SARCOIDOSIS, EARLY-ONSET

General Information (adopted from Orphanet):

Synonyms, Signs: EOS
Number of Symptoms 2
OrphanetNr:
OMIM Id: 609464
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:0012220) Non-caseating epithelioid cell granulomatosis 15086578 IBIS 3 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In childhood, 2 distinct types of sarcoidosis have been described (Shetty and Gedalia, 1998). Usually the disease is detected in older children by chest radiography, and the clinical manifestations are characterized by a classic triad of lung, lymph ...
Molecular genetics OMIM Blau syndrome (BS; 186580), which also shows early-onset granulomatous arthritis, uveitis, and skin rash, is a rare familial disorder transmitted in an autosomal dominant manner. By linkage analysis, the responsible locus was mapped to chromosome 16, and the ...