Spondyloarthropathy, susceptibility to, 1

Preferred Label : Spondyloarthropathy, susceptibility to, 1;

Symbol : SPDA1;

CISMeF acronym : SPDA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ankylosing spondylitis, susceptibility to; Bechterew syndrome; Marie-strumpell spondylitis;

Description : 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 spondyloarthropathy (Miceli-Richard et al., 2004). These phenotypes are difficult to differentiate because they may occur simultaneously or sequentially in the same patient. Studies have suggested that a predominant shared component, including HLA-B27, predisposes to all phenotypic subsets, and that these subsets should be considered as various phenotypic expressions of the same disease (Said-Nahal et al., 2000, Said-Nahal et al., 2001). Braun and Sieper (2007) provided a detailed review of ankylosing spondylitis, including clinical features, pathogenesis, and management. - Genetic Heterogeneity of Susceptibility to Spondyloarthropathy Additional susceptibility loci for spondyloarthropathy have been identified on chromosome 9q31-q34 (SPDA2; 183840) and chromosome 2q (SPDA3; 613238).;

Inheritance : Multifactorial;

Molecular basis : Susceptibility conferred by mutation in the major histocompatibility complex, class I, B gene (HLA-B, 142830.0001);

Laboratory abnormalities : HLA-B27 haplotype association (95% patients); Rheumatoid factor negative;

Prefixed ID : #106300;

Details

Origin ID

106300;

UMLS CUI

C1862852;

Automatic exact mappings (from CISMeF team)
- rheumatoid/seropositive arthritis [ICPC-2 Rubric]
- spondylarthropathies [MeSH Descriptor]
Currated CISMeF NLP mapping
- Ankylosing Spondylitis [NCIt concept]
- Ankylosing spondylitis [PASCAL descriptor]
- Ankylosing spondylitis [ICD-10 category]
- Ankylosing spondylitis [ORDO Disease]
- Ankylosing spondylitis [ICD-10 category (who)]
- Ankylosing spondylitis [MedDRA Preferred Term]
- Ankylosing spondylitis [ICD-9 code]
- Ankylosing spondylitis (disorder) [SNOMED CT concept]
- Axial spondyloarthritis [ICD-11 Subcategory]
- Rheumatoid spondylitis [MedDRA LLT]
- SPONDYLITIS ANKYLOSING [WHO-ART Preferred Term]
- Spondylitis ankylosing [MedDRA LLT]
- ankylosing spondylitis [Radlex concept]
- ankylosing spondylitis [MedlinePlus Topic]
- ankylosing spondylitis, nos [SNOMED Notion]
- spondylitis, ankylosing [MeSH Descriptor]
- spondylosis deformans [Radlex concept]
DO Cross reference
- ankylosing spondylitis 1 [DO Concept]
HPO term(s)
- Abnormality of cardiac conduction [HPO term]
- Anterior uveitis [HPO term]
- Aortic regurgitation [HPO term]
- Arrhythmia [HPO term]
- Back pain [HPO term]
- Enthesitis [HPO term]
- Heterogeneous [HPO term]
- Hip osteoarthritis [HPO term]
- Inflammation of the large intestine [HPO term]
- Kyphosis [HPO term]
- Multifactorial inheritance [HPO term]
- Oligoarthritis [HPO term]
- Psoriasiform dermatitis [HPO term]
- Sacroiliac arthritis [HPO term]
Not associated HPO term(s)
- Rheumatoid factor positive [HPO term]
ORDO concept(s)
- Ankylosing spondylitis [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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