FRAS1 FREM1 FREM2 GREB1L RET
2 diaphragmatic hernia, congenital 29.4 FRAS1 FREM1 FREM2
3 cakut 29.0 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 ellis yale winter syndrome 11.3
11 murcs association 11.3
12 ritscher-schinzel syndrome 1 11.2
13 neurofaciodigitorenal syndrome 11.2
14 renal hypodysplasia/aplasia 2 11.2
15 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 11.2
16 renal dysplasia 10.1
17 anus, imperforate 10.1 DSTYK GREB1L
18 renal agenesis, bilateral 10.1 GREB1L RET
19 congenital anomalies of kidney and urinary tract 1 10.0 DSTYK UPK3A
20 non-invasive bladder papillary urothelial neoplasm 10.0 FGFR3 UPK3A
21 exstrophy of bladder 10.0
22 focal segmental glomerulosclerosis 1 10.0
23 kallmann syndrome 10.0
24 true unicornuate uterus 10.0
25 synovial chondromatosis 10.0 BMP4 FGFR3
26 adenosquamous lung carcinoma 9.9 FGFR3 RET
27 bladder disease 9.9 FGFR3 UPK3A
28 ablepharon-macrostomia syndrome 9.9 FRAS1 FREM2
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 polydactyly 9.8
46 basal cell carcinoma 1 9.8
47 maturity-onset diabetes of the young 9.8
48 lipomyelomeningocele 9.8
49 membranous nephropathy 9.8
50 wilms tumor 6 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Renal Hypodysplasia/aplasia 3:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 horseshoe kidney 32 HP:0000085
2 multicystic kidney dysplasia 32 HP:0000003
3 abnormality of the uterus 32 HP:0000130
4 hydronephrosis 32 very rare (1%) HP:0000126
5 renal agenesis 32 HP:0000104
6 renal dysplasia 32 HP:0000110

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

26 (show all 20)
# 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
20 Increased colony dispersion (increased number of colonies and decreased number of cells per colony) GR00212-A 8.96 DSTYK RET

MGI Mouse Phenotypes related to Renal Hypodysplasia/aplasia 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.95 BMP4 FGFR3 FRAS1 FREM1 FREM2 GREB1L
2 digestive/alimentary MP:0005381 9.91 BMP4 FGFR3 FRAS1 FREM1 GREB1L RET
3 nervous system MP:0003631 9.87 BMP4 DSTYK FGFR3 FREM1 FREM2 GREB1L
4 renal/urinary system MP:0005367 9.86 BMP4 FGFR3 FRAS1 FREM1 FREM2 GREB1L
5 craniofacial MP:0005382 9.85 BMP4 FGFR3 FRAS1 FREM1 FREM2
6 limbs/digits/tail MP:0005371 9.85 BMP4 FGFR3 FRAS1 FREM1 FREM2 RET
7 reproductive system MP:0005389 9.63 BMP4 FGFR3 FREM1 FREM2 GREB1L RET
8 respiratory system MP:0005388 9.5 BMP4 FGFR3 FRAS1 FREM1 FREM2 GREB1L
9 vision/eye MP:0005391 9.02 BMP4 FGFR3 FRAS1 FREM1 FREM2

Drugs & Therapeutics for Renal Hypodysplasia/aplasia 3

Search Clinical Trials , 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 29 GREB1L
2 Unilateral Renal Agenesis 29

Anatomical Context for Renal Hypodysplasia/aplasia 3

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

41
Kidney, Uterus, Prostate, Lung, Colon, Thyroid, Heart

Publications for Renal Hypodysplasia/aplasia 3

Articles related to Renal Hypodysplasia/aplasia 3:

