Arthritis, and Anorexia

Diseases related with Arthritis and Anorexia

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


Top matches:

Medium match BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY


Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.

BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY Is also known as mat deficiency|mat i/iii deficiency|hypermethioninemia, isolated persistent|methionine adenosyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY

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 BARTTER SYNDROME, TYPE 3; BARTS3


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). Genetic Heterogeneity of Bartter SyndromeAntenatal Bartter syndrome type 1 (OMIM ) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1 ). Antenatal Bartter syndrome type 2 (OMIM ) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1 ). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A (OMIM ), is caused by mutation in the BSND gene (OMIM ). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B (OMIM ), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes.Also see autosomal dominant hypocalcemia-1 with Bartter syndrome (OMIM ), which is sometimes referred to as Bartter syndrome type 5 (Fremont and Chan, 2012), caused by mutation in the CASR gene (OMIM ).See Gitelman syndrome (GTLMN ), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (OMIM ).

BARTTER SYNDROME, TYPE 3; BARTS3 Is also known as bartter syndrome, classic

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 3; BARTS3

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Other less relevant matches:

Medium match GIANT CELL ARTERITIS


Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.

GIANT CELL ARTERITIS Is also known as horton disease|giant cell arteritis|temporal arteritis|cranial arteritis|polymyalgia rheumatica|gca

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about GIANT CELL ARTERITIS

Medium match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

Medium match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Medium match SARCOIDOSIS


Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

Medium match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Medium match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Low match CHOLANGIOCARCINOMA


Cholangiocarcinoma (CCA) is a biliary tract cancer (BTC, see this term) originating in the epithelium of the biliary tree, either intra or extra hepatic.

CHOLANGIOCARCINOMA Is also known as bile duct cancer|cca

Related symptoms:

  • Fever
  • Fatigue
  • Abdominal pain
  • Jaundice
  • Pruritus


SOURCES: ORPHANET MENDELIAN

More info about CHOLANGIOCARCINOMA

Top 5 symptoms//phenotypes associated to Arthritis and Anorexia

Symptoms // Phenotype % cases
Fever Common - Between 50% and 80% cases
Fatigue Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Headache Abdominal pain Anemia Chest pain Dyspnea Hearing impairment Cataract Edema Arthralgia Pain Hypertension Hematuria Subcutaneous nodule Aortic regurgitation Paresthesia Ataxia Cough Congestive heart failure Growth delay Depressivity Arrhythmia Myalgia Short stature Abnormal myocardium morphology Lymphadenopathy Thrombocytopenia Malabsorption Intellectual disability Papule Splenomegaly Pancytopenia Diarrhea Elevated erythrocyte sedimentation rate Diabetes insipidus Meningitis Sudden cardiac death Vertigo Visual impairment Peripheral neuropathy Stroke Blindness Proteinuria Alopecia Syncope Muscle weakness Pulmonary arterial hypertension Retinopathy Myocardial infarction Vasculitis Hemoptysis Cerebral ischemia Gangrene Hyperhidrosis Cognitive impairment Interstitial pulmonary abnormality Nystagmus Dilatation

Rare Symptoms - Less than 30% cases


Abnormality of the pleura Pericarditis Arterial thrombosis Hemiplegia Ventricular tachycardia Leukopenia Emphysema Behavioral abnormality Glaucoma Portal hypertension Abnormality of the gastrointestinal tract Increased antibody level in blood Epistaxis Tubulointerstitial nephritis Hepatic failure Corneal opacity Delayed puberty Abdominal distention Abnormality of the cardiovascular system Reduced bone mineral density Clubbing Edema of the lower limbs Pruritus Joint stiffness Reduced visual acuity Nausea and vomiting Photophobia Abnormal lung morphology Urinary incontinence Nephropathy Hemolytic anemia Abnormality of skin pigmentation Dementia Hypothyroidism Failure to thrive Global developmental delay Palpitations Iridocyclitis Anterior uveitis Chorioretinitis Erythema nodosum Uveitis Developmental regression Aseptic necrosis Keratoconjunctivitis sicca Glomerulopathy Blurred vision Epiphora Inflammation of the large intestine Pleural effusion Mitral regurgitation Memory impairment Confusion Osteolysis Scarring Erythema Respiratory insufficiency Hepatomegaly Muscle cramps Tachycardia Vomiting Polyuria Sensorineural hearing impairment Increased inflammatory response Abnormality of the nervous system Hyperreflexia Hypercalcemia Tremor Hypercalciuria Arteritis Gastrointestinal infarctions Abnormality of the eye Amaurosis fugax Homocystinuria Hypertrophic cardiomyopathy Nephrocalcinosis Optic atrophy Skin ulcer Migraine Neurological speech impairment Hypotension Abnormal aortic valve morphology Abnormal heart valve morphology Visual loss Abnormal endocardium morphology Abnormality of eye movement Horizontal supranuclear gaze palsy Midface retrusion Biliary tract obstruction Puberty and gonadal disorders Cardiomyopathy Abnormal platelet function Posteriorly rotated ears Decreased beta-glucocerebrosidase protein and activity Cardiac valve calcification Orthopnea Vascular calcification Hematological neoplasm Erlenmeyer flask deformity of the femurs Constipation Conductive hearing impairment Hyperkeratosis Ventricular hypertrophy Purpura Aminoaciduria Exercise intolerance Spontaneous abortion Abnormal autonomic nervous system physiology Fasciculations Bradycardia Lymphedema Hypohidrosis Left ventricular hypertrophy Atrial fibrillation Thick lower lip vermilion Nephrotic syndrome Mandibular prognathia Mitral valve prolapse Thick vermilion border Thick eyebrow Bulbous nose Nausea Stage 5 chronic kidney disease Abnormality of the cerebral white matter Prominent nasal bridge Arthralgia of the hip Abnormality of the kidney Anxiety Carcinoma Coarse facial features Skin rash Hypersplenism Flank pain Abnormality of the liver Increased bone mineral density Bone pain Hepatic fibrosis Decreased body weight Osteoarthritis Progressive neurologic deterioration Apraxia Cyanosis Parkinsonism Generalized myoclonic seizures Abnormal bleeding Ascites Oculomotor apraxia Bruising susceptibility Cirrhosis Peripheral demyelination EEG abnormality Hepatosplenomegaly Osteopenia Osteoporosis Myoclonus Recurrent respiratory infections Delayed skeletal maturation Kyphosis Myopia Spastic paraparesis Increased susceptibility to fractures Abnormality of bone marrow cell morphology Bipolar affective disorder Spontaneous hematomas Fractures of the long bones Abnormal intestine morphology Esodeviation Periorbital edema Generalized osteosclerosis Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Multiple myeloma Supranuclear gaze palsy Vertebral compression fractures Increased serum ferritin Hepatocellular carcinoma Cholelithiasis Gingival bleeding Protuberant abdomen Exertional dyspnea Pathologic fracture Pericardial effusion Petechiae Abnormality of coagulation Osteomyelitis Menorrhagia Leukocytosis Dystonia Abnormality of the thorax Hyperlipidemia Chronic kidney disease Progressive hearing impairment Retinal vascular tortuosity Obstructive lung disease Angiokeratoma Reduced sperm motility Increased blood urea nitrogen Distal renal tubular acidosis Vascular tortuosity Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Vascular skin abnormality Hyposthenuria Decreased female libido Abnormality of cardiovascular system physiology Biventricular hypertrophy Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Supraventricular arrhythmia Dysesthesia Abnormal cornea morphology Abnormality of the renal tubule Abnormal thrombosis Tubulointerstitial fibrosis Impaired temperature sensation Shortened QT interval Abnormal renal physiology Left ventricular septal hypertrophy Acholic stools Jaundice Cornea verticillata Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Heavy proteinuria Tenesmus Tortuosity of conjunctival vessels Angiokeratoma corporis diffusum Hyperkeratotic papule Abnormality of the forehead Abnormality of glycosphingolipid metabolism Impaired renal concentrating ability Functional abnormality of the gastrointestinal tract ST segment depression Unexplained fevers Mucosal telangiectasiae Concentric hypertrophic cardiomyopathy Coronary artery stenosis Shortened PR interval Decreased lacrimation Chronic pain Miosis Corneal dystrophy Tricuspid regurgitation Renal tubular acidosis Glycosuria Telangiectasia of the skin Celiac disease Orthostatic hypotension Progressive sensorineural hearing impairment Coronary artery atherosclerosis Impotence Bundle branch block Loss of consciousness Anhidrosis Impaired vibratory sensation Aortic root aneurysm Heart murmur Personality changes Polydipsia Glomerulosclerosis Abnormality of the hand Prominent supraorbital ridges Spasticity Atrioventricular block Easy fatigability Tinnitus Ventricular arrhythmia Ischemic stroke Wheezing Abnormality of lipid metabolism T-wave inversion Chronic obstructive pulmonary disease Gastrointestinal dysmotility Periorbital fullness Abnormal mitral valve morphology Asymmetric septal hypertrophy High-frequency hearing impairment Restrictive cardiomyopathy Abnormality of the nose Abnormality of femur morphology Chronic fatigue Myocardial fibrosis Sinus bradycardia Achalasia Angina pectoris Abnormal EKG Clubbing of fingers Peripheral arterial stenosis Reduced ejection fraction Heat intolerance Supraventricular tachycardia Large earlobe Oligospermia Tubular atrophy Elevated serum creatinine Renal tubular dysfunction Transient ischemic attack Xerostomia Motor delay Abnormal liver parenchyma morphology Strabismus Stomatitis Iritis Posterior uveitis Polyhydramnios Optic neuritis Small for gestational age Immunologic hypersensitivity Thrombophlebitis Pleuritis Oral ulcer Endocarditis Alopecia areata Recurrent aphthous stomatitis Orchitis Myositis Raynaud phenomenon Pulmonary infiltrates Pustule Generalized muscle weakness Premature birth Pulmonary embolism Growth hormone deficiency Dehydration Hypocalcemia Acne Retrobulbar optic neuritis Superficial thrombophlebitis Hypokalemia Cerebral cortical atrophy Lower limb muscle weakness Congenital cataract Lethargy Hip dislocation Feeding difficulties in infancy Mental deterioration Difficulty walking Macrotia High forehead Acidosis Gait ataxia Intellectual disability, severe Panuveitis Hydrocephalus Hypertensive crisis Feeding difficulties Low-set ears Muscular hypotonia Abnormal facial shape Microcephaly Generalized hypotonia Hypopyon Decreased level of D-mannose in urine Epididymitis Genital ulcers Rheumatoid arthritis Encephalitis Unsteady gait Visual field defect Glossitis Impaired mastication Abdominal aortic aneurysm Mediastinal lymphadenopathy Hypokalemic metabolic alkalosis Recurrent pharyngitis Abnormal thrombocyte morphology Hypokalemic alkalosis Aortic dissection Abnormal choroid morphology Azotemia Increased urinary potassium Retinal arteritis Ophthalmoparesis Renal potassium wasting Diplopia Hyperactive renin-angiotensin system Optic disc pallor Hyperchloriduria Abnormal sclera morphology Secondary hyperaldosteronism Impaired reabsorption of chloride Abnormality of prostaglandin metabolism Ptosis Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Jaw claudication Increased intracranial pressure Autoimmunity Venous thrombosis Cranial nerve paralysis Pancreatitis Hemiparesis Abnormal blistering of the skin Gastrointestinal hemorrhage Glomerulonephritis Rickets Hyperkalemia Polycythemia Abnormal pyramidal sign Hyperaldosteronism Neoplasm Hyperphosphatemia Irritability Hypomagnesemia Renal salt wasting Alkalosis Chondrocalcinosis Abnormality of the retinal vasculature Metabolic alkalosis Increased circulating renin level Respiratory arrest Gait disturbance Hypocalciuria Smooth philtrum Retinal degeneration Scoliosis Heart block Anterior synechiae of the anterior chamber Night sweats Skin nodule Bone cyst Immune dysregulation Macular edema Upper airway obstruction Hepatitis Dysdiadochokinesis Hypothermia Increased CSF protein Joint swelling Vitreous hemorrhage Optic neuropathy Hyperuricemia Hyperthyroidism Abnormality of the musculature Gout Chorioretinal atrophy CNS demyelination Pulmonary fibrosis Hypertyrosinemia Eosinophilia Hypermethioninemia Pneumothorax Chylothorax Decreased liver function Enlargement of parotid gland Abnormal trabecular meshwork morphology Pulmonary granulomatosis Vitreous snowballs Enlarged lacrimal glands Maculopapular exanthema Abnormality of the nasal mucosa Increased T cell count Abnormal cardiac ventricular function Parotitis Non-caseating epithelioid cell granulomatosis Abnormality of T cell physiology Posterior vitreous detachment Cystoid macular edema Abnormality of skin morphology Abnormal reproductive system morphology Vitritis Vitreous floaters Abnormal conjunctiva morphology Abnormal salivary gland morphology Dacryocystitis Abnormality of the adrenal glands Abnormality of the lymph nodes Skin plaque Generalized lymphadenopathy Abnormality of the cerebrospinal fluid Halitosis Hyperpigmentation of the skin Ascending tubular aorta aneurysm Broad-based gait Cor pulmonale Megaloblastic anemia Thromboembolism Disproportionate tall stature Apathy Ectopia lentis Reduced consciousness/confusion Slurred speech Atherosclerosis Abnormality of retinal pigmentation Recurrent urinary tract infections Psychosis Myelopathy Abnormality of extrapyramidal motor function Pigmentary retinopathy Aciduria Inflammatory abnormality of the eye Neutropenia Metabolic acidosis Hepatic steatosis Abnormal pattern of respiration Arterial stenosis Joint hypermobility Long face Methylmalonic aciduria Gastritis Bronchiectasis Hypomethioninemia Nephrolithiasis Hypopigmentation of the skin Facial palsy Proximal muscle weakness Psoriasiform dermatitis Respiratory distress Skeletal muscle atrophy Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Cystathioninuria Right ventricular failure Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Abnormality of macular pigmentation Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Biliary tract neoplasm



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Thrombocytopenia, related diseases and genetic alterations Hyperreflexia and Joint stiffness, related diseases and genetic alterations Immunodeficiency and Dilatation, related diseases and genetic alterations Cardiomyopathy and Thick eyebrow, related diseases and genetic alterations Cleft palate and Polyhydramnios, related diseases and genetic alterations Cleft palate and Pes cavus, related diseases and genetic alterations

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