SARCOIDOSIS, SUSCEPTIBILITY TO, 1

General Information (adopted from Orphanet):

Synonyms, Signs: BOECK SARCOID
SARCOIDOSIS
SS1
Number of Symptoms 35
OrphanetNr:
OMIM Id: 181000
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002150) Hypercalciuria 45 / 7739
2
(HPO:0007734) Enlarged lacrimal glands 2 / 7739
3
(HPO:0000613) Photophobia 158 / 7739
4
(HPO:0001094) Iridocyclitis 3 / 7739
5
(HPO:0000622) Blurred vision 14 / 7739
6
(HPO:0000501) Glaucoma 180 / 7739
7
(HPO:0000554) Uveitis 10 / 7739
8
(HPO:0012062) Bone cyst 19 / 7739
9
(HPO:0002039) Anorexia 62 / 7739
10
(HPO:0001824) Weight loss 42 / 7739
11
(HPO:0010702) Increased antibody level in blood 29 / 7739
12
(HPO:0005397) Exaggerated cellular immune processes 2 / 7739
13
(HPO:0003565) Elevated erythrocyte sedimentation rate 31 / 7739
14
(HPO:0002094) Dyspnea 132 / 7739
15
(HPO:0008940) Generalized lymphadenopathy 14 / 7739
16
(OMIM) Hepatomegaly may occur 1 / 7739
17
(OMIM) Bilateral hilar adenopathy 1 / 7739
18
(OMIM) Associated inflammatory bowel disease 1 / 7739
19
(OMIM) Mononuclear cell noncaseating granulomatous inflammation on biopsy (lung, skin, lip) 1 / 7739
20
(OMIM) Pulmonary parenchymal infiltration 1 / 7739
21
(OMIM) Bone marrow involvement may cause pancytopenia 1 / 7739
22
(OMIM) Pulmonary function tests show interstitial lung disease 1 / 7739
23
(OMIM) Enlarged salivary glands 1 / 7739
24
(OMIM) Elevated liver function tests may occur 1 / 7739
25
(MedDRA:10036030) Polyarthritis 3 / 7739
26
(OMIM) Activated mononuclear phagocytes 1 / 7739
27
(OMIM) Neurosarcoidosis (5-16% of patients) 1 / 7739
28
(OMIM) Tearing 2 / 7739
29
(OMIM) Sarcoid-associated optic neuropathy (1-5% of patients with neurosarcoidosis) 1 / 7739
30
(OMIM) Chorio-retinitis 1 / 7739
31
(OMIM) Splenomegaly may occur 1 / 7739
32
([DEL]MedDRA:10011224) Cough 70 / 7739
33
(OMIM) Activated T-helper cells 1 / 7739
34
(OMIM) Elevated serum angiotensin-converting enzyme (ACE) 1 / 7739
35
(OMIM) Positive Kveim-Siltzbach skin test 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Willoughby et al. (1971) described 3 sibs of whom 2 had sarcoidosis and 1 had Crohn disease. Gronhagen-Riska et al. (1983) commented on the occurrence of sarcoidosis and regional enteritis in the same family.

Nowack and ...

Molecular genetics OMIM Rossman et al. (2003) performed high-resolution typing for HLA-DPB1 (142858), HLA-DQB1 (604305), HLA-DRB1 (142857), and HLA-DRB3 (612735) loci and the presence of the DRB4 or DRB5 locus, to define HLA class II associations with sarcoidosis. A case-control etiologic ...