RHDA3
MCID: RNL122
MIFTS: 45

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 72 29 6 17
Renal Agenesis, Unilateral 58 32
Rhda3 57 72
Unilateral Renal Agenesis 6

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
highly variable phenotype
onset in utero
death in utero or in the perinatal period may occur

Inheritance:
autosomal dominant


HPO:

31
renal hypodysplasia/aplasia 3:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance congenital onset


Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 617805
OMIM Phenotypic Series 57 PS191830
MeSH 44 D007674
ICD10 32 Q60.0
ICD10 via Orphanet 33 Q60.0
UMLS via Orphanet 71 C0266294
Orphanet 58 ORPHA93100

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, including uterovaginal and ovarian agenesis. 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, Sanna-Cherchi et al., 2017, and Herlin et al., 2019). For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (191830). (617805) (Updated 20-May-2021)

MalaCards based summary : Renal Hypodysplasia/aplasia 3, also known as renal agenesis, unilateral, is related to congenital anomalies of kidney and urinary tract 1 and renal agenesis, bilateral. An important gene associated with Renal Hypodysplasia/aplasia 3 is GREB1L (GREB1 Like Retinoic Acid Receptor Coactivator), and among its related pathways/superpathways are Phospholipase-C Pathway and ECM-receptor interaction. Affiliated tissues include kidney, uterus and thyroid, and related phenotypes are vesicoureteral reflux and hydronephrosis

UniProtKB/Swiss-Prot : 72 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 166)
# Related Disease Score Top Affiliating Genes
1 congenital anomalies of kidney and urinary tract 1 30.1 UPK3A DSTYK
2 renal agenesis, bilateral 30.0 RET GREB1L
3 congenital anomalies of kidney and urinary tract 2 30.0 UPK3A DSTYK BMP4
4 anus, imperforate 29.8 FREM2 FRAS1 DSTYK
5 fraser syndrome 1 29.7 FREM2 FREM1 FRAS1
6 diaphragmatic hernia, congenital 29.5 FREM2 FREM1 FRAS1 BMP4
7 vesicoureteral reflux 1 29.3 UPK3A RET FREM2 FRAS1 DSTYK BMP4
8 cakut 28.6 UPK3A RET GREB1L FREM2 FREM1 FRAS1
9 renal hypodysplasia/aplasia 1 28.3 UPK3A TMCO1 RET GREB1L FREM2 FREM1
10 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 11.6
11 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 11.4
12 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs 11.4
13 mayer-rokitansky-kuster-hauser syndrome 11.3
14 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 11.3
15 santos mateus leal syndrome 11.2
16 ellis yale winter syndrome 11.2
17 kallmann syndrome 11.2
18 ritscher-schinzel syndrome 1 11.1
19 neurofaciodigitorenal syndrome 11.1
20 sacral defect with anterior meningocele 11.1
21 renal hypodysplasia/aplasia 2 11.1
22 neurofacioskeletal syndrome with or without renal agenesis 11.1
23 proteinuria, chronic benign 10.4
24 renal dysplasia 10.3
25 urinary tract infection 10.3
26 kidney disease 10.3
27 unilateral aplasia of the mullerian ducts 10.3
28 hydronephrosis 10.3
29 bicornuate uterus 10.2
30 uterine anomalies 10.2
31 urolithiasis 10.2
32 endometriosis 10.2
33 anuria 10.2
34 congenital symblepharon 10.2 FREM2 FRAS1
35 zygodactyly 1 10.1 FREM2 FRAS1
36 synovial chondromatosis 10.1 FGFR3 BMP4
37 thyroid carcinoma, familial medullary 10.1
38 multiple endocrine neoplasia, type iia 10.1
39 ureterocele 10.1
40 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 10.1
41 polydactyly 10.1
42 scoliosis 10.1
43 inguinal hernia 10.1
44 bladder exstrophy 10.1
45 klippel-feil syndrome 10.1
46 pre-eclampsia 10.1
47 microcephaly 10.1
48 respiratory failure 10.1
49 nephrotic syndrome 10.1
50 hyperuricemia 10.1

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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux 31 very rare (1%) HP:0000076
2 hydronephrosis 31 very rare (1%) HP:0000126
3 horseshoe kidney 31 HP:0000085
4 abnormality of the uterus 31 HP:0000130
5 multicystic kidney dysplasia 31 HP:0000003
6 renal agenesis 31 HP:0000104
7 renal dysplasia 31 HP:0000110

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
horseshoe kidney
ectopic 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)
ureteral agenesis (in some patients)

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

Clinical features from OMIM®:

617805 (Updated 20-May-2021)

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-10 9.7 FGFR3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.7 FREM1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.7 FGFR3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.7 FGFR3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.7 FREM1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.7 RET
7 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.7 DSTYK
8 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.7 RET
9 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.7 DSTYK
10 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.7 FREM1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.7 RET
12 Increased shRNA abundance (Z-score > 2) GR00366-A-28 9.7 RET
13 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.7 FREM1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.7 FGFR3 RET
15 Increased shRNA abundance (Z-score > 2) GR00366-A-55 9.7 DSTYK
16 Increased shRNA abundance (Z-score > 2) GR00366-A-59 9.7 FGFR3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.7 FGFR3 RET
18 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.7 FGFR3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.7 RET
20 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.7 DSTYK FGFR3 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 10.09 BMP4 ERI1 FGFR3 FRAS1 FREM1 FREM2
2 craniofacial MP:0005382 10.02 BMP4 FGFR3 FRAS1 FREM1 FREM2 GREB1L
3 mortality/aging MP:0010768 10.02 BMP4 ERI1 FGFR3 FRAS1 FREM1 FREM2
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 9.76 BMP4 FGFR3 FRAS1 FREM1 FREM2 GREB1L
8 no phenotypic analysis MP:0003012 9.65 BMP4 ERI1 FGFR3 FRAS1 RET
9 reproductive system MP:0005389 9.5 BMP4 FGFR3 FREM1 FREM2 GREB1L RET
10 respiratory system MP:0005388 9.17 BMP4 FGFR3 FRAS1 FREM1 FREM2 GREB1L

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

Anatomical Context for Renal Hypodysplasia/aplasia 3

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

40
Kidney, Uterus, Thyroid, Heart, Adrenal Gland

Publications for Renal Hypodysplasia/aplasia 3

Articles related to Renal Hypodysplasia/aplasia 3:

(show all 12)
# Title Authors PMID Year
1
GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome. 6 57
32378186 2020
2
Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report. 6 57
31424080 2019
3
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice. 57 6
29100091 2017
4
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. 6 57
29100090 2017
5
A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans. 57 6
28739660 2017
6
GREB1L as a candidate gene of Mayer-Rokitansky-Küster-Hauser Syndrome. 57
33548512 2021
7
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
8
Unilateral Fetal Renal Abnormalities: Are They Really Isolated? 61
26892819 2016
9
Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature. 61
22302461 2012
10
Obesity, proteinuria and progression of renal failure. 61
16914959 2006
11
[Echography and fetal urinary malformations]. 61
3527036 1986
12
["Teratologic series" and their genetics]. 61
456891 1979

Variations for Renal Hypodysplasia/aplasia 3

ClinVar genetic disease variations for Renal Hypodysplasia/aplasia 3:

