RHDA1
MCID: RNL100
MIFTS: 61

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 57 74
Renal Agenesis 57 12 75 53 59 74 55 6 15
Renal Adysplasia 57 12 74 29 13 6 72
Renal Aplasia 57 12 74
Hereditary Renal Aplasia 57 12
Rhda1 57 74
Congenital Absence of Kidneys Syndrome 72
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:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:14766
ICD10 33 Q60.2
ICD10 via Orphanet 34 Q60.0 Q60.1 Q60.2
UMLS via Orphanet 73 C0542519 C1609433 C1619700
Orphanet 59 ORPHA411709
UMLS 72 C1609433 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: 411709DefinitionRenal 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 bilateral renal aplasia. An important gene associated with Renal Hypodysplasia/aplasia 1 is ITGA8 (Integrin Subunit Alpha 8). The drugs Calcium and Hormones have been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and testis, and related phenotypes are hypertension and proteinuria

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

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 : 74 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 : 75 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 568)
# Related Disease Score Top Affiliating Genes
1 renal agenesis, bilateral 34.5 RET ITGA8 GREB1L
2 bilateral renal aplasia 32.6 PAX2 ITGA8
3 fraser syndrome 1 32.2 ITGA8 GRIP1 FREM3 FREM2 FREM1 FRAS1
4 oligomeganephronia 32.2 RET PAX2 GDNF
5 renal hypoplasia 32.1 PAX2 FREM2 EYA1
6 cakut 31.9 RET PAX2 GDNF FREM2 FRAS1 EYA1
7 renal hypodysplasia/aplasia 3 31.9 RET GREB1L FREM2 FREM1 FRAS1
8 papillorenal syndrome 31.9 PAX2 EYA1
9 renal dysplasia 31.2 SALL1 PAX2 GDNF
10 chromosome 2q35 duplication syndrome 30.7 GRIP1 FREM2 FRAS1
11 medullary sponge kidney 30.5 RET GDNF
12 anus, imperforate 30.4 SALL1 GREB1L
13 diaphragmatic hernia, congenital 30.2 FREM2 FREM1 FRAS1
14 cryptophthalmos 30.2 GRIP1 FREM2 FREM1 FRAS1
15 branchiootorenal syndrome 1 29.9 SIX1 EYA1
16 branchiootorenal syndrome 29.6 SIX1 SALL1 PAX2 EYA1
17 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 12.6
18 aniridia renal agenesis psychomotor retardation 12.5
19 jejunal atresia with renal adysplasia 12.4
20 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 12.4
21 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 12.4
22 hirschsprung disease with polydactyly, renal agenesis, and deafness 12.4
23 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 12.3
24 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs 12.2
25 bilateral renal agenesis dominant type 12.2
26 double uterus-hemivagina-renal agenesis 12.2
27 bifid nose with or without anorectal and renal anomalies 12.1
28 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 12.0
29 potter's syndrome 11.9
30 costello syndrome 11.8
31 murcs association 11.8
32 congenital anomalies of kidney and urinary tract 2 11.6
33 kallmann syndrome 11.6
34 bladder cancer 11.6
35 nevus, epidermal 11.6
36 angiosarcoma 11.5
37 holzgreve syndrome 11.5
38 santos mateus leal syndrome 11.5
39 sacral defect with anterior meningocele 11.5
40 urogenital adysplasia 11.5
41 acrorenal-mandibular syndrome 11.4
42 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 11.3
43 renal hypodysplasia/aplasia 2 11.3
44 billet bear syndrome 11.2
45 ellis yale winter syndrome 11.2
46 ritscher-schinzel syndrome 1 11.1
47 neurofaciodigitorenal syndrome 11.1
48 short-rib thoracic dysplasia 3 with or without polydactyly 11.1
49 fraser syndrome 2 11.1
50 fraser syndrome 3 11.1

