SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1

General Information (adopted from Orphanet):

Synonyms, Signs: MARIE-STRUMPELL SPONDYLITIS
BECHTEREW SYNDROME
ANKYLOSING SPONDYLITIS, SUSCEPTIBILITY TO
SPDA1
Number of Symptoms 24
OrphanetNr:
OMIM Id: 106300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Heterogeneous
Multifactorial
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012122) Anterior uveitis 4 / 7739
2
(HPO:0002758) Osteoarthritis 78 / 7739
3
(HPO:0008843) Hip osteoarthritis 12 / 7739
4
(HPO:0002808) Kyphosis 289 / 7739
5
(HPO:0005059) Arthralgia/arthritis 141 / 7739
6
(HPO:0001369) Arthritis 44 / 7739
7
(HPO:0003418) Back pain 17 / 7739
8
(HPO:0002037) Inflammation of the large intestine 25 / 7739
9
(HPO:0003765) Psoriasis 17 / 7739
10
(HPO:0001659) Aortic regurgitation 36 / 7739
11
(HPO:0011675) Arrhythmia 226 / 7739
12
(HPO:0100686) Enthesitis 5 / 7739
13
(OMIM) HLA-B27 haplotype association (95% patients) 1 / 7739
14
(OMIM) Accentuated kyphosis 1 / 7739
15
(MedDRA:10002921) Aortitis 1 / 7739
16
(OMIM) Nocturnal back pain 1 / 7739
17
(MedDRA:10039361) Sacroiliitis 1 / 7739
18
(OMIM) Peripheral enthesitis 1 / 7739
19
(OMIM) Back stiffness 1 / 7739
20
(OMIM) 'Bamboo' spine 1 / 7739
21
(OMIM) Peripheral arthritis (oligoarticular or polyarticular) 1 / 7739
22
(HPO:0001426) Multifactorial inheritance 37 / 7739
23
(MedDRA:10048574) Rheumatoid factor negative 2 / 7739
24
(MedDRA:10002556) Ankylosing spondylitis 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Spondyloarthropathy (SpA), one of the commonest chronic rheumatic diseases, includes a spectrum of related disorders comprising the prototype ankylosing spondylitis (AS), a subset of psoriatic arthritis (PsA), reactive arthritis (ReA), arthritis associated with inflammatory bowel disease, and undifferentiated ...
Clinical Description OMIM Kidd et al. (1995) described a family in which 7 of 12 members had early onset oligo- or polyarthritis, enthesitis, or both, and fulfilled established criteria for spondyloarthropathy, although none had radiologic evidence of sacroiliitis. The mean age ...
Molecular genetics OMIM The finding of B27 in 16 of 17 AS cases in India and in 2 of 60 controls (Sengupta et al., 1977) appeared to exclude genetic linkage as the basis of the association.

Calin et al. ...

Population genetics OMIM Overall, the prevalence of ankylosing spondylitis is between 0.1% and 1.4%, with most of these data coming from Europe. In mid-Europe, the prevalence is about 0.3 to 0.5% for ankylosing spondylitis and 1 to 2% for the whole ...