Arthritis, and Reduced visual acuity

Diseases related with Arthritis and Reduced visual acuity

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


Top matches:

Low match AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT


Autosomal dominant rhegmatogenous retinal detachment is a rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.

AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT Is also known as stickler syndrome, type i, predominantly ocular|stickler syndrome, atypical

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Cataract
  • Visual impairment
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT

Low match MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1


Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by De et al., 2007). Genetic Heterogeneity of Age-Related Macular DegenerationARMD2 (OMIM ) is associated with mutation in the ABCR gene (OMIM ) on chromosome 1p, and ARMD3 (OMIM ) is caused by mutation in the FBLN5 gene (OMIM ) on chromosome 14q31. Up to 50% of the attributable risk of age-related macular degeneration (ARMD4 ) appears to be explained by a polymorphism in the CFH gene ({134370.0008}). ARMD5 (OMIM ) and ARMD6 (OMIM ) are associated with mutation in the ERCC6 (OMIM ) and RAX2 (OMIM ) genes, respectively. ARMD7 (OMIM ) and ARMD8 (OMIM ), which both represent susceptibility linked to chromosome 10q26, are associated with single-nucleotide polymorphisms in the HTRA1 (OMIM ) and ARMS2 (OMIM ) genes, respectively. ARMD9 (OMIM ) is associated with single-nucleotide polymorphisms in the C3 gene (OMIM ). ARMD10 (OMIM ) maps to chromosome 9q32 and may be associated with a polymorphism in the TLR4 gene (OMIM ). ARMD11 (OMIM ) is association with variation in the CST3 gene (OMIM ); ARMD12 (OMIM ) with variation in the CX3CR1 gene (OMIM ); and ARMD13 (OMIM ) with variation in the CFI gene (OMIM ). ARMD14 (OMIM ) is associated with variation in or near the C2 (OMIM ) and CFB (OMIM ) genes on chromosome 6p21. ARMD15 (OMIM ) is associated with variation in the C9 gene (OMIM ). There is evidence for a form of ARMD caused by mutation in the mitochondrial gene MTTL1 (OMIM ).A haplotype carrying deletion of the complement factor H-related genes CFHR1 (OMIM ) and CFHR3 (OMIM ) is also associated with reduced risk of ARMD.Lotery and Trump (2007) reviewed the molecular biology of age-related macular degeneration and tabulated the genes associated with ARMD, including those with only positive findings versus genes for which conflicting results have been found.

MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1 Is also known as maculopathy, age-related, 1

Related symptoms:

  • Cataract
  • Visual impairment
  • Hypertension
  • Blindness
  • Visual loss


SOURCES: MESH OMIM MENDELIAN

More info about MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

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

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Other less relevant matches:

Low match HEMOPHILIA A; HEMA


Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal. Patients with mild hemophilia usually bleed excessively only after trauma or surgery, whereas those with severe hemophilia have an annual average of 20 to 30 episodes of spontaneous or excessive bleeding after minor trauma, particularly into joints and muscles. These symptoms differ substantially from those of bleeding disorders due to platelet defects or von Willebrand disease (OMIM ), in which mucosal bleeding predominates (review by Mannucci and Tuddenham, 2001).

HEMOPHILIA A; HEMA Is also known as hemophilia, classic

Related symptoms:

  • Pain
  • Anemia
  • Flexion contracture
  • Peripheral neuropathy
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOPHILIA A; HEMA

Low match BLAU SYNDROME; BLAUS


Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).

BLAU SYNDROME; BLAUS Is also known as arthrocutaneouveal granulomatosis|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|eos|jabs syndrome|granulomatosis, familial juvenile systemic|acug|sarcoidosis, early-onset|granulomatosis, familial, blau type

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BLAU SYNDROME; BLAUS

Low match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Low match KID SYNDROME


Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

KID SYNDROME Is also known as ichthyosis hystrix rheydt type|keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome|senter syndrome|kid/hid syndrome|kid syndrome, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about KID SYNDROME

Low match RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

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

Low 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

Top 5 symptoms//phenotypes associated to Arthritis and Reduced visual acuity

Symptoms // Phenotype % cases
Blindness Common - Between 50% and 80% cases
Visual impairment Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Fever Uncommon - Between 30% and 50% cases
Visual loss Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Reduced visual acuity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Edema Juvenile rheumatoid arthritis Arthralgia Anemia Myalgia Skin rash Uveitis Pain Peripheral neuropathy Fatigue Stroke Joint swelling Flexion contracture Cataract Rheumatoid arthritis Vasculitis Skin ulcer Elevated erythrocyte sedimentation rate

Rare Symptoms - Less than 30% cases


Pericarditis Hepatomegaly Papule Autoimmunity Skeletal dysplasia Sensorineural hearing impairment Nausea and vomiting Osteoarthritis Intellectual disability Abnormal joint morphology Abdominal pain Anterior uveitis Alopecia Optic disc pallor Hematuria Depressivity Arthropathy Ataxia Macular edema Myopia Global developmental delay Splenomegaly Lymphadenopathy Gout Progressive visual loss Scarring Hypertension Urticaria Abnormal thrombocyte morphology Meningitis Hepatosplenomegaly Muscle weakness Elevated C-reactive protein level Hyperhidrosis Seizures Nyctalopia Sparse hair Erythema Cerebellar hypoplasia Delayed skeletal maturation Aplasia/Hypoplasia of the eyebrow Macule Abnormal eyelash morphology Carcinoma Cellulitis Severe hearing impairment Photophobia Severe global developmental delay Hyperkeratosis Corneal erosion Alopecia of scalp Keratoconjunctivitis sicca Hemiplegia/hemiparesis Squamous cell carcinoma Sparse eyelashes Aganglionic megacolon Thickened skin Hypohidrosis Nail dysplasia Sparse and thin eyebrow Delayed eruption of teeth Elbow flexion contracture Knee flexion contracture Palmoplantar keratoderma Conjunctivitis Ichthyosis Nail dystrophy Osteolysis Neoplasm of the skin Reduced tendon reflexes Scaling skin Carious teeth Congenital sensorineural hearing impairment Keratitis Absent eyebrow Hypoplastic toenails Fine hair Pes cavus Trichiasis Dystrophic toenail Visual field defect Arrhythmia Weight loss Conductive hearing impairment Joint stiffness Cough Paresthesia Vertigo Hepatic failure Sudden cardiac death Epistaxis Anorexia Diplopia Ophthalmoparesis Diabetes insipidus Gangrene Renal insufficiency Aortic dissection Cerebral ischemia Arterial thrombosis Recurrent pharyngitis Abnormality of the pleura Mediastinal lymphadenopathy Amaurosis fugax Abdominal aortic aneurysm Impaired mastication Gastrointestinal infarctions Glossitis Arteritis Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Retinal arteritis Headache Optic atrophy Furrowed tongue Abnormality of corneal stroma Hypoplastic fingernail Oral leukoplakia Dystrophic fingernails Corneal neovascularization Recurrent corneal erosions Abnormality of the tongue Squamous cell carcinoma of the skin Keratoconjunctivitis Corneal scarring Recurrent bacterial skin infections Generalized hyperkeratosis Corneal ulceration Moderate hearing impairment Cryptorchidism Pallor Ptosis Decreased serum iron Nystagmus Serositis Pleural effusion Falls Photoreceptor layer loss on macular OCT Ring scotoma Epiretinal membrane Abnormality of skin pigmentation Decreased mean corpuscular volume Elliptocytosis Retinal pigment epithelial atrophy Poikilocytosis Anisocytosis Retinal atrophy Abnormality of the dentition Proptosis Neoplasm Nonspherocytic hemolytic anemia Corneal opacity Limb muscle weakness Nausea Hemolytic anemia Muscle cramps Cerebral visual impairment Exercise intolerance Easy fatigability Cholelithiasis Polycythemia Reticulocytosis Myoglobinuria Dark urine Respiratory failure Increased total bilirubin Gastric ulcer Exercise-induced muscle cramps Exercise-induced myoglobinuria Increased muscle glycogen content Reduced erythrocyte 2,3-diphosphoglycerate concentration Muscular dystrophy Bruising susceptibility Gastrointestinal hemorrhage Intracranial hemorrhage Thromboembolism Abnormality of the elbow Jaundice Elevated serum creatine phosphokinase Prolonged partial thromboplastin time Epicanthus Retrognathia Genu valgum Retinal detachment Epiphora Vitreoretinopathy Premature osteoarthritis Abnormal vitreous humor morphology Rhegmatogenous retinal detachment Posterior vitreous detachment Erosive vitreoretinopathy Membranous vitreous appearance Hypopigmentation of the skin Vomiting Abnormality of the cardiovascular system Macular degeneration Emphysema Drusen Choroidal neovascularization Geographic atrophy Macular drusen Polypoidal choroidal vasculopathy Foveal hypopigmentation Macular hemorrhage Cardiomyopathy Myopathy Dyschromatopsia Stomatitis Short stature Overgrowth Tendonitis Intermittent generalized erythematous papular rash Nongranulomatous uveitis Growth delay Abnormal facial shape Brachydactyly Macrocephaly Frontal bossing Cleft palate EEG abnormality Migraine Premature birth Joint dislocation Large vessel vasculitis Purpura Increased intracranial pressure Reduced bone mineral density Leukocytosis Progressive sensorineural hearing impairment Amyloidosis Delayed closure of the anterior fontanelle Inflammatory abnormality of the eye Abnormality of neutrophils Pseudopapilledema Retrobulbar optic neuritis Abnormal granulocyte morphology Panuveitis Iritis Joint hemorrhage Eczema Spontaneous hematomas Reduced factor VIII activity Intraventricular hemorrhage Persistent bleeding after trauma Intramuscular hematoma Oral cavity bleeding Bleeding with minor or no trauma Splenic rupture Failure to thrive Glaucoma Camptodactyly Camptodactyly of finger Inflammatory abnormality of the skin Iridocyclitis Subcutaneous nodule Hypercalcemia Increased antibody level in blood Abnormality of the ear Optic neuropathy Abnormal cranial nerve morphology Synovitis Cystoid macular edema Abducens palsy Flexion contracture of toe Granulomatosis Band keratopathy Posterior uveitis Jaw claudication



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

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