Renal tubular dysgenesis

General Information (adopted from Orphanet):

Synonyms, Signs: PRIMITIVE RENAL TUBULE SYNDROME RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA, INCLUDED
RTD
Primitive renal tubule syndrome
Renotubular dysgenesis
Number of Symptoms 35
OrphanetNr: 3033
OMIM Id: 267430
ICD-10: Q63.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Nonsyndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000124) Renal tubular dysfunction Very frequent [Orphanet] 46 / 7739
2
 (HPO:0000113) Polycystic kidney dysplasia Very frequent [Orphanet] 75 / 7739
3
 (HPO:0100519) Anuria 20 / 7739
4
 (HPO:0008660) Renotubular dysgenesis 1 / 7739
5
 (HPO:0000112) Nephropathy Occasional [Orphanet] 92 / 7739
6
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
7
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
8
 (HPO:0000239) Large fontanelles 135 / 7739
9
 (HPO:0010537) Wide cranial sutures 21 / 7739
10
 (HPO:0004492) Widely patent fontanelles and sutures 11 / 7739
11
 (HPO:0002009) Potter facies 8 / 7739
12
 (HPO:0000954) Single transverse palmar crease Occasional [Orphanet] 162 / 7739
13
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
14
 (HPO:0001562) Oligohydramnios Occasional [Orphanet] 75 / 7739
15
 (HPO:0001622) Premature birth Very frequent [Orphanet] 100 / 7739
16
 (HPO:0001561) Polyhydramnios Very frequent [Orphanet] 191 / 7739
17
 (HPO:0002615) Hypotension 52 / 7739
18
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
19
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
20
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
21
 (HPO:0002093) Respiratory insufficiency 410 / 7739
22
 (OMIM) Underdeveloped membranous cranial bones 2 / 7739
23
 (OMIM) Neonatal respiratory failure due to pulmonary hypoplasia 2 / 7739
24
 (OMIM) Oligohydramnios, severe 2 / 7739
25
 (OMIM) Hypotension, severe 2 / 7739
26
 (OMIM) Fetal anuria 2 / 7739
27
 (OMIM) Primitive renal tubules may exist 2 / 7739
28
 (OMIM) Calvaria hypoplasia 2 / 7739
29
 (OMIM) Renal tubular dysgenesis 2 / 7739
30
 (OMIM) Hypoplasia of the membranous bones of the skull 2 / 7739
31
 (OMIM) Pulmonary hypoplasia secondary to oligohydramnios 2 / 7739
32
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
33
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
34
 (OMIM) Kidney biopsy shows absence of differentiated proximal tubules 2 / 7739
35
 (OMIM) Thickening of renal arterial walls 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype) (Gribouval et al., 2005). Absence or ...
Clinical Description OMIM Allanson et al. (1983) described 2 stillborn females born consecutively of a nonconsanguineous Chinese couple. Both had the Potter syndrome resulting from oligohydramnios and showed a seemingly unique histologic change in the kidneys. Normal proximal convoluted tubules were ...
Molecular genetics OMIM Gribouval et al. (2005) studied 11 individuals with renal tubular dysgenesis (RTD) belonging to 9 families and found that they had homozygous or compound heterozygous mutations in the genes encoding renin (REN; 179820.0002), angiotensinogen (AGT; 106150.0003), angiotensin-converting enzyme ...