Nephropathy - deafness - hyperparathyroidism

General Information (adopted from Orphanet):

Synonyms, Signs: Edwards-Patton-Dilly syndrome
Number of Symptoms 12
OrphanetNr: 2668
OMIM Id: 256120
ICD-10: Q87.8
UMLs: C1850553
MeSH: C536401
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000112) Nephropathy 92 / 7739
2
 (HPO:0100820) Glomerulopathy Frequent [Orphanet] 46 / 7739
3
 (HPO:0000093) Proteinuria Frequent [Orphanet] 169 / 7739
4
 (HPO:0000083) Renal insufficiency Frequent [Orphanet] 232 / 7739
5
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
6
 (HPO:0000843) Hyperparathyroidism Frequent [Orphanet] 17 / 7739
7
 (HPO:0008208) Parathyroid hyperplasia 3 / 7739
8
 (HPO:0012062) Bone cyst Frequent [Orphanet] 19 / 7739
9
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
10
 (HPO:0003072) Hypercalcemia Frequent [Orphanet] 36 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (OMIM) No hematuria 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: