Bilateral renal agenesis

General Information (adopted from Orphanet):

Synonyms, Signs: RENAL APLASIA
HEREDITARY RENAL APLASIA
RENAL AGENESIS
POTTER SYNDROME, INCLUDED
HRA UROGENITAL ADYSPLASIA, INCLUDED
Number of Symptoms 47
OrphanetNr: 1848
OMIM Id: 191830
ICD-10: Q60.1
UMLs:
MeSH: C536482
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0010957) Congenital posterior urethral valve 9 / 7739
2
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
3
 (HPO:0000093) Proteinuria 169 / 7739
4
 (HPO:0000786) Primary amenorrhea 61 / 7739
5
 (HPO:0000795) Abnormality of the urethra 38 / 7739
6
 (HPO:0000021) Megacystis 7 / 7739
7
 (HPO:0000104) Renal agenesis 68 / 7739
8
 (HPO:0010956) Fetal megacystis 5 / 7739
9
 (HPO:0008661) Urethral stenosis 9 / 7739
10
 (HPO:0010481) Urethral valve 7 / 7739
11
 (HPO:0000148) Vaginal atresia 16 / 7739
12
 (HPO:0000110) Renal dysplasia 44 / 7739
13
 (HPO:0008678) Renal hypoplasia/aplasia Very frequent [Orphanet] 127 / 7739
14
 (HPO:0000068) Urethral atresia 8 / 7739
15
 (HPO:0000813) Bicornuate uterus 22 / 7739
16
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
17
 (HPO:0000436) Abnormality of the nasal tip Very frequent [Orphanet] 18 / 7739
18
 (HPO:0000204) Cleft upper lip Occasional [Orphanet] 193 / 7739
19
 (HPO:0002009) Potter facies 8 / 7739
20
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
21
 (HPO:0000278) Retrognathia 100 / 7739
22
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
23
 (HPO:0000457) Depressed nasal ridge 85 / 7739
24
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
25
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
26
 (HPO:0000369) Low-set ears 372 / 7739
27
 (HPO:0001760) Abnormality of the foot 96 / 7739
28
 (HPO:0010497) Sirenomelia Occasional [Orphanet] 6 / 7739
29
 (HPO:0001762) Talipes equinovarus 309 / 7739
30
 (HPO:0005107) Abnormality of the sacrum Frequent [Orphanet] 18 / 7739
31
 (HPO:0001562) Oligohydramnios Very frequent [Orphanet] 75 / 7739
32
 (HPO:0002250) Abnormality of the large intestine Frequent [Orphanet] 32 / 7739
33
 (HPO:0002575) Tracheoesophageal fistula Frequent [Orphanet] 54 / 7739
34
 (HPO:0002023) Anal atresia Frequent [Orphanet] 135 / 7739
35
 (HPO:0000822) Hypertension 224 / 7739
36
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
37
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
38
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
39
 (OMIM) Mullerian defects 1 / 7739
40
 (HPO:0003577) Congenital onset 133 / 7739
41
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
42
 (OMIM) Fallopian tube aplasia 1 / 7739
43
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
44
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
45
 (OMIM) Seminal vesicle cyst 1 / 7739
46
 (OMIM) Deformity of feet and hands 1 / 7739
47
 (OMIM) Large, low-set ears deficient in cartilage 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Bilateral renal agenesis (BRA) belongs to a group of perinatally lethal renal diseases, including severe bilateral renal dysplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD) and severe obstructive uropathy. The estimated incidence of perinatally lethal renal disease is ...
Diagnosis OMIM - Prenatal Diagnosis

Schmidt et al. (1982) reported a successful experience with prenatal diagnosis by ultrasonography in 23 families.

Morse et al. (1987) reported bilateral renal aplasia in 3 consecutive sibs. Renal ultrasound studies ...
Clinical Description OMIM The 'Potter syndrome' was described by Potter (1946) in newborns with bilateral renal agenesis or other kidney abnormalities, including renal aplasia, dysplasia, hypoplasia, or multicystic disease. The characteristic phenotype of these infants is independent of the origin of ...
Molecular genetics OMIM - Mutation in PAX2

Tellier et al. (1998) reported patients with isolated renal hypoplasia and mutation in the PAX2 gene (e.g., 167409.0005).

To investigate whether PAX2 mutations occur in patients with isolated renal hypoplasia, ...