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RHDA1
MCID: RNL100
MIFTS: 63

Renal Hypodysplasia/aplasia 1 (RHDA1)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Renal Hypodysplasia/aplasia 1

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MalaCards integrated aliases for Renal Hypodysplasia/aplasia 1:

Name: Renal Hypodysplasia/aplasia 1 56 73 6
Renal Agenesis 56 12 74 52 58 73 54 6 15
Renal Adysplasia 56 12 73 29 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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
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
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Summaries for Renal Hypodysplasia/aplasia 1

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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 thyroid, 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...

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Related Diseases for Renal Hypodysplasia/aplasia 1

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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 593)
# 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 bilateral renal aplasia 32.6 PAX2 ITGA8
4 fraser syndrome 1 32.6 SIX2 SIX1 SALL1 PAX2 ITGA8 GRIP1
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 31.9 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 31.3 PAX2 AGTR2
12 urinary tract obstruction 31.1 UPK3A PAX2 GDNF
13 hydronephrosis 30.9 UPK3A PAX2 AGTR2
14 anus, imperforate 30.9 SALL1 FREM2 FRAS1 FGF8
15 kidney disease 30.8 SIX1 RET PAX2 ITGA8 EYA1 CFTR
16 cryptophthalmos 30.7 GRIP1 FREM2 FREM1 FRAS1
17 chromosome 2q35 duplication syndrome 30.7 SALL1 GRIP1 FREM2 FREM1 FRAS1 FGF8
18 hemifacial microsomia 30.7 SALL1 FREM1 FGF8
19 medullary sponge kidney 30.6 RET GDNF
20 diaphragmatic hernia, congenital 30.5 FREM2 FREM1 FRAS1
21 coloboma of macula 30.5 SALL1 PAX2 FREM2 FREM1 FRAS1 FGF8
22 wilms tumor 1 30.5 SIX2 SIX1 PAX2 EYA1
23 branchiootorenal syndrome 1 30.4 SIX1 EYA1
24 vesicoureteral reflux 1 30.4 UPK3A SIX2 SIX1 SALL1 RET PAX2
25 cryptorchidism, unilateral or bilateral 30.3 TMCO1 FGF8 ANOS1
26 synostosis 30.3 FREM2 FREM1 FRAS1 FGF8
27 branchiootorenal syndrome 29.9 UPK3A SIX2 SIX1 SALL1 PAX2 FREM2
28 cleft palate, isolated 29.9 TMCO1 FREM2 FRAS1 FGF8
29 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 12.6
30 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 12.6
31 jejunal atresia with renal adysplasia 12.4
32 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 12.4
33 hirschsprung disease with polydactyly, renal agenesis, and deafness 12.4
34 double uterus-hemivagina-renal agenesis 12.3
35 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 12.3
36 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs 12.3
37 bilateral renal agenesis dominant type 12.2
38 bifid nose with or without anorectal and renal anomalies 12.1
39 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 12.0
40 potter's syndrome 11.9
41 costello syndrome 11.8
42 kallmann syndrome 11.6
43 bladder cancer 11.6
44 nevus, epidermal 11.6
45 schimmelpenning-feuerstein-mims syndrome 11.5
46 holzgreve syndrome 11.5
47 santos mateus leal syndrome 11.5
48 angiosarcoma 11.5
49 sacral defect with anterior meningocele 11.5
50 urogenital adysplasia 11.5

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



Diseases related to Renal Hypodysplasia/aplasia 1
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Symptoms & Phenotypes for Renal Hypodysplasia/aplasia 1

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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 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
6 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
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 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.38 AGTR2 EYA1 FGF8 FRAS1 FREM2 GDNF
2 mortality/aging MP:0010768 10.36 AGTR2 CFTR EYA1 FGF8 FRAS1 FREM1
3 growth/size/body region MP:0005378 10.34 AGTR2 CFTR EYA1 FGF8 FRAS1 FREM1
4 cellular MP:0005384 10.3 AGTR2 EYA1 FGF8 FRAS1 GDNF ITGA8
5 digestive/alimentary MP:0005381 10.28 AGTR2 CFTR EYA1 FGF8 FRAS1 FREM1
6 renal/urinary system MP:0005367 10.22 AGTR2 EYA1 FGF8 FRAS1 FREM1 FREM2
7 endocrine/exocrine gland MP:0005379 10.21 AGTR2 CFTR EYA1 FGF8 FREM1 GDNF
8 nervous system MP:0003631 10.21 AGTR2 EYA1 FGF8 FREM1 FREM2 GDNF
9 embryo MP:0005380 10.18 EYA1 FGF8 FREM2 GREB1L GRIP1 PAX2
10 craniofacial MP:0005382 10.15 CFTR EYA1 FGF8 FRAS1 FREM1 FREM2
11 limbs/digits/tail MP:0005371 10.06 FGF8 FRAS1 FREM1 FREM2 GRIP1 RET
12 hearing/vestibular/ear MP:0005377 10.02 EYA1 FGF8 FREM2 ITGA8 PAX2 SALL1
13 muscle MP:0005369 10.01 AGTR2 EYA1 FGF8 FREM1 FREM2 GDNF
14 reproductive system MP:0005389 9.96 CFTR EYA1 FGF8 FREM1 FREM2 GDNF
15 respiratory system MP:0005388 9.85 CFTR EYA1 FGF8 FRAS1 FREM1 FREM2
16 skeleton MP:0005390 9.65 AGTR2 EYA1 FGF8 FRAS1 FREM1 FREM2
17 vision/eye MP:0005391 9.32 CFTR EYA1 FGF8 FRAS1 FREM1 FREM2
Sources

Drugs & Therapeutics for Renal Hypodysplasia/aplasia 1

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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 Hormones 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

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Genetic Tests for Renal Hypodysplasia/aplasia 1

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Genetic tests related to Renal Hypodysplasia/aplasia 1:

# Genetic test Affiliating Genes
1 Renal Adysplasia 29 ITGA8
Sources

Anatomical Context for Renal Hypodysplasia/aplasia 1

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

40
Kidney, Uterus, Thyroid, Lung, Heart, Testis, Prostate
Sources

Publications for Renal Hypodysplasia/aplasia 1

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Articles related to Renal Hypodysplasia/aplasia 1:

(show top 50) (show all 1900)
# Title Authors PMID Year
1
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans. 61 56 6
24439109 2014
2
Renal aplasia in humans is associated with RET mutations. 54 61 6
18252215 2008
3
Renal dysplasia, megalocystis, and sirenomelia in four siblings. 61 56
8475459 1993
4
Bilateral renal agenesis in three consecutive siblings. 61 56
3317388 1987
5
Renal agenesis in British Columbia. 61 56
4003440 1985
6
A pedigree study of perinatally lethal renal disease. 61 56
3886908 1985
7
Familial nature of congenital absence and severe dysgenesis of both kidneys. 61 56
6717505 1984
8
Hereditary renal adysplasia. 61 56
6741530 1984
9
Concordant monozygotic twins with bilateral renal agenesis. 61 56
6694189 1984
10
A family study of renal agenesis. 61 56
469895 1979
11
Bilateral renal agenesis in 2 male sibs born to consanguineous parents. 61 56
712765 1978
12
Familial renal agenesis and total dysplasia. 61 56
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. 54 61
17673436 2008
32
Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome. 54 61
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. 54 61
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]. 54 61
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. 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. 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. 54 61
8896568 1996
46
Classifying seminal vesicle cysts in the diagnosis and treatment of Zinner syndrome: A report of six cases and review of available literature. 61
31729082 2020
47
Diagnosis, management, and outcome of obstructed hemivagina and ipsilateral renal agenesis (OHVIRA syndrome): Is there a correlation between MRI findings and outcome? 61
31821975 2020
48
Herlyn-Werner-Wunderlich syndrome with cervical atresia complicated by ovarian endometrioma: A case report. 61
31814219 2020
49
Radial Longitudinal Deficiency: Severity Differences Between U.S. and Japanese Cohorts. 61
31959377 2020
50
Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level. 61
31900751 2020
Sources

Variations for Renal Hypodysplasia/aplasia 1

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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 ITGA8 NM_003638.3(ITGA8):c.537C>A (p.Ser179Arg)SNV Pathogenic 522875 rs748467820 10:15726034-15726034 10:15684035-15684035
5 TMCO1 NM_019026.4(TMCO1):c.616C>T (p.Arg206Ter)SNV Pathogenic 598963 rs765379963 1:165712409-165712409 1:165743172-165743172
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.2372A>T (p.Tyr791Phe)SNV Conflicting interpretations of pathogenicity 13936 rs77724903 10:43613908-43613908 10:43118460-43118460
8 RET NM_020975.6(RET):c.2944C>T (p.Arg982Cys)SNV Conflicting interpretations of pathogenicity 13938 rs17158558 10:43620335-43620335 10:43124887-43124887
9 RET NM_020975.6(RET):c.874G>A (p.Val292Met)SNV Conflicting interpretations of pathogenicity 24880 rs34682185 10:43601830-43601830 10:43106382-43106382
10 RET NM_020975.6(RET):c.1760-12G>ASNV Conflicting interpretations of pathogenicity 24889 rs377767392 10:43608992-43608992 10:43113544-43113544
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.957C>A (p.Leu319=)SNV Conflicting interpretations of pathogenicity 184139 rs149926238 10:43601913-43601913 10:43106465-43106465
13 RET NM_020975.6(RET):c.2988G>A (p.Pro996=)SNV Conflicting interpretations of pathogenicity 215914 rs145798106 10:43620379-43620379 10:43124931-43124931
14 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup)duplication Conflicting interpretations of pathogenicity 95305 rs398124211 X:139586488-139586489 X:140504323-140504324
15 RET NM_020975.6(RET):c.597C>T (p.Asn199=)SNV Conflicting interpretations of pathogenicity 136121 rs55810667 10:43598049-43598049 10:43102601-43102601
16 RET NM_020975.6(RET):c.693C>T (p.Arg231=)SNV Conflicting interpretations of pathogenicity 136123 rs576806329 10:43600467-43600467 10:43105019-43105019
17 RET NM_020975.6(RET):c.2052G>A (p.Pro684=)SNV Conflicting interpretations of pathogenicity 241343 rs145122337 10:43610100-43610100 10:43114652-43114652
18 RET NM_020975.6(RET):c.2847A>G (p.Gly949=)SNV Conflicting interpretations of pathogenicity 299900 rs886046989 10:43619164-43619164 10:43123716-43123716
19 RET NM_020975.6(RET):c.432C>T (p.Arg144=)SNV Conflicting interpretations of pathogenicity 299888 rs756999107 10:43597884-43597884 10:43102436-43102436
20 RET NM_020975.6(RET):c.1879+14G>ASNV Conflicting interpretations of pathogenicity 299895 rs532810255 10:43609137-43609137 10:43113689-43113689
21 RET NM_020975.6(RET):c.2070C>T (p.Ser690=)SNV Conflicting interpretations of pathogenicity 299897 rs201550433 10:43610118-43610118 10:43114670-43114670
22 UPK3A NM_006953.4(UPK3A):c.90C>T (p.Phe30=)SNV Conflicting interpretations of pathogenicity 341969 rs199656309 22:45681859-45681859 22:45285978-45285978
23 UPK3A NM_006953.4(UPK3A):c.332G>A (p.Ser111Asn)SNV Uncertain significance 341973 rs765876533 22:45683176-45683176 22:45287295-45287295
24 RET NM_020975.6(RET):c.*1278deldeletion Uncertain significance 299929 rs886047008 10:43624991-43624991 10:43129543-43129543
25 RET NM_020975.6(RET):c.*1337A>TSNV Uncertain significance 299930 rs886047009 10:43625054-43625054 10:43129606-43129606
26 RET NM_020975.6(RET):c.*1348G>ASNV Uncertain significance 299932 rs149252070 10:43625065-43625065 10:43129617-43129617
27 RET NM_020975.6(RET):c.*1646T>GSNV Uncertain significance 299940 rs886047011 10:43625363-43625363 10:43129915-43129915
28 RET NM_020975.6(RET):c.*1797T>GSNV Uncertain significance 299944 rs886047013 10:43625514-43625514 10:43130066-43130066
29 RET NM_020975.6(RET):c.*538G>TSNV Uncertain significance 299914 rs886046997 10:43624255-43624255 10:43128807-43128807
30 RET NM_020975.6(RET):c.*1212C>TSNV Uncertain significance 299927 rs551902553 10:43624929-43624929 10:43129481-43129481
31 RET NM_020975.6(RET):c.*1233T>CSNV Uncertain significance 299928 rs886047007 10:43624950-43624950 10:43129502-43129502
32 RET NM_020975.6(RET):c.*600delinsTTindel Uncertain significance 299917 rs886046999 10:43624317-43624317 10:43128869-43128869
33 RET NM_020975.6(RET):c.*749dupduplication Uncertain significance 299918 rs886047000 10:43624461-43624462 10:43129013-43129014
34 RET NM_020975.6(RET):c.*763C>TSNV Uncertain significance 299919 rs886047001 10:43624480-43624480 10:43129032-43129032
35 RET NM_020975.6(RET):c.*1020G>TSNV Uncertain significance 299922 rs886047004 10:43624737-43624737 10:43129289-43129289
36 RET NM_020975.6(RET):c.*1103C>TSNV Uncertain significance 299923 rs886047005 10:43624820-43624820 10:43129372-43129372
37 UPK3A NM_006953.4(UPK3A):c.560G>A (p.Arg187His)SNV Uncertain significance 341982 rs140649681 22:45685013-45685013 22:45289132-45289132
38 UPK3A NM_006953.4(UPK3A):c.*26C>TSNV Uncertain significance 341988 rs570266965 22:45691626-45691626 22:45295745-45295745
39 UPK3A NM_006953.4(UPK3A):c.209-11C>TSNV Uncertain significance 341970 rs201838809 22:45683042-45683042 22:45287161-45287161
40 RET NM_020975.6(RET):c.*1797T>CSNV Uncertain significance 299943 rs886047013 10:43625514-43625514 10:43130066-43130066
41 UPK3A NM_006953.4(UPK3A):c.704+8C>ASNV Uncertain significance 341984 rs112177270 22:45689202-45689202 22:45293321-45293321
42 UPK3A NM_006953.4(UPK3A):c.404G>A (p.Arg135Lys)SNV Uncertain significance 341975 rs147406393 22:45683248-45683248 22:45287367-45287367
43 UPK3A NM_006953.4(UPK3A):c.418G>A (p.Gly140Arg)SNV Uncertain significance 341976 rs139626522 22:45683262-45683262 22:45287381-45287381
44 UPK3A NM_006953.4(UPK3A):c.470C>T (p.Ser157Leu)SNV Uncertain significance 341979 rs200941092 22:45683314-45683314 22:45287433-45287433
45 UPK3A NM_006953.4(UPK3A):c.-26C>GSNV Uncertain significance 341967 rs768663033 22:45680869-45680869 22:45284988-45284988
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.802T>C (p.Ser268Pro)SNV Uncertain significance 341986 rs886057606 22:45691538-45691538 22:45295657-45295657
48 UPK3A NM_006953.4(UPK3A):c.*42C>TSNV Uncertain significance 341989 rs746035232 22:45691642-45691642 22:45295761-45295761
49 RET NM_020975.6(RET):c.2050C>T (p.Pro684Ser)SNV Uncertain significance 299896 rs141347316 10:43610098-43610098 10:43114650-43114650
50 RET NM_020975.6(RET):c.*1644G>CSNV Uncertain significance 299939 rs117119161 10:43625361-43625361 10:43129913-43129913

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

Sources

Expression for Renal Hypodysplasia/aplasia 1

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

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

# Super pathways Score Top Affiliating Genes
1
ECM-receptor interaction 36
Show member pathways
 11.12 ITGA8 FREM2 FREM1 FRAS1
2
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.03 PAX2 GDNF FGF8
Sources

GO Terms for Renal Hypodysplasia/aplasia 1

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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 37)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.13 SIX2 SIX1 PAX2 ITGA8 GREB1L FREM2
2 positive regulation of transcription, DNA-templated GO:0045893 10.07 SIX1 SALL1 RET PAX2 GRIP1 EYA1
3 cell adhesion GO:0007155 10.06 RET ITGA8 FREM2 FREM1 ANOS1
4 anatomical structure morphogenesis GO:0009653 9.85 SIX2 FGF8 EYA1
5 outflow tract morphogenesis GO:0003151 9.8 SIX1 FGF8 EYA1
6 inner ear morphogenesis GO:0042472 9.8 SIX1 PAX2 ITGA8 FGF8 EYA1
7 embryonic skeletal system morphogenesis GO:0048704 9.79 SIX2 SIX1 EYA1
8 cell communication GO:0007154 9.79 FREM2 FREM1 FRAS1
9 anatomical structure development GO:0048856 9.78 SIX2 SIX1 EYA1
10 cochlea morphogenesis GO:0090103 9.73 SIX1 PAX2 EYA1
11 middle ear morphogenesis GO:0042474 9.72 SIX2 SIX1 EYA1
12 ureteric bud development GO:0001657 9.72 SIX1 SALL1 RET GDNF EYA1
13 pharyngeal system development GO:0060037 9.71 SIX1 FGF8 EYA1
14 kidney development GO:0001822 9.7 UPK3A SIX2 SIX1 SALL1 ITGA8 GREB1L
15 aorta morphogenesis GO:0035909 9.69 SIX1 FGF8 EYA1
16 morphogenesis of an epithelium GO:0002009 9.67 FREM2 FRAS1
17 male genitalia development GO:0030539 9.67 GREB1L FGF8
18 organ induction GO:0001759 9.67 SIX1 GDNF FGF8
19 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.67 SIX1 PAX2 GDNF AGTR2
20 neuron fate specification GO:0048665 9.66 SIX1 EYA1
21 generation of neurons GO:0048699 9.65 SIX1 FGF8
22 gonad development GO:0008406 9.65 SALL1 FGF8
23 mesonephros development GO:0001823 9.65 PAX2 FGF8
24 enteric nervous system development GO:0048484 9.64 RET GDNF
25 outer ear morphogenesis GO:0042473 9.64 SALL1 EYA1
26 metanephric mesenchyme development GO:0072075 9.63 SIX1 PAX2
27 otic vesicle development GO:0071599 9.63 SIX1 EYA1
28 mesodermal cell fate specification GO:0007501 9.63 SIX2 PAX2 EYA1
29 positive regulation of metanephric glomerulus development GO:0072300 9.61 RET PAX2 AGTR2
30 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.6 PAX2 GDNF
31 positive regulation of ureteric bud formation GO:0072107 9.59 SIX1 GDNF
32 ureter maturation GO:0035799 9.58 RET PAX2
33 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.58 SIX1 EYA1
34 regulation of metanephros size GO:0035566 9.57 PAX2 AGTR2
35 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.56 SIX2 SALL1 PAX2 GDNF
36 metanephros development GO:0001656 9.43 SIX2 ITGA8 GREB1L GDNF FGF8 EYA1
37 branching involved in ureteric bud morphogenesis GO:0001658 9.17 SIX1 SALL1 PAX2 GREB1L GDNF FGF8
Sources

Sources for Renal Hypodysplasia/aplasia 1

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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