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:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 Occasional (29-5%) HP:0000822
2 proteinuria 59 32 Occasional (29-5%) HP:0000093
3 talipes equinovarus 59 32 Occasional (29-5%) HP:0001762
4 oligohydramnios 59 32 Occasional (29-5%) HP:0001562
5 pulmonary hypoplasia 59 32 Occasional (29-5%) HP:0002089
6 renal agenesis 59 32 Obligate (100%) HP:0000104
7 potter facies 59 32 Occasional (29-5%) HP:0002009
8 hypertelorism 32 HP:0000316
9 low-set ears 32 HP:0000369
10 renal insufficiency 59 Occasional (29-5%)
11 retrognathia 32 HP:0000278
12 primary amenorrhea 32 HP:0000786
13 anal atresia 59 Occasional (29-5%)
14 ventricular septal defect 59 Occasional (29-5%)
15 unilateral renal agenesis 59 Frequent (79-30%)
16 bicornuate uterus 32 HP:0000813
17 renal dysplasia 32 HP:0000110
18 aplasia/hypoplasia of the uterus 59 Occasional (29-5%)
19 absent vas deferens 59 Occasional (29-5%)
20 vaginal atresia 32 HP:0000148
21 ureteral agenesis 59 Frequent (79-30%)
22 bilateral renal agenesis 59 Occasional (29-5%)
23 aplasia/hypoplasia of the bladder 59 Occasional (29-5%)

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

MGI Mouse Phenotypes related to Renal Hypodysplasia/aplasia 1:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.34 CFTR EYA1 FRAS1 FREM1 FREM2 GDNF
2 mortality/aging MP:0010768 10.34 CFTR EYA1 FRAS1 FREM1 FREM2 GDNF
3 cardiovascular system MP:0005385 10.3 EYA1 FRAS1 FREM2 GDNF GREB1L GRIP1
4 digestive/alimentary MP:0005381 10.28 CFTR EYA1 FRAS1 FREM1 GDNF GREB1L
5 endocrine/exocrine gland MP:0005379 10.21 CFTR EYA1 FREM1 GDNF GREB1L HS2ST1
6 nervous system MP:0003631 10.21 EYA1 FREM1 FREM2 GDNF GREB1L GRIP1
7 craniofacial MP:0005382 10.2 CFTR EYA1 FRAS1 FREM1 FREM2 HS2ST1
8 embryo MP:0005380 10.18 EYA1 FREM2 GREB1L GRIP1 IGF2 PAX2
9 renal/urinary system MP:0005367 10.17 EYA1 FRAS1 FREM1 FREM2 GDNF GREB1L
10 limbs/digits/tail MP:0005371 10.11 FRAS1 FREM1 FREM2 GRIP1 HS2ST1 IGF2
11 hearing/vestibular/ear MP:0005377 9.95 EYA1 FREM2 ITGA8 PAX2 SALL1 SIX1
12 muscle MP:0005369 9.95 EYA1 FREM1 FREM2 GDNF IGF2 RET
13 reproductive system MP:0005389 9.91 CFTR EYA1 FREM1 FREM2 GDNF GREB1L
14 respiratory system MP:0005388 9.85 CFTR EYA1 FRAS1 FREM1 FREM2 GREB1L
15 skeleton MP:0005390 9.65 EYA1 FRAS1 FREM1 FREM2 HS2ST1 IGF2
16 vision/eye MP:0005391 9.32 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 Hormones Phase 1
3 Pharmaceutical Solutions Phase 1
4 Calcium, Dietary 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:

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

Publications for Renal Hypodysplasia/aplasia 1

Articles related to Renal Hypodysplasia/aplasia 1:

(show top 50) (show all 1872)
# Title Authors PMID Year
1
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans. 38 8 71
24439109 2014
2
Renal aplasia in humans is associated with RET mutations. 9 38 71
18252215 2008
3
Renal dysplasia, megalocystis, and sirenomelia in four siblings. 38 8
8475459 1993
4
Bilateral renal agenesis in three consecutive siblings. 38 8
3317388 1987
5
Renal agenesis in British Columbia. 38 8
4003440 1985
6
A pedigree study of perinatally lethal renal disease. 38 8
3886908 1985
7
Familial nature of congenital absence and severe dysgenesis of both kidneys. 38 8
6717505 1984
8
Hereditary renal adysplasia. 38 8
6741530 1984
9
Concordant monozygotic twins with bilateral renal agenesis. 38 8
6694189 1984
10
A family study of renal agenesis. 38 8
469895 1979
11
Bilateral renal agenesis in 2 male sibs born to consanguineous parents. 38 8
712765 1978
12
Familial renal agenesis and total dysplasia. 38 8
4413435 1974
13
Familial aggregation in bilateral renal agenesis. 38 8
4829427 1974
14
Familial bilateral renal agenesis and hereditary renal adysplasia. 38 8
4744207 1973
15
Bilateral renal agenesis in two female siblings. 38 8
5539818 1971
16
Facial characteristics of infants with bilateral renal agenesis. 38 8
20984673 1946
17
Copy-number disorders are a common cause of congenital kidney malformations. 8
23159250 2012
18
FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man. 71
22698282 2012
19
De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. 71
15888565 2005
20
De novo translocation (1; 2)(q32; p25) associated with bilateral renal dysplasia. 8
12694239 2003
21
Integrin alpha8beta1 is critically important for epithelial-mesenchymal interactions during kidney morphogenesis. 8
9054500 1997
22
Potter's syndrome in the second trimester--prenatal screening and pathological findings in 60 cases of oligohydramnios sequence. 8
7544896 1995
23
Renal ultrasound examination of parents in dominantly inherited renal adysplasia--a note of caution. 8
3287926 1988
24
Genetics, pathoanatomy and prenatal diagnosis of Potter I syndrome and other urogenital tract diseases. 8
7151297 1982
25
The association of bilateral and unilateral renal aplasia in the same family. 8
4797640 1973
26
A familial syndrome of renal, genital, and middle ear anomalies. 8
5634940 1968
27
NEWBORN AFTER PROLONGED LEAKAGE OF LIQUOR AMNII. 8
14171064 1964
28
Bilateral absence of the kidneys and related congenital anomalies. 8
14354552 1954
29
Bilateral agenesis of the kidneys in two consecutive infants. 8
13138668 1954
30
Renal aplasia in sisters. 8
12984947 1952
31
Correlation between CFTR gene mutations in Iranian men with congenital absence of the vas deferens and anatomical genital phenotype. 9 38
17673436 2008
32
Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome. 9 38
17603054 2007
33
Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development. 9 38
16670092 2006
34
Critical and distinct roles for key RET tyrosine docking sites in renal development. 9 38
16452504 2006
35
Renal hypoplasia: lessons from Pax2. 9 38
16273412 2006
36
Implication of genetic variations in congenital obstructive nephropathy. 9 38
16133060 2005
37
[Congenital absence of the vas deferens]. 9 38
15562795 2004
38
Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome. 9 38
15571757 2004
39
A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. 9 38
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. 9 38
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. 9 38
11119745 2000
42
Renal abnormalities in patients with Kallmann syndrome. 9 38
10210557 1999
43
X-linked Kallmann syndrome and renal agenesis occurring together and independently in a large Australian family. 9 38
10076881 1999
44
Expression of the RET proto-oncogene in human embryos. 9 38
9880212 1998
45
Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. 9 38
8896568 1996
46
Incidence of Congenital Spinal Abnormalities Among Pediatric Patients and Their Association With Scoliosis and Systemic Anomalies. 38
31393300 2019
47
Minimally Invasive Endoscopic Approach for Management of OHVIRA Syndrome. 38
31391743 2019
48
Tubo-Ovarian Abscesses in Nonsexually Active Adolescent Females: A Large Case Series. 38
31196784 2019
49
Prenatal detection of isolated bilateral hyperechogenic kidneys: Etiologies and outcomes. 38
30650191 2019
50
Differential methylation as a diagnostic biomarker of rare renal diseases: a systematic review. 38
31419951 2019

Variations for Renal Hypodysplasia/aplasia 1

ClinVar genetic disease variations for Renal Hypodysplasia/aplasia 1:

6 (show top 50) (show all 126)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ITGA8 NM_003638.3(ITGA8): c.537C> A (p.Ser179Arg) single nucleotide variant Pathogenic rs748467820 10:15726034-15726034 10:15684035-15684035
2 ITGA8 NM_003638.3(ITGA8): c.2982+2T> C single nucleotide variant Pathogenic rs587777279 10:15573047-15573047 10:15531048-15531048
3 ITGA8 NM_003638.3(ITGA8): c.1622_1626del (p.Glu541fs) deletion Pathogenic rs587777280 10:15649814-15649818 10:15607815-15607819
4 ITGA8 NM_003638.3(ITGA8): c.1219G> A (p.Gly407Arg) single nucleotide variant Pathogenic rs374664941 10:15686209-15686209 10:15644210-15644210
5 TMCO1 NM_019026.4(TMCO1): c.616C> T (p.Arg206Ter) single nucleotide variant Pathogenic 1:165712409-165712409 1:165743172-165743172
6 RET NM_020630.5(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 10:43614996-43614996 10:43119548-43119548
7 RET NM_020630.5(RET): c.2372A> T (p.Tyr791Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs77724903 10:43613908-43613908 10:43118460-43118460
8 RET NM_020630.5(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs17158558 10:43620335-43620335 10:43124887-43124887
9 RET NM_020630.5(RET): c.874G> A (p.Val292Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34682185 10:43601830-43601830 10:43106382-43106382
10 RET NM_020630.5(RET): c.1760-12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs377767392 10:43608992-43608992 10:43113544-43113544
11 RET NM_020630.5(RET): c.2071G> A (p.Gly691Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs1799939 10:43610119-43610119 10:43114671-43114671
12 RET NM_020630.5(RET): c.597C> T (p.Asn199=) single nucleotide variant Conflicting interpretations of pathogenicity rs55810667 10:43598049-43598049 10:43102601-43102601
13 RET NM_020630.5(RET): c.693C> T (p.Arg231=) single nucleotide variant Conflicting interpretations of pathogenicity rs576806329 10:43600467-43600467 10:43105019-43105019
14 RET NM_020630.5(RET): c.957C> A (p.Leu319=) single nucleotide variant Conflicting interpretations of pathogenicity rs149926238 10:43601913-43601913 10:43106465-43106465
15 RET NM_020630.5(RET): c.2988G> A (p.Pro996=) single nucleotide variant Conflicting interpretations of pathogenicity rs145798106 10:43620379-43620379 10:43124931-43124931
16 RET NM_020630.5(RET): c.2052G> A (p.Pro684=) single nucleotide variant Conflicting interpretations of pathogenicity rs145122337 10:43610100-43610100 10:43114652-43114652
17 RET NM_020630.5(RET): c.432C> T (p.Arg144=) single nucleotide variant Conflicting interpretations of pathogenicity rs756999107 10:43597884-43597884 10:43102436-43102436
18 RET NM_020630.5(RET): c.1879+14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs532810255 10:43609137-43609137 10:43113689-43113689
19 RET NM_020630.5(RET): c.2070C> T (p.Ser690=) single nucleotide variant Conflicting interpretations of pathogenicity rs201550433 10:43610118-43610118 10:43114670-43114670
20 RET NM_020975.6(RET): c.*1797T> C single nucleotide variant Uncertain significance rs886047013 10:43625514-43625514 10:43130066-43130066
21 RET NM_020975.6(RET): c.*538G> T single nucleotide variant Uncertain significance rs886046997 10:43624255-43624255 10:43128807-43128807
22 RET NM_020975.6(RET): c.*1212C> T single nucleotide variant Uncertain significance rs551902553 10:43624929-43624929 10:43129481-43129481
23 RET NM_020975.6(RET): c.*1233T> C single nucleotide variant Uncertain significance rs886047007 10:43624950-43624950 10:43129502-43129502
24 RET NM_020630.5(RET): c.2050C> T (p.Pro684Ser) single nucleotide variant Uncertain significance rs141347316 10:43610098-43610098 10:43114650-43114650
25 RET NM_020630.5(RET): c.596A> G (p.Asn199Ser) single nucleotide variant Uncertain significance rs886046986 10:43598048-43598048 10:43102600-43102600
26 RET NM_020630.5(RET): c.1162G> A (p.Val388Ile) single nucleotide variant Uncertain significance rs776223166 10:43604577-43604577 10:43109129-43109129
27 UPK3A NM_006953.4(UPK3A): c.202G> A (p.Asp68Asn) single nucleotide variant Uncertain significance rs145186308 22:45681971-45681971 22:45286090-45286090
28 RET NM_020630.5(RET): c.-158G> A single nucleotide variant Uncertain significance rs886046984 10:43572549-43572549 10:43077101-43077101
29 RET NM_020975.6(RET): c.*1644G> C single nucleotide variant Uncertain significance rs117119161 10:43625361-43625361 10:43129913-43129913
30 RET NM_020630.5(RET): c.-187C> A single nucleotide variant Uncertain significance rs886046983 10:43572520-43572520 10:43077072-43077072
31 RET NM_020630.5(RET): c.220G> A (p.Gly74Ser) single nucleotide variant Uncertain significance rs764938319 10:43596053-43596053 10:43100605-43100605
32 RET NM_020630.5(RET): c.1420C> T (p.Arg474Trp) single nucleotide variant Uncertain significance rs775842917 10:43606811-43606811 10:43111363-43111363
33 RET NM_020630.5(RET): c.2467G> A (p.Gly823Arg) single nucleotide variant Uncertain significance rs138847998 10:43615053-43615053 10:43119605-43119605
34 RET NM_020630.5(RET): c.2580G> A (p.Gln860=) single nucleotide variant Uncertain significance rs886046988 10:43615166-43615166 10:43119718-43119718
35 RET NM_020630.5(RET): c.2876G> A (p.Arg959Gln) single nucleotide variant Uncertain significance rs745650861 10:43619193-43619193 10:43123745-43123745
36 RET NM_020975.6(RET): c.*1278del deletion Uncertain significance rs886047008 10:43624995-43624995 10:43129547-43129547
37 RET NM_020975.6(RET): c.*1337A> T single nucleotide variant Uncertain significance rs886047009 10:43625054-43625054 10:43129606-43129606
38 RET NM_020975.6(RET): c.*1348G> A single nucleotide variant Uncertain significance rs149252070 10:43625065-43625065 10:43129617-43129617
39 RET NM_020975.6(RET): c.*1646T> G single nucleotide variant Uncertain significance rs886047011 10:43625363-43625363 10:43129915-43129915
40 RET NM_020975.6(RET): c.*1797T> G single nucleotide variant Uncertain significance rs886047013 10:43625514-43625514 10:43130066-43130066
41 UPK3A NM_006953.4(UPK3A): c.90C> T (p.Phe30=) single nucleotide variant Uncertain significance rs199656309 22:45681859-45681859 22:45285978-45285978
42 UPK3A NM_006953.4(UPK3A): c.332G> A (p.Ser111Asn) single nucleotide variant Uncertain significance rs765876533 22:45683176-45683176 22:45287295-45287295
43 RET NM_020975.6(RET): c.*600delinsTT indel Uncertain significance rs886046999 10:43624317-43624317 10:43128869-43128869
44 RET NM_020975.6(RET): c.*749dup duplication Uncertain significance rs886047000 10:43624466-43624466 10:43129018-43129018
45 RET NM_020975.6(RET): c.*763C> T single nucleotide variant Uncertain significance rs886047001 10:43624480-43624480 10:43129032-43129032
46 RET NM_020975.6(RET): c.*1020G> T single nucleotide variant Uncertain significance rs886047004 10:43624737-43624737 10:43129289-43129289
47 RET NM_020975.6(RET): c.*1103C> T single nucleotide variant Uncertain significance rs886047005 10:43624820-43624820 10:43129372-43129372
48 UPK3A NM_006953.4(UPK3A): c.560G> A (p.Arg187His) single nucleotide variant Uncertain significance rs140649681 22:45685013-45685013 22:45289132-45289132
49 UPK3A NM_006953.4(UPK3A): c.*26C> T single nucleotide variant Uncertain significance rs570266965 22:45691626-45691626 22:45295745-45295745
50 RET NM_020630.5(RET): c.1618A> G (p.Arg540Gly) single nucleotide variant Uncertain significance rs543376293 10:43607642-43607642 10:43112194-43112194

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

74
# 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

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 FREM3 FREM2 FREM1 FRAS1

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.78 SIX1 SALL1 ITGA8 GREB1L
2 inner ear morphogenesis GO:0042472 9.67 SIX1 PAX2 ITGA8 EYA1
3 anatomical structure development GO:0048856 9.65 SIX1 EYA1
4 morphogenesis of an epithelium GO:0002009 9.64 FREM2 FRAS1
5 middle ear morphogenesis GO:0042474 9.63 SIX1 EYA1
6 pharyngeal system development GO:0060037 9.63 SIX1 EYA1
7 neuron fate specification GO:0048665 9.62 SIX1 EYA1
8 aorta morphogenesis GO:0035909 9.62 SIX1 EYA1
9 cell communication GO:0007154 9.62 FREM3 FREM2 FREM1 FRAS1
10 enteric nervous system development GO:0048484 9.61 RET GDNF
11 organ induction GO:0001759 9.61 SIX1 GDNF
12 cochlea morphogenesis GO:0090103 9.61 SIX1 PAX2 EYA1
13 outer ear morphogenesis GO:0042473 9.6 SALL1 EYA1
14 metanephric mesenchyme development GO:0072075 9.59 SIX1 PAX2
15 otic vesicle development GO:0071599 9.58 SIX1 EYA1
16 mesodermal cell fate specification GO:0007501 9.58 PAX2 EYA1
17 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.58 SIX1 PAX2 GDNF
18 ureter maturation GO:0035799 9.55 RET PAX2
19 positive regulation of ureteric bud formation GO:0072107 9.54 SIX1 GDNF
20 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.52 SIX1 EYA1
21 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.51 PAX2 GDNF
22 positive regulation of metanephric glomerulus development GO:0072300 9.49 RET PAX2
23 metanephros development GO:0001656 9.46 ITGA8 GREB1L GDNF EYA1
24 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.43 SALL1 PAX2 GDNF
25 ureteric bud development GO:0001657 9.35 SIX1 SALL1 RET GDNF EYA1
26 branching involved in ureteric bud morphogenesis GO:0001658 9.1 SIX1 SALL1 PAX2 GREB1L GDNF EYA1
27 positive regulation of transcription by RNA polymerase II GO:0045944 10.12 SIX1 SALL1 PAX2 IGF2 GDNF EYA1
28 multicellular organism development GO:0007275 10.06 SIX1 PAX2 ITGA8 IGF2 GREB1L FREM2
29 positive regulation of transcription, DNA-templated GO:0045893 10.04 SIX1 SALL1 RET PAX2 GRIP1 EYA1
30 cell adhesion GO:0007155 10.03 RET ITGA8 FREM3 FREM2 FREM1 ANOS1

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....