NEUROENDOCRINE CARCINOMA OF SALIVARY GLANDS, SENSORINEURAL HEARINGLOSS, AND ENAMEL HYPOPLASIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 603641
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:0006297) Hypoplasia of dental enamel 64 / 7739
2
(HPO:0000705) Amelogenesis imperfecta 25 / 7739
3
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
4
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
5
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
6
(HPO:0009590) Unilateral vestibular Schwannoma 2 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Low-grade neuroendocrine carcinoma (submandibular glands, salivary glands, maxillary sinus, nasal cavity) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: