Arthritis, and Vomiting

Diseases related with Arthritis and Vomiting

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


Top matches:

Low match IMMUNODEFICIENCY 57; IMD57


Related symptoms:

  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 57; IMD57

Low match IDIOPATHIC ACHALASIA


Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.

IDIOPATHIC ACHALASIA Is also known as idiopathic achalasia of esophagus|achalasia cardia|primary achalasia

Related symptoms:

  • Pain
  • Dysphagia
  • Vomiting
  • Weight loss
  • Gastroesophageal reflux


SOURCES: ORPHANET OMIM MENDELIAN

More info about IDIOPATHIC ACHALASIA

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

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Other less relevant matches:

Low 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

Low match COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH


Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH Is also known as methylenetetrahydrofolate dehydrogenase 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH

Low match CATARACT-GLAUCOMA SYNDROME


Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pain
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CATARACT-GLAUCOMA SYNDROME

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 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

Low match DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS


Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Hypertension
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS

Low match LESCH-NYHAN SYNDROME; LNS


LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

Top 5 symptoms//phenotypes associated to Arthritis and Vomiting

Symptoms // Phenotype % cases
Pain Common - Between 50% and 80% cases
Fever Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Anemia Flexion contracture Intellectual disability Myalgia Hypertension Fatigue Dysphagia Nausea and vomiting Lymphopenia Skin rash

Rare Symptoms - Less than 30% cases


Respiratory failure Scleroderma Headache Abdominal pain Renal insufficiency Gout Muscle weakness Bilateral sensorineural hearing impairment Pancytopenia Nausea Constipation Malabsorption Intellectual disability, mild Pneumonia Autoimmunity Recurrent urinary tract infections Megaloblastic anemia Generalized hypotonia Failure to thrive Scoliosis Splenomegaly Oral-pharyngeal dysphagia Sensorineural hearing impairment Recurrent infections Immunodeficiency Weight loss Gastroesophageal reflux Chest pain Rheumatoid arthritis Decreased antibody level in blood Hearing impairment Xerostomia Dyslexia Congestive heart failure Dark urine Increased total bilirubin Gastric ulcer Exercise-induced muscle cramps Exercise-induced myoglobinuria Increased muscle glycogen content Reduced erythrocyte 2,3-diphosphoglycerate concentration Excessive purine production Bladder stones Dyspnea Carious teeth Abnormality of the skin Pulmonary arterial hypertension Telangiectasia Skin ulcer Osteolysis Pulmonary fibrosis Nonspherocytic hemolytic anemia Reticulocytosis Myoglobinuria Elevated serum creatine phosphokinase Mucopolysacchariduria Stiff neck Peripheral edema Intestinal polyp Hepatosplenomegaly Cardiomyopathy Blindness Myopathy Jaundice Hyperuricosuria Corneal opacity Limb muscle weakness Hemolytic anemia Muscle cramps Cerebral visual impairment Exercise intolerance Easy fatigability Cholelithiasis Polycythemia Telangiectasia of the skin Pulmonary infiltrates Self-mutilation Focal dystonia Hematuria Nephropathy Chorea Abnormality of extrapyramidal motor function Choreoathetosis Clumsiness Testicular atrophy Nephrolithiasis Stereotypy Irritability Spastic gait Finger clinodactyly Cerebral palsy Self-injurious behavior Proximal placement of thumb Athetosis Opisthotonus Hyperuricemia Hip dislocation Aggressive behavior Osteolytic defects of the phalanges of the hand Muscular hypotonia Oliguria Dyspareunia Decreased urine output Protein-losing enteropathy Narrow foramen obturatorium Facial grimacing Abnormal bowel sounds Global developmental delay Spasticity Rigidity Delayed speech and language development Motor delay Hyperreflexia Dysarthria Hypertonia Behavioral abnormality Dystonia Clinodactyly Clinodactyly of the 5th finger Hypertensive crisis Abnormal intestine morphology Thoracolumbar scoliosis Pallor Enterocolitis Disseminated intravascular coagulation Secretory diarrhea Diffuse alveolar hemorrhage Hoarse voice Aspiration Asthma Acidosis Retinopathy Colitis Metabolic acidosis Cough Leukopenia Combined immunodeficiency Macrocytic anemia Thrombocytosis Severe combined immunodeficiency Antinuclear antibody positivity Anisocytosis Increased serum ferritin Loss of consciousness Folate deficiency Elevated C-reactive protein level Keratoconjunctivitis Achalasia Erythema Lymphadenopathy Urticaria Leukocytosis Episodic fever Recurrent aphthous stomatitis Lymphocytosis Abnormality of the coagulation cascade Lower limb pain Neuritis Limb pain Malar rash Optic neuritis Keratoconjunctivitis sicca Adrenal insufficiency Tachycardia Decreased liver function Hemolytic-uremic syndrome Asthenia Thoracic kyphosis Nail dystrophy Brachydactyly Short neck Edema Kyphosis Alopecia Severe short stature Hypothyroidism Kyphoscoliosis Platyspondyly Chronic lung disease Vasculitis Bronchiectasis Genu valgum Abnormal lung morphology Postural instability Bowing of the long bones Chronic diarrhea Cachexia Malnutrition Inflammation of the large intestine Pulmonary insufficiency Septic arthritis Craniosynostosis Decreased methylcobalamin Thiamine-responsive megaloblastic anemia Feeding difficulties Respiratory distress Abnormality of the dentition Bloody diarrhea Brachycephaly Gastritis Proptosis Waddling gait Premature loss of primary teeth Bone pain Increased intracranial pressure Hypercalcemia Rickets Osteomalacia Premature loss of teeth Papilledema Chondrocalcinosis Chronic pain Podagra



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