Arthritis, and Corneal dystrophy

Diseases related with Arthritis and Corneal dystrophy

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

Top matches:

Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006).For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (OMIM ).

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3 Is also known as corneal dystrophy, fuchs endothelial, late-onset|fcd2 locus

Related symptoms:

  • Visual impairment
  • Edema
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3

Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (OMIM ).

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4 Is also known as corneal dystrophy, fuchs endothelial, late-onset

Related symptoms:

  • Edema
  • Reduced visual acuity
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4

Other less relevant matches:

Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).For a discussion of genetic heterogeneity of FECD, see FECD1 (OMIM ).

Related symptoms:

  • Edema
  • Reduced visual acuity
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8; FECD8

Low 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

Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA ), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007).

Related symptoms:

  • Short stature
  • Flexion contracture
  • Severe short stature
  • Osteoporosis
  • Coarse facial features


SOURCES: OMIM MENDELIAN

More info about WINCHESTER SYNDROME; WNCHRS

SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT Is also known as spondyloepiphyseal dysplasia, late|sed tarda, x-linked

Related symptoms:

  • Short stature
  • Scoliosis
  • Short neck
  • Kyphosis
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT

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

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

Top 5 symptoms//phenotypes associated to Arthritis and Corneal dystrophy

Symptoms // Phenotype % cases
Corneal opacity Uncommon - Between 30% and 50% cases
Edema Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Nausea Myalgia Coarse facial features Nausea and vomiting Arthralgia Easy fatigability Muscle cramps Chest pain Rheumatoid arthritis Xerostomia Achalasia Cough Cardiomyopathy Fatigue Exercise intolerance Subcutaneous nodule Flexion contracture Seizures Anemia Reduced visual acuity Impaired temperature sensation Obstructive lung disease Hyperkeratotic papule Angiokeratoma Reduced sperm motility Left ventricular septal hypertrophy Increased blood urea nitrogen Distal renal tubular acidosis Vascular tortuosity Tortuosity of conjunctival vessels Angiokeratoma corporis diffusum Hyposthenuria Shortened QT interval Decreased lacrimation Shortened PR interval Coronary artery stenosis Abnormality of the forehead Concentric hypertrophic cardiomyopathy Mucosal telangiectasiae Decreased glomerular filtration rate Abnormality of glycosphingolipid metabolism ST segment depression Functional abnormality of the gastrointestinal tract Impaired renal concentrating ability Unexplained fevers Abnormality of cardiovascular system physiology Nephrogenic diabetes insipidus Asymmetric septal hypertrophy Miosis T-wave inversion Abnormal aortic valve morphology Gastrointestinal dysmotility Periorbital fullness Abnormal mitral valve morphology High-frequency hearing impairment Chronic pain Abnormal myocardium morphology Restrictive cardiomyopathy Abnormality of the nose Abnormality of femur morphology Chronic fatigue Myocardial fibrosis Abnormal renal physiology Tubulointerstitial fibrosis Abnormality of temperature regulation Abnormal endocardium morphology Limb pain Corneal crystals Retinal vascular tortuosity Vascular skin abnormality Decreased female libido Heavy proteinuria Biventricular hypertrophy Abnormal thrombosis Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Supraventricular arrhythmia Dysesthesia Abnormal cornea morphology Abnormality of the renal tubule Tenesmus Osteoporosis Acroparesthesia Jaundice Weight loss Gastroesophageal reflux Asthma Aspiration Hoarse voice Oral-pharyngeal dysphagia Adrenal insufficiency Keratoconjunctivitis sicca Keratoconjunctivitis Muscle weakness Blindness Myopathy Elevated serum creatine phosphokinase Respiratory failure Limb muscle weakness Hump-shaped mound of bone in central and posterior portions of vertebral endplate Hemolytic anemia Cerebral visual impairment Cholelithiasis Polycythemia Reticulocytosis Myoglobinuria Gout Nonspherocytic hemolytic anemia Dark urine Increased total bilirubin Gastric ulcer Exercise-induced muscle cramps Exercise-induced myoglobinuria Increased muscle glycogen content Dysphagia Hip osteoarthritis Abnormal common carotid artery morphology Short neck Abnormal ST segment Increased carotid artery intimal medial thickness Increased glomerular filtration rate Abnormality of the common coagulation pathway Abnormal glomerular filtration rate Cornea verticillata Severe short stature Gingival overgrowth Osteolysis Arthropathy Generalized osteoporosis Osteolysis involving bones of the feet Osteolysis involving bones of the upper limbs Scoliosis Kyphosis Hypoplasia of the capital femoral epiphysis Platyspondyly Limitation of joint mobility Lumbar hyperlordosis Osteoarthritis Opacification of the corneal stroma Coxa vara Spondyloepiphyseal dysplasia Short femoral neck Disproportionate short stature Barrel-shaped chest Hypoplastic iliac wing Disproportionate short-trunk short stature Shield chest Irregular epiphyses Sinus bradycardia Tubulointerstitial nephritis Chronic obstructive pulmonary disease Thick vermilion border Skin rash Stroke Prominent nasal bridge Papule Pruritus Abnormality of the cerebral white matter Malabsorption Delayed puberty Paresthesia Vertigo Stage 5 chronic kidney disease Tachycardia Bulbous nose Thick eyebrow Hematuria Abnormality of the kidney Nephropathy Abdominal distention Sudden cardiac death Syncope Urinary incontinence Hypotension Abnormality of the cardiovascular system Mitral valve prolapse Nephrotic syndrome Ventricular hypertrophy Thick lower lip vermilion Atrial fibrillation Myocardial infarction Palpitations Developmental regression Hypertrophic cardiomyopathy Abnormal lung morphology Headache Visual impairment Hearing impairment Sensorineural hearing impairment Cataract Cognitive impairment Hypertension Peripheral neuropathy Fever Optic atrophy Respiratory insufficiency Diarrhea Congestive heart failure Behavioral abnormality Renal insufficiency Dilatation Abnormality of the nervous system Midface retrusion Depressivity Arrhythmia Constipation Posteriorly rotated ears Hyperhidrosis Abdominal pain Hyperkeratosis Hypothyroidism Dyspnea Mandibular prognathia Carcinoma Anxiety Proteinuria Mitral regurgitation Left ventricular hypertrophy Angina pectoris Aortic root aneurysm Bundle branch block Impotence Coronary artery atherosclerosis Elevated erythrocyte sedimentation rate Interstitial pulmonary abnormality Progressive sensorineural hearing impairment Orthostatic hypotension Celiac disease Telangiectasia of the skin Glomerulopathy Abnormal heart valve morphology Glycosuria Renal tubular acidosis Wheezing Abnormality of lipid metabolism Emphysema Abnormal EKG Transient ischemic attack Renal tubular dysfunction Edema of the lower limbs Elevated serum creatinine Tubular atrophy Abnormality of the gastrointestinal tract Oligospermia Large earlobe Supraventricular tachycardia Heat intolerance Reduced ejection fraction Peripheral arterial stenosis Clubbing of fingers Loss of consciousness Anhidrosis Anorexia Reduced bone mineral density Hypohidrosis Lymphedema Bradycardia Fasciculations Abnormal autonomic nervous system physiology Spontaneous abortion Aminoaciduria Purpura Hyperlipidemia Ventricular tachycardia Aortic regurgitation Abnormal intestine morphology Progressive hearing impairment Ischemic stroke Ventricular arrhythmia Polyuria Tinnitus Atrioventricular block Chronic kidney disease Prominent supraorbital ridges Abnormality of the hand Hemiplegia Glomerulosclerosis Polydipsia Personality changes Heart murmur Clubbing Impaired vibratory sensation Tricuspid regurgitation Diabetes insipidus Reduced erythrocyte 2,3-diphosphoglycerate concentration


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