Arthritis, and Aciduria

Diseases related with Arthritis and Aciduria

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


Top matches:

Low 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

Low match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF


cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Low 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

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Other less relevant matches:

Low match ALKAPTONURIA


Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).

ALKAPTONURIA Is also known as homogentisic acid oxidase deficiency|hereditary ochronosis

Related symptoms:

  • Pain
  • Cognitive impairment
  • Hypertension
  • Kyphosis
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ALKAPTONURIA

Low match BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA


Beta-aminoisobutyric acid (BAIB) is a product of pyrimidine catabolism. Excretion of BAIB in urine is a benign 'metabolic polymorphism' present in many human populations (Scriver and Perry, 1989).

BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA Is also known as hyper-beta-aminoisobutyric aciduria|beta-aminoisobutyric acid, urinary excretion of|baib urinary excretion

Related symptoms:

  • Aminoaciduria


SOURCES: MESH OMIM MENDELIAN

More info about BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA

Low match WILSON DISEASE


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Low match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Low 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

Low match MARFAN SYNDROME; MFS


A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

Low match HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY


Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.

HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY Is also known as hprt deficiency, grade i|hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial|hypoxanthine guanine phosphoribosyltransferase deficiency, grade i|hprt-related hyperuricemia|hprt1 partial deficiency|gout, hprt-related|hprt1 deficiency, parti

Related symptoms:

  • Fever
  • Renal insufficiency
  • Arthritis
  • Nephropathy
  • Nephrolithiasis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY

Top 5 symptoms//phenotypes associated to Arthritis and Aciduria

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Arthralgia Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Fever Homocystinuria Failure to thrive Anemia Growth delay Seizures Ataxia Thrombocytopenia Skin rash Back pain Aminoaciduria Nephrolithiasis Psychosis Cataract Nephropathy Fatigue Global developmental delay Hepatosplenomegaly Joint hypermobility Depressivity Tremor

Rare Symptoms - Less than 30% cases


Peripheral neuropathy Leukocytosis Flexion contracture Kyphosis Hypertension Long face Chills Recurrent aphthous stomatitis Amyloidosis Elevated erythrocyte sedimentation rate Vasculitis Urticaria Conjunctivitis Abnormality of skin pigmentation Nephrotic syndrome Coma Hematuria Hemolytic anemia Lymphadenopathy Myalgia Hepatic steatosis Nausea Peripheral axonal neuropathy Hepatomegaly Weight loss Edema Vomiting Neoplasm Low back pain Splenomegaly Joint swelling Disproportionate tall stature Dementia Arthropathy Premature osteoarthritis Scoliosis Difficulty walking Aortic aneurysm Proteinuria Spontaneous abortion Atherosclerosis Infertility Microcephaly Confusion Paresthesia Osteoarthritis Ectopia lentis Episodic fever Abdominal pain Muscular hypotonia Abnormality of the skin Neutropenia Lethargy Respiratory insufficiency Feeding difficulties in infancy Acidosis Muscle weakness Feeding difficulties Diarrhea High palate Low-set ears Apathy Congestive heart failure Gout Aortic regurgitation Anorexia Hepatitis Abnormality of the liver Abnormality of the eye Abnormality of the nervous system Headache Dystonia Cognitive impairment Nystagmus Pancytopenia Polyneuropathy Megaloblastic anemia Hearing impairment Decreased methionine synthase activity Decreased adenosylcobalamin Methylmalonic acidemia Cystathioninuria Cystathioninemia Methylmalonic aciduria Decreased methylcobalamin Hyperhomocystinemia Abnormality of the skeletal system Downslanted palpebral fissures Cervical lymphadenopathy Myopia Congenital cataract Serositis Optic neuritis Macrotia Myopathy Strabismus Neutrophilia Malar flattening Dilatation Erysipelas Abnormality of cardiovascular system morphology Mental deterioration Retinopathy Kyphoscoliosis Gastroesophageal reflux Neuritis Glaucoma Hip dislocation Pes cavus Hernia Arrhythmia Visual loss Clinodactyly Porokeratosis Thyroglossal cyst Pectus excavatum Micrognathia Decreased methylmalonyl-CoA mutase activity Diffuse hepatic steatosis Pigmentary retinopathy Slurred speech Abnormality of retinal pigmentation Visual impairment Recurrent urinary tract infections Broad-based gait Pulmonary arterial hypertension Abnormality of extrapyramidal motor function Hydrocephalus Abnormal facial shape Retinal degeneration Reduced visual acuity Metabolic acidosis Urinary incontinence Memory impairment Intellectual disability, severe Gait ataxia Hemiplegia Unsteady gait Cerebral cortical atrophy Hemolytic-uremic syndrome Hypomethioninemia Vitamin B12 deficiency Urogenital fistula Delirium Abnormality of macular pigmentation Chronic hemolytic anemia Atrophy of the spinal cord Right ventricular failure Smooth philtrum Gastritis Myelopathy Malabsorption High forehead Retrognathia Thromboembolism Lower limb muscle weakness Pharyngitis Cor pulmonale Redundant skin Pes planus Aortic dissection Thoracic aortic aneurysm Overbite Ascending tubular aorta aneurysm Hypoplasia of the musculature Pneumothorax Pulmonary edema Spondylolisthesis Genu recurvatum Tricuspid valve prolapse Thoracic kyphosis Obstructive sleep apnea Meningocele Arachnoid cyst Hypoplasia of the iris Subarachnoid hemorrhage Megalocornea Dilatation of the cerebral artery Endocarditis Dural ectasia Striae distensae Incisional hernia Excessive purine production Hyperuricosuria Acute kidney injury Hyperuricemia Inferior oblique muscle overaction Medial rotation of the medial malleolus Mitral annular calcification Pulmonary artery dilatation Increased axial length of the globe Protrusio acetabuli Anisometropia Overjet Spontaneous pneumothorax Cystic medial necrosis Microspherophakia Hypertropia Flat cornea Hypopnea Aortic root aneurysm Slender finger Deeply set eye Retinal detachment Mitral regurgitation Cardiomegaly Mitral valve prolapse Abnormality of the cardiovascular system Overgrowth Esotropia Dental malocclusion Chest pain High, narrow palate Decreased body weight Arachnodactyly Dolichocephaly Pectus carinatum Stroke Hyperlordosis Apnea Camptodactyly Joint laxity Abnormal lung morphology Dental crowding Abnormality of the sternum Hammertoe Reduced subcutaneous adipose tissue Restrictive ventilatory defect Decreased muscle mass Open bite Emphysema Large for gestational age Rocker bottom foot Epiphora Heart murmur Tall stature Congenital contracture Peritonitis Sleep apnea Narrow palate Elbow flexion contracture Narrow face Exotropia Amblyopia Increased IgA level Neoplasm of the liver Large forehead Hearing abnormality Calcification of cartilage Intervertebral disc degeneration Mitral valve calcification Aortic valve calcification Dark urine Chronic pain Abnormality of the nose Ankylosis Prostatitis Irregular hyperpigmentation Abnormal joint morphology Abnormal heart valve morphology Hyperparathyroidism Vertebral fusion Abnormality of the ear Abnormality of the urinary system Cartilage destruction Coronary artery calcification Abnormality of vision Osteoporosis Abnormality of the cerebral white matter Pruritus Aggressive behavior Anxiety Elevated hepatic transaminase Rigidity Jaundice Cerebral atrophy Tendon rupture Dysphagia Dysarthria Spasticity Ochronosis Pigmentation of the sclera Tendonitis Intervertebral disk calcification Thickened Achilles tendon Growth abnormality Reduced bone mineral density Poor speech Abnormal heart morphology Macrocytic anemia Rheumatoid arthritis Incoordination Small for gestational age Microtia Developmental regression Thin upper lip vermilion Epicanthus Stomatitis Halitosis Hypermethioninemia Hypertyrosinemia CNS demyelination Dysdiadochokinesis Peripheral demyelination Abnormality of eye movement Hyperreflexia Juvenile rheumatoid arthritis Glossitis Joint dislocation Band keratopathy Abnormality of the nail Myocardial infarction Blue sclerae Joint stiffness Abnormality of metabolism/homeostasis Rigors Renal amyloidosis Cystinuria Megaloblastic bone marrow Microscopic hematuria Papilledema Abnormality of the mouth Progressive sensorineural hearing impairment Meningitis Stage 5 chronic kidney disease Ichthyosis Sensorineural hearing impairment Nausea and vomiting Cirrhosis Acrocyanosis Rod-cone dystrophy Papule Cough Nyctalopia Erythema Pallor Postnatal growth retardation Hyperhidrosis Pneumonia Retinal dystrophy Constipation Blindness Frontal bossing Hypertelorism Atypical or prolonged hepatitis Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy High nonceruloplasmin-bound serum copper Vertigo Abdominal distention Hypersexuality Intestinal obstruction Posterior subcapsular cataract Poor coordination Peripheral visual field loss Uveitis Subcapsular cataract Colitis Hypermelanotic macule Purpura Sepsis Recurrent pneumonia Long eyelashes Optic disc pallor Eczema Dehydration Gastrointestinal hemorrhage Migraine Limitation of joint mobility Acute hepatitis Poor motor coordination Hepatic failure Muscle stiffness Hypercalciuria Abnormality of the hand Schizophrenia Drooling Leukoencephalopathy Leukopenia Nephrocalcinosis Increased body weight Personality changes Bone pain Decreased liver function Involuntary movements Clumsiness Cholestasis Progressive neurologic deterioration Ascites Bruising susceptibility Abnormality of mitochondrial metabolism Oral-pharyngeal dysphagia Hypocupremia Acute hepatic failure Abnormality of the menstrual cycle Retinoblastoma Proximal muscle weakness in lower limbs Menstrual irregularities Hyperphosphaturia Esophageal varix Chondrocalcinosis Renal tubular dysfunction Global brain atrophy Increased reactive oxygen species production Hand tremor Hypoparathyroidism Hepatocellular carcinoma Abnormality of blood and blood-forming tissues Osteomalacia Glycosuria Pathologic fracture Podagra



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

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