ONCOCYTOMA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 553000
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
2
(HPO:0002664) Neoplasm 111 / 7739
3
(OMIM) Mitochondrial cytchrome c oxidase subunit I gene mutant 1 / 7739
4
(HPO:0001427) Mitochondrial inheritance 12 / 7739
5
(OMIM) Multifocal benign oncocytomas, esp. renal 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Oncocytomas are usually benign tumors that occur in various organs but particularly in the kidneys. Histologic evaluation of renal oncocytomas shows that they are composed entirely of peculiar epithelial cells with granular eosinophilic cytoplasm. Ultrastructural characterization exhibits densely ...
Clinical Description OMIM Weirich et al. (1998) described 5 families in which multiple members had multiple bilateral renal oncocytomas. On dermatologic examination by Toro et al. (1999), 13 members of 3 of these families were found to have cutaneous lesions of ...
Molecular genetics OMIM Bartoletti-Stella et al. (2011) stained an oncocytic tumor of the adnexal lacrimal glands of the conjunctiva with a specific antibody against complex V(6) and observed mitochondrial abundance in the neoplastic cells. Analysis of the entire mtDNA sequence revealed ...