RHDA1
MCID: RNL100
MIFTS: 64

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
Renal Agenesis 56 12 74 52 58 73 54 6 15
Renal Adysplasia 56 12 73 29 13 6 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 Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Calcium and Pharmaceutical Solutions 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 586)
# Related Disease Score Top Affiliating Genes
1 renal agenesis, bilateral 34.7 RET ITGA8 GREB1L
2 congenital anomalies of kidney and urinary tract 2 33.3 PAX2 EYA1 AGTR2
3 kallmann syndrome 33.0 PROKR2 PAX2 FGF8 ANOS1
4 fraser syndrome 1 32.7 SIX2 SIX1 SALL1 PAX2 ITGA8 GRIP1
5 bilateral renal aplasia 32.6 PAX2 ITGA8
6 renal hypodysplasia/aplasia 3 32.5 TMCO1 RET GREB1L FREM2 FREM1 FRAS1
7 oligomeganephronia 32.2 PAX2 EYA1
8 renal hypoplasia 32.2 SIX2 SIX1 SALL1 PAX2 GDNF FREM2
9 cakut 32.0 SIX2 SIX1 SALL1 RET PAX2 ITGA8
10 papillorenal syndrome 31.8 SIX2 SIX1 SALL1 PAX2 GDNF FREM2
11 renal dysplasia 31.5 SALL1 PAX2 GDNF
12 multicystic dysplastic kidney 31.3 PAX2 AGTR2
13 cryptorchidism, unilateral or bilateral 31.0 TMCO1 PROKR2 FGF8 ANOS1
14 anus, imperforate 30.9 SALL1 FREM2 FRAS1 FGF8
15 kidney disease 30.9 SIX1 RET PAX2 ITGA8 EYA1 CFTR
16 multiple endocrine neoplasia, type iia 30.8 RET GFRA1 GDNF
17 thyroid carcinoma, familial medullary 30.8 RET GFRA1 GDNF
18 chromosome 2q35 duplication syndrome 30.8 SALL1 GRIP1 FREM2 FREM1 FRAS1 FGF8
19 cryptophthalmos 30.8 GRIP1 FREM2 FREM1 FRAS1
20 hemifacial microsomia 30.7 SALL1 FREM1 FGF8
21 hypogonadotropism 30.7 PROKR2 ANOS1
22 vesicoureteral reflux 1 30.6 SIX2 SIX1 SALL1 RET PAX2 GDNF
23 medullary sponge kidney 30.6 RET GDNF
24 diaphragmatic hernia, congenital 30.5 FREM2 FREM1 FRAS1
25 hirschsprung disease 1 30.5 RET PROKR2 GFRA1 GDNF
26 wilms tumor 1 30.5 SIX2 SIX1 PAX2 EYA1
27 coloboma of macula 30.5 SALL1 PROKR2 PAX2 FREM2 FREM1 FRAS1
28 megacolon 30.4 RET GFRA1 GDNF
29 branchiootorenal syndrome 1 30.4 SIX1 EYA1
30 synostosis 30.4 FREM2 FREM1 FRAS1 FGF8
31 branchiootorenal syndrome 30.1 SIX2 SIX1 SALL1 PAX2 FREM2 FRAS1
32 cleft palate, isolated 29.8 TMCO1 FREM2 FRAS1 FGF8
33 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 12.6
34 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 12.6
35 jejunal atresia with renal adysplasia 12.4
36 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 12.4
37 hirschsprung disease with polydactyly, renal agenesis, and deafness 12.4
38 double uterus-hemivagina-renal agenesis 12.3
39 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 12.3
40 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs 12.3
41 bilateral renal agenesis dominant type 12.2
42 bifid nose with or without anorectal and renal anomalies 12.1
43 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 12.0
44 potter's syndrome 11.9
45 costello syndrome 11.8
46 bladder cancer 11.6
47 nevus, epidermal 11.6
48 schimmelpenning-feuerstein-mims syndrome 11.5
49 holzgreve syndrome 11.5
50 santos mateus leal syndrome 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 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
4 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
5 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
6 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
7 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
8 oligohydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001562
9 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
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 low-set ears 31 HP:0000369
19 retrognathia 31 HP:0000278
20 primary amenorrhea 31 HP:0000786
21 bicornuate uterus 31 HP:0000813
22 renal dysplasia 31 HP:0000110
23 vaginal atresia 31 HP:0000148

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 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.43 AGTR2 CFTR EYA1 FGF8 FRAS1 FREM1
2 cardiovascular system MP:0005385 10.39 AGTR2 EYA1 FGF8 FRAS1 FREM2 GDNF
3 growth/size/body region MP:0005378 10.39 AGTR2 CFTR EYA1 FGF8 FRAS1 FREM1
4 cellular MP:0005384 10.38 AGTR2 EYA1 FGF8 FRAS1 GDNF GFRA1
5 behavior/neurological MP:0005386 10.36 AGTR2 CFTR EYA1 FGF8 GDNF GFRA1
6 digestive/alimentary MP:0005381 10.33 AGTR2 CFTR EYA1 FGF8 FRAS1 FREM1
7 nervous system MP:0003631 10.31 AGTR2 EYA1 FGF8 FREM1 FREM2 GDNF
8 endocrine/exocrine gland MP:0005379 10.26 AGTR2 CFTR EYA1 FGF8 FREM1 GDNF
9 embryo MP:0005380 10.24 EYA1 FGF8 FREM2 GFRA1 GREB1L GRIP1
10 renal/urinary system MP:0005367 10.22 AGTR2 EYA1 FGF8 FRAS1 FREM1 FREM2
11 craniofacial MP:0005382 10.16 CFTR EYA1 FGF8 FRAS1 FREM1 FREM2
12 muscle MP:0005369 10.09 AGTR2 EYA1 FGF8 FREM1 FREM2 GDNF
13 limbs/digits/tail MP:0005371 10.08 FGF8 FRAS1 FREM1 FREM2 GRIP1 RET
14 hearing/vestibular/ear MP:0005377 10.04 EYA1 FGF8 FREM2 ITGA8 PAX2 SALL1
15 reproductive system MP:0005389 10 CFTR EYA1 FGF8 FREM1 FREM2 GDNF
16 normal MP:0002873 9.97 CFTR EYA1 FGF8 FREM1 GFRA1 RET
17 respiratory system MP:0005388 9.85 CFTR EYA1 FGF8 FRAS1 FREM1 FREM2
18 skeleton MP:0005390 9.65 AGTR2 EYA1 FGF8 FRAS1 FREM1 FREM2
19 vision/eye MP:0005391 9.32 CFTR EYA1 FGF8 FRAS1 FREM1 FREM2

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 Pharmaceutical Solutions Phase 1
3 Calcium, Dietary Phase 1
4 Hormones Phase 1
5 Anesthetics, Local
6 Anesthetics

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 Adysplasia 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 1890)
# 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. 54 6 61
18252215 2008
3
Renal dysplasia, megalocystis, and sirenomelia in four siblings. 56 61
8475459 1993
4
Bilateral renal agenesis in three consecutive siblings. 61 56
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. 61 56
6717505 1984
8
Hereditary renal adysplasia. 56 61
6741530 1984
9
Concordant monozygotic twins with bilateral renal agenesis. 61 56
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. 56 61
4413435 1974
13
Familial aggregation in bilateral renal agenesis. 61 56
4829427 1974
14
Familial bilateral renal agenesis and hereditary renal adysplasia. 61 56
4744207 1973
15
Bilateral renal agenesis in two female siblings. 61 56
5539818 1971
16
Facial characteristics of infants with bilateral renal agenesis. 61 56
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. 61 54
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. 61 54
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. 54 61
15571757 2004
39
A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. 61 54
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. 54 61
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. 54 61
9880212 1998
45
Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. 61 54
8896568 1996
46
Novel approach to locating a hypoplastic kidney in a unique variant of uterine didelphys syndrome presenting with continuous incontinence. 61
31843768 2019
47
Herlyn-Werner-Wunderlich syndrome with cervical atresia complicated by ovarian endometrioma: A case report. 61
31814219 2019
48
Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern. 61
31840946 2019
49
Novel ADGRG2 truncating variants in patients with X-linked Congenital Absence of Vas Deferens. 61
31845523 2019
50
Classifying seminal vesicle cysts in the diagnosis and treatment of Zinner syndrome: A report of six cases and review of available literature. 61
31729082 2019

Variations for Renal Hypodysplasia/aplasia 1

ClinVar genetic disease variations for Renal Hypodysplasia/aplasia 1:

6 (show top 50) (show all 126) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ITGA8 NM_003638.3(ITGA8):c.2982+2T>CSNV Pathogenic 126498 rs587777279 10:15573047-15573047 10:15531048-15531048
2 ITGA8 NM_003638.3(ITGA8):c.1622_1626del (p.Glu541fs)deletion Pathogenic 126499 rs587777280 10:15649814-15649818 10:15607815-15607819
3 ITGA8 NM_003638.3(ITGA8):c.1219G>A (p.Gly407Arg)SNV Pathogenic 126500 rs374664941 10:15686209-15686209 10:15644210-15644210
4 TMCO1 NM_019026.4(TMCO1):c.616C>T (p.Arg206Ter)SNV Pathogenic 598963 1:165712409-165712409 1:165743172-165743172
5 ITGA8 NM_003638.3(ITGA8):c.537C>A (p.Ser179Arg)SNV Pathogenic 522875 rs748467820 10:15726034-15726034 10:15684035-15684035
6 RET NM_020975.6(RET):c.2410G>A (p.Val804Met)SNV Pathogenic/Likely pathogenic 37102 rs79658334 10:43614996-43614996 10:43119548-43119548
7 RET NM_020975.6(RET):c.874G>A (p.Val292Met)SNV Conflicting interpretations of pathogenicity 24880 rs34682185 10:43601830-43601830 10:43106382-43106382
8 RET NM_020975.6(RET):c.1760-12G>ASNV Conflicting interpretations of pathogenicity 24889 rs377767392 10:43608992-43608992 10:43113544-43113544
9 RET NM_020975.6(RET):c.2071G>A (p.Gly691Ser)SNV Conflicting interpretations of pathogenicity 24934 rs1799939 10:43610119-43610119 10:43114671-43114671
10 RET NM_020975.6(RET):c.597C>T (p.Asn199=)SNV Conflicting interpretations of pathogenicity 136121 rs55810667 10:43598049-43598049 10:43102601-43102601
11 RET NM_020975.6(RET):c.693C>T (p.Arg231=)SNV Conflicting interpretations of pathogenicity 136123 rs576806329 10:43600467-43600467 10:43105019-43105019
12 RET NM_020975.6(RET):c.957C>A (p.Leu319=)SNV Conflicting interpretations of pathogenicity 184139 rs149926238 10:43601913-43601913 10:43106465-43106465
13 RET NM_020975.6(RET):c.2052G>A (p.Pro684=)SNV Conflicting interpretations of pathogenicity 241343 rs145122337 10:43610100-43610100 10:43114652-43114652
14 RET NM_020975.6(RET):c.2988G>A (p.Pro996=)SNV Conflicting interpretations of pathogenicity 215914 rs145798106 10:43620379-43620379 10:43124931-43124931
15 RET NM_020975.6(RET):c.2944C>T (p.Arg982Cys)SNV Conflicting interpretations of pathogenicity 13938 rs17158558 10:43620335-43620335 10:43124887-43124887
16 RET NM_020975.6(RET):c.432C>T (p.Arg144=)SNV Conflicting interpretations of pathogenicity 299888 rs756999107 10:43597884-43597884 10:43102436-43102436
17 RET NM_020975.6(RET):c.1879+14G>ASNV Conflicting interpretations of pathogenicity 299895 rs532810255 10:43609137-43609137 10:43113689-43113689
18 RET NM_020975.6(RET):c.2070C>T (p.Ser690=)SNV Conflicting interpretations of pathogenicity 299897 rs201550433 10:43610118-43610118 10:43114670-43114670
19 RET NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)SNV Conflicting interpretations of pathogenicity 13936 rs77724903 10:43613908-43613908 10:43118460-43118460
20 UPK3A NM_006953.4(UPK3A):c.*107T>CSNV Uncertain significance 874 rs558490093 22:45691707-45691707 22:45295826-45295826
21 UPK3A NM_006953.4(UPK3A):c.470C>T (p.Ser157Leu)SNV Uncertain significance 341979 rs200941092 22:45683314-45683314 22:45287433-45287433
22 UPK3A NM_006953.4(UPK3A):c.418G>A (p.Gly140Arg)SNV Uncertain significance 341976 rs139626522 22:45683262-45683262 22:45287381-45287381
23 UPK3A NM_006953.4(UPK3A):c.404G>A (p.Arg135Lys)SNV Uncertain significance 341975 rs147406393 22:45683248-45683248 22:45287367-45287367
24 RET NM_020975.6(RET):c.*1489G>ASNV Uncertain significance 299933 rs535080963 10:43625206-43625206 10:43129758-43129758
25 RET NM_020975.6(RET):c.*1345G>TSNV Uncertain significance 299931 rs886047010 10:43625062-43625062 10:43129614-43129614
26 RET NM_020975.6(RET):c.*509A>GSNV Uncertain significance 299913 rs886046996 10:43624226-43624226 10:43128778-43128778
27 RET NM_020975.6(RET):c.*453G>TSNV Uncertain significance 299910 rs886046993 10:43624170-43624170 10:43128722-43128722
28 RET NM_020975.6(RET):c.*446A>GSNV Uncertain significance 299909 rs886046992 10:43624163-43624163 10:43128715-43128715
29 RET NM_020975.6(RET):c.*368G>TSNV Uncertain significance 299907 rs756051983 10:43624085-43624085 10:43128637-43128637
30 RET NM_020975.6(RET):c.*175C>GSNV Uncertain significance 299904 rs886046990 10:43623892-43623892 10:43128444-43128444
31 UPK3A NM_006953.4(UPK3A):c.202G>A (p.Asp68Asn)SNV Uncertain significance 224348 rs145186308 22:45681971-45681971 22:45286090-45286090
32 RET NM_020975.6(RET):c.334C>T (p.Arg112Cys)SNV Uncertain significance 216726 rs762626209 10:43596167-43596167 10:43100719-43100719
33 UPK3A NM_006953.4(UPK3A):c.209-11C>TSNV Uncertain significance 341970 rs201838809 22:45683042-45683042 22:45287161-45287161
34 RET NM_020975.6(RET):c.*1797T>CSNV Uncertain significance 299943 rs886047013 10:43625514-43625514 10:43130066-43130066
35 RET NM_020975.6(RET):c.*1644G>CSNV Uncertain significance 299939 rs117119161 10:43625361-43625361 10:43129913-43129913
36 RET NM_020975.6(RET):c.*600delinsTTindel Uncertain significance 299917 rs886046999 10:43624317-43624317 10:43128869-43128869
37 RET NM_020975.6(RET):c.*749dupduplication Uncertain significance 299918 rs886047000 10:43624466-43624466 10:43129018-43129018
38 RET NM_020975.6(RET):c.*763C>TSNV Uncertain significance 299919 rs886047001 10:43624480-43624480 10:43129032-43129032
39 RET NM_020975.6(RET):c.*1020G>TSNV Uncertain significance 299922 rs886047004 10:43624737-43624737 10:43129289-43129289
40 RET NM_020975.6(RET):c.*1103C>TSNV Uncertain significance 299923 rs886047005 10:43624820-43624820 10:43129372-43129372
41 UPK3A NM_006953.4(UPK3A):c.560G>A (p.Arg187His)SNV Uncertain significance 341982 rs140649681 22:45685013-45685013 22:45289132-45289132
42 UPK3A NM_006953.4(UPK3A):c.*26C>TSNV Uncertain significance 341988 rs570266965 22:45691626-45691626 22:45295745-45295745
43 UPK3A NM_006953.4(UPK3A):c.704+8C>ASNV Uncertain significance 341984 rs112177270 22:45689202-45689202 22:45293321-45293321
44 UPK3A NM_006953.4(UPK3A):c.*42C>TSNV Uncertain significance 341989 rs746035232 22:45691642-45691642 22:45295761-45295761
45 UPK3A NM_006953.4(UPK3A):c.802T>C (p.Ser268Pro)SNV Uncertain significance 341986 rs886057606 22:45691538-45691538 22:45295657-45295657
46 UPK3A NM_006953.4(UPK3A):c.731C>T (p.Thr244Met)SNV Uncertain significance 341985 rs374008042 22:45691467-45691467 22:45295586-45295586
47 UPK3A NM_006953.4(UPK3A):c.-26C>GSNV Uncertain significance 341967 rs768663033 22:45680869-45680869 22:45284988-45284988
48 RET NM_020975.6(RET):c.2050C>T (p.Pro684Ser)SNV Uncertain significance 299896 rs141347316 10:43610098-43610098 10:43114650-43114650
49 RET NM_020975.6(RET):c.*538G>TSNV Uncertain significance 299914 rs886046997 10:43624255-43624255 10:43128807-43128807
50 RET NM_020975.6(RET):c.*1212C>TSNV Uncertain significance 299927 rs551902553 10:43624929-43624929 10:43129481-43129481

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 11.33 PAX2 GDNF FGF8
3 10.38 RET GFRA1 GDNF
4 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 40)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.13 SIX2 SIX1 PAX2 ITGA8 GREB1L FREM2
2 cell adhesion GO:0007155 10.07 RET ITGA8 FREM2 FREM1 ANOS1
3 positive regulation of transcription, DNA-templated GO:0045893 10.07 SIX1 SALL1 RET PAX2 GRIP1 EYA1
4 MAPK cascade GO:0000165 9.95 RET GFRA1 GDNF FGF8
5 axon guidance GO:0007411 9.94 RET GFRA1 GDNF ANOS1
6 anatomical structure morphogenesis GO:0009653 9.85 SIX2 FGF8 EYA1
7 outflow tract morphogenesis GO:0003151 9.8 SIX1 FGF8 EYA1
8 inner ear morphogenesis GO:0042472 9.8 SIX1 PAX2 ITGA8 FGF8 EYA1
9 kidney development GO:0001822 9.8 SIX2 SIX1 SALL1 ITGA8 GREB1L FGF8
10 embryonic skeletal system morphogenesis GO:0048704 9.79 SIX2 SIX1 EYA1
11 cell communication GO:0007154 9.79 FREM2 FREM1 FRAS1
12 anatomical structure development GO:0048856 9.78 SIX2 SIX1 EYA1
13 cochlea morphogenesis GO:0090103 9.73 SIX1 PAX2 EYA1
14 middle ear morphogenesis GO:0042474 9.72 SIX2 SIX1 EYA1
15 pharyngeal system development GO:0060037 9.71 SIX1 FGF8 EYA1
16 aorta morphogenesis GO:0035909 9.69 SIX1 FGF8 EYA1
17 morphogenesis of an epithelium GO:0002009 9.68 FREM2 FRAS1
18 male genitalia development GO:0030539 9.68 GREB1L FGF8
19 neuron fate specification GO:0048665 9.67 SIX1 EYA1
20 generation of neurons GO:0048699 9.67 SIX1 FGF8
21 organ induction GO:0001759 9.67 SIX1 GDNF FGF8
22 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.67 SIX1 PAX2 GDNF AGTR2
23 gonad development GO:0008406 9.66 SALL1 FGF8
24 mesonephros development GO:0001823 9.66 PAX2 FGF8
25 enteric nervous system development GO:0048484 9.65 RET GDNF
26 outer ear morphogenesis GO:0042473 9.65 SALL1 EYA1
27 ureteric bud development GO:0001657 9.65 SIX1 SALL1 RET GDNF EYA1
28 glial cell-derived neurotrophic factor receptor signaling pathway GO:0035860 9.64 RET GFRA1
29 metanephric mesenchyme development GO:0072075 9.63 SIX1 PAX2
30 otic vesicle development GO:0071599 9.63 SIX1 EYA1
31 mesodermal cell fate specification GO:0007501 9.63 SIX2 PAX2 EYA1
32 positive regulation of metanephric glomerulus development GO:0072300 9.61 RET PAX2 AGTR2
33 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.6 PAX2 GDNF
34 positive regulation of ureteric bud formation GO:0072107 9.59 SIX1 GDNF
35 ureter maturation GO:0035799 9.58 RET PAX2
36 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.58 SIX1 EYA1
37 regulation of metanephros size GO:0035566 9.57 PAX2 AGTR2
38 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.46 SIX2 SALL1 PAX2 GDNF
39 metanephros development GO:0001656 9.43 SIX2 ITGA8 GREB1L GDNF FGF8 EYA1
40 branching involved in ureteric bud morphogenesis GO:0001658 9.17 SIX1 SALL1 PAX2 GREB1L GDNF FGF8

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
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