Radio-renal syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 28
OrphanetNr: 3015
OMIM Id: 179280
ICD-10:
UMLs: C2931146
MeSH: C536267
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0008678) Renal hypoplasia/aplasia Very frequent [Orphanet] 127 / 7739
2
 (HPO:0000107) Renal cyst Very frequent [Orphanet] 126 / 7739
3
 (HPO:0000077) Abnormality of the kidney 73 / 7739
4
 (HPO:0000104) Renal agenesis 68 / 7739
5
 (HPO:0000086) Ectopic kidney 29 / 7739
6
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
7
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
8
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
9
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
10
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
11
 (HPO:0002714) Downturned corners of mouth Very frequent [Orphanet] 98 / 7739
12
 (HPO:0008572) External ear malformation 6 / 7739
13
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
14
 (HPO:0009777) Absent thumb 31 / 7739
15
 (HPO:0003974) Absent radius 26 / 7739
16
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
17
 (HPO:0009811) Abnormality of the elbow Very frequent [Orphanet] 30 / 7739
18
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
19
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
20
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
21
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
22
 (HPO:0003220) Abnormality of chromosome stability 98 / 7739
23
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
24
 (HPO:0002103) Abnormality of the pleura Very frequent [Orphanet] 58 / 7739
25
 (OMIM) Crossed renal ectopia 1 / 7739
26
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
27
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
28
 (OMIM) Bilateral absent thumb and radius 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: