Giant cell arteritis

General Information (adopted from Orphanet):

Synonyms, Signs: POLYMYALGIA RHEUMATICA
GIANT CELL ARTERITIS
CRANIAL ARTERITIS
GCA
Temporal arteritis
Horton disease
Number of Symptoms 61
OrphanetNr: 397
OMIM Id: 187360
ICD-10: M31.6
UMLs: C0039483
C1956391
MeSH: D013700
MedDRA: 10018250
10043207
Snomed: 400130008
414341000

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Multifactorial
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Predominantly large-vessel vasculitis
 -Rare circulatory system disease
 -Rare systemic or rheumatologic disease
Secondary glomerular disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
2
 (HPO:0000790) Hematuria Occasional [Orphanet] 106 / 7739
3
 (HPO:0001357) Plagiocephaly Occasional [Orphanet] 106 / 7739
4
 (HPO:0000421) Epistaxis Occasional [Orphanet] 85 / 7739
5
 (HPO:0000206) Glossitis Occasional [Orphanet] 9 / 7739
6
 (HPO:0100776) Recurrent pharyngitis Occasional [Orphanet] 18 / 7739
7
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
8
 (HPO:0000597) Ophthalmoparesis Frequent [Orphanet] 71 / 7739
9
 (HPO:0100576) Amaurosis fugax Occasional [Orphanet] 13 / 7739
10
 (HPO:0000651) Diplopia Occasional [Orphanet] 37 / 7739
11
 (HPO:0000618) Blindness 124 / 7739
12
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
13
 (HPO:0008030) Retinal arteritis 1 / 7739
14
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
15
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
16
 (HPO:0000405) Conductive hearing impairment Occasional [Orphanet] 164 / 7739
17
 (HPO:0010833) Spontaneous pain sensation Occasional [Orphanet] 4 / 7739
18
 (HPO:0000763) Sensory neuropathy Occasional [Orphanet] 78 / 7739
19
 (HPO:0009830) Peripheral neuropathy Occasional [Orphanet] 206 / 7739
20
 (HPO:0002315) Headache Very frequent [Orphanet] 175 / 7739
21
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
22
 (HPO:0002141) Gait imbalance Occasional [Orphanet] 55 / 7739
23
 (HPO:0001287) Meningitis Occasional [Orphanet] 46 / 7739
24
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
25
 (HPO:0000873) Diabetes insipidus Occasional [Orphanet] 34 / 7739
26
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
27
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
28
 (HPO:0100769) Synovitis Frequent [Orphanet] 86 / 7739
29
 (HPO:0002039) Anorexia Very frequent [Orphanet] 62 / 7739
30
 (HPO:0002027) Abdominal pain Occasional [Orphanet] 184 / 7739
31
 (HPO:0001399) Hepatic failure Occasional [Orphanet] 80 / 7739
32
 (HPO:0005244) Gastrointestinal infarctions Occasional [Orphanet] 14 / 7739
33
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
34
 (HPO:0001063) Acrocyanosis Occasional [Orphanet] 56 / 7739
35
 (HPO:0200042) Skin ulcer Occasional [Orphanet] 138 / 7739
36
 (HPO:0001596) Alopecia Frequent [Orphanet] 162 / 7739
37
 (HPO:0002616) Aortic root dilatation Occasional [Orphanet] 27 / 7739
38
 (HPO:0002647) Aortic dissection Occasional [Orphanet] 14 / 7739
39
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
40
 (HPO:0001697) Abnormality of the pericardium Occasional [Orphanet] 52 / 7739
41
 (HPO:0001677) Coronary artery disease Occasional [Orphanet] 58 / 7739
42
 (HPO:0002140) Ischemic stroke Very frequent [Orphanet] 70 / 7739
43
 (HPO:0012089) Arteritis Very frequent [Orphanet] 40 / 7739
44
 (HPO:0001695) Cardiac arrest Occasional [Orphanet] 87 / 7739
45
 (HPO:0001872) Abnormality of thrombocytes Occasional [Orphanet] 20 / 7739
46
 (HPO:0004420) Arterial thrombosis Occasional [Orphanet] 20 / 7739
47
 (HPO:0003565) Elevated erythrocyte sedimentation rate 31 / 7739
48
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
49
 (HPO:0011227) Elevated C-reactive protein level Frequent [Orphanet] 55 / 7739
50
 (HPO:0100758) Gangrene Occasional [Orphanet] 25 / 7739
51
 (HPO:0002103) Abnormality of the pleura Occasional [Orphanet] 58 / 7739
52
 (HPO:0100721) Mediastinal lymphadenopathy Occasional [Orphanet] 19 / 7739
53
 (HPO:0003326) Myalgia Occasional [Orphanet] 143 / 7739
54
 (HPO:0001324) Muscle weakness Occasional [Orphanet] 859 / 7739
55
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
56
 (MedDRA:10036099) Polymyalgia rheumatica 1 / 7739
57
 (MedDRA:10043207) Temporal arteritis 1 / 7739
58
 (OMIM) Giant cell arteritis 1 / 7739
59
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
60
 (HPO:0030164) Jaw claudication Very frequent [Orphanet] 2 / 7739
61
 ([DEL]MedDRA:10011224) Cough Occasional [Orphanet] 70 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Temporal arteritis is the local (and most frequent) manifestation (in temporal artery) of giant cell arteritis (GCA). Polymyalgia rheumatica (PMR), although separately described initially, is known to be the same fundamental process. Involvement of the retinal artery with ...
Molecular genetics OMIM To address the question of whether gene products of the HLA class II complex might contribute to GCA, Weyand et al. (1992) analyzed the functionally most important locus, HLA-DRB1 (see 142860), in a cohort of patients with biopsy-proven ...
Population genetics OMIM Liu et al. (2001) reviewed 121 consecutive patients who underwent temporal artery biopsy for possible GCA. The mean age of the patients with biopsy-proven GCA was higher than that in the biopsy-negative group (75 years vs 69 years). ...