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RHDA1
MCID: RNL100
MIFTS: 63

Renal Hypodysplasia/aplasia 1 (RHDA1)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
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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 57 73 28 5
Renal Agenesis 57 11 19 58 75 73 53 5 14 33
Renal Adysplasia 57 11 73 12 43 71
Renal Aplasia 57 11 73
Hereditary Renal Aplasia 57 11
Rhda1 57 73
Congenital Absence of Kidneys Syndrome 71
Hypodysplasia/aplasia, Renal, Type 1 38
Hereditary Urogenital Adysplasia 11
Congenital Absence of Kidney 33
Aplastic Kidney 33
Hra 57

Characteristics:


Inheritance:

Renal Hypodysplasia/aplasia 1: Autosomal recessive 57
Renal Agenesis: Autosomal dominant,Autosomal recessive 58

Prevelance:

Renal Agenesis: 1-5/10000 (Worldwide) 58

Age Of Onset:

Renal Agenesis: Antenatal,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in utero
death in utero or in the perinatal period


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
ICD11: 33
Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:14766
OMIM® 57 191830
OMIM Phenotypic Series 57 PS191830
MeSH 43 C563261
ICD10 31 Q60.2
ICD10 via Orphanet 32 Q60.0 Q60.1 Q60.2
UMLS via Orphanet 72 C0542519 C1609433 C1619700
Orphanet 58 ORPHA411709
ICD11 33 683319223
UMLS 71 C1609433 C1619700
Sources

Summaries for Renal Hypodysplasia/aplasia 1

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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) (Updated 08-Dec-2022)

MalaCards based summary: Renal Hypodysplasia/aplasia 1, also known as renal agenesis, is related to fraser syndrome 1 and potter's syndrome. An important gene associated with Renal Hypodysplasia/aplasia 1 is ITGA8 (Integrin Subunit Alpha 8), and among its related pathways/superpathways are Signal Transduction and Neural Stem Cells and Lineage-specific Markers. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and lung, and related phenotypes are unilateral renal agenesis and ureteral agenesis

GARD: 19 A rare, congenital renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral or bilateral renal agenesis respectively), accompanied by absent ureter(s).

Orphanet: 58 A rare, congenital renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral or bilateral renal agenesis respectively), accompanied by absent ureter(s).

UniProtKB/Swiss-Prot: 73 A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy.

Disease Ontology: 11 A renal disease that is characterized by the failure of one or both kidneys to develop.

Wikipedia: 75 Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail... more...
Sources

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
Renal Hypodysplasia/aplasia 4

Diseases related to Renal Hypodysplasia/aplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 518)
# Related Disease Score Top Affiliating Genes
1 fraser syndrome 1 32.4 GRIP1 FREM2 FREM1 FRAS1 EYA1
2 potter's syndrome 32.4 PAX2 GREB1L
3 congenital anomalies of kidney and urinary tract 2 32.3 PAX2 FREM2 FRAS1 EYA1 AGTR2
4 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 32.1 PAX2 GREB1L
5 bilateral renal aplasia 32.0 PAX2 ITGA8 GREB1L FRAS1 EYA1
6 renal hypodysplasia/aplasia 3 32.0 TMCO1 RET GREB1L FREM2 FREM1 FRAS1
7 renal hypoplasia 31.3 SIX2 SALL1 PAX2 GFRA1 GDNF FGF8
8 oligomeganephronia 31.3 SALL1 PAX2 EYA1
9 anus, imperforate 31.1 SALL1 FREM2 FRAS1 FGF8
10 renal agenesis, bilateral 31.1 RET ITGA8 GREB1L GFRA1 EYA1
11 papillorenal syndrome 31.1 SIX2 SALL1 PAX2 GDNF FREM2 FRAS1
12 oligohydramnios 30.9 PAX2 FREM2 FRAS1
13 vacterl association 30.8 SALL1 PAX2 FGF8
14 multicystic dysplastic kidney 30.8 PAX2 AGTR2
15 cryptorchidism, unilateral or bilateral 30.8 TMCO1 PROKR2 GFRA1 GDNF FGF8 CFTR
16 chromosome 2q35 duplication syndrome 30.7 SALL1 GRIP1 FREM2 FREM1 FRAS1 FGF8
17 polycystic kidney disease 30.7 SIX2 PAX2 GDNF CFTR BICC1
18 hirschsprung disease 1 30.7 RET PROKR2 GFRA1 GDNF
19 cakut 30.7 SIX2 SALL1 RET PAX2 ITGA8 GREB1L
20 autosomal dominant polycystic kidney disease 30.7 SIX2 PAX2 CFTR BICC1
21 branchiootorenal syndrome 30.7 SIX2 SALL1 PAX2 FRAS1 EYA1
22 wilms tumor 1 30.7 SIX2 SALL1 PAX2 EYA1
23 thyroid gland medullary carcinoma 30.7 RET GFRA1 GDNF
24 multiple endocrine neoplasia, type iia 30.7 RET GFRA1 GDNF
25 cryptophthalmos 30.6 GRIP1 FREM2 FREM1 FRAS1
26 thyroid carcinoma, familial medullary 30.6 RET GFRA1 GDNF
27 hypogonadotropic hypogonadism 30.6 PROKR2 FGF8 CFTR ANOS1
28 hydronephrosis 30.5 SIX2 PAX2 AGTR2
29 cystic kidney disease 30.5 SIX2 PAX2 CFTR BICC1
30 coloboma of macula 30.4 SALL1 PROKR2 PAX2 FREM2 FREM1 FRAS1
31 medullary sponge kidney 30.3 RET GDNF
32 diaphragmatic hernia, congenital 30.3 FREM2 FREM1 FRAS1
33 sensorineural hearing loss 30.3 TMCO1 RET PROKR2 PAX2 GREB1L FGF8
34 hypogonadotropic hypogonadism 1 with or without anosmia 30.3 PROKR2 ANOS1
35 vesicoureteral reflux 30.3 SIX2 SALL1 RET PAX2 GREB1L GFRA1
36 megacolon 30.3 RET GFRA1 GDNF
37 synostosis 30.3 FREM2 FREM1 FRAS1 FGF8
38 hypoparathyroidism-deafness-renal disease syndrome 30.2 PAX2 EYA1
39 cleft palate, isolated 30.2 TMCO1 SIX2 FREM2 FRAS1 FGF8
40 treacher collins syndrome 1 30.0 FREM2 FRAS1 FGF8
41 hypogonadotropic hypogonadism 2 with or without anosmia 29.9 PROKR2 ANOS1
42 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 11.6
43 neurofacioskeletal syndrome with or without renal agenesis 11.6
44 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 11.6
45 double uterus-hemivagina-renal agenesis 11.5
46 bifid nose with or without anorectal and renal anomalies 11.4
47 santos mateus leal syndrome 11.4
48 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 11.4
49 holzgreve syndrome 11.4
50 jejunal atresia with renal adysplasia 11.3

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 30 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 unilateral renal agenesis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000122
2 ureteral agenesis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012300
3 hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000822
4 proteinuria 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000093
5 renal insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000083
6 absent vas deferens 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0012873
7 talipes equinovarus 58 30 Very rare (1%) Occasional (29-5%)
 HP:0001762
8 anal atresia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002023
9 ventricular septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001629
10 oligohydramnios 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001562
11 pulmonary hypoplasia 58 30 Very rare (1%) Occasional (29-5%)
 HP:0002089
12 aplasia/hypoplasia of the uterus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0008684
13 bilateral renal agenesis 58 30 Very rare (1%) Occasional (29-5%)
 HP:0010958
14 potter facies 58 30 Very rare (1%) Occasional (29-5%)
 HP:0002009
15 aplasia/hypoplasia of the bladder 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0010476
16 anhydramnios 30 Very rare (1%) HP:0025700
17 hypertelorism 30 HP:0000316
18 retrognathia 30 HP:0000278
19 low-set ears 30 HP:0000369
20 primary amenorrhea 30 HP:0000786
21 renal agenesis 58 Obligate (100%)
22 bicornuate uterus 30 HP:0000813
23 vaginal atresia 30 HP:0000148
24 renal dysplasia 30 HP:0000110

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Feet:
talipes equinovarus
club feet

Genitourinary Kidneys:
renal agenesis
renal dysplasia
renal adysplasia

Skeletal Hands:
spade-like hands

Head And Neck Eyes:
wide-set eyes

Genitourinary Ureters:
ureteral aplasia

Prenatal Manifestations Amniotic Fluid:
oligohydramnios
anhydramnios

Head And Neck Face:
potter facies
flattened nose
receding chin

Head And Neck Ears:
large, low-set ears
ears deficient in cartilage

Respiratory Lung:
lung hypoplasia

Genitourinary Bladder:
bladder hypoplasia
bladder abnormalities

Clinical features from OMIM®:

191830 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Renal Hypodysplasia/aplasia 1:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 10.47 AGTR2 BICC1 EYA1 FGF8 FRAS1 FREM1
2 nervous system MP:0003631 10.45 AGTR2 EYA1 FGF8 FREM1 FREM2 GDNF
3 growth/size/body region MP:0005378 10.43 AGTR2 BICC1 CFTR EYA1 FGF8 FRAS1
4 cellular MP:0005384 10.31 AGTR2 BICC1 CFTR EYA1 FGF8 FRAS1
5 endocrine/exocrine gland MP:0005379 10.29 AGTR2 BICC1 CFTR EYA1 FGF8 FREM1
6 digestive/alimentary MP:0005381 10.29 AGTR2 BICC1 CFTR EYA1 FGF8 FRAS1
7 cardiovascular system MP:0005385 10.22 AGTR2 BICC1 EYA1 FGF8 FRAS1 FREM2
8 normal MP:0002873 10.19 CFTR EYA1 FGF8 FREM1 GFRA1 RET
9 embryo MP:0005380 10.19 BICC1 EYA1 FGF8 FREM2 GFRA1 GREB1L
10 behavior/neurological MP:0005386 10.18 AGTR2 BICC1 CFTR EYA1 FGF8 GDNF
11 muscle MP:0005369 10.16 AGTR2 EYA1 FGF8 FREM1 FREM2 GDNF
12 limbs/digits/tail MP:0005371 10.09 FGF8 FRAS1 FREM1 FREM2 GRIP1 RET
13 craniofacial MP:0005382 10.06 CFTR EYA1 FGF8 FRAS1 FREM1 FREM2
14 reproductive system MP:0005389 10.03 BICC1 CFTR EYA1 FGF8 FREM1 FREM2
15 hearing/vestibular/ear MP:0005377 10.01 EYA1 FGF8 FREM2 ITGA8 PAX2 SALL1
16 respiratory system MP:0005388 9.97 CFTR EYA1 FGF8 FRAS1 FREM1 FREM2
17 skeleton MP:0005390 9.81 AGTR2 EYA1 FGF8 FRAS1 FREM1 FREM2
18 vision/eye MP:0005391 9.61 CFTR EYA1 FGF8 FRAS1 FREM1 FREM2
19 mortality/aging MP:0010768 9.6 AGTR2 BICC1 CFTR EYA1 FGF8 FRAS1
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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 1

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 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Renal Hypodysplasia/aplasia 1

Cochrane evidence based reviews: renal adysplasia

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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 Hypodysplasia/aplasia 1 28 ITGA8
Sources

Anatomical Context for Renal Hypodysplasia/aplasia 1

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Organs/tissues related to Renal Hypodysplasia/aplasia 1:

MalaCards : Kidney, Uterus, Lung, Testis, Cervix, Adrenal Gland, Ovary
ODiseA: Respiratory System-Lung, Respiratory System, Kidney
Sources

Publications for Renal Hypodysplasia/aplasia 1

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Articles related to Renal Hypodysplasia/aplasia 1:

(show top 50) (show all 2294)
# Title Authors PMID Year
1
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans. 62 57 5
24439109 2014
2
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases. 62 5
35005812 2022
3
Renal dysplasia, megalocystis, and sirenomelia in four siblings. 62 57
8475459 1993
4
Renal ultrasound examination of parents in dominantly inherited renal adysplasia--a note of caution. 62 57
3287926 1988
5
Bilateral renal agenesis in three consecutive siblings. 62 57
3317388 1987
6
Renal agenesis in British Columbia. 62 57
4003440 1985
7
A pedigree study of perinatally lethal renal disease. 62 57
3886908 1985
8
Familial nature of congenital absence and severe dysgenesis of both kidneys. 62 57
6717505 1984
9
Hereditary renal adysplasia. 62 57
6741530 1984
10
Concordant monozygotic twins with bilateral renal agenesis. 62 57
6694189 1984
11
A family study of renal agenesis. 62 57
469895 1979
12
Bilateral renal agenesis in 2 male sibs born to consanguineous parents. 62 57
712765 1978
13
Familial renal agenesis and total dysplasia. 62 57
4413435 1974
14
Familial aggregation in bilateral renal agenesis. 62 57
4829427 1974
15
Familial bilateral renal agenesis and hereditary renal adysplasia. 62 57
4744207 1973
16
The association of bilateral and unilateral renal aplasia in the same family. 62 57
4797640 1973
17
Bilateral renal agenesis in two female siblings. 62 57
5539818 1971
18
Renal aplasia in sisters. 62 57
12984947 1952
19
Facial characteristics of infants with bilateral renal agenesis. 62 57
20984673 1946
20
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 5
33532864 2022
21
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. 5
29290337 2018
22
Copy-number disorders are a common cause of congenital kidney malformations. 57
23159250 2012
23
De novo translocation (1; 2)(q32; p25) associated with bilateral renal dysplasia. 57
12694239 2003
24
Integrin alpha8beta1 is critically important for epithelial-mesenchymal interactions during kidney morphogenesis. 57
9054500 1997
25
Potter's syndrome in the second trimester--prenatal screening and pathological findings in 60 cases of oligohydramnios sequence. 57
7544896 1995
26
Genetics, pathoanatomy and prenatal diagnosis of Potter I syndrome and other urogenital tract diseases. 57
7151297 1982
27
A familial syndrome of renal, genital, and middle ear anomalies. 57
5634940 1968
28
NEWBORN AFTER PROLONGED LEAKAGE OF LIQUOR AMNII. 57
14171064 1964
29
Bilateral absence of the kidneys and related congenital anomalies. 57
14354552 1954
30
Bilateral agenesis of the kidneys in two consecutive infants. 57
13138668 1954
31
Renal aplasia in humans is associated with RET mutations. 53 62
18252215 2008
32
Correlation between CFTR gene mutations in Iranian men with congenital absence of the vas deferens and anatomical genital phenotype. 53 62
17673436 2008
33
Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome. 53 62
17603054 2007
34
Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development. 53 62
16670092 2006
35
Critical and distinct roles for key RET tyrosine docking sites in renal development. 53 62
16452504 2006
36
Renal hypoplasia: lessons from Pax2. 53 62
16273412 2006
37
Implication of genetic variations in congenital obstructive nephropathy. 53 62
16133060 2005
38
[Congenital absence of the vas deferens]. 53 62
15562795 2004
39
Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome. 53 62
15571757 2004
40
A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. 53 62
14730302 2004
41
A homozygous missense mutation in the tyrosine E kinase domain of the RET proto-oncogene in an infant with total intestinal aganglionosis. 53 62
11316186 2001
42
Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling. 53 62
11119745 2000
43
X-linked Kallmann syndrome and renal agenesis occurring together and independently in a large Australian family. 53 62
10076881 1999
44
Renal abnormalities in patients with Kallmann syndrome. 53 62
10210557 1999
45
Expression of the RET proto-oncogene in human embryos. 53 62
9880212 1998
46
Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. 53 62
8896568 1996
47
Detection rates of a national fetal anomaly screening programme: A national cohort study. 62
36054171 2023
48
Zinner syndrome: A first case report from Ethiopia. 62
36324846 2023
49
Zinner's syndrome: Masquerading as pyonephrotic ectopic kidney. 62
36340236 2023
50
Challenging clinical presentation of Zinner syndrome. 62
36353249 2023
Sources

Variations for Renal Hypodysplasia/aplasia 1

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ClinVar genetic disease variations for Renal Hypodysplasia/aplasia 1:

5 (show top 50) (show all 222)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FRAS1 NM_025074.7(FRAS1):c.879C>G (p.Tyr293Ter) SNV Pathogenic
 1328410 GRCh37: 4:79188484-79188484
GRCh38: 4:78267330-78267330
2 FRAS1 NM_025074.7(FRAS1):c.1176C>G (p.Tyr392Ter) SNV Pathogenic
 1328421 GRCh37: 4:79204042-79204042
GRCh38: 4:78282888-78282888
3 FRAS1 NM_025074.7(FRAS1):c.7747C>T (p.Gln2583Ter) SNV Pathogenic
 1328427 GRCh37: 4:79396656-79396656
GRCh38: 4:78475502-78475502
4 ITGA8 NM_003638.3(ITGA8):c.2982+2T>C SNV Pathogenic
 126498 rs587777279 GRCh37: 10:15573047-15573047
GRCh38: 10:15531048-15531048
5 ITGA8 NM_003638.3(ITGA8):c.1622_1626del (p.Glu541fs) DEL Pathogenic
 126499 rs587777280 GRCh37: 10:15649814-15649818
GRCh38: 10:15607815-15607819
6 ITGA8 NM_003638.3(ITGA8):c.1219G>A (p.Gly407Arg) SNV Pathogenic
 126500 rs374664941 GRCh37: 10:15686209-15686209
GRCh38: 10:15644210-15644210
7 ITGA8 NM_003638.3(ITGA8):c.2804dup (p.Val936fs) DUP Pathogenic
 1706540 GRCh37: 10:15590529-15590530
GRCh38: 10:15548530-15548531
8 TMCO1 NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) SNV Pathogenic
 598963 rs765379963 GRCh37: 1:165712409-165712409
GRCh38: 1:165743172-165743172
9 KIAA1109 NM_001384125.1(KIAA1109):c.9153del (p.Val3052fs) DEL Pathogenic
 978641 rs1773935759 GRCh37: 4:123207811-123207811
GRCh38: 4:122286656-122286656
10 RET NM_020975.6(RET):c.2410G>A (p.Val804Met) SNV Pathogenic
 37102 rs79658334 GRCh37: 10:43614996-43614996
GRCh38: 10:43119548-43119548
11 ITGA8 NM_003638.3(ITGA8):c.2626C>T (p.Gln876Ter) SNV Likely Pathogenic
 1324596 GRCh37: 10:15614221-15614221
GRCh38: 10:15572222-15572222
12 BICC1 NM_001080512.3(BICC1):c.387+1G>C SNV Likely Pathogenic
 1328431 GRCh37: 10:60544841-60544841
GRCh38: 10:58785081-58785081
13 HSPB11 NM_016126.4(HSPB11):c.183dup (p.Leu62fs) DUP Uncertain Significance
 1252040 GRCh37: 1:54395733-54395734
GRCh38: 1:53930060-53930061
14 TBX18 GRCh37/hg19 6q14.3(chr6:85220808-85517846)x3 CN GAIN Uncertain Significance
 813842 GRCh37: 6:85220808-85517846
GRCh38:
15 KIAA1109 NM_001384125.1(KIAA1109):c.14113+11G>C SNV Uncertain Significance
 978642 rs1381896643 GRCh37: 4:123271240-123271240
GRCh38: 4:122350085-122350085
16 GREB1L NM_001142966.3(GREB1L):c.2441T>C (p.Leu814Pro) SNV Uncertain Significance
 1328407 GRCh37: 18:19057202-19057202
GRCh38: 18:21477241-21477241
17 GREB1L NM_001142966.3(GREB1L):c.1720+5G>A SNV Uncertain Significance
 1328408 GRCh37: 18:19029802-19029802
GRCh38: 18:21449841-21449841
18 GREB1L NM_001142966.3(GREB1L):c.3170G>C (p.Arg1057Pro) SNV Uncertain Significance
 1328409 GRCh37: 18:19076438-19076438
GRCh38: 18:21496477-21496477
19 UPK3A NM_006953.4(UPK3A):c.560G>A (p.Arg187His) SNV Uncertain Significance
 341982 rs140649681 GRCh37: 22:45685013-45685013
GRCh38: 22:45289132-45289132
20 UPK3A NM_006953.4(UPK3A):c.470C>T (p.Ser157Leu) SNV Uncertain Significance
 341979 rs200941092 GRCh37: 22:45683314-45683314
GRCh38: 22:45287433-45287433
21 UPK3A NM_006953.4(UPK3A):c.802T>C (p.Ser268Pro) SNV Uncertain Significance
 341986 rs886057606 GRCh37: 22:45691538-45691538
GRCh38: 22:45295657-45295657
22 UPK3A NM_006953.4(UPK3A):c.-26C>G SNV Uncertain Significance
 341967 rs768663033 GRCh37: 22:45680869-45680869
GRCh38: 22:45284988-45284988
23 UPK3A NM_006953.4(UPK3A):c.*42C>T SNV Uncertain Significance
 341989 rs746035232 GRCh37: 22:45691642-45691642
GRCh38: 22:45295761-45295761
24 UPK3A NM_006953.4(UPK3A):c.202G>A (p.Asp68Asn) SNV Uncertain Significance
 224348 rs145186308 GRCh37: 22:45681971-45681971
GRCh38: 22:45286090-45286090
25 UPK3A NM_006953.4(UPK3A):c.404G>A (p.Arg135Lys) SNV Uncertain Significance
 341975 rs147406393 GRCh37: 22:45683248-45683248
GRCh38: 22:45287367-45287367
