MCID: RNL100
MIFTS: 57

Renal Hypodysplasia/aplasia 1

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

Aliases & Classifications for Renal Hypodysplasia/aplasia 1

MalaCards integrated aliases for Renal Hypodysplasia/aplasia 1:

Name: Renal Hypodysplasia/aplasia 1 57 75
Renal Agenesis 57 12 76 53 59 75 29 55 15
Renal Adysplasia 57 12 75 29 13 6 73
Renal Aplasia 57 12 75
Hereditary Renal Aplasia 57 12
Rhda1 57 75
Congenital Absence of Kidneys Syndrome 73
Hypodysplasia/aplasia, Renal, Type 1 40
Hereditary Urogenital Adysplasia 12
Hereditary Renal Aplasia; Hra 57
Hra 57

Characteristics:

Orphanet epidemiological data:

59
renal agenesis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
renal hypodysplasia/aplasia 1:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 191830
Disease Ontology 12 DOID:14766
Orphanet 59 ORPHA411709
ICD10 via Orphanet 34 Q60.2 Q60.0 Q60.1
UMLS via Orphanet 74 C1609433 C0542519 C1619700

Summaries for Renal Hypodysplasia/aplasia 1

NIH Rare Diseases : 53 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 hypodysplasia/aplasia 3 and aniridia renal agenesis psychomotor retardation. An important gene associated with Renal Hypodysplasia/aplasia 1 is ITGA8 (Integrin Subunit Alpha 8). The drugs Menthol and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and lung, and related phenotypes are hypertelorism and low-set ears

OMIM : 57 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 : 75 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.

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

Wikipedia : 76 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 84)
# Related Disease Score Top Affiliating Genes
1 renal hypodysplasia/aplasia 3 31.3 FRAS1 FREM1 FREM2 GREB1L RET
2 aniridia renal agenesis psychomotor retardation 12.2
3 jejunal atresia with renal adysplasia 12.1
4 renal adysplasia dominant type 12.1
5 bilateral renal aplasia 12.0
6 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 11.6
7 costello syndrome 11.5
8 nevus, epidermal 11.3
9 renal hypodysplasia/aplasia 2 10.9
10 cakut 10.8 PAX2 RET
11 medullary sponge kidney 10.7 GDNF RET
12 hypoganglionosis 10.7 GDNF RET
13 renal agenesis, bilateral 10.6 GREB1L ITGA8 RET
14 intestinal obstruction 10.6 CFTR GDNF RET
15 renal dysplasia 10.6 GDNF PAX2 SALL1
16 renal hypoplasia 10.5 EYA1 PAX2
17 diaphragmatic hernia, congenital 10.3 FRAS1 FREM1 FREM2
18 hemifacial microsomia 10.3 HOXA2 SALL1
19 anus, imperforate 10.3 GREB1L SALL1
20 cryptophthalmos 10.2 FRAS1 FREM1 FREM2 GRIP1
21 branchiooculofacial syndrome 10.2 EYA1 SIX5
22 deafness, autosomal dominant 10 10.2 EYA1 PAX2 SIX5
23 chromosome 2q35 duplication syndrome 10.2 FRAS1 FREM1 FREM2 GRIP1
24 multiple endocrine neoplasia, type iib 10.1 GDNF RET
25 urogenital adysplasia 10.1
26 lacrimal duct obstruction 10.0 EYA1 SIX5
27 squamous cell carcinoma 10.0
28 chronic interstitial cystitis 10.0
29 thyroiditis 10.0
30 phacomatosis pigmentokeratotica 10.0
31 phakomatosis pigmentokeratotica 10.0
32 vaginitis 9.9
33 vaginal atresia 9.9
34 bladder cancer 9.9
35 rhabdomyosarcoma 9.9
36 myoepithelioma 9.9
37 embryonal rhabdomyosarcoma 9.9
38 myopathy 9.9
39 epithelial-myoepithelial carcinoma 9.9
40 breast cancer 9.8
41 ovarian cancer 9.8
42 aging 9.8
43 hypophosphatemia 9.8
44 sarcoma 9.8
45 keratosis 9.8
46 melanoma 9.8
47 adenoma 9.8
48 spitz nevus 9.8
49 woolly hair syndrome 9.8
50 alcohol dependence 9.6

