RHDA1
MCID: RNL100
MIFTS: 63

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 56 73 29 6
Renal Agenesis 56 12 74 52 58 73 54 6 15
Renal Adysplasia 56 12 73 13 71
Renal Aplasia 56 12 73
Hereditary Renal Aplasia 56 12
Rhda1 56 73
Congenital Absence of Kidneys Syndrome 71
Hypodysplasia/aplasia, Renal, Type 1 39
Hereditary Urogenital Adysplasia 12
Hereditary Renal Aplasia; Hra 56
Hra 56

Characteristics:

Orphanet epidemiological data:

58
renal agenesis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
renal hypodysplasia/aplasia 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:14766
OMIM 56 191830
OMIM Phenotypic Series 56 PS191830
ICD10 32 Q60.2
ICD10 via Orphanet 33 Q60.0 Q60.1 Q60.2
UMLS via Orphanet 72 C0542519 C1609433 C1619700
Orphanet 58 ORPHA411709
UMLS 71 C1609433 C1619700

Summaries for Renal Hypodysplasia/aplasia 1

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 411709 Definition Renal 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). Epidemiology The 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 description Most 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. Etiology Renal 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 counseling In 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 congenital anomalies of kidney and urinary tract 2. An important gene associated with Renal Hypodysplasia/aplasia 1 is ITGA8 (Integrin Subunit Alpha 8), and among its related pathways/superpathways are ECM-receptor interaction and Signaling events regulated by Ret tyrosine kinase. The drugs Pharmaceutical Solutions and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and testis, and related phenotypes are unilateral renal agenesis and ureteral agenesis

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

OMIM : 56 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 : 73 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 : 74 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 591)
# Related Disease Score Top Affiliating Genes
1 renal agenesis, bilateral 34.7 RET ITGA8 GREB1L
2 congenital anomalies of kidney and urinary tract 2 33.2 UPK3A PAX2 EYA1 AGTR2
3 fraser syndrome 1 33.1 SIX1 GRIP1 FREM2 FREM1 FRAS1 EYA1
4 bilateral renal aplasia 32.5 PAX2 ITGA8 GFRA1 EYA1
5 renal hypodysplasia/aplasia 3 32.4 UPK3A TMCO1 RET GREB1L FREM2 FREM1
6 oligomeganephronia 32.3 PAX2 EYA1
7 renal hypoplasia 32.1 SIX2 SIX1 SALL1 PAX2 GDNF FREM2
8 cakut 32.0 UPK3A SIX2 SIX1 SALL1 RET PAX2
9 papillorenal syndrome 31.7 UPK3A SIX2 SIX1 SALL1 PAX2 GDNF
10 renal dysplasia 31.4 SALL1 PAX2 GDNF
11 multicystic dysplastic kidney 31.2 PAX2 AGTR2
12 urinary tract obstruction 31.0 UPK3A PAX2 GDNF
13 anus, imperforate 31.0 SALL1 FREM2 FRAS1
14 cryptorchidism, unilateral or bilateral 30.9 TMCO1 GFRA1 GDNF CFTR ANOS1
15 kidney disease 30.9 SIX1 PAX2 ITGA8 EYA1 CFTR AGTR2
16 hydronephrosis 30.9 UPK3A PAX2 AGTR2
17 chromosome 2q35 duplication syndrome 30.8 SALL1 GRIP1 FREM2 FREM1 FRAS1
18 multiple endocrine neoplasia, type iia 30.8 RET GFRA1 GDNF
19 thyroid carcinoma, familial medullary 30.8 RET GFRA1 GDNF
20 cryptophthalmos 30.7 GRIP1 FREM2 FREM1 FRAS1
21 coloboma of macula 30.7 SALL1 PAX2 FREM2 FREM1 FRAS1 EYA1
22 medullary sponge kidney 30.6 RET GDNF
23 diaphragmatic hernia, congenital 30.5 FREM2 FREM1 FRAS1
24 hirschsprung disease 1 30.5 RET LOC106736614 GFRA1 GDNF
25 wilms tumor 1 30.5 SIX2 SIX1 PAX2 EYA1
26 vesicoureteral reflux 1 30.5 UPK3A SIX2 SIX1 SALL1 RET PAX2
27 megacolon 30.4 RET GFRA1 GDNF
28 synostosis 30.3 FREM2 FREM1 FRAS1
29 microphthalmia 30.2 SALL1 PAX2 FREM1 FRAS1 EYA1
30 branchiootorenal syndrome 29.9 UPK3A SIX2 SIX1 SALL1 PAX2 FREM2
31 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 12.7
32 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 12.6
33 jejunal atresia with renal adysplasia 12.4
34 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 12.4
35 hirschsprung disease with polydactyly, renal agenesis, and deafness 12.4
36 double uterus-hemivagina-renal agenesis 12.4
37 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 12.3
38 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs 12.3
39 bilateral renal agenesis dominant type 12.2
40 bifid nose with or without anorectal and renal anomalies 12.1
41 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 12.0
42 potter's syndrome 11.9
43 costello syndrome 11.8
44 kallmann syndrome 11.6
45 bladder cancer 11.6
46 nevus, epidermal 11.6
47 schimmelpenning-feuerstein-mims syndrome 11.5
48 holzgreve syndrome 11.5
49 santos mateus leal syndrome 11.5
50 angiosarcoma 11.5

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:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 unilateral renal agenesis 58 31 frequent (33%) Frequent (79-30%) HP:0000122
2 ureteral agenesis 58 31 frequent (33%) Frequent (79-30%) HP:0012300
3 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
4 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
5 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
6 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
7 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
8 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
9 oligohydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001562
10 pulmonary hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002089
11 aplasia/hypoplasia of the uterus 58 31 occasional (7.5%) Occasional (29-5%) HP:0008684
12 absent vas deferens 58 31 occasional (7.5%) Occasional (29-5%) HP:0012873
13 bilateral renal agenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010958
14 potter facies 58 31 occasional (7.5%) Occasional (29-5%) HP:0002009
15 aplasia/hypoplasia of the bladder 58 31 occasional (7.5%) Occasional (29-5%) HP:0010476
16 renal agenesis 58 31 Obligate (100%) HP:0000104
17 hypertelorism 31 HP:0000316
18 retrognathia 31 HP:0000278
19 low-set ears 31 HP:0000369
20 primary amenorrhea 31 HP:0000786
21 bicornuate uterus 31 HP:0000813
22 vaginal atresia 31 HP:0000148
23 renal dysplasia 31 HP:0000110

Symptoms via clinical synopsis from OMIM:

56
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:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.36 AGTR2 CFTR EYA1 FRAS1 FREM1 FREM2
2 cardiovascular system MP:0005385 10.35 AGTR2 EYA1 FRAS1 FREM2 GDNF GREB1L
3 behavior/neurological MP:0005386 10.32 AGTR2 CFTR EYA1 GDNF GFRA1 ITGA8
4 growth/size/body region MP:0005378 10.31 AGTR2 CFTR EYA1 FRAS1 FREM1 FREM2
5 cellular MP:0005384 10.3 AGTR2 EYA1 FRAS1 GDNF GFRA1 ITGA8
6 digestive/alimentary MP:0005381 10.28 AGTR2 CFTR EYA1 FRAS1 FREM1 GDNF
7 renal/urinary system MP:0005367 10.22 AGTR2 EYA1 FRAS1 FREM1 FREM2 GDNF
8 nervous system MP:0003631 10.21 AGTR2 EYA1 FREM1 FREM2 GDNF GFRA1
9 embryo MP:0005380 10.18 EYA1 FREM2 GFRA1 GREB1L GRIP1 PAX2
10 endocrine/exocrine gland MP:0005379 10.16 AGTR2 CFTR EYA1 FREM1 GDNF GREB1L
11 craniofacial MP:0005382 10.09 CFTR EYA1 FRAS1 FREM1 FREM2 SIX1
12 muscle MP:0005369 10.01 AGTR2 EYA1 FREM1 FREM2 GDNF GFRA1
13 limbs/digits/tail MP:0005371 10 FRAS1 FREM1 FREM2 GRIP1 RET SALL1
14 hearing/vestibular/ear MP:0005377 9.95 EYA1 FREM2 ITGA8 PAX2 SALL1 SIX1
15 reproductive system MP:0005389 9.91 CFTR EYA1 FREM1 FREM2 GDNF GREB1L
16 respiratory system MP:0005388 9.81 CFTR EYA1 FRAS1 FREM1 FREM2 GREB1L
17 skeleton MP:0005390 9.61 AGTR2 EYA1 FRAS1 FREM1 FREM2 ITGA8
18 vision/eye MP:0005391 9.28 CFTR EYA1 FRAS1 FREM1 FREM2 GREB1L

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 Pharmaceutical Solutions Phase 1
2 Anesthetics
3 Anesthetics, Local

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Serial Amnioinfusions as Regenerative Therapy for Pulmonary Hypoplasia in Fetuses With Intrauterine Renal Failure or Severe Renal Anomalies- a Feasibility Study Recruiting NCT03723564 Phase 1 Lactated Ringers Solution for Injection
2 Renal Outcome in Children With Congenital Solitary Kidney: a Longitudinal Prognostic Study Unknown status NCT01831141
3 Assessment of Quality of Global and Sexual Life and Impact of Surgical and Non Surgical Vaginal Aplasia in Patients With a Rokitansky Syndrome Unknown status NCT01911884
4 Renal Anhydramnios Fetal Therapy (RAFT) Trial Recruiting NCT03101891 Isotonic fluid

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 Hypodysplasia/aplasia 1 29 ITGA8

Anatomical Context for Renal Hypodysplasia/aplasia 1

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

40
Kidney, Uterus, Testis, Lung, Prostate, Eye, Heart

Publications for Renal Hypodysplasia/aplasia 1

Articles related to Renal Hypodysplasia/aplasia 1:

(show top 50) (show all 1916)
# Title Authors PMID Year
1
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans. 56 6 61
24439109 2014
2
Renal aplasia in humans is associated with RET mutations. 6 54 61
18252215 2008
3
Renal dysplasia, megalocystis, and sirenomelia in four siblings. 56 61
8475459 1993
4
Bilateral renal agenesis in three consecutive siblings. 56 61
3317388 1987
5
Renal agenesis in British Columbia. 56 61
4003440 1985
6
A pedigree study of perinatally lethal renal disease. 56 61
3886908 1985
7
Familial nature of congenital absence and severe dysgenesis of both kidneys. 56 61
6717505 1984
8
Hereditary renal adysplasia. 61 56
6741530 1984
9
Concordant monozygotic twins with bilateral renal agenesis. 56 61
6694189 1984
10
A family study of renal agenesis. 56 61
469895 1979
11
Bilateral renal agenesis in 2 male sibs born to consanguineous parents. 56 61
712765 1978
12
Familial renal agenesis and total dysplasia. 61 56
4413435 1974
13
Familial aggregation in bilateral renal agenesis. 56 61
4829427 1974
14
Familial bilateral renal agenesis and hereditary renal adysplasia. 61 56
4744207 1973
15
Bilateral renal agenesis in two female siblings. 56 61
5539818 1971
16
Facial characteristics of infants with bilateral renal agenesis. 56 61
20984673 1946
17
Copy-number disorders are a common cause of congenital kidney malformations. 56
23159250 2012
18
FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man. 6
22698282 2012
19
De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. 6
15888565 2005
20
De novo translocation (1; 2)(q32; p25) associated with bilateral renal dysplasia. 56
12694239 2003
21
Integrin alpha8beta1 is critically important for epithelial-mesenchymal interactions during kidney morphogenesis. 56
9054500 1997
22
Potter's syndrome in the second trimester--prenatal screening and pathological findings in 60 cases of oligohydramnios sequence. 56
7544896 1995
23
Renal ultrasound examination of parents in dominantly inherited renal adysplasia--a note of caution. 56
3287926 1988
24
Genetics, pathoanatomy and prenatal diagnosis of Potter I syndrome and other urogenital tract diseases. 56
7151297 1982
25
The association of bilateral and unilateral renal aplasia in the same family. 56
4797640 1973
26
A familial syndrome of renal, genital, and middle ear anomalies. 56
5634940 1968
27
NEWBORN AFTER PROLONGED LEAKAGE OF LIQUOR AMNII. 56
14171064 1964
28
Bilateral absence of the kidneys and related congenital anomalies. 56
14354552 1954
29
Bilateral agenesis of the kidneys in two consecutive infants. 56
13138668 1954
30
Renal aplasia in sisters. 56
12984947 1952
31
Correlation between CFTR gene mutations in Iranian men with congenital absence of the vas deferens and anatomical genital phenotype. 61 54
17673436 2008
32
Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome. 61 54
17603054 2007
33
Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development. 54 61
16670092 2006
34
Critical and distinct roles for key RET tyrosine docking sites in renal development. 61 54
16452504 2006
35
Renal hypoplasia: lessons from Pax2. 54 61
16273412 2006
36
Implication of genetic variations in congenital obstructive nephropathy. 54 61
16133060 2005
37
[Congenital absence of the vas deferens]. 61 54
15562795 2004
38
Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome. 61 54
15571757 2004
39
A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. 54 61
14730302 2004
40
A homozygous missense mutation in the tyrosine E kinase domain of the RET proto-oncogene in an infant with total intestinal aganglionosis. 61 54
11316186 2001
41
Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling. 54 61
11119745 2000
42
X-linked Kallmann syndrome and renal agenesis occurring together and independently in a large Australian family. 54 61
10076881 1999
43
Renal abnormalities in patients with Kallmann syndrome. 54 61
10210557 1999
44
Expression of the RET proto-oncogene in human embryos. 61 54
9880212 1998
45
Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. 54 61
8896568 1996
46
Characteristic dental pattern with hypodontia and short roots in Fraser syndrome. 61
32488952 2020
47
Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level. 61
31900751 2020
48
Favorable pregnancy outcome for a patient with Robert's uterus, bicornuate uterus, and ipsilateral renal agenesis. 61
32542745 2020
49
Contemporary Outcomes of Patients with Isolated Bilateral Renal Agenesis with and without Fetal Intervention. 61
32516788 2020
50
Isolated left ventricular non-compaction with moyamoya syndrome and renal agenesis-a rare association and a rare cause of recurrent stroke in a young boy. 61
32483656 2020

Variations for Renal Hypodysplasia/aplasia 1

ClinVar genetic disease variations for Renal Hypodysplasia/aplasia 1:

6 (show top 50) (show all 204) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMCO1 NM_019026.4(TMCO1):c.616C>T (p.Arg206Ter)SNV Pathogenic 598963 rs765379963 1:165712409-165712409 1:165743172-165743172
2 ITGA8 NM_003638.3(ITGA8):c.2982+2T>CSNV Pathogenic 126498 rs587777279 10:15573047-15573047 10:15531048-15531048
3 ITGA8 NM_003638.3(ITGA8):c.1622_1626del (p.Glu541fs)deletion Pathogenic 126499 rs587777280 10:15649814-15649818 10:15607815-15607819
4 ITGA8 NM_003638.3(ITGA8):c.1219G>A (p.Gly407Arg)SNV Pathogenic 126500 rs374664941 10:15686209-15686209 10:15644210-15644210
5 RET NM_020975.6(RET):c.2410G>A (p.Val804Met)SNV Pathogenic/Likely pathogenic 37102 rs79658334 10:43614996-43614996 10:43119548-43119548
6 RET NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)SNV Conflicting interpretations of pathogenicity 13936 rs77724903 10:43613908-43613908 10:43118460-43118460
7 RET NM_020975.6(RET):c.2944C>T (p.Arg982Cys)SNV Conflicting interpretations of pathogenicity 13938 rs17158558 10:43620335-43620335 10:43124887-43124887
8 RET NM_020975.6(RET):c.874G>A (p.Val292Met)SNV Conflicting interpretations of pathogenicity 24880 rs34682185 10:43601830-43601830 10:43106382-43106382
9 RET NM_020975.6(RET):c.1760-12G>ASNV Conflicting interpretations of pathogenicity 24889 rs377767392 10:43608992-43608992 10:43113544-43113544
10 RET NM_020975.6(RET):c.1946C>T (p.Ser649Leu)SNV Conflicting interpretations of pathogenicity 24928 rs148935214 10:43609994-43609994 10:43114546-43114546
11 RET NM_020975.6(RET):c.2071G>A (p.Gly691Ser)SNV Conflicting interpretations of pathogenicity 24934 rs1799939 10:43610119-43610119 10:43114671-43114671
12 RET NM_020975.6(RET):c.785T>C (p.Val262Ala)SNV Conflicting interpretations of pathogenicity 41845 rs139790943 10:43600559-43600559 10:43105111-43105111
13 RET NM_020975.6(RET):c.*1326T>CSNV Conflicting interpretations of pathogenicity 877535 10:43625043-43625043 10:43129595-43129595
14 RET NM_020975.6(RET):c.*1812C>ASNV Conflicting interpretations of pathogenicity 877645 10:43625529-43625529 10:43130081-43130081
15 RET NM_020975.6(RET):c.*29C>ASNV Conflicting interpretations of pathogenicity 877386 10:43623746-43623746 10:43128298-43128298
16 RET NM_020975.6(RET):c.*1046G>CSNV Conflicting interpretations of pathogenicity 878517 10:43624763-43624763 10:43129315-43129315
17 RET NM_020975.6(RET):c.235C>T (p.Arg79Trp)SNV Conflicting interpretations of pathogenicity 405541 rs537523906 10:43596068-43596068 10:43100620-43100620
18 RET NM_020975.6(RET):c.1264-8C>TSNV Conflicting interpretations of pathogenicity 477310 rs769595884 10:43606647-43606647 10:43111199-43111199
19 RET NM_020975.6(RET):c.718G>C (p.Val240Leu)SNV Conflicting interpretations of pathogenicity 477383 rs375120544 10:43600492-43600492 10:43105044-43105044
20 RET NM_020975.6(RET):c.566G>A (p.Arg189His)SNV Conflicting interpretations of pathogenicity 477378 rs753707182 10:43598018-43598018 10:43102570-43102570
21 RET NM_020975.6(RET):c.2939+7G>ASNV Conflicting interpretations of pathogenicity 477358 rs374565577 10:43619263-43619263 10:43123815-43123815
22 RET NM_020975.6(RET):c.487C>A (p.Arg163=)SNV Conflicting interpretations of pathogenicity 477377 rs371153966 10:43597939-43597939 10:43102491-43102491
23 RET NM_020975.6(RET):c.603C>T (p.Ser201=)SNV Conflicting interpretations of pathogenicity 477379 rs780120451 10:43598055-43598055 10:43102607-43102607
24 RET NM_020975.6(RET):c.2403C>T (p.Leu801=)SNV Conflicting interpretations of pathogenicity 486304 rs1554819519 10:43614989-43614989 10:43119541-43119541
25 RET NM_020975.6(RET):c.3052C>T (p.Leu1018Phe)SNV Conflicting interpretations of pathogenicity 543741 rs766330880 10:43622035-43622035 10:43126587-43126587
26 RET NM_020975.6(RET):c.1649-4G>ASNV Conflicting interpretations of pathogenicity 548897 rs369769303 10:43608297-43608297 10:43112849-43112849
27 RET NM_020975.6(RET):c.166C>A (p.Leu56Met)SNV Conflicting interpretations of pathogenicity 36723 rs145633958 10:43595999-43595999 10:43100551-43100551
28 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup)duplication Conflicting interpretations of pathogenicity 95305 rs398124211 X:139586488-139586489 X:140504323-140504324
29 RET NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)SNV Conflicting interpretations of pathogenicity 136115 rs201740483 10:43622095-43622095 10:43126647-43126647
30 RET NM_020975.6(RET):c.3188-9C>TSNV Conflicting interpretations of pathogenicity 136116 rs551159582 10:43623551-43623551 10:43128103-43128103
31 RET NM_020975.6(RET):c.3243T>C (p.Asp1081=)SNV Conflicting interpretations of pathogenicity 136118 rs144192900 10:43623615-43623615 10:43128167-43128167
32 RET NM_020975.6(RET):c.597C>T (p.Asn199=)SNV Conflicting interpretations of pathogenicity 136121 rs55810667 10:43598049-43598049 10:43102601-43102601
33 RET NM_020975.6(RET):c.693C>T (p.Arg231=)SNV Conflicting interpretations of pathogenicity 136123 rs576806329 10:43600467-43600467 10:43105019-43105019
34 RET NM_020975.6(RET):c.2081G>A (p.Arg694Gln)SNV Conflicting interpretations of pathogenicity 161358 rs141185224 10:43610129-43610129 10:43114681-43114681
35 RET NM_020975.6(RET):c.225G>A (p.Thr75=)SNV Conflicting interpretations of pathogenicity 184368 rs151267865 10:43596058-43596058 10:43100610-43100610
36 RET NM_020975.6(RET):c.957C>A (p.Leu319=)SNV Conflicting interpretations of pathogenicity 184139 rs149926238 10:43601913-43601913 10:43106465-43106465
37 RET NM_020975.6(RET):c.2523G>T (p.Pro841=)SNV Conflicting interpretations of pathogenicity 184140 rs56195026 10:43615109-43615109 10:43119661-43119661
38 RET NM_020975.6(RET):c.3253A>G (p.Thr1085Ala)SNV Conflicting interpretations of pathogenicity 183744 rs756465544 10:43623625-43623625 10:43128177-43128177
39 RET NM_020975.6(RET):c.972G>C (p.Trp324Cys)SNV Conflicting interpretations of pathogenicity 188078 rs758298916 10:43601928-43601928 10:43106480-43106480
40 RET NM_020975.6(RET):c.1158G>A (p.Ala386=)SNV Conflicting interpretations of pathogenicity 136095 rs373540097 10:43604573-43604573 10:43109125-43109125
41 RET NM_020975.6(RET):c.1699G>A (p.Asp567Asn)SNV Conflicting interpretations of pathogenicity 136103 rs147219360 10:43608351-43608351 10:43112903-43112903
42 RET NM_020975.6(RET):c.1920C>T (p.Ala640=)SNV Conflicting interpretations of pathogenicity 136105 rs149768519 10:43609968-43609968 10:43114520-43114520
43 RET NM_020975.6(RET):c.1890C>T (p.Cys630=)SNV Conflicting interpretations of pathogenicity 215909 rs781145070 10:43609938-43609938 10:43114490-43114490
44 RET NM_020975.6(RET):c.2988G>A (p.Pro996=)SNV Conflicting interpretations of pathogenicity 215914 rs145798106 10:43620379-43620379 10:43124931-43124931
45 RET NM_020975.6(RET):c.2052G>A (p.Pro684=)SNV Conflicting interpretations of pathogenicity 241343 rs145122337 10:43610100-43610100 10:43114652-43114652
46 RET NM_020975.6(RET):c.2538C>T (p.Leu846=)SNV Conflicting interpretations of pathogenicity 241348 rs201816539 10:43615124-43615124 10:43119676-43119676
47 RET NM_020975.6(RET):c.1119G>A (p.Ala373=)SNV Conflicting interpretations of pathogenicity 287736 rs113931414 10:43604534-43604534 10:43109086-43109086
48 RET NM_020975.6(RET):c.2847A>G (p.Gly949=)SNV Conflicting interpretations of pathogenicity 299900 rs886046989 10:43619164-43619164 10:43123716-43123716
49 RET NM_020975.6(RET):c.*84G>ASNV Conflicting interpretations of pathogenicity 299902 rs558718557 10:43623801-43623801 10:43128353-43128353
50 RET NM_020975.6(RET):c.1063+9G>ASNV Conflicting interpretations of pathogenicity 241333 rs765463636 10:43602028-43602028 10:43106580-43106580

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

73
# Symbol AA change Variation ID SNP ID
1 ITGA8 p.Gly407Arg VAR_071107 rs374664941

Expression for Renal Hypodysplasia/aplasia 1

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

Pathways for Renal Hypodysplasia/aplasia 1

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 ITGA8 FREM2 FREM1 FRAS1
2 10.38 RET GFRA1 GDNF
3 9.61 RET GFRA1 GDNF

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 8.8 FREM2 FREM1 FRAS1

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.11 SIX2 SIX1 RET PAX2 ITGA8 GREB1L
2 cell adhesion GO:0007155 10.05 RET ITGA8 FREM2 FREM1 ANOS1
3 positive regulation of transcription, DNA-templated GO:0045893 10.04 SIX1 SALL1 RET PAX2 GRIP1 EYA1
4 axon guidance GO:0007411 9.93 RET GFRA1 GDNF ANOS1
5 inner ear morphogenesis GO:0042472 9.78 SIX1 PAX2 ITGA8 EYA1
6 anatomical structure development GO:0048856 9.77 SIX2 SIX1 EYA1
7 embryonic skeletal system morphogenesis GO:0048704 9.77 SIX2 SIX1 EYA1
8 cell communication GO:0007154 9.76 FREM2 FREM1 FRAS1
9 ureteric bud development GO:0001657 9.72 SIX1 SALL1 RET GDNF EYA1
10 cochlea morphogenesis GO:0090103 9.7 SIX1 PAX2 EYA1
11 middle ear morphogenesis GO:0042474 9.69 SIX2 SIX1 EYA1
12 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.67 SIX1 PAX2 GDNF AGTR2
13 morphogenesis of an epithelium GO:0002009 9.66 FREM2 FRAS1
14 pharyngeal system development GO:0060037 9.65 SIX1 EYA1
15 neuron fate specification GO:0048665 9.65 SIX1 EYA1
16 metanephros development GO:0001656 9.65 SIX2 ITGA8 GREB1L GDNF EYA1
17 enteric nervous system development GO:0048484 9.64 RET GDNF
18 aorta morphogenesis GO:0035909 9.64 SIX1 EYA1
19 organ induction GO:0001759 9.63 SIX1 GDNF
20 outer ear morphogenesis GO:0042473 9.62 SALL1 EYA1
21 glial cell-derived neurotrophic factor receptor signaling pathway GO:0035860 9.62 RET GFRA1
22 metanephric mesenchyme development GO:0072075 9.61 SIX1 PAX2
23 otic vesicle development GO:0071599 9.61 SIX1 EYA1
24 mesodermal cell fate specification GO:0007501 9.61 SIX2 PAX2 EYA1
25 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.58 PAX2 GDNF
26 positive regulation of metanephric glomerulus development GO:0072300 9.58 RET PAX2 AGTR2
27 positive regulation of ureteric bud formation GO:0072107 9.57 SIX1 GDNF
28 ureter maturation GO:0035799 9.56 RET PAX2
29 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.55 SIX1 EYA1
30 regulation of metanephros size GO:0035566 9.54 PAX2 AGTR2
31 kidney development GO:0001822 9.5 UPK3A SIX2 SIX1 SALL1 ITGA8 GREB1L
32 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.46 SIX2 SALL1 PAX2 GDNF
33 branching involved in ureteric bud morphogenesis GO:0001658 9.1 SIX1 SALL1 PAX2 GREB1L GDNF EYA1

Sources for Renal Hypodysplasia/aplasia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....