Sarcoidosis, susceptibility to, 1

Preferred Label : Sarcoidosis, susceptibility to, 1;

Symbol : SS1;

CISMeF acronym : SS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Boeck sarcoid; SARCOIDOSIS;

Description : Sarcoidosis is a granulomatous disorder associated with an accumulation of CD4 T cells and a Th1 immune response. 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 node, and eye involvement, similar to those in adults. In contrast, early-onset sarcoidosis (EOS; 609464), which usually appears in those younger than 4 years of age, is rare and has a distinct triad of skin, joint, and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, EOS is progressive and in many cases causes severe complications, such as blindness, joint destruction, and visceral involvement.;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the major histocompatibility complex, class II, DR beta-1 gene (HLA-DR1B, 142857.0001);

Laboratory abnormalities : Elevated erythrocyte sedimentation rate (ESR); Positive Kveim-Siltzbach skin test; Hypercalciuria; Elevated serum angiotensin-converting enzyme (ACE); Mononuclear cell noncaseating granulomatous inflammation on biopsy (lung, skin, lip);

Prefixed ID : #181000;

Details

Origin ID

181000;

UMLS CUI

C2697310;

Currated CISMeF NLP mapping
- SARCOIDOSIS [WHO-ART Preferred Term]
- Sarcoidosis [PASCAL descriptor]
- Sarcoidosis [ICD-10 category]
- Sarcoidosis [ICD-11 Category]
- Sarcoidosis [LOINC part]
- Sarcoidosis [ICD-10 category (who)]
- Sarcoidosis [MedDRA Preferred Term]
- Sarcoidosis [NCIt concept]
- Sarcoidosis [ORDO Disease]
- Sarcoidosis [ICD-9 code]
- Sarcoidosis (disorder) [SNOMED CT concept]
- Sarcoidosis NOS [MedDRA LLT]
- sarcoidosis [Disease (Nov.)]
- sarcoidosis [DO Concept]
- sarcoidosis [MedlinePlus Topic]
- sarcoidosis [MeSH Descriptor]
- sarcoidosis [MeSH concept]
- sarcoidosis [Radlex concept]
- sarcoidosis, nos [SNOMED Notion]
Genes related to phenotype
- Major histocompatibility complex, class II, dr beta-1 [OMIM gene]
HPO term(s)
- Abnormal pulmonary interstitial morphology [HPO term]
- Abnormal salivary gland morphology [HPO term]
- Abnormality of T cell physiology [HPO term]
- Adult onset [HPO term]
- Anorexia [HPO term]
- Arthritis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blurred vision [HPO term]
- Bone cyst [HPO term]
- Bronchiectasis [HPO term]
- Chest pain [HPO term]
- Chorioretinitis [HPO term]
- Clubbing [HPO term]
- Cough [HPO term]
- Dyspnea [HPO term]
- Elevated bronchoalveolar lavage fluid lymphocyte proportion [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Emphysema [HPO term]
- Enlarged lacrimal glands [HPO term]
- Epiphora [HPO term]
- Epiphora [HPO term]
- Fever [HPO term]
- Generalized lymphadenopathy [HPO term]
- Glaucoma [HPO term]
- Hemoptysis [HPO term]
- Hepatomegaly [HPO term]
- Hypercalciuria [HPO term]
- Hypoxemia [HPO term]
- Increased circulating antibody level [HPO term]
- Increased liver function tests [HPO term]
- Inflammation of the large intestine [HPO term]
- Iridocyclitis [HPO term]
- Isolated cases [HPO term]
- Mediastinal lymphadenopathy [HPO term]
- Optic neuropathy [HPO term]
- Pancytopenia [HPO term]
- Pericardial effusion [HPO term]
- Photophobia [HPO term]
- Pleural effusion [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonary fibrosis [HPO term]
- Pulmonary infiltrates [HPO term]
- Restrictive ventilatory defect [HPO term]
- Sarcoid-associated optic neuropathy [HPO term]
- Splenomegaly [HPO term]
- Sporadic [HPO term]
- Uveitis [HPO term]
- Weight loss [HPO term]
ORDO concept(s)
- Sarcoidosis [ORDO Disease]
See also inter- (CISMeF)
- for sarcoidosis [LOINC component]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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