6 (show all 39)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GREB1L NM_001142966.2(GREB1L):c.2251C>T (p.Arg751Cys) SNV Pathogenic 453284 rs1555654020 GRCh37: 18:19053060-19053060
GRCh38: 18:21473099-21473099
2 GREB1L NM_001142966.2(GREB1L):c.5378T>G (p.Leu1793Arg) SNV Pathogenic 453273 rs1555664772 GRCh37: 18:19098101-19098101
GRCh38: 18:21518140-21518140
3 GREB1L NM_001142966.2(GREB1L):c.4680C>A (p.Tyr1560Ter) SNV Pathogenic 453276 rs1555662052 GRCh37: 18:19088497-19088497
GRCh38: 18:21508536-21508536
4 GREB1L NM_001142966.2(GREB1L):c.3295C>T (p.Gln1099Ter) SNV Pathogenic 453279 rs1555659101 GRCh37: 18:19076563-19076563
GRCh38: 18:21496602-21496602
5 GREB1L NM_001142966.2(GREB1L):c.1780G>T (p.Glu594Ter) SNV Pathogenic 453282 rs1555650110 GRCh37: 18:19031043-19031043
GRCh38: 18:21451082-21451082
6 GREB1L NM_001142966.2(GREB1L):c.983G>A (p.Arg328Gln) SNV Pathogenic 453285 rs1311814599 GRCh37: 18:19020263-19020263
GRCh38: 18:21440302-21440302
7 GREB1L NM_001142966.2(GREB1L):c.4700T>C (p.Leu1567Pro) SNV Pathogenic 453277 rs1555662061 GRCh37: 18:19088517-19088517
GRCh38: 18:21508556-21508556
8 GREB1L NM_001142966.2(GREB1L):c.1582del (p.Gln528fs) Deletion Pathogenic 453280 rs1555649811 GRCh37: 18:19029657-19029657
GRCh38: 18:21449696-21449696
9 GREB1L NM_001142966.2(GREB1L):c.5608+1del Deletion Pathogenic 453274 rs1555665627 GRCh37: 18:19100784-19100784
GRCh38: 18:21520823-21520823
10 GREB1L NM_001142966.2(GREB1L):c.4607A>G (p.His1536Arg) SNV Pathogenic 453283 rs1555662027 GRCh37: 18:19088424-19088424
GRCh38: 18:21508463-21508463
11 FREM2 NM_207361.6(FREM2):c.6727C>T (p.Arg2243Ter) SNV Pathogenic 523570 rs767978562 GRCh37: 13:39425230-39425230
GRCh38: 13:38851093-38851093
12 overlap with 7 genes GRCh37/hg19 Xp22.13-22.12(chrX:19183657-20215858) copy number gain Pathogenic 997059 GRCh37: X:19183657-20215858
GRCh38:
13 GREB1L NM_001142966.2(GREB1L):c.4369-1G>C SNV Pathogenic 453281 rs1555661907 GRCh37: 18:19088078-19088078
GRCh38: 18:21508117-21508117
14 GREB1L NM_001142966.2(GREB1L):c.4000dup (p.Leu1334fs) Duplication Pathogenic 453275 rs1555660209 GRCh37: 18:19080529-19080530
GRCh38: 18:21500568-21500569
15 TMCO1 NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) SNV Pathogenic 598963 rs765379963 GRCh37: 1:165712409-165712409
GRCh38: 1:165743172-165743172
16 GREB1L NC_000018.10:g.21490106_21490107CG[1] Microsatellite Pathogenic 917901 GRCh37: 18:19070067-19070068
GRCh38: 18:21490106-21490107
17 GREB1L NM_001142966.2(GREB1L):c.2227del (p.Gln743fs) Deletion Pathogenic 917902 GRCh37: 18:19053036-19053036
GRCh38: 18:21473075-21473075
18 GREB1L NM_001142966.2(GREB1L):c.3970-20A>G SNV Pathogenic 917904 GRCh37: 18:19080481-19080481
GRCh38: 18:21500520-21500520
19 GREB1L NM_001142966.3(GREB1L):c.705G>T (p.Trp235Cys) SNV Pathogenic 1064690 GRCh37: 18:18981283-18981283
GRCh38: 18:21401322-21401322
20 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic 16340 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
21 ERI1 NM_153332.4(ERI1):c.627del (p.Lys209_Val210insTer) Deletion Likely pathogenic 586980 rs1563322318 GRCh37: 8:8875845-8875845
GRCh38: 8:9018335-9018335
22 GREB1L NM_001142966.2(GREB1L):c.3970-20A>G SNV Likely pathogenic 917904 GRCh37: 18:19080481-19080481
GRCh38: 18:21500520-21500520
23 GREB1L NM_001142966.3(GREB1L):c.157+1del Deletion Likely pathogenic 982418 GRCh37: 18:18963636-18963636
GRCh38: 18:21383675-21383675
24 GREB1L NM_001142966.2(GREB1L):c.5074G>T (p.Asp1692Tyr) SNV Likely pathogenic 974522 GRCh37: 18:19095550-19095550
GRCh38: 18:21515589-21515589
25 DHX34 NM_014681.6(DHX34):c.1322A>G (p.Asn441Ser) SNV Likely pathogenic 691940 rs549149043 GRCh37: 19:47863274-47863274
GRCh38: 19:47360017-47360017
26 GREB1L NM_001142966.2(GREB1L):c.3194C>T (p.Thr1065Ile) SNV Likely pathogenic 692049 rs1480442865 GRCh37: 18:19076462-19076462
GRCh38: 18:21496501-21496501
27 GREB1L NM_001142966.2(GREB1L):c.5622T>A (p.Cys1874Ter) SNV Likely pathogenic 917711 GRCh37: 18:19102632-19102632
GRCh38: 18:21522671-21522671
28 GREB1L NM_001142966.2(GREB1L):c.5068G>A (p.Val1690Met) SNV Uncertain significance 453278 rs1555663997 GRCh37: 18:19095544-19095544
GRCh38: 18:21515583-21515583
29 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) Duplication Uncertain significance 95305 rs398124211 GRCh37: X:139586488-139586489
GRCh38: X:140504323-140504324
30 GREB1L NM_001142966.3(GREB1L):c.3364A>T (p.Asn1122Tyr) SNV Uncertain significance 1033327 GRCh37: 18:19076632-19076632
GRCh38: 18:21496671-21496671
31 GREB1L NM_001142966.3(GREB1L):c.5650C>T (p.Arg1884Cys) SNV Uncertain significance 1033328 GRCh37: 18:19102660-19102660
GRCh38: 18:21522699-21522699
32 GREB1L NM_001142966.3(GREB1L):c.3176T>C (p.Ile1059Thr) SNV Uncertain significance 989324 GRCh37: 18:19076444-19076444
GRCh38: 18:21496483-21496483
33 GREB1L NM_001142966.2(GREB1L):c.5198A>G (p.Asn1733Ser) SNV Uncertain significance 917903 GRCh37: 18:19096642-19096642
GRCh38: 18:21516681-21516681
34 GREB1L NM_001142966.2(GREB1L):c.2312C>T (p.Pro771Leu) SNV Uncertain significance 917905 GRCh37: 18:19053121-19053121
GRCh38: 18:21473160-21473160
35 GREB1L NM_001142966.2(GREB1L):c.1852G>A (p.Asp618Asn) SNV Uncertain significance 917906 GRCh37: 18:19032046-19032046
GRCh38: 18:21452085-21452085
36 GREB1L NM_001142966.2(GREB1L):c.3983G>A (p.Gly1328Asp) SNV Uncertain significance 917907 GRCh37: 18:19080514-19080514
GRCh38: 18:21500553-21500553
37 GREB1L NM_001142966.2(GREB1L):c.1936T>C (p.Cys646Arg) SNV Uncertain significance 917908 GRCh37: 18:19032130-19032130
GRCh38: 18:21452169-21452169
38 GREB1L NM_001142966.2(GREB1L):c.3492G>T (p.Gly1164=) SNV Uncertain significance 917909 GRCh37: 18:19079790-19079790
GRCh38: 18:21499829-21499829
39 GREB1L NM_001142966.2(GREB1L):c.277G>A (p.Glu93Lys) SNV Uncertain significance 917910 GRCh37: 18:18964286-18964286
GRCh38: 18:21384325-21384325

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

72 (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 rs155565402
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 rs155566202
15 GREB1L p.Val1549Ala VAR_080111
16 GREB1L p.Arg1558Ser VAR_080112 rs104557450
17 GREB1L p.Leu1567Pro VAR_080114 rs155566206
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 rs155566399
23 GREB1L p.Asp1775Asn VAR_080120
24 GREB1L p.Leu1793Arg VAR_080121 rs155566477
25 GREB1L p.Arg1884His VAR_080122 rs137264021

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
Show member pathways
12.25 FREM2 FREM1 FRAS1 FGFR3 BMP4
2
Show member pathways
11.52 FREM2 FREM1 FRAS1
3 9.92 FREM2 FREM1 FRAS1 FGFR3 BMP4

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 FREM2 FREM1 FRAS1

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

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.73 RET GREB1L FREM2 FREM1 FGFR3 BMP4
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.61 FGFR3 DSTYK BMP4
3 peptidyl-tyrosine phosphorylation GO:0018108 9.5 RET FGFR3 DSTYK
4 chondrocyte differentiation GO:0002062 9.48 FGFR3 BMP4
5 ureteric bud development GO:0001657 9.46 RET BMP4
6 endochondral ossification GO:0001958 9.4 FGFR3 BMP4
7 morphogenesis of an epithelium GO:0002009 9.37 FREM2 FRAS1
8 positive regulation of kinase activity GO:0033674 9.33 RET FGFR3 DSTYK
9 cell communication GO:0007154 9.13 FREM2 FREM1 FRAS1
10 kidney development GO:0001822 8.92 UPK3A GREB1L FREM2 BMP4

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

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 8.8 RET FGFR3 DSTYK

Sources for Renal Hypodysplasia/aplasia 3

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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