Arthritis, and Arthralgia

Diseases related with Arthritis and Arthralgia

In the following list you will find some of the most common rare diseases related to Arthritis and Arthralgia that can help you solving undiagnosed cases.


Top matches:

Medium match OSTEOARTHRITIS SUSCEPTIBILITY 3; OS3


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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OSTEOARTHRITIS SUSCEPTIBILITY 3; OS3

Medium match SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS


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.

Related symptoms:

  • Hyperkeratosis
  • Arthralgia
  • Arthritis
  • Skin rash
  • Overgrowth


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS

Medium match PSORIASIS 2; PSORS2


Related symptoms:

  • Fever
  • Hyperkeratosis
  • Arthralgia
  • Arthritis
  • Ichthyosis


SOURCES: OMIM MENDELIAN

More info about PSORIASIS 2; PSORS2

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Other less relevant matches:

Medium match FAMILIAL CALCIUM PYROPHOSPHATE DEPOSITION


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

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL CALCIUM PYROPHOSPHATE DEPOSITION

Medium match CHONDROCALCINOSIS 2; CCAL2


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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Pain
  • Arthralgia
  • Arthritis


SOURCES: MESH OMIM MENDELIAN

More info about CHONDROCALCINOSIS 2; CCAL2

Medium match COMPLEMENT COMPONENT C1R/C1S DEFICIENCY


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

Related symptoms:

  • Arthralgia
  • Arthritis
  • Autoimmunity
  • Nephritis
  • Recurrent bronchitis


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT C1R/C1S DEFICIENCY

Medium match DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION; DFNA34


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).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION; DFNA34

Medium match EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6

Medium match AUTOIMMUNE INTERSTITIAL LUNG DISEASE-ARTHRITIS SYNDROME


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

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE INTERSTITIAL LUNG DISEASE-ARTHRITIS SYNDROME

Medium match HEREDITARY ARTERIAL AND ARTICULAR MULTIPLE CALCIFICATION SYNDROME


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

Related symptoms:

  • Pain
  • Diabetes mellitus
  • Arthralgia
  • Arthritis
  • Paresthesia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HEREDITARY ARTERIAL AND ARTICULAR MULTIPLE CALCIFICATION SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Arthralgia

Symptoms // Phenotype % cases
Pain Uncommon - Between 30% and 50% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
Parakeratosis Rare - less than 30% cases
Autoimmunity Rare - less than 30% cases
Abnormal joint morphology Rare - less than 30% cases
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Other less frequent symptoms

Patients with Arthritis and Arthralgia. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Seizures Rheumatoid arthritis Fever Chondrocalcinosis Psoriasiform dermatitis Inflammatory abnormality of the skin Hyperkeratosis Epidermal acanthosis Respiratory distress Glomerulonephritis Tachypnea Abnormal vascular morphology Abnormal lung morphology Cough Abnormality of the kidney Irregular distal femoral epiphysis Flat distal femoral epiphysis Interstitial pulmonary abnormality Schmorl's node Arthralgia of the hip Flat capital femoral epiphysis Irregular epiphyses Small epiphyses Abnormality of the knee Multiple epiphyseal dysplasia Elevated erythrocyte sedimentation rate Periarticular calcification Pathologic fracture Abnormality of the vertebral column Arterial calcification Ectopic ossification Intermittent claudication Abnormality of cardiovascular system physiology Arterial tortuosity Gangrene Generalized arterial calcification Coronary artery calcification Arterial occlusion Type II diabetes mellitus Paresthesia Epiphyseal dysplasia Diabetes mellitus Crescentic glomerulonephritis Pulmonary hemorrhage Aseptic necrosis Irregular vertebral endplates Lymphadenopathy Difficulty walking Atopic dermatitis Calcification of cartilage Abnormality of the intervertebral disk Joint swelling Joint dislocation Limitation of joint mobility Diffuse skin atrophy Orthokeratosis Scaling skin Back pain Dermal atrophy Ichthyosis Seborrheic dermatitis Overgrowth Skin rash Osteoarthritis of the distal interphalangeal joint Osteoarthritis of the first carpometacarpal joint Intellectual disability Hyperparathyroidism Cervical lymphadenopathy Sensorineural hearing impairment Urticaria Progressive hearing impairment Conjunctivitis Migraine Joint stiffness Headache Edema Hearing impairment Arthropathy Discoid lupus rash Complement deficiency Recurrent bronchitis Nephritis Polyarticular chondrocalcinosis Neck pain Hypomagnesemia Ankylosis Decreased serum creatinine



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Overgrowth, related diseases and genetic alterations

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