RHDA1
MCID: RNL100
MIFTS: 58

Renal Hypodysplasia/aplasia 1 (RHDA1)

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

Aliases & Classifications for Renal Hypodysplasia/aplasia 1

MalaCards integrated aliases for Renal Hypodysplasia/aplasia 1:

Name: Renal Hypodysplasia/aplasia 1 58 76
Renal Agenesis 58 12 77 54 60 76 56 6 15
Renal Adysplasia 58 12 76 30 13 6 74
Renal Aplasia 58 12 76
Hereditary Renal Aplasia 58 12
Rhda1 58 76
Congenital Absence of Kidneys Syndrome 74
Hypodysplasia/aplasia, Renal, Type 1 41
Hereditary Urogenital Adysplasia 12
Hereditary Renal Aplasia; Hra 58
Hra 58

Characteristics:

Orphanet epidemiological data:

60
renal agenesis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death in utero or in the perinatal period


HPO:

33
renal hypodysplasia/aplasia 1:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:14766
OMIM 58 191830
ICD10 via Orphanet 35 Q60.0 Q60.1 Q60.2
UMLS via Orphanet 75 C0542519 C1609433 C1619700
Orphanet 60 ORPHA411709

Summaries for Renal Hypodysplasia/aplasia 1

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 411709Disease definitionRenal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively; see these terms), accompanied by absent ureter(s).EpidemiologyThe annual incidence of RA is estimated at around 1/2,000. Fetal prevalence of bilateral renal agenesis in Europe has been estimated at 1/8,500.Clinical descriptionMost patients with unilateral RA are asymptomatic if the other kidney is fully functional and the disease is commonly detected as a chance observation. However, hypertension, proteinuria and renal failure may develop in the long run (20-50% of cases at the age of 30). Unilateral RA is occasionally associated with genital tract anomalies on the same side (e.g. seminal vesicle hypoplasia and absence of the vas deferens), cardiac anomalies (such as atrial or ventricular septal defects) and/or gastrointestinal anomalies (such as anal atresia). Bilateral RA is characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.EtiologyRenal agenesis results from a developmental failure of the ureteric bud and the metanephric mesenchyme. Unilateral renal agenesis can be caused by mutations in many genes, such as RET (10q11.2), BMP4 (14q22-q23), FRAS1 (4q21.21), FREM1 (9p22.3), or UPK3A (22q13.31). A few cases of bilateral renal agenesis have been found to be caused by mutations in the RET, FGF20 (8p22) or ITGA8 (10p13) genes. Maternal diabetes mellitus or use of specific drugs during pregnancy can also result in renal agenesis.Genetic counselingIn familial cases, unilateral RA is inherited in an autosomal dominant manner with incomplete penetrance. Bilateral RA is inherited autosomal recessively.Visit the Orphanet disease page for more resources.

MalaCards based summary : Renal Hypodysplasia/aplasia 1, also known as renal agenesis, is related to renal agenesis, bilateral and fraser syndrome 1. An important gene associated with Renal Hypodysplasia/aplasia 1 is ITGA8 (Integrin Subunit Alpha 8). The drugs Calcium and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and thyroid, and related phenotypes are hypertelorism and low-set ears

Disease Ontology : 12 A renal disease that is characterized by the failure of one or both kidneys to develop.

OMIM : 58 Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; 610805), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014). (191830)

UniProtKB/Swiss-Prot : 76 Renal hypodysplasia/aplasia 1: A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy.

Wikipedia : 77 Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail... more...

Related Diseases for Renal Hypodysplasia/aplasia 1

Diseases in the Renal Hypodysplasia/aplasia 1 family:

Renal Hypodysplasia/aplasia 2 Renal Hypodysplasia/aplasia 3

Diseases related to Renal Hypodysplasia/aplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 310)
# Related Disease Score Top Affiliating Genes
1 renal agenesis, bilateral 33.8 GREB1L ITGA8 RET
2 fraser syndrome 1 32.0 FRAS1 FREM1 FREM2 FREM3 GRIP1 ITGA8
3 bilateral renal aplasia 32.0 ITGA8 PAX2
4 oligomeganephronia 31.7 GDNF PAX2 RET
5 renal hypoplasia 31.3 EYA1 FREM2 PAX2 SIX2
6 renal hypodysplasia/aplasia 3 31.3 DSTYK FRAS1 FREM1 FREM2 GREB1L RET
7 papillorenal syndrome 30.8 EYA1 PAX2
8 renal dysplasia 30.4 GDNF PAX2 SALL1
9 cryptophthalmos 30.1 FRAS1 FREM1 FREM2 GRIP1
10 anus, imperforate 29.9 DSTYK GREB1L SALL1
11 chromosome 2q35 duplication syndrome 29.8 FRAS1 FREM2 GRIP1
12 diaphragmatic hernia, congenital 29.8 FRAS1 FREM1 FREM2
13 branchiootorenal syndrome 29.5 EYA1 PAX2 SALL1 SIX1
14 cakut 29.3 EYA1 FRAS1 FREM2 GDNF PAX2 RET
15 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 12.5
16 aniridia renal agenesis psychomotor retardation 12.4
17 jejunal atresia with renal adysplasia 12.3
18 renal adysplasia dominant type 12.2
19 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 12.1
20 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 12.1
21 hirschsprung disease with polydactyly, renal agenesis, and deafness 12.1
22 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs 12.1
23 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 12.1
24 bilateral renal agenesis dominant type 12.1
25 double uterus-hemivagina-renal agenesis 12.1
26 renal agenesis meningomyelocele mullerian defect 12.1
27 bifid nose with or without anorectal and renal anomalies 11.9
28 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 11.8
29 potter's syndrome 11.7
30 costello syndrome 11.7
31 murcs association 11.6
32 nevus, epidermal 11.5
33 congenital anomalies of kidney and urinary tract 2 11.5
34 santos mateus leal syndrome 11.4
35 kallmann syndrome 11.4
36 urogenital adysplasia 11.3
37 renal hypodysplasia/aplasia 2 11.1
38 holzgreve syndrome 11.1
39 billet bear syndrome 11.1
40 ellis yale winter syndrome 11.1
41 acrorenal-mandibular syndrome 11.0
42 ritscher-schinzel syndrome 1 11.0
43 neurofaciodigitorenal syndrome 11.0
44 short-rib thoracic dysplasia 3 with or without polydactyly 11.0
45 fraser syndrome 2 11.0
46 fraser syndrome 3 11.0
47 congenital anomalies of kidney and urinary tract 3 11.0
48 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 11.0
49 kidney disease 11.0
50 renal hypoplasia, unilateral 10.5

Graphical network of the top 20 diseases related to Renal Hypodysplasia/aplasia 1:



Diseases related to Renal Hypodysplasia/aplasia 1

Symptoms & Phenotypes for Renal Hypodysplasia/aplasia 1

Human phenotypes related to Renal Hypodysplasia/aplasia 1:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 low-set ears 33 HP:0000369
3 hypertension 33 HP:0000822
4 proteinuria 33 HP:0000093
5 retrognathia 33 HP:0000278
6 primary amenorrhea 33 HP:0000786
7 talipes equinovarus 33 HP:0001762
8 oligohydramnios 33 HP:0001562
9 pulmonary hypoplasia 33 HP:0002089
10 renal agenesis 33 HP:0000104
11 bicornuate uterus 33 HP:0000813
12 renal dysplasia 33 HP:0000110
13 vaginal atresia 33 HP:0000148
14 potter facies 33 HP:0002009

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
talipes equinovarus
club feet

Genitourinary Kidneys:
renal agenesis
renal dysplasia
renal adysplasia

Skeletal Hands:
spade-like hands

Head And Neck Ears:
large, low-set ears
ears deficient in cartilage

Genitourinary Ureters:
ureteral aplasia

Prenatal Manifestations Amniotic Fluid:
oligohydramnios
anhydramnios

Head And Neck Face:
potter facies
flattened nose
receding chin

Respiratory Lung:
lung hypoplasia

Head And Neck Eyes:
wide-set eyes

Genitourinary Bladder:
bladder hypoplasia
bladder abnormalities

Clinical features from OMIM:

191830

MGI Mouse Phenotypes related to Renal Hypodysplasia/aplasia 1:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.31 CFTR EYA1 FRAS1 FREM1 FREM2 GDNF
2 cardiovascular system MP:0005385 10.29 EYA1 FRAS1 FREM2 GDNF GREB1L GRIP1
3 growth/size/body region MP:0005378 10.29 CFTR EYA1 FRAS1 FREM1 FREM2 GDNF
4 digestive/alimentary MP:0005381 10.22 CFTR EYA1 FRAS1 FREM1 GDNF GREB1L
5 nervous system MP:0003631 10.21 DSTYK EYA1 FREM1 FREM2 GDNF GREB1L
6 renal/urinary system MP:0005367 10.17 EYA1 FRAS1 FREM1 FREM2 GDNF GREB1L
7 endocrine/exocrine gland MP:0005379 10.15 CFTR EYA1 FREM1 GDNF GREB1L HS2ST1
8 craniofacial MP:0005382 10.14 CFTR EYA1 FRAS1 FREM1 FREM2 HS2ST1
9 embryo MP:0005380 10.11 EYA1 FREM2 GREB1L GRIP1 PAX2 RET
10 limbs/digits/tail MP:0005371 10.03 FRAS1 FREM1 FREM2 GRIP1 HS2ST1 RET
11 hearing/vestibular/ear MP:0005377 9.93 EYA1 FREM2 ITGA8 PAX2 SALL1 SIX1
12 reproductive system MP:0005389 9.86 CFTR EYA1 FREM1 FREM2 GDNF GREB1L
13 respiratory system MP:0005388 9.81 CFTR EYA1 FRAS1 FREM1 FREM2 GREB1L
14 skeleton MP:0005390 9.61 EYA1 FRAS1 FREM1 FREM2 HS2ST1 ITGA8
15 vision/eye MP:0005391 9.28 CFTR EYA1 FRAS1 FREM1 FREM2 GRIP1

Drugs & Therapeutics for Renal Hypodysplasia/aplasia 1

Drugs for Renal Hypodysplasia/aplasia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
2 Calcium, Dietary Phase 1
3 Pharmaceutical Solutions Phase 1,Not Applicable
4 Hormones Phase 1
5 Anesthetics Not Applicable
6 Anesthetics, Local Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Serial Amnioinfusions as Regenerative Therapy for Pulmonary Hypoplasia Recruiting NCT03723564 Phase 1 Lactated Ringers Solution for Injection
2 Renal Anhydramnios Fetal Therapy Recruiting NCT03101891 Not Applicable Isotonic fluid
3 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Renal Hypodysplasia/aplasia 1

Genetic Tests for Renal Hypodysplasia/aplasia 1

Genetic tests related to Renal Hypodysplasia/aplasia 1:

# Genetic test Affiliating Genes
1 Renal Adysplasia 30 ITGA8

Anatomical Context for Renal Hypodysplasia/aplasia 1

MalaCards organs/tissues related to Renal Hypodysplasia/aplasia 1:

42
Kidney, Uterus, Thyroid, Heart, Testis, Eye, Prostate

Publications for Renal Hypodysplasia/aplasia 1

Articles related to Renal Hypodysplasia/aplasia 1:

(show top 50) (show all 628)
# Title Authors Year
1
Unilateral renal agenesis as an early marker for genetic screening in Kallmann syndrome. ( 30255480 )
2019
2
Unilateral renal agenesis and abrupt onset diabetes: an unfrequent form of MODY type diabetes. ( 29525113 )
2019
3
Rare urogenital anomaly variant with a separated didelphic uterus and ipsilateral renal agenesis without hemivagina: A case report. ( 29845695 )
2019
4
The clinical characteristics of Chinese patients with unilateral renal agenesis. ( 30734167 )
2019
5
Unilateral Renal Agenesis Diagnosed on Early Prenatal Trans-Vaginal Scans. ( 30772957 )
2019
6
Zinner and Mayer-Rokitansky-Küster-Hauser syndromes: when unilateral renal agenesis meets genital anomalies. ( 31061196 )
2019
7
Update on the Prenatal Diagnosis and Outcomes of Fetal Bilateral Renal Agenesis. ( 31098643 )
2019
8
A rare presentation of acute appendicitis in right upper quadrant caused by renal agenesis. ( 29732138 )
2018
9
Myelomeningocele with Unilateral Right Renal Agenesis: A Case Report. ( 29321944 )
2018
10
Complete dorsal pancreatic agenesis and unilateral renal agenesis. ( 29487639 )
2018
11
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
12
Congenital Unilateral Fallopian Tube and Renal Agenesis in a Patient with Primary Infertility. ( 28390944 )
2018
13
An unusual presentation of urethral duplication presenting with chronic bladder retention, left scrotal transposition and left renal agenesis. ( 29064654 )
2018
14
Ethical Considerations Concerning Amnioinfusions for Treating Fetal Bilateral Renal Agenesis. ( 29215523 )
2018
15
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. ( 29261186 )
2018
16
Screening for Mullerian anomalies in patients with unilateral renal agenesis: Leveraging early detection to prevent complications. ( 29459133 )
2018
17
Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis. ( 29704304 )
2018
18
Massive seminal vesicle cyst with ipsilateral renal agenesis - Zinner syndrome in a Saudi patient. ( 30089996 )
2018
19
Diagnosis and Treatment in a Tertiary Hospital of a Series of Complex Genital Malformations Corresponding to Double Uterus with Obstructed Hemivagina and Ipsilateral Renal Agenesis. ( 30631773 )
2018
20
Long-term follow up of a boy with unilateral autosomal dominant polycystic kidney disease and contralateral renal agenesis. ( 29291365 )
2017
21
Unilateral renal agenesis with subseptate uterus and sacrococcygeal teratoma: A unique triad. ( 29089677 )
2017
22
Ipsilateral Renal Agenesis With Megaureter, Blind End Proximal Ureter And Ureterocele In An Adult. ( 28712197 )
2017
23
Multicystic seminal vesicle with ipsilateral renal agenesis: two cases of Zinner syndrome. ( 27905212 )
2017
24
Evidence-based, ethically justified counseling for fetal bilateral renal agenesis. ( 28222038 )
2017
25
Does the serum uric acid level have any relation to arterial stiffness or blood pressure in adults with congenital renal agenesis and/or hypoplasia? ( 28287880 )
2017
26
Association of Unilateral Renal Agenesis With Adverse Outcomes in Pregnancy: A Matched Cohort Study. ( 28396109 )
2017
27
Minimally Invasive Approach for Treatment of Seminal Vesicle Cyst Associated with Ipsilateral Renal Agenesis. ( 28407634 )
2017
28
Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis. ( 28618409 )
2017
29
Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries. ( 28722320 )
2017
30
A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans. ( 28739660 )
2017
31
Unique Association of Multiple Seminal Vesicle Cysts with Contralateral Renal Agenesis: A Rare Variant of Zinner Syndrome. ( 28875088 )
2017
32
Framing the conversation for exploring innovative techniques in therapy: the example of bilateral renal agenesis. ( 29108145 )
2017
33
A Singleton Infant with Bilateral Renal Agenesis and Normal Pulmonary Function. ( 29279782 )
2017
34
Non-diethylstilbestrol exposed vaginal adenocarcinoma in young patients associated with unilateral renal agenesis: two case reports and literature review. ( 29767889 )
2017
35
Complete septate uterus with obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) in a young woman-a rare variant of Herlyn-Werner-Wunderlich syndrome. ( 30363628 )
2016
36
Pseudo-Exstrophy of Bladder with Unilateral Renal Agenesis: A Rare Combination of two Anomalies. ( 28208931 )
2016
37
Heterozygous p.S811F RET gene mutation associated with renal agenesis, oligomeganephronia and total colonic aganglionosis: a case report. ( 27717313 )
2016
38
Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report. ( 27036947 )
2016
39
The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients. ( 27480277 )
2016
40
Robot-assisted excision of seminal vesicle cyst associated with ipsilateral renal agenesis. ( 26766807 )
2016
41
Cloacal dysgenesis sequence with bilateral renal agenesis and normal pulmonary development in twin pregnancy. ( 26791133 )
2016
42
Unilateral Blind Ending Ureter with Vesicoureteral Reflux and Associated Renal Agenesis -Multidetector Computed Tomography Imaging Findings. ( 27085570 )
2016
43
MURCS (Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia): a rare cause of primary amenorrhoea. ( 27099773 )
2016
44
Renal Agenesis with Full Length Ipsilateral Refluxing Ureter. ( 27170916 )
2016
45
Unilateral Renal Agenesis: Necessity of Postnatal Evaluation in a Contemporary Series. ( 27421781 )
2016
46
Complex malformations of the urogenital tract in a female dog: Gartner duct cyst, ipsilateral renal agenesis, and ipsilateral hydrometra. ( 27506089 )
2016
47
Retrocaval ureter and contra lateral renal agenesis - a case report and review of literature. ( 27564299 )
2016
48
A Case of Cryptorchidism with Ipsilateral Congenital Unilateral Absence of the Vas Deferens and Contralateral Renal Agenesis. ( 27597925 )
2016
49
Pelvic cystic mass and ipsilateral renal agenesis detected by ultrasound in a young girl: early onset of Herlyn-Werner-Wunderlich Syndrome. ( 27622422 )
2016
50
Endometrial Carcinoma Arising in Didelphic Uterus Accompanied by Right Renal Agenesis: A Case Report. ( 27733230 )
2016

Variations for Renal Hypodysplasia/aplasia 1

UniProtKB/Swiss-Prot genetic disease variations for Renal Hypodysplasia/aplasia 1:

76
# Symbol AA change Variation ID SNP ID
1 ITGA8 p.Gly407Arg VAR_071107 rs374664941

ClinVar genetic disease variations for Renal Hypodysplasia/aplasia 1:

6 (show top 50) (show all 252)
# Gene Variation Type Significance SNP ID Assembly Location
1 UPK3A NM_006953.3(UPK3A): c.*107T> C single nucleotide variant Uncertain significance rs558490093 GRCh37 Chromosome 22, 45691707: 45691707
2 UPK3A NM_006953.3(UPK3A): c.*107T> C single nucleotide variant Uncertain significance rs558490093 GRCh38 Chromosome 22, 45295826: 45295826
3 RET NM_020630.5(RET): c.2372A> T (p.Tyr791Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs77724903 GRCh37 Chromosome 10, 43613908: 43613908
4 RET NM_020630.5(RET): c.2372A> T (p.Tyr791Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs77724903 GRCh38 Chromosome 10, 43118460: 43118460
5 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh37 Chromosome 10, 43620335: 43620335
6 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh38 Chromosome 10, 43124887: 43124887
7 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
8 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 GRCh38 Chromosome 10, 43119548: 43119548
9 RET NM_020975.5(RET): c.*1969T> C single nucleotide variant protective rs3026785 GRCh37 Chromosome 10, 43625686: 43625686
10 RET NM_020975.5(RET): c.*1969T> C single nucleotide variant protective rs3026785 GRCh38 Chromosome 10, 43130238: 43130238
11 RET NM_020975.4(RET): c.2332G> A (p.Val778Ile) single nucleotide variant Uncertain significance rs75686697 GRCh37 Chromosome 10, 43613868: 43613868
12 RET NM_020975.4(RET): c.2332G> A (p.Val778Ile) single nucleotide variant Uncertain significance rs75686697 GRCh38 Chromosome 10, 43118420: 43118420
13 RET NM_020975.4(RET): c.592C> A (p.Pro198Thr) single nucleotide variant Uncertain significance rs76736111 GRCh37 Chromosome 10, 43598044: 43598044
14 RET NM_020975.4(RET): c.592C> A (p.Pro198Thr) single nucleotide variant Uncertain significance rs76736111 GRCh38 Chromosome 10, 43102596: 43102596
15 RET NM_020630.5(RET): c.874G> A (p.Val292Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34682185 GRCh37 Chromosome 10, 43601830: 43601830
16 RET NM_020630.5(RET): c.874G> A (p.Val292Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34682185 GRCh38 Chromosome 10, 43106382: 43106382
17 RET NM_020975.4(RET): c.1760-12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs377767392 GRCh37 Chromosome 10, 43608992: 43608992
18 RET NM_020975.4(RET): c.1760-12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs377767392 GRCh38 Chromosome 10, 43113544: 43113544
19 RET NM_020975.4(RET): c.2071G> A (p.Gly691Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs1799939 GRCh37 Chromosome 10, 43610119: 43610119
20 RET NM_020975.4(RET): c.2071G> A (p.Gly691Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs1799939 GRCh38 Chromosome 10, 43114671: 43114671
21 RET NM_020975.4(RET): c.2508C> T (p.Ser836=) single nucleotide variant Benign/Likely benign rs1800862 GRCh37 Chromosome 10, 43615094: 43615094
22 RET NM_020975.4(RET): c.2508C> T (p.Ser836=) single nucleotide variant Benign/Likely benign rs1800862 GRCh38 Chromosome 10, 43119646: 43119646
23 RET NM_020975.4(RET): c.2712C> G (p.Ser904=) single nucleotide variant Benign/Likely benign rs1800863 GRCh37 Chromosome 10, 43615633: 43615633
24 RET NM_020975.4(RET): c.2712C> G (p.Ser904=) single nucleotide variant Benign/Likely benign rs1800863 GRCh38 Chromosome 10, 43120185: 43120185
25 RET NM_020630.4(RET): c.200G> A (p.Arg67His) single nucleotide variant Conflicting interpretations of pathogenicity rs192489011 GRCh37 Chromosome 10, 43596033: 43596033
26 RET NM_020630.4(RET): c.200G> A (p.Arg67His) single nucleotide variant Conflicting interpretations of pathogenicity rs192489011 GRCh38 Chromosome 10, 43100585: 43100585
27 RET NM_020630.5(RET): c.2611G> A (p.Val871Ile) single nucleotide variant Uncertain significance rs145170911 GRCh37 Chromosome 10, 43615532: 43615532
28 RET NM_020630.5(RET): c.2611G> A (p.Val871Ile) single nucleotide variant Uncertain significance rs145170911 GRCh38 Chromosome 10, 43120084: 43120084
29 SOX3 NM_005634.2(SOX3): c.735_737dupCGC (p.Ala248_Ser249insAla) duplication Uncertain significance rs398124211 GRCh37 Chromosome X, 139586489: 139586491
30 SOX3 NM_005634.2(SOX3): c.735_737dupCGC (p.Ala248_Ser249insAla) duplication Uncertain significance rs398124211 GRCh38 Chromosome X, 140504324: 140504326
31 RET NM_020975.4(RET): c.1296A> G (p.Ala432=) single nucleotide variant Benign rs1800860 GRCh37 Chromosome 10, 43606687: 43606687
32 RET NM_020975.4(RET): c.1296A> G (p.Ala432=) single nucleotide variant Benign rs1800860 GRCh38 Chromosome 10, 43111239: 43111239
33 RET NM_020975.4(RET): c.337+9G> A single nucleotide variant Benign/Likely benign rs2435351 GRCh37 Chromosome 10, 43596179: 43596179
34 RET NM_020975.4(RET): c.337+9G> A single nucleotide variant Benign/Likely benign rs2435351 GRCh38 Chromosome 10, 43100731: 43100731
35 RET NM_020975.6(RET): c.375C> A (p.Val125=) single nucleotide variant Benign/Likely benign rs1800859 GRCh37 Chromosome 10, 43597827: 43597827
36 RET NM_020975.6(RET): c.375C> A (p.Val125=) single nucleotide variant Benign/Likely benign rs1800859 GRCh38 Chromosome 10, 43102379: 43102379
37 ITGA8 NM_003638.2(ITGA8): c.2982+2T> C single nucleotide variant Pathogenic rs587777279 GRCh37 Chromosome 10, 15573047: 15573047
38 ITGA8 NM_003638.2(ITGA8): c.2982+2T> C single nucleotide variant Pathogenic rs587777279 GRCh38 Chromosome 10, 15531048: 15531048
39 ITGA8 NM_003638.2(ITGA8): c.1622_1626del (p.Glu541Alafs) deletion Pathogenic rs587777280 GRCh37 Chromosome 10, 15649814: 15649818
40 ITGA8 NM_003638.2(ITGA8): c.1622_1626del (p.Glu541Alafs) deletion Pathogenic rs587777280 GRCh38 Chromosome 10, 15607815: 15607819
41 ITGA8 NM_003638.2(ITGA8): c.1219G> A (p.Gly407Arg) single nucleotide variant Pathogenic rs374664941 GRCh37 Chromosome 10, 15686209: 15686209
42 ITGA8 NM_003638.2(ITGA8): c.1219G> A (p.Gly407Arg) single nucleotide variant Pathogenic rs374664941 GRCh38 Chromosome 10, 15644210: 15644210
43 RET NM_020975.4(RET): c.1264-5C> T single nucleotide variant Benign/Likely benign rs9282835 GRCh37 Chromosome 10, 43606650: 43606650
44 RET NM_020975.4(RET): c.1264-5C> T single nucleotide variant Benign/Likely benign rs9282835 GRCh38 Chromosome 10, 43111202: 43111202
45 RET NM_020975.4(RET): c.2976G> A (p.Pro992=) single nucleotide variant Benign/Likely benign rs528823385 GRCh37 Chromosome 10, 43620367: 43620367
46 RET NM_020975.4(RET): c.2976G> A (p.Pro992=) single nucleotide variant Benign/Likely benign rs528823385 GRCh38 Chromosome 10, 43124919: 43124919
47 RET NM_020975.4(RET): c.1336G> C (p.Gly446Arg) single nucleotide variant Benign/Likely benign rs115423919 GRCh38 Chromosome 10, 43111279: 43111279
48 RET NM_020975.4(RET): c.1336G> C (p.Gly446Arg) single nucleotide variant Benign/Likely benign rs115423919 GRCh37 Chromosome 10, 43606727: 43606727
49 RET NM_020975.4(RET): c.2037C> T (p.Pro679=) single nucleotide variant Benign/Likely benign rs55862116 GRCh37 Chromosome 10, 43610085: 43610085
50 RET NM_020975.4(RET): c.2037C> T (p.Pro679=) single nucleotide variant Benign/Likely benign rs55862116 GRCh38 Chromosome 10, 43114637: 43114637

Expression for Renal Hypodysplasia/aplasia 1

Search GEO for disease gene expression data for Renal Hypodysplasia/aplasia 1.

Pathways for Renal Hypodysplasia/aplasia 1

GO Terms for Renal Hypodysplasia/aplasia 1

Cellular components related to Renal Hypodysplasia/aplasia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.92 FRAS1 FREM1 FREM2 FREM3

Biological processes related to Renal Hypodysplasia/aplasia 1 according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.94 DSTYK GDNF PAX2 SIX1
2 embryonic skeletal system morphogenesis GO:0048704 9.77 EYA1 SIX1 SIX2
3 kidney development GO:0001822 9.77 GREB1L ITGA8 SALL1 SIX1 SIX2
4 inner ear morphogenesis GO:0042472 9.73 EYA1 ITGA8 PAX2 SIX1
5 cell communication GO:0007154 9.71 FRAS1 FREM1 FREM2 FREM3
6 anatomical structure development GO:0048856 9.7 EYA1 SIX1 SIX2
7 cochlea morphogenesis GO:0090103 9.67 EYA1 PAX2 SIX1
8 morphogenesis of an epithelium GO:0002009 9.65 FRAS1 FREM2
9 pharyngeal system development GO:0060037 9.65 EYA1 SIX1
10 middle ear morphogenesis GO:0042474 9.65 EYA1 SIX1 SIX2
11 ureteric bud development GO:0001657 9.65 EYA1 GDNF RET SALL1 SIX1
12 neuron fate specification GO:0048665 9.64 EYA1 SIX1
13 aorta morphogenesis GO:0035909 9.63 EYA1 SIX1
14 enteric nervous system development GO:0048484 9.63 GDNF RET
15 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.63 GDNF PAX2 SIX1
16 organ induction GO:0001759 9.62 GDNF SIX1
17 outer ear morphogenesis GO:0042473 9.62 EYA1 SALL1
18 metanephric mesenchyme development GO:0072075 9.61 PAX2 SIX1
19 otic vesicle development GO:0071599 9.61 EYA1 SIX1
20 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.58 GDNF PAX2
21 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.57 EYA1 SIX1
22 positive regulation of ureteric bud formation GO:0072107 9.56 GDNF SIX1
23 ureter maturation GO:0035799 9.55 PAX2 RET
24 metanephros development GO:0001656 9.55 EYA1 GDNF GREB1L ITGA8 SIX2
25 positive regulation of metanephric glomerulus development GO:0072300 9.54 PAX2 RET
26 mesodermal cell fate specification GO:0007501 9.5 EYA1 PAX2 SIX2
27 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.26 GDNF PAX2 SALL1 SIX2
28 branching involved in ureteric bud morphogenesis GO:0001658 9.1 EYA1 GDNF GREB1L PAX2 SALL1 SIX1
29 positive regulation of transcription by RNA polymerase II GO:0045944 10.13 EYA1 GDNF PAX2 SALL1 SIX1 SIX2
30 multicellular organism development GO:0007275 10.11 EYA1 FREM1 FREM2 GREB1L ITGA8 PAX2
31 positive regulation of transcription, DNA-templated GO:0045893 10.07 EYA1 GRIP1 PAX2 RET SALL1 SIX1
32 cell adhesion GO:0007155 10.06 ANOS1 FREM1 FREM2 FREM3 ITGA8 RET

Sources for Renal Hypodysplasia/aplasia 1

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10 dbSNP
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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