Takayasu arteritis

General Information (adopted from Orphanet):

Synonyms, Signs: YOUNG FEMALE ARTERITIS
PULSELESS DISEASE
AORTIC ARCH SYNDROME
Number of Symptoms 40
OrphanetNr: 3287
OMIM Id: 207600
ICD-10: M31.4
UMLs: C0039263
MeSH: D013625
MedDRA: 10043097
Snomed: 239937004
359789008

Prevalence, inheritance and age of onset:

Prevalence: 0.6 of 100 000 [Orphanet]
Inheritance: Not applicable
[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:0001357) Plagiocephaly Very frequent [Orphanet] 106 / 7739
2
 (HPO:0000488) Retinopathy Occasional [Orphanet] 75 / 7739
3
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
4
 (HPO:0100576) Amaurosis fugax Occasional [Orphanet] 13 / 7739
5
 (HPO:0100533) Inflammatory abnormality of the eye Frequent [Orphanet] 70 / 7739
6
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
7
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
8
 (HPO:0004372) Reduced consciousness/confusion Occasional [Orphanet] 73 / 7739
9
 (HPO:0002315) Headache Frequent [Orphanet] 175 / 7739
10
 (HPO:0100749) Chest pain Frequent [Orphanet] 92 / 7739
11
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
12
 (HPO:0100769) Synovitis Frequent [Orphanet] 86 / 7739
13
 (HPO:0005244) Gastrointestinal infarctions Occasional [Orphanet] 14 / 7739
14
 (HPO:0002039) Anorexia Very frequent [Orphanet] 62 / 7739
15
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
16
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
17
 (HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
18
 (HPO:0100735) Hypertensive crisis Very frequent [Orphanet] 9 / 7739
19
 (HPO:0002617) Aneurysm Very frequent [Orphanet] 34 / 7739
20
 (HPO:0002140) Ischemic stroke Occasional [Orphanet] 70 / 7739
21
 (HPO:0002092) Pulmonary hypertension Frequent [Orphanet] 109 / 7739
22
 (HPO:0001677) Coronary artery disease Frequent [Orphanet] 58 / 7739
23
 (HPO:0004306) Abnormality of the endocardium Occasional [Orphanet] 24 / 7739
24
 (HPO:0001654) Abnormality of the heart valves Very frequent [Orphanet] 49 / 7739
25
 (HPO:0002616) Aortic root dilatation Frequent [Orphanet] 27 / 7739
26
 (HPO:0000822) Hypertension Frequent [Orphanet] 224 / 7739
27
 (HPO:0001646) Abnormality of the aortic valve Frequent [Orphanet] 55 / 7739
28
 (HPO:0100545) Arterial stenosis Very frequent [Orphanet] 22 / 7739
29
 (HPO:0001638) Cardiomyopathy Frequent [Orphanet] 192 / 7739
30
 (HPO:0012089) Arteritis Very frequent [Orphanet] 40 / 7739
31
 (HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
32
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
33
 (HPO:0100758) Gangrene Frequent [Orphanet] 25 / 7739
34
 (HPO:0011227) Elevated C-reactive protein level Frequent [Orphanet] 55 / 7739
35
 (HPO:0002105) Hemoptysis Occasional [Orphanet] 30 / 7739
36
 (HPO:0002793) Abnormal pattern of respiration Frequent [Orphanet] 26 / 7739
37
 (HPO:0003326) Myalgia Frequent [Orphanet] 143 / 7739
38
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
39
 (OMIM) Arteritis, major aortic branches 1 / 7739
40
 (OMIM) Decreased pulses, upper limbs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: