Arthritis, and Myalgia

Diseases related with Arthritis and Myalgia

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


Top matches:

Medium match FAMILIAL COLD URTICARIA


Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.

FAMILIAL COLD URTICARIA Is also known as fcas|familial cold autoinflammatory syndrome|fcu

Related symptoms:

  • Sensorineural hearing impairment
  • Fever
  • Fatigue
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL COLD URTICARIA

Medium match SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS


Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.

SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia|systemic juvenile rheumatoid arthritis|still disease|systemic polyarthritis

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Visual loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS

Medium match NLRP12-ASSOCIATED HEREDITARY PERIODIC FEVER SYNDROME


NLRP12-associated hereditary periodic fever syndrome is a rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.

NLRP12-ASSOCIATED HEREDITARY PERIODIC FEVER SYNDROME Is also known as familial cold autoinflammatory syndrome type 2|naps12|fcas2

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Fever


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NLRP12-ASSOCIATED HEREDITARY PERIODIC FEVER SYNDROME

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Other less relevant matches:

Medium match PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME


Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014).

PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME Is also known as nlrc4-related macrophage activation syndrome|nlrc4-related infantile enterocolitis-autoinflammatory syndrome|nlrc4-related autoinflammatory syndrome with macrophage activation syndrome|nlrc4-related mas|nlrc4-related autoinflammatory syndrome with mas

Related symptoms:

  • Seizures
  • Short stature
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM


Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM Is also known as gsd due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type iv, fatal perinatal neuromuscular form|tarui disease|glycogenosis type 4, fatal perinatal neuromuscular form|gsd vii|gbe deficiency, fatal perinatal neur

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM

Medium match YAO SYNDROME; YAOS


Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (Yao and Shen, 2017).

Related symptoms:

  • Pain
  • Fever
  • Diarrhea
  • Abdominal pain
  • Weight loss


SOURCES: OMIM MENDELIAN

More info about YAO SYNDROME; YAOS

Medium match TAKAYASU ARTERITIS


Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

Related symptoms:

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about TAKAYASU ARTERITIS

Medium match REYNOLDS SYNDROME


Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).

REYNOLDS SYNDROME Is also known as primary biliary cirrhosis and systemic scleroderma|primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Fatigue
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about REYNOLDS SYNDROME

Medium match MUCKLE-WELLS SYNDROME; MWS


Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002).See also familial cold-induced autoinflammatory syndrome-1 (FCAS1, CAPS1; {120100}), an allelic disorder with overlapping clinical features.

MUCKLE-WELLS SYNDROME; MWS Is also known as caps2|uda syndrome|urticaria-deafness-amyloidosis syndrome|cryopyrin-associated periodic syndrome 2

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about MUCKLE-WELLS SYNDROME; MWS

Low match BUSCHKE-OLLENDORFF SYNDROME


Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Myalgia

Symptoms // Phenotype % cases
Arthralgia Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Fatigue Common - Between 50% and 80% cases
Skin rash Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abdominal pain Splenomegaly Elevated erythrocyte sedimentation rate Seizures Anemia Chest pain Vomiting Episodic fever Lymphadenopathy Diarrhea Sensorineural hearing impairment Hearing impairment Urticaria

Rare Symptoms - Less than 30% cases


Jaundice Skin ulcer Renal insufficiency Scleroderma Leukocytosis Vasculitis Recurrent aphthous stomatitis Short stature Subcutaneous nodule Xerostomia Keratoconjunctivitis sicca Papule Muscle weakness Flexion contracture Weight loss Hypertension Conjunctivitis Pericarditis Hepatomegaly Pruritus Erythema Visual impairment Autoimmunity Nausea and vomiting Uveitis Headache Hepatosplenomegaly Elevated C-reactive protein level Hyperhidrosis Calcinosis Biliary cirrhosis Lichenification Abnormality of the gastric mucosa Mucosal telangiectasiae Esophageal varix Intellectual disability Antinuclear antibody positivity Lip telangiectasia Palmar telangiectasia Calcinosis cutis Generalized abnormality of skin Abnormality of the skeletal system Ichthyosis Stage 5 chronic kidney disease Sclerodactyly Steatorrhea Raynaud phenomenon Cirrhosis Arteritis Hypertensive crisis Increased inflammatory response Dysphagia Respiratory insufficiency Gastroesophageal reflux Elevated hepatic transaminase Abnormality of the liver Ascites Irregular hyperpigmentation Gastrointestinal hemorrhage Cholestasis Telangiectasia Hyperbilirubinemia Encephalitis Elevated alkaline phosphatase Nephropathy Telangiectasia of the skin Hematuria Meningitis Coma Atypical scarring of skin Lymphedema Bone pain Hoarse voice Hemangioma Flat occiput Hyperostosis Multiple lipomas Cutaneous finger syndactyly Generalized hypopigmentation Abnormality of the metaphysis Abnormal cortical bone morphology Generalized osteosclerosis Abnormal aortic morphology Generalized limb muscle atrophy Abnormal bone structure Osteopoikilosis Connective tissue nevi Diffuse skin atrophy Complete duplication of the distal phalanges of the hand Abnormality of epiphysis morphology Nevus Abnormality of the skin Cystinuria Nephrotic syndrome Amaurosis fugax Progressive sensorineural hearing impairment Amyloidosis Abnormality of the mouth Papilledema Microscopic hematuria Chills Band keratopathy Recurrent fractures Renal amyloidosis Rigors Strabismus Skeletal muscle atrophy Abnormality of the dentition Skeletal dysplasia Joint stiffness Craniosynostosis Palmoplantar keratoderma Gastrointestinal infarctions Reduced consciousness/confusion Abnormal endocardium morphology Elevated serum creatine phosphokinase Enterocolitis Disseminated intravascular coagulation Secretory diarrhea Diffuse alveolar hemorrhage Visual loss Cardiomyopathy Blindness Myopathy Respiratory failure Colitis Corneal opacity Limb muscle weakness Nausea Hemolytic anemia Muscle cramps Cerebral visual impairment Exercise intolerance Easy fatigability Increased serum ferritin Loss of consciousness Polycythemia Malar rash Anterior uveitis Juvenile rheumatoid arthritis Bilateral sensorineural hearing impairment Joint swelling Lymphocytosis Lower limb pain Neuritis Limb pain Optic neuritis Abnormality of the coagulation cascade Rheumatoid arthritis Pleural effusion Failure to thrive Falls Tachycardia Pancytopenia Decreased liver function Lymphopenia Cholelithiasis Reticulocytosis Ascending tubular aorta aneurysm Psoriasiform dermatitis Hypertrophic cardiomyopathy Retinopathy Neurological speech impairment Migraine Pulmonary arterial hypertension Myocardial infarction Anorexia Aortic regurgitation Abnormal heart valve morphology Dehydration Hemoptysis Gangrene Cerebral ischemia Serositis Abnormal aortic valve morphology Inflammatory abnormality of the eye Abnormal pattern of respiration Arterial stenosis Dilatation Pleuritis Myoglobinuria Reduced erythrocyte 2,3-diphosphoglycerate concentration Gout Nonspherocytic hemolytic anemia Dark urine Increased total bilirubin Gastric ulcer Exercise-induced muscle cramps Exercise-induced myoglobinuria Increased muscle glycogen content Camptodactyly Oral ulcer Dysesthesia Asthma Ventricular hypertrophy Inflammatory abnormality of the skin Nephrolithiasis Blurred vision Polydipsia Episodic abdominal pain Abnormal axial skeleton morphology



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