Arthritis, and Abdominal pain

Diseases related with Arthritis and Abdominal pain

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


Top matches:

Low match FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT


FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT Is also known as fmf, autosomal dominant

Related symptoms:

  • Pain
  • Fever
  • Renal insufficiency
  • Abdominal pain
  • Arthralgia


SOURCES: MESH OMIM MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT

Low 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

Low 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

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Other less relevant matches:

Low match SITOSTEROLEMIA


Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.

SITOSTEROLEMIA Is also known as stsl|phytosterolemia

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Splenomegaly
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SITOSTEROLEMIA

Low match HEMOCHROMATOSIS TYPE 3


Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 3 Is also known as tfr2-related hemochromatosis|hemochromatosis due to defect in transferrin receptor 2

Related symptoms:

  • Pain
  • Anemia
  • Fatigue
  • Cardiomyopathy
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 3

Low 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

Low match HEMOCHROMATOSIS TYPE 4


Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 4 Is also known as autosomal dominant hereditary hemochromatosis|hemochromatosis due to defect in ferroportin|hemochromatosis, autosomal dominant|ferroportin disease

Related symptoms:

  • Pain
  • Cataract
  • Anemia
  • Fatigue
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 4

Low match HEMOCHROMATOSIS TYPE 2


Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

Low match PARASTREMMATIC DWARFISM


Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Brachydactyly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PARASTREMMATIC DWARFISM

Low 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

Top 5 symptoms//phenotypes associated to Arthritis and Abdominal pain

Symptoms // Phenotype % cases
Arthralgia Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Fever Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Abnormality of the liver Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Myalgia Increased serum ferritin Cirrhosis Cardiomyopathy Anemia Skin rash Impotence Chest pain Episodic fever

Rare Symptoms - Less than 30% cases


Pericarditis Diarrhea Elevated hepatic transaminase Lymphadenopathy Vomiting Rheumatoid arthritis Elevated erythrocyte sedimentation rate Joint swelling Uveitis Elevated C-reactive protein level Amenorrhea Increased serum iron Short stature Hyperpigmentation of the skin Autoimmunity Sensorineural hearing impairment Hypogonadotrophic hypogonadism Pleuritis Headache Arrhythmia Erythema Generalized hyperpigmentation Nausea and vomiting Congenital hepatic fibrosis Hepatomegaly Urticaria Flexion contracture Scoliosis Abnormality of iron homeostasis Abnormality of endocrine pancreas physiology Abnormality of the anterior pituitary Brachydactyly Elevated transferrin saturation Short neck Arthropathy Polyarticular arthritis Portal hypertension Azoospermia Infertility Delayed puberty Lethargy Dilated cardiomyopathy Diabetes mellitus Hypogonadism Osteoporosis Congestive heart failure Hypertension Muscle weakness Glucose intolerance Joint dislocation Edema Malabsorption Kyphosis Asthma Stiff neck Peripheral edema Intestinal polyp Weight loss Camptodactyly Papule Ventricular hypertrophy Protein-losing enteropathy Inflammatory abnormality of the skin Nephrolithiasis Blurred vision Keratoconjunctivitis sicca Xerostomia Episodic abdominal pain Mucopolysacchariduria Thoracolumbar scoliosis Alopecia Genu valgum Severe short stature Hypothyroidism Kyphoscoliosis Nail dystrophy Platyspondyly Osteoarthritis Nausea Thoracic kyphosis Postural instability Bowing of the long bones Chronic diarrhea Abnormal intestine morphology Cachexia Malnutrition Scleroderma Hepatic fibrosis Recurrent aphthous stomatitis Limitation of joint mobility Anterior uveitis Xanthomatosis Spinal cord compression Reticulocytosis Coronary artery atherosclerosis Hypercholesterolemia Atherosclerosis Hyperbilirubinemia Abnormality of the cardiovascular system Abnormal bleeding Hemolytic anemia Paraplegia Amyloidosis Serositis Juvenile rheumatoid arthritis Stomatocytosis Pleural effusion Falls Peritonitis Hepatosplenomegaly Visual loss Visual impairment Dysesthesia Polydipsia Conjunctivitis Dehydration Pruritus Erysipelas Hyperhidrosis Renal amyloidosis Impaired platelet aggregation Hypersplenism Hepatic steatosis Renal insufficiency Scarring Respiratory distress Cataract Optic neuritis Malar rash Limb pain Neuritis Lower limb pain Lymphocytosis Leukocytosis Bilateral sensorineural hearing impairment Hearing impairment Intellectual disability Proteinuria Increased mean platelet volume Purpura Lymphopenia Neutropenia Stage 5 chronic kidney disease Hyperapobetalipoproteinemia Tuberous xanthoma Episodic hemolytic anemia Abnormality of the integument Accelerated atherosclerosis Chronic hemolytic anemia Premature coronary artery atherosclerosis Giant platelets Xanthelasma Macrothrombocytopenia Oral ulcer



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Mendelian tool does not provide medical advice. It is intended for informational purposes only. It is not a substitute for professional medical advice, diagnosis or treatment. It does not diagnose, it produces a ranked list of suspected genes which provide assistance for rare hereditary disease cases. Patients should discuss their findings with their healthcare provider
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