Arthritis, and Arthralgia

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

Seborrhea-like dermatitis with psoriasiform elements is a rare, genetic, epidermal disorder characterized by a chronic, diffuse, fine, scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows), around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms.

• Hyperkeratosis
• Arthralgia
• Arthritis
• Skin rash
• Overgrowth

SOURCES: MESH OMIM ORPHANET MENDELIAN

• Fever
• Hyperkeratosis
• Arthralgia
• Arthritis
• Ichthyosis

SOURCES: OMIM MENDELIAN

Familial calcium pyrophosphate deposition (CPPD) is a chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).

FAMILIAL CALCIUM PYROPHOSPHATE DEPOSITION Is also known as hereditary calcium pyrophosphate deposition|familial cc|familial cppd|familial articular chondrocalcinosis|calcium pyrophosphate dihydrate crystal deposition disease|hereditary articular chondrocalcinosis|hereditary cc|chondrocalcinosis with early-onset o

• Seizures
• Arthralgia
• Arthritis
• Limitation of joint mobility
• Osteoarthritis

SOURCES: OMIM ORPHANET MENDELIAN

Chondrocalcinosis, or cartilage calcification, is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage. CPPD crystal deposition may be asymptomatic or associated with characteristic acute attacks ('pseudogout') or chronic arthritis. It can be detected radiographically. Chondrocalcinosis occurs in 3 forms: a primary hereditary form (e.g., CCAL2); a form associated with metabolic disorders (e.g., hyperparathyroidism, hemochromatosis, and hypomagnesemia), and a sporadic form, which may in some cases represent the hereditary form (summary by Hughes et al., 1995 and Richette et al., 2009). Genetic Heterogeneity of ChondrocalcinosisAnother form of chondrocalcinosis (CCAL1 ) has been mapped to chromosome 8q.

CHONDROCALCINOSIS 2; CCAL2 Is also known as calcium pyrophosphate dihydrate deposition disease|cppdd|calcium gout|chondrocalcinosis, familial articular|calcium pyrophosphate arthropathy

• Intellectual disability
• Seizures
• Pain
• Arthralgia
• Arthritis

SOURCES: MESH OMIM MENDELIAN

Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.

COMPLEMENT COMPONENT C1R/C1S DEFICIENCY Is also known as c1r/c1s deficiency

• Arthralgia
• Arthritis
• Autoimmunity
• Nephritis
• Recurrent bronchitis

SOURCES: OMIM MENDELIAN

DFNA34 is an autosomal dominant form of postlingual, slowly progressive sensorineural hearing loss with variable severity and variable additional features. Some patients have pure hearing loss without significant additional features, whereas some patients have features of an autoinflammatory disorder with systemic manifestations, including periodic fevers, arthralgias, and episodic urticaria. The disorder results from abnormally increased activation of the inflammatory pathway, and treatment with an IL1 receptor antagonist (see {147679}) may be effective if started early (summary by Nakanishi et al., 2017).

• Hearing impairment
• Sensorineural hearing impairment
• Fever
• Edema
• Headache

SOURCES: OMIM MENDELIAN

• Arthralgia
• Difficulty walking
• Osteoarthritis
• Epiphyseal dysplasia
• Irregular vertebral endplates

SOURCES: OMIM MENDELIAN

Autoimmune interstitial lung, joint, and kidney disease is an autosomal dominant systemic autoimmune disorder characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease. Laboratory studies show high-titer autoantibodies. Symptoms appear in the first 2 decades of life, but there is incomplete penetrance (summary by Watkin et al., 2015).

AUTOIMMUNE INTERSTITIAL LUNG DISEASE-ARTHRITIS SYNDROME Is also known as copa syndrome

• Pain
• Respiratory distress
• Arthralgia
• Arthritis
• Abnormality of the kidney

SOURCES: OMIM ORPHANET MENDELIAN

Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.

HEREDITARY ARTERIAL AND ARTICULAR MULTIPLE CALCIFICATION SYNDROME Is also known as calcification of joints and arteries|calja|acdc|arterial calcification due to deficiency of cd73

• Pain
• Diabetes mellitus
• Arthralgia
• Arthritis
• Paresthesia

SOURCES: OMIM ORPHANET MESH MENDELIAN