26 UPK3A NM_006953.4(UPK3A):c.731C>T (p.Thr244Met) SNV Uncertain Significance
 341985 rs374008042 GRCh37: 22:45691467-45691467
GRCh38: 22:45295586-45295586
27 UPK3A NM_006953.4(UPK3A):c.704+8C>A SNV Uncertain Significance
 341984 rs112177270 GRCh37: 22:45689202-45689202
GRCh38: 22:45293321-45293321
28 UPK3A NM_006953.4(UPK3A):c.332G>A (p.Ser111Asn) SNV Uncertain Significance
 341973 rs765876533 GRCh37: 22:45683176-45683176
GRCh38: 22:45287295-45287295
29 UPK3A NM_006953.4(UPK3A):c.418G>A (p.Gly140Arg) SNV Uncertain Significance
 341976 rs139626522 GRCh37: 22:45683262-45683262
GRCh38: 22:45287381-45287381
30 UPK3A NM_006953.4(UPK3A):c.209-11C>T SNV Uncertain Significance
 341970 rs201838809 GRCh37: 22:45683042-45683042
GRCh38: 22:45287161-45287161
31 UPK3A NM_006953.4(UPK3A):c.359G>A (p.Gly120Glu) SNV Uncertain Significance
 899758 rs1469984134 GRCh37: 22:45683203-45683203
GRCh38: 22:45287322-45287322
32 UPK3A NM_006953.4(UPK3A):c.361G>T (p.Asp121Tyr) SNV Uncertain Significance
 899759 rs779158798 GRCh37: 22:45683205-45683205
GRCh38: 22:45287324-45287324
33 UPK3A NM_006953.4(UPK3A):c.450C>A (p.Gly150=) SNV Uncertain Significance
 900912 rs147160242 GRCh37: 22:45683294-45683294
GRCh38: 22:45287413-45287413
34 UPK3A NM_006953.4(UPK3A):c.480G>A (p.Thr160=) SNV Uncertain Significance
 900913 rs200247042 GRCh37: 22:45683324-45683324
GRCh38: 22:45287443-45287443
35 UPK3A NM_006953.4(UPK3A):c.732G>A (p.Thr244=) SNV Uncertain Significance
 903431 rs749421617 GRCh37: 22:45691468-45691468
GRCh38: 22:45295587-45295587
36 UPK3A NM_006953.4(UPK3A):c.818C>T (p.Pro273Leu) SNV Uncertain Significance
 873 rs121918186 GRCh37: 22:45691554-45691554
GRCh38: 22:45295673-45295673
37 ITGA8 NM_003638.3(ITGA8):c.158A>G (p.Lys53Arg) SNV Uncertain Significance
 1029736 rs1013453104 GRCh37: 10:15761613-15761613
GRCh38: 10:15719614-15719614
38 ITGA8 NM_003638.3(ITGA8):c.1156T>C (p.Phe386Leu) SNV Uncertain Significance
 1032141 rs147384918 GRCh37: 10:15688896-15688896
GRCh38: 10:15646897-15646897
39 SOX3 NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) DUP Uncertain Significance
 95305 rs398124211 GRCh37: X:139586488-139586489
GRCh38: X:140504323-140504324
40 RET NM_020975.6(RET):c.592C>A (p.Pro198Thr) SNV Uncertain Significance
 13956 rs76736111 GRCh37: 10:43598044-43598044
GRCh38: 10:43102596-43102596
41 RET NM_020975.6(RET):c.*538G>T SNV Uncertain Significance
 299914 rs886046997 GRCh37: 10:43624255-43624255
GRCh38: 10:43128807-43128807
42 RET NM_020975.6(RET):c.*84G>A SNV Uncertain Significance
 299902 rs558718557 GRCh37: 10:43623801-43623801
GRCh38: 10:43128353-43128353
43 RET NM_020975.6(RET):c.*763C>T SNV Uncertain Significance
 299919 rs886047001 GRCh37: 10:43624480-43624480
GRCh38: 10:43129032-43129032
44 RET NM_020975.6(RET):c.*935C>A SNV Uncertain Significance
 299921 rs886047003 GRCh37: 10:43624652-43624652
GRCh38: 10:43129204-43129204
45 RET NM_020975.6(RET):c.*1337A>T SNV Uncertain Significance
 299930 rs886047009 GRCh37: 10:43625054-43625054
GRCh38: 10:43129606-43129606
46 RET NM_020975.6(RET):c.*1130A>G SNV Uncertain Significance
 299926 rs572936041 GRCh37: 10:43624847-43624847
GRCh38: 10:43129399-43129399
47 RET NM_020975.6(RET):c.*1797T>G SNV Uncertain Significance
 299944 rs886047013 GRCh37: 10:43625514-43625514
GRCh38: 10:43130066-43130066
48 RET NM_020975.6(RET):c.*358G>T SNV Uncertain Significance
 299906 rs886046991 GRCh37: 10:43624075-43624075
GRCh38: 10:43128627-43128627
49 RET NM_020975.6(RET):c.*1020G>T SNV Uncertain Significance
 299922 rs886047004 GRCh37: 10:43624737-43624737
GRCh38: 10:43129289-43129289
50 RET NM_020975.6(RET):c.*506G>T SNV Uncertain Significance
 299912 rs886046995 GRCh37: 10:43624223-43624223
GRCh38: 10:43128775-43128775

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.
Sources

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
Signal Transduction 66
13.52 RET PROKR2 ITGA8 GFRA1 GDNF FGF8
2
Neural Stem Cells and Lineage-specific Markers 65
11.51 PAX2 GDNF FGF8
3
RET signaling 66
Show member pathways
 11.47 RET GFRA1 GDNF
4
Posttranslational regulation of adherens junction stability and dissassembly 61
11.23 RET GFRA1 GDNF
5
Genes controlling nephrogenesis 74
11.08 RET PAX2 ITGA8 GDNF FGF8 EYA1
6
G-protein signaling_H-RAS regulation pathway 22
11.07 RET GFRA1 GDNF
7
Development of ureteric collection system 74
11.05 SIX2 SALL1 RET PAX2 ITGA8 GREB1L
8
G-protein signaling_Rap2B regulation pathway 22
10.78 ITGA8 FREM2 FREM1 FRAS1 FGF8
9
GDNF/RET signaling axis 74
10.78 SALL1 PAX2 GDNF EYA1 AGTR2
10
Kallmann syndrome 74
10.76 ANOS1 FGF8 PROKR2
Sources

GO Terms for Renal Hypodysplasia/aplasia 1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 anatomical structure morphogenesis GO:0009653 10.15 EYA1 FGF8 FRAS1 FREM1 FREM2 SIX2
2 neuron differentiation GO:0030182 10.05 RET GFRA1 FGF8 ANOS1
3 cell communication GO:0007154 10.01 FREM2 FREM1 FRAS1
4 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.95 PAX2 GDNF AGTR2
5 inner ear morphogenesis GO:0042472 9.93 PAX2 ITGA8 FGF8 EYA1
6 branching involved in ureteric bud morphogenesis GO:0001658 9.93 EYA1 FGF8 GDNF GREB1L PAX2 SALL1
7 ureteric bud development GO:0001657 9.91 SALL1 RET GDNF EYA1
8 mesodermal cell fate specification GO:0007501 9.88 SIX2 PAX2 EYA1
9 mesonephros development GO:0001823 9.87 PAX2 FGF8
10 organ induction GO:0001759 9.86 GDNF FGF8
11 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.86 SIX2 SALL1 PAX2 GDNF
12 glial cell-derived neurotrophic factor receptor signaling pathway GO:0035860 9.85 RET GFRA1
13 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.83 PAX2 GDNF
14 ureter maturation GO:0035799 9.81 RET PAX2
15 regulation of metanephros size GO:0035566 9.8 AGTR2 PAX2
16 positive regulation of metanephric glomerulus development GO:0072300 9.8 RET PAX2 AGTR2
17 metanephros development GO:0001656 9.7 SIX2 ITGA8 GREB1L GDNF FGF8 EYA1
18 kidney development GO:0001822 9.5 SIX2 SALL1 ITGA8 GREB1L GFRA1 FREM2
Sources

Sources for Renal Hypodysplasia/aplasia 1

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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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