(show top 50) (show all 141)
# Title Authors Year
1
Complete dorsal pancreatic agenesis and unilateral renal agenesis. ( 29487639 )
2018
2
Unilateral renal agenesis as an early marker for genetic screening in Kallmann syndrome. ( 30255480 )
2018
3
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
4
Screening for Mullerian anomalies in patients with unilateral renal agenesis: Leveraging early detection to prevent complications. ( 29459133 )
2018
5
Unilateral renal agenesis and abrupt onset diabetes: an unfrequent form of MODY type diabetes. ( 29525113 )
2018
6
Association of Unilateral Renal Agenesis With Adverse Outcomes in Pregnancy: A Matched Cohort Study. ( 28396109 )
2017
7
Unilateral renal agenesis with subseptate uterus and sacrococcygeal teratoma: A unique triad. ( 29089677 )
2017
8
Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis. ( 28618409 )
2017
9
Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries. ( 28722320 )
2017
10
Non-diethylstilbestrol exposed vaginal adenocarcinoma in young patients associated with unilateral renal agenesis: two case reports and literature review. ( 29767889 )
2017
11
[Unilateral renal agenesis. New arguments about the genetic relationship between kidney malformations and urolithiasis]. ( 26669685 )
2016
12
Pseudo-Exstrophy of Bladder with Unilateral Renal Agenesis: A Rare Combination of two Anomalies. ( 28208931 )
2016
13
Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report. ( 27036947 )
2016
14
Unilateral Renal Agenesis: Necessity of Postnatal Evaluation in a Contemporary Series. ( 27421781 )
2016
15
Prenatal compensatory renal growth in unilateral renal agenesis. ( 27734512 )
2016
16
Leiomyoma Arising from Mullerian Remnant, Mimicking Ovarian Tumor in a Woman with MRKH Syndrome and Unilateral Renal Agenesis. ( 26949305 )
2015
17
Meckel-Gruber Syndrome with unilateral renal agenesis. ( 25933467 )
2015
18
Penetrating trauma to the kidney and Meckel's Diverticulum in a patient with unilateral renal agenesis. ( 26624504 )
2015
19
Reproductive outcome in uterine malformations with or without an associated unilateral renal agenesis. ( 24597290 )
2014
20
Congenital absence of the vas deferens and unilateral renal agenesis: implications for patient and family. ( 24879556 )
2014
21
Waardenburg Syndrome With Familial Unilateral Renal Agenesis: A New Syndrome Variant? ( 25402868 )
2014
22
Perineal lipoma with accessory labioscrotal fold and penis-like phallus in a female infant with unilateral renal agenesis. ( 24857274 )
2014
23
Unilateral Branchial Sinus with Unilateral Renal Agenesis: A Variant of BOR Syndrome? A Case Report. ( 24533416 )
2014
24
An abnormally large prostatic utricle cyst associated with unilateral renal agenesis. ( 23798876 )
2013
25
Herlyn-Werner-Wuderlich syndrome: uterus didelphys and obstructed hemivagina with unilateral renal agenesis. ( 23484247 )
2013
26
Renal outcome of children with unilateral renal agenesis. ( 24577979 )
2013
27
Unilateral renal agenesis: a systematic review on associated anomalies and renal injury. ( 23449343 )
2013
28
A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis. ( 24152999 )
2013
29
Renal function and solitary kidney disease: Wilms tumour survivors versus patients with unilateral renal agenesis. ( 22116374 )
2012
30
Unilateral renal agenesis and urethral atresia associated with ergotamine intake during pregnancy. ( 22417229 )
2012
31
Nephrogenic rest within a lipomyelomeningocele in a patient with unilateral renal agenesis. ( 22432683 )
2012
32
A new syndrome of microtia with unilateral renal agenesis and short stature. ( 22711661 )
2012
33
Klippel-Feil syndrome with unilateral renal agenesis and renal failure. ( 23767212 )
2012
34
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. ( 21900877 )
2012
35
Persistent falcine sinus and unilateral renal agenesis in a girl with Sotos syndrome. ( 21084978 )
2011
36
A case of maternal phenylketonuria syndrome presenting with unilateral renal agenesis. ( 20595329 )
2011
37
Age-related pathophysiological changes in rats with unilateral renal agenesis. ( 21307619 )
2011
38
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
39
Tenofovir induced acute kidney injury in a patient with unilateral renal agenesis despite initially non-impaired renal function. ( 22112365 )
2011
40
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
41
Unilateral non-communicating cervical atresia in a patient with uterus didelphys and unilateral renal agenesis. ( 20813328 )
2010
42
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
43
Editorial comment to Retrovesical cystic lesions in female patients with unilateral renal agenesis or dysplasia. ( 20482666 )
2010
44
Unilateral renal agenesis and female genital tract pathologies. ( 20799917 )
2010
45
A new association or coincidence: achondroplasia and unilateral renal agenesis. ( 21290977 )
2010
46
Congenital pouch colon with unilateral renal agenesis and monorchism. ( 23056753 )
2010
47
Retrovesical cystic lesions in female patients with unilateral renal agenesis or dysplasia. ( 20345491 )
2010
48
Adult presentation of congenital ectopic vas deferens insertion into ureter with unilateral renal agenesis. ( 19629371 )
2010
49
Kabuki make-up syndrome with unilateral renal agenesis. ( 19817278 )
2009
50
The unilateral urogenital anomalies (UUA) rat: a new mutant strain associated with unilateral renal agenesis, cryptorchidism, and malformations of reproductive organs restricted to the left side. ( 19619415 )
2009

Variations for Renal Hypodysplasia/aplasia 3

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

75 (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
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
17 GREB1L p.Leu1567Pro VAR_080114
18 GREB1L p.Ala1576Val VAR_080115
19 GREB1L p.Val1615Ile VAR_080116
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 32)
# 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 GREB1L NM_001142966.2(GREB1L): c.5378T> G (p.Leu1793Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 19098101: 19098101
4 GREB1L NM_001142966.2(GREB1L): c.5378T> G (p.Leu1793Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 21518140: 21518140
5 GREB1L NM_001142966.2(GREB1L): c.5608+1delG deletion Pathogenic GRCh37 Chromosome 18, 19100785: 19100785
6 GREB1L NM_001142966.2(GREB1L): c.5608+1delG deletion Pathogenic GRCh38 Chromosome 18, 21520824: 21520824
7 GREB1L NM_001142966.2(GREB1L): c.3998_3999insC (p.Leu1334Profs) insertion Pathogenic GRCh38 Chromosome 18, 21500568: 21500569
8 GREB1L NM_001142966.2(GREB1L): c.3998_3999insC (p.Leu1334Profs) insertion Pathogenic GRCh37 Chromosome 18, 19080529: 19080530
9 GREB1L NM_001142966.2(GREB1L): c.4680C> A (p.Tyr1560Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 21508536: 21508536
10 GREB1L NM_001142966.2(GREB1L): c.4680C> A (p.Tyr1560Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 19088497: 19088497
11 GREB1L NM_001142966.2(GREB1L): c.4700T> C (p.Leu1567Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 21508556: 21508556
12 GREB1L NM_001142966.2(GREB1L): c.4700T> C (p.Leu1567Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 19088517: 19088517
13 GREB1L NM_001142966.2(GREB1L): c.5068G> A (p.Val1690Met) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 19095544: 19095544
14 GREB1L NM_001142966.2(GREB1L): c.5068G> A (p.Val1690Met) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 21515583: 21515583
15 GREB1L NM_001142966.2(GREB1L): c.3295C> T (p.Gln1099Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 19076563: 19076563
16 GREB1L NM_001142966.2(GREB1L): c.3295C> T (p.Gln1099Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 21496602: 21496602
17 GREB1L NM_001142966.2(GREB1L): c.1582delC (p.Gln528Argfs) deletion Pathogenic GRCh37 Chromosome 18, 19029659: 19029659
18 GREB1L NM_001142966.2(GREB1L): c.1582delC (p.Gln528Argfs) deletion Pathogenic GRCh38 Chromosome 18, 21449698: 21449698
19 GREB1L NM_001142966.2(GREB1L): c.4369-1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 18, 19088078: 19088078
20 GREB1L NM_001142966.2(GREB1L): c.4369-1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 18, 21508117: 21508117
21 GREB1L NM_001142966.2(GREB1L): c.1780G> T (p.Glu594Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 21451082: 21451082
22 GREB1L NM_001142966.2(GREB1L): c.1780G> T (p.Glu594Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 19031043: 19031043
23 GREB1L NM_001142966.2(GREB1L): c.4607A> G (p.His1536Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 21508463: 21508463
24 GREB1L NM_001142966.2(GREB1L): c.4607A> G (p.His1536Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 19088424: 19088424
25 GREB1L NM_001142966.2(GREB1L): c.2251C> T (p.Arg751Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 21473099: 21473099
26 GREB1L NM_001142966.2(GREB1L): c.2251C> T (p.Arg751Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 19053060: 19053060
27 GREB1L NM_001142966.2(GREB1L): c.983G> A (p.Arg328Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 21440302: 21440302
28 GREB1L NM_001142966.2(GREB1L): c.983G> A (p.Arg328Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 19020263: 19020263
29 FREM2 NM_207361.5(FREM2): c.6727C> T (p.Arg2243Ter) single nucleotide variant Pathogenic rs767978562 GRCh37 Chromosome 13, 39425230: 39425230
30 FREM2 NM_207361.5(FREM2): c.6727C> T (p.Arg2243Ter) single nucleotide variant Pathogenic rs767978562 GRCh38 Chromosome 13, 38851093: 38851093
31 ERI1 NM_153332.3(ERI1): c.627delA (p.Val210Terfs) deletion Likely pathogenic GRCh38 Chromosome 8, 9018341: 9018341
32 ERI1 NM_153332.3(ERI1): c.627delA (p.Val210Terfs) deletion Likely pathogenic GRCh37 Chromosome 8, 8875851: 8875851

Expression for Renal Hypodysplasia/aplasia 3

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

Pathways for Renal Hypodysplasia/aplasia 3

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

# Super pathways Score Top Affiliating Genes
1 10.44 FGFR3 RET

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 negative regulation of apoptotic process GO:0043066 9.71 BMP4 DSTYK FGFR3 RET
2 embryonic digit morphogenesis GO:0042733 9.52 BMP4 FREM2
3 embryonic limb morphogenesis GO:0030326 9.51 BMP4 FRAS1
4 peptidyl-tyrosine phosphorylation GO:0018108 9.5 DSTYK FGFR3 RET
5 branching involved in ureteric bud morphogenesis GO:0001658 9.49 BMP4 GREB1L
6 ureteric bud development GO:0001657 9.48 BMP4 RET
7 chondrocyte differentiation GO:0002062 9.46 BMP4 FGFR3
8 metanephros development GO:0001656 9.43 BMP4 GREB1L
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 9.26 BMP4 DSTYK FGFR3 RET
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
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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44 MeSH
45 MESH via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
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