ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr:
OMIM Id: 108050
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:0001085) Papilledema 31 / 7739
2
 (HPO:0001101) Iritis 3 / 7739
3
 (HPO:0001250) Seizures 1245 / 7739
4
 (HPO:0002315) Headache 175 / 7739
5
 (HPO:0001370) Rheumatoid arthritis 12 / 7739
6
 (HPO:0000952) Jaundice 105 / 7739
7
 (HPO:0001482) Subcutaneous nodule 17 / 7739
8
 (HPO:0001698) Pericardial effusion 20 / 7739
9
 (HPO:0006679) Granulomatous coronary arteritis 1 / 7739
10
 (HPO:0000822) Hypertension 224 / 7739
11
 (HPO:0001945) Fever 218 / 7739
12
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
13
 (HPO:0002202) Pleural effusion 22 / 7739
14
 (OMIM) hepatic 1 / 7739
15
 (OMIM) Juvenile polyarthritis 1 / 7739
16
 (OMIM) Macular erythematous rash 1 / 7739
17
 (OMIM) Noncaseating granulomas, vascular and extravascular esp 1 / 7739
18
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
19
 (OMIM) Abdominal aortograms show beading of the splenic, renal and iliac arteries, proximal stenosis and poststenotic dilatation, and intrarenal arterial stenoses 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: