PAROTID SALIVARY GLANDS, POLYCYSTIC DYSGENETIC DISEASE OF

General Information (adopted from Orphanet):

Synonyms, Signs: PDDP
Number of Symptoms 9
OrphanetNr:
OMIM Id: 600343
ICD-10:
UMLs:
MeSH:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000153) Abnormality of the mouth 60 / 7739
2
(HPO:0000924) Abnormality of the skeletal system 114 / 7739
3
(OMIM) Cysts lined by cuboidal or flattened epithelial cells 1 / 7739
4
(OMIM) Epithelial cells may be sloughed into cysts 1 / 7739
5
(OMIM) Normal acini are replaced with honeycombed cysts 1 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Lack of inflammation 1 / 7739
8
(OMIM) Cysts may contain watery secretions or spheroliths and microliths 1 / 7739
9
(OMIM) Parotid gland swelling, bilateral 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Polycystic dysgenetic disease of the parotid gland (PDDP) is a rare benign condition of the parotid gland. The disorder presents often in childhood or young adulthood, but may occur later in life. It occurs most commonly in females. ...
Clinical Description OMIM Seifert et al. (1981) first delineated dysgenetic (primary) polycystic disease of the parotid glands as a distinct entity. The disorder was found in 2 unrelated patients out of a series 5,739 cases of salivary gland disturbances, 360 of ...