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Renal Hypodysplasia/aplasia 1:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 hypertension 32 HP:0000822
4 proteinuria 32 HP:0000093
5 retrognathia 32 HP:0000278
6 primary amenorrhea 32 HP:0000786
7 talipes equinovarus 32 HP:0001762
8 oligohydramnios 32 HP:0001562
9 renal agenesis 32 HP:0000104
10 pulmonary hypoplasia 32 HP:0002089
11 bicornuate uterus 32 HP:0000813
12 renal dysplasia 32 HP:0000110
13 vaginal atresia 32 HP:0000148
14 potter facies 32 HP:0002009

MGI Mouse Phenotypes related to Renal Hypodysplasia/aplasia 1:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.28 ITGA8 GRIP1 PAX2 HOXA2 RET HS2ST1
2 cardiovascular system MP:0005385 10.25 GRIP1 PAX2 HOXA2 GDNF SALL1 SIX2
3 growth/size/body region MP:0005378 10.24 HS2ST1 GDNF GRIP1 HOXA2 SALL1 RET
4 digestive/alimentary MP:0005381 10.18 HOXA2 RET HS2ST1 GDNF SALL1 FREM1
5 endocrine/exocrine gland MP:0005379 10.11 HS2ST1 GDNF PAX2 SIX5 RET CFTR
6 nervous system MP:0003631 10.11 GDNF ITGA8 GRIP1 PAX2 HOXA2 HS2ST1
7 renal/urinary system MP:0005367 10.1 ITGA8 GRIP1 PAX2 RET HS2ST1 GDNF
8 craniofacial MP:0005382 10.08 HS2ST1 HOXA2 CFTR FREM1 EYA1 FREM2
9 limbs/digits/tail MP:0005371 10 GRIP1 HS2ST1 SALL1 RET FREM1 FREM2
10 hearing/vestibular/ear MP:0005377 9.95 ITGA8 PAX2 HOXA2 SALL1 EYA1 FREM2
11 muscle MP:0005369 9.95 GDNF HOXA2 SIX5 RET FREM1 EYA1
12 reproductive system MP:0005389 9.86 GDNF PAX2 FREM2 SIX5 RET CFTR
13 respiratory system MP:0005388 9.76 ITGA8 HOXA2 RET CFTR FREM1 EYA1
14 skeleton MP:0005390 9.56 HS2ST1 ITGA8 HOXA2 FREM2 SALL1 FRAS1
15 vision/eye MP:0005391 9.28 GRIP1 PAX2 HS2ST1 SIX5 CFTR FREM1

Drugs & Therapeutics for Renal Hypodysplasia/aplasia 1

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved Not Applicable 2216-51-5 16666
2 Anesthetics Not Applicable
3 Anesthetics, Local Not Applicable
4 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Renal Agenesis Fetal Therapy Recruiting NCT03101891 Not Applicable Normal Saline, 0.9% injectable solution
2 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 29 ITGA8 PAX2 RET
2 Renal Agenesis 29

Anatomical Context for Renal Hypodysplasia/aplasia 1

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

41
Kidney, Uterus, Lung, Testis, Eye, Prostate, Colon

Publications for Renal Hypodysplasia/aplasia 1

Articles related to Renal Hypodysplasia/aplasia 1:

(show top 50) (show all 550)
# Title Authors Year
1
Myelomeningocele with Unilateral Right Renal Agenesis: A Case Report. ( 29321944 )
2018
2
Complete dorsal pancreatic agenesis and unilateral renal agenesis. ( 29487639 )
2018
3
A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans. ( 28739660 )
2017
4
Association of Unilateral Renal Agenesis With Adverse Outcomes in Pregnancy: A Matched Cohort Study. ( 28396109 )
2017
5
Ipsilateral Renal Agenesis With Megaureter, Blind End Proximal Ureter And Ureterocele In An Adult. ( 28712197 )
2017
6
Unilateral renal agenesis with subseptate uterus and sacrococcygeal teratoma: A unique triad. ( 29089677 )
2017
7
Unilateral Blind Ending Ureter with Vesicoureteral Reflux and Associated Renal Agenesis -Multidetector Computed Tomography Imaging Findings. ( 27085570 )
2016
8
Heterozygous p.S811F RET gene mutation associated with renal agenesis, oligomeganephronia and total colonic aganglionosis: a case report. ( 27717313 )
2016
9
[Unilateral renal agenesis. New arguments about the genetic relationship between kidney malformations and urolithiasis]. ( 26669685 )
2016
10
Renal Agenesis with Full Length Ipsilateral Refluxing Ureter. ( 27170916 )
2016
11
Pseudo-Exstrophy of Bladder with Unilateral Renal Agenesis: A Rare Combination of two Anomalies. ( 28208931 )
2016
12
Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report. ( 27036947 )
2016
13
A Case of Cryptorchidism with Ipsilateral Congenital Unilateral Absence of the Vas Deferens and Contralateral Renal Agenesis. ( 27597925 )
2016
14
The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients. ( 27480277 )
2016
15
Congenital Seminal Vesicle Cyst and Ipsilateral Renal Agenesis (Zinner Syndrome): A Rare Association and Its Evolution from Early Childhood to Adolescence. ( 26788458 )
2015
16
Uterus didelphys with unilateral obstructed hemivagina and haematocolpos with ipsilateral renal agenesis - a case report. ( 25725693 )
2015
17
Uterus Didelphys with Obstructed Hemivagina and Ipsilateral Renal Agenesis (OHVIRA Syndrome). ( 27203202 )
2015
18
Obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) syndrome should be redefined as ipsilateral renal anomalies: Cases of symptomatic atrophic and dysplastic kidney with ectopic ureter to obstructed hemivagina. ( 25797857 )
2015
19
Genetic etiology of renal agenesis: fine mapping of Renag1 and identification of Kit as the candidate functional gene. ( 25693193 )
2015
20
Genomic and epigenomic analyses of monozygotic twins discordant for congenital renal agenesis. ( 24583054 )
2014
21
Complete septate uterus, obstructed hemivagina, and ipsilateral adnexal and renal agenesis in pregnancy. ( 25105105 )
2014
22
Successful in utero intervention for bilateral renal agenesis. ( 25004316 )
2014
23
Reproductive outcome in uterine malformations with or without an associated unilateral renal agenesis. ( 24597290 )
2014
24
Congenital absence of the vas deferens and unilateral renal agenesis: implications for patient and family. ( 24879556 )
2014
25
Seminal vesicle hypoplasia with contralateral renal agenesis. ( 25053522 )
2014
26
Benign cystic mesothelioma associated with ipsilateral renal agenesis: a case report and review of literature. ( 25207989 )
2014
27
Complementary role of magnetic resonance imaging after ultrasound examination in assessing fetal renal agenesis: a case report. ( 24618008 )
2014
28
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans. ( 24439109 )
2014
29
Renal Agenesis in Kallmann Syndrome: A Network Approach. ( 25227403 )
2014
30
Hernia of the bladder through the broad ligament with renal agenesis and ipsilateral ureter blind ending. ( 25422693 )
2014
31
Uterine Didelphys, Obstructed Hemivagina and Ipsilateral Renal Agenesis: Presentation and Management. ( 25014169 )
2014
32
Waardenburg Syndrome With Familial Unilateral Renal Agenesis: A New Syndrome Variant? ( 25402868 )
2014
33
Perineal lipoma with accessory labioscrotal fold and penis-like phallus in a female infant with unilateral renal agenesis. ( 24857274 )
2014
34
Unilateral Branchial Sinus with Unilateral Renal Agenesis: A Variant of BOR Syndrome? A Case Report. ( 24533416 )
2014
35
Uterus didelphys with blind hemivagina and ipsilateral renal agenesis (Herlyn-Werner-Wunderlich syndrome) suspected on the presence of hydrocolpos on prenatal sonography. ( 22678931 )
2013
36
Pregnancies in women with uterine malformation, treated obstruction of hemivagina and ipsilateral renal agenesis. ( 23247278 )
2013
37
An abnormally large prostatic utricle cyst associated with unilateral renal agenesis. ( 23798876 )
2013
38
True ectopic ovary in the right iliac fossa mimicking acute appendicitis and associated with ipsilateral renal agenesis. ( 24320118 )
2013
39
Double uterus with obstructed hemivagina and ipsilateral renal agenesis: pelvic anatomic variants in 87 cases. ( 23532323 )
2013
40
Obstructed hemivagina and ipsilateral renal agenesis with intestinal malrotation. ( 23910815 )
2013
41
Herlyn-Werner-Wuderlich syndrome: uterus didelphys and obstructed hemivagina with unilateral renal agenesis. ( 23484247 )
2013
42
Seminoma Arising from Intra-abdominal Cryptorchidism with Ipsilateral Renal Agenesis: A Rare Association. ( 24426596 )
2013
43
Multicentric paraspinal neuroglial heterotopia with MA1llerian and renal agenesis: a variant of Mayer-Rokitansky-KA1ster-Hauser syndrome? ( 23968558 )
2013
44
Renal outcome of children with unilateral renal agenesis. ( 24577979 )
2013
45
Unilateral renal agenesis: a systematic review on associated anomalies and renal injury. ( 23449343 )
2013
46
A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis. ( 24152999 )
2013
47
Rectovesical ligament and fusion defect of the uterus with or without obstructed hemivagina and ipsilateral renal agenesis. ( 23352619 )
2013
48
Duplicated uterus and hemivaginal or hemicervical atresia with ipsilateral renal agenesis: an institutional clinical series of 52 cases. ( 23928479 )
2013
49
Seizure, deafness and renal agenesis: A rare case of barakat syndrome. ( 23661972 )
2013
50
Laparoscopic adrenalectomy of a large pheochromocytoma in a multiple endocrine neoplasia-2A patient with renal agenesis. ( 23924484 )
2013

Variations for Renal Hypodysplasia/aplasia 1

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

75
# 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 206)
# Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh37 Chromosome 10, 43620335: 43620335
2 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh38 Chromosome 10, 43124887: 43124887
3 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
4 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic rs79658334 GRCh38 Chromosome 10, 43119548: 43119548
5 ITGA8 NM_003638.2(ITGA8): c.2982+2T> C single nucleotide variant Pathogenic rs587777279 GRCh37 Chromosome 10, 15573047: 15573047
6 ITGA8 NM_003638.2(ITGA8): c.2982+2T> C single nucleotide variant Pathogenic rs587777279 GRCh38 Chromosome 10, 15531048: 15531048
7 ITGA8 NM_003638.2(ITGA8): c.1622_1626delAGGTG (p.Glu541Alafs) deletion Pathogenic rs587777280 GRCh37 Chromosome 10, 15649814: 15649818
8 ITGA8 NM_003638.2(ITGA8): c.1622_1626delAGGTG (p.Glu541Alafs) deletion Pathogenic rs587777280 GRCh38 Chromosome 10, 15607815: 15607819
9 ITGA8 NM_003638.2(ITGA8): c.1219G> A (p.Gly407Arg) single nucleotide variant Pathogenic rs374664941 GRCh37 Chromosome 10, 15686209: 15686209
10 ITGA8 NM_003638.2(ITGA8): c.1219G> A (p.Gly407Arg) single nucleotide variant Pathogenic rs374664941 GRCh38 Chromosome 10, 15644210: 15644210
11 RET NM_020975.4(RET): c.957C> A (p.Leu319=) single nucleotide variant Conflicting interpretations of pathogenicity rs149926238 GRCh37 Chromosome 10, 43601913: 43601913
12 RET NM_020975.4(RET): c.957C> A (p.Leu319=) single nucleotide variant Conflicting interpretations of pathogenicity rs149926238 GRCh38 Chromosome 10, 43106465: 43106465
13 RET NM_020975.5(RET): c.3253A> G (p.Thr1085Ala) single nucleotide variant Uncertain significance rs756465544 GRCh37 Chromosome 10, 43623625: 43623625
14 RET NM_020975.5(RET): c.3253A> G (p.Thr1085Ala) single nucleotide variant Uncertain significance rs756465544 GRCh38 Chromosome 10, 43128177: 43128177
15 RET NM_020975.4(RET): c.1118C> T (p.Ala373Val) single nucleotide variant Benign/Likely benign rs546866208 GRCh37 Chromosome 10, 43604533: 43604533
16 RET NM_020975.4(RET): c.1118C> T (p.Ala373Val) single nucleotide variant Benign/Likely benign rs546866208 GRCh38 Chromosome 10, 43109085: 43109085
17 RET NM_020975.4(RET): c.334C> T (p.Arg112Cys) single nucleotide variant Uncertain significance rs762626209 GRCh38 Chromosome 10, 43100719: 43100719
18 RET NM_020975.4(RET): c.334C> T (p.Arg112Cys) single nucleotide variant Uncertain significance rs762626209 GRCh37 Chromosome 10, 43596167: 43596167
19 RET NM_020975.4(RET): c.2088G> A (p.Ser696=) single nucleotide variant Benign/Likely benign rs150329150 GRCh37 Chromosome 10, 43610136: 43610136
20 RET NM_020975.4(RET): c.2088G> A (p.Ser696=) single nucleotide variant Benign/Likely benign rs150329150 GRCh38 Chromosome 10, 43114688: 43114688
21 RET NM_020975.4(RET): c.2988G> A (p.Pro996=) single nucleotide variant Conflicting interpretations of pathogenicity rs145798106 GRCh37 Chromosome 10, 43620379: 43620379
22 RET NM_020975.4(RET): c.2988G> A (p.Pro996=) single nucleotide variant Conflicting interpretations of pathogenicity rs145798106 GRCh38 Chromosome 10, 43124931: 43124931
23 RET NM_020975.4(RET): c.654G> A (p.Pro218=) single nucleotide variant Benign/Likely benign rs137928436 GRCh38 Chromosome 10, 43104980: 43104980
24 RET NM_020975.4(RET): c.654G> A (p.Pro218=) single nucleotide variant Benign/Likely benign rs137928436 GRCh37 Chromosome 10, 43600428: 43600428
25 UPK3A NM_001167574.1(UPK3A): c.202G> A (p.Asp68Asn) single nucleotide variant Uncertain significance rs145186308 GRCh37 Chromosome 22, 45681971: 45681971
26 UPK3A NM_001167574.1(UPK3A): c.202G> A (p.Asp68Asn) single nucleotide variant Uncertain significance rs145186308 GRCh38 Chromosome 22, 45286090: 45286090
27 RET NM_020975.4(RET): c.2052G> A (p.Pro684=) single nucleotide variant Conflicting interpretations of pathogenicity rs145122337 GRCh37 Chromosome 10, 43610100: 43610100
28 RET NM_020975.4(RET): c.2052G> A (p.Pro684=) single nucleotide variant Conflicting interpretations of pathogenicity rs145122337 GRCh38 Chromosome 10, 43114652: 43114652
29 RET NM_020975.4(RET): c.-132G> T single nucleotide variant Uncertain significance rs886046985 GRCh37 Chromosome 10, 43572575: 43572575
30 RET NM_020975.4(RET): c.-132G> T single nucleotide variant Uncertain significance rs886046985 GRCh38 Chromosome 10, 43077127: 43077127
31 RET NM_020975.4(RET): c.1109T> A (p.Met370Lys) single nucleotide variant Uncertain significance rs886046987 GRCh37 Chromosome 10, 43604524: 43604524
32 RET NM_020975.4(RET): c.1109T> A (p.Met370Lys) single nucleotide variant Uncertain significance rs886046987 GRCh38 Chromosome 10, 43109076: 43109076
33 RET NM_020975.4(RET): c.1523-7C> T single nucleotide variant Likely benign rs567967877 GRCh37 Chromosome 10, 43607540: 43607540
34 RET NM_020975.4(RET): c.1523-7C> T single nucleotide variant Likely benign rs567967877 GRCh38 Chromosome 10, 43112092: 43112092
35 RET NM_020975.4(RET): c.2847A> G (p.Gly949=) single nucleotide variant Uncertain significance rs886046989 GRCh37 Chromosome 10, 43619164: 43619164
36 RET NM_020975.4(RET): c.2847A> G (p.Gly949=) single nucleotide variant Uncertain significance rs886046989 GRCh38 Chromosome 10, 43123716: 43123716
37 RET NM_020975.5(RET): c.*84G> A single nucleotide variant Uncertain significance rs558718557 GRCh37 Chromosome 10, 43623801: 43623801
38 RET NM_020975.5(RET): c.*84G> A single nucleotide variant Uncertain significance rs558718557 GRCh38 Chromosome 10, 43128353: 43128353
39 RET NM_020975.5(RET): c.*358G> T single nucleotide variant Uncertain significance rs886046991 GRCh37 Chromosome 10, 43624075: 43624075
40 RET NM_020975.5(RET): c.*358G> T single nucleotide variant Uncertain significance rs886046991 GRCh38 Chromosome 10, 43128627: 43128627
41 RET NM_020975.5(RET): c.*506G> T single nucleotide variant Uncertain significance rs886046995 GRCh38 Chromosome 10, 43128775: 43128775
42 RET NM_020975.5(RET): c.*506G> T single nucleotide variant Uncertain significance rs886046995 GRCh37 Chromosome 10, 43624223: 43624223
43 RET NM_020975.5(RET): c.*553G> T single nucleotide variant Uncertain significance rs886046998 GRCh37 Chromosome 10, 43624270: 43624270
44 RET NM_020975.5(RET): c.*553G> T single nucleotide variant Uncertain significance rs886046998 GRCh38 Chromosome 10, 43128822: 43128822
45 RET NM_020975.5(RET): c.*576G> A single nucleotide variant Likely benign rs185408658 GRCh37 Chromosome 10, 43624293: 43624293
46 RET NM_020975.5(RET): c.*576G> A single nucleotide variant Likely benign rs185408658 GRCh38 Chromosome 10, 43128845: 43128845
47 RET NM_020975.5(RET): c.*824G> T single nucleotide variant Uncertain significance rs886047002 GRCh37 Chromosome 10, 43624541: 43624541
48 RET NM_020975.5(RET): c.*824G> T single nucleotide variant Uncertain significance rs886047002 GRCh38 Chromosome 10, 43129093: 43129093
49 RET NM_020975.5(RET): c.*935C> A single nucleotide variant Uncertain significance rs886047003 GRCh37 Chromosome 10, 43624652: 43624652
50 RET NM_020975.5(RET): c.*935C> A single nucleotide variant Uncertain significance rs886047003 GRCh38 Chromosome 10, 43129204: 43129204

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 24)
# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.76 GREB1L ITGA8 SALL1 SIX2
2 cellular response to retinoic acid GO:0071300 9.74 HOXA2 PAX2 RET
3 inner ear morphogenesis GO:0042472 9.73 EYA1 ITGA8 PAX2
4 embryonic skeletal system morphogenesis GO:0048704 9.71 EYA1 HOXA2 SIX2
5 cell communication GO:0007154 9.71 FRAS1 FREM1 FREM2 FREM3
6 ureteric bud development GO:0001657 9.67 EYA1 GDNF RET SALL1
7 cochlea morphogenesis GO:0090103 9.62 EYA1 PAX2
8 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.61 GDNF PAX2
9 morphogenesis of an epithelium GO:0002009 9.61 FRAS1 FREM2
10 middle ear morphogenesis GO:0042474 9.61 EYA1 HOXA2 SIX2
11 cell fate determination GO:0001709 9.59 HOXA2 PAX2
12 enteric nervous system development GO:0048484 9.58 GDNF RET
13 outer ear morphogenesis GO:0042473 9.58 EYA1 SALL1
14 branching involved in ureteric bud morphogenesis GO:0001658 9.55 EYA1 GDNF GREB1L PAX2 SALL1
15 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.51 GDNF PAX2
16 mesodermal cell fate specification GO:0007501 9.5 EYA1 PAX2 SIX2
17 ureter maturation GO:0035799 9.49 PAX2 RET
18 positive regulation of metanephric glomerulus development GO:0072300 9.48 PAX2 RET
19 metanephros development GO:0001656 9.35 EYA1 GDNF GREB1L ITGA8 SIX2
20 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 8.92 GDNF PAX2 SALL1 SIX2
21 positive regulation of transcription by RNA polymerase II GO:0045944 10.09 EYA1 GDNF HOXA2 PAX2 SALL1 SIX2
22 positive regulation of transcription, DNA-templated GO:0045893 10 EYA1 GRIP1 PAX2 RET SALL1
23 cell adhesion GO:0007155 10 ANOS1 FREM1 FREM2 FREM3 ITGA8 RET
24 multicellular organism development GO:0007275 10 EYA1 FREM1 FREM2 GREB1L HOXA2 ITGA8

Sources for Renal Hypodysplasia/aplasia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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44 MeSH
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55 Novoseek
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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