Abnormality of the skeletal system, and Arthritis

URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4 Is also known as gout susceptibility 4|gout4

• Gout

SOURCES: OMIM MENDELIAN

Gout is a common disorder resulting from tissue deposition of monosodium urate crystals as a consequence of hyperuricemia. Patients with gout experience very painful attacks caused by precipitation of urate in joints, which triggers subsequent inflammation. Elevated serum uric acid concentration is a key risk factor for gout (summary from Matsuo et al., 2009 and Woodward et al., 2011). Genetic Heterogeneity of Serum Uric Acid Concentration Quantitative Trait LociSee also UAQTL2 (see {612076}), conferred by variation in the SLC2A9 gene (OMIM ) on chromosome 4p; UAQTL4 (OMIM ), conferred by variation in the SLC17A3 gene (OMIM ) on chromosome 6p21; UAQTL5 (OMIM ), associated with a SNP on chromosome 19q13; and UAQTL6 (OMIM ), associated with a SNP on chromosome 1.

URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1 Is also known as gout1|gout susceptibility 1

• Arthritis
• Abnormality of the skin
• Hyperuricemia
• Gout

SOURCES: OMIM MENDELIAN

In the hand, osteoarthritis can develop in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints (Stefansson et al., 2003). Patients with osteoarthritis may have one, a few, or all of these sites affected. Heberden nodes are bony excrescences of the phalanges of the distal interphalangeal joints of the fingers (Stecher, 1955). They can be considered a variety of osteoarthrosis, or degenerative arthritis.For a phenotypic description and a discussion of genetic heterogeneity of osteoarthritis, see OS1 (OMIM ).

OSTEOARTHRITIS SUSCEPTIBILITY 2; OS2 Is also known as dipoa|hoa|hand osteoarthritis|oadip|osteoarthritis of distal interphalangeal joints

• Arthritis
• Osteoarthritis
• Heberden's node

SOURCES: OMIM MENDELIAN

OSTEOARTHRITIS SUSCEPTIBILITY 3; OS3 Is also known as osteoarthritis of knee/hip

• Arthralgia
• Joint stiffness
• Osteoarthritis of the first carpometacarpal joint
• Osteoarthritis of the distal interphalangeal joint

SOURCES: OMIM MENDELIAN

Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence. Genetic Heterogeneity of Susceptibility to OsteoarthritisSusceptibility to osteoarthritis has been associated with variation in other genes: OS2 (OMIM ) with variation in the MATN3 gene (OMIM ) on chromosome 2p24; OS3 (OMIM ) with variation in the ASPN gene (OMIM ) on chromosome 9q22; and OS5 (OMIM ) with variation in the GDF5 gene (OMIM ) on chromosome 20q11.Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4 ) and 3p24 (OS6 ).

OSTEOARTHRITIS SUSCEPTIBILITY 1; OS1 Is also known as oa|osteoarthrosis|osteoarthritis of hip, female-specific, susceptibility to

• Pain
• Joint stiffness
• Osteoarthritis
• Abnormality of pelvic girdle bone morphology
• Hip osteoarthritis

SOURCES: OMIM MENDELIAN

Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984).Two types of inherited C8 deficiency have been reported in man: type I (OMIM ), in which only C8 alpha (C8A, {120950}) and C8 gamma (C8G ) are deficient, and type II, in which only C8 beta is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2 Is also known as c8b deficiency|complement component 8b deficiency|c8 beta deficiency|c8 deficiency, type ii

• Arthritis
• Meningitis
• Antinuclear antibody positivity
• C8 deficiency
• Recurrent Neisserial infections

SOURCES: OMIM MENDELIAN

Recurrent invasive pneumococcal disease (IPD) is defined as 2 episodes of IPD occurring at least 1 month apart, whether caused by the same or different serotypes or strains (Ku et al., 2007). Recurrent IPD occurs in at least 2% of patients in most series, making IPD the most important known risk factor for subsequent IPD.

• Headache
• Arthritis
• Meningitis
• Recurrent streptococcus pneumoniae infections

SOURCES: MESH OMIM MENDELIAN

Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.

HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY Is also known as hprt deficiency, grade i|hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial|hypoxanthine guanine phosphoribosyltransferase deficiency, grade i|hprt-related hyperuricemia|hprt1 partial deficiency|gout, hprt-related|hprt1 deficiency, parti

• Fever
• Renal insufficiency
• Arthritis
• Nephropathy
• Nephrolithiasis

SOURCES: MESH OMIM ORPHANET MENDELIAN

Juvenile psoriatic arthritis is a relatively rare form of juvenile idiopathic arthritis (JIA) representing less than 10% of all JIA cases.

PSORIASIS-RELATED JUVENILE IDIOPATHIC ARTHRITIS Is also known as psoriasis-related jia|juvenile psoriatic arthritis

• Arthritis
• Autoimmunity
• Inflammatory abnormality of the skin
• Psoriasiform dermatitis
• Juvenile rheumatoid arthritis

SOURCES: OMIM ORPHANET MENDELIAN

Synovial sarcoma is an aggressive soft tissue sarcoma (see this term), occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).

SYNOVIAL SARCOMA Is also known as synovialosarcoma

• Neoplasm
• Pain
• Arthritis
• Sarcoma
• Schwannoma

SOURCES: OMIM ORPHANET MENDELIAN