Autoimmunity, and Visual loss

Diseases related with Autoimmunity and Visual loss

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


Top matches:

Low match BIRDSHOT CHORIORETINOPATHY


Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.

BIRDSHOT CHORIORETINOPATHY Is also known as birdshot retinochoroidopathy|birdshot retinochoroiditis|birdshot chorioretinitis|bscr|vitiliginous choroiditis

Related symptoms:

  • Cataract
  • Visual impairment
  • Blindness
  • Visual loss
  • Photophobia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BIRDSHOT CHORIORETINOPATHY

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 NEUROMYELITIS OPTICA


Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.

NEUROMYELITIS OPTICA Is also known as devic disease

Related symptoms:

  • Pain
  • Respiratory insufficiency
  • Vomiting
  • Visual loss
  • Respiratory failure


SOURCES: MESH ORPHANET MENDELIAN

More info about NEUROMYELITIS OPTICA

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Other less relevant matches:

Low match MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS


MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Is also known as disseminated sclerosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

Low match KRABBE DISEASE


Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).

KRABBE DISEASE Is also known as gcl|galc deficiency|galactosylceramide beta-galactosidase deficiency|globoid cell leukodystrophy|galactocerebrosidase deficiency|globoid cell leukoencephalopathy|gld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KRABBE DISEASE

Low match WALDENSTRÖM MACROGLOBULINEMIA


Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Anemia
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about WALDENSTRÖM MACROGLOBULINEMIA

Low match GRANULOMATOSIS WITH POLYANGIITIS


Granulomatosis with polyangiitis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.

GRANULOMATOSIS WITH POLYANGIITIS Is also known as wegener granulomatosis, formerly|gpa|wg, formerly

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GRANULOMATOSIS WITH POLYANGIITIS

Low 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

Low match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Top 5 symptoms//phenotypes associated to Autoimmunity and Visual loss

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

Patients with Autoimmunity and Visual loss. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pain Renal insufficiency Weight loss Diarrhea Hyperreflexia Respiratory insufficiency Malabsorption Paresthesia Stroke Memory impairment Pleural effusion Fatigue Myalgia Ataxia Purpura Peripheral neuropathy Blindness Abdominal pain Anorexia Vasculitis Gastrointestinal hemorrhage Cranial nerve paralysis Migraine Protruding ear Pulmonary infiltrates Paralysis Vomiting Cataract Nystagmus Sensorineural hearing impairment Developmental regression Hemiplegia Dilatation Gait disturbance Feeding difficulties Muscular hypotonia Failure to thrive Neoplasm Global developmental delay Anemia Confusion Depressivity Tremor Muscle weakness Vertigo Hyperkinesis Pancreatitis Pericarditis Glomerulopathy Cerebral ischemia Nausea and vomiting Hepatomegaly Splenomegaly Arthralgia Lymphadenopathy Elevated erythrocyte sedimentation rate Arthritis Photophobia Dyspnea

Rare Symptoms - Less than 30% cases


Feeding difficulties in infancy Endocarditis Intestinal obstruction Abnormal nerve conduction velocity Polymicrogyria Hemoptysis Gangrene Myositis Autoimmune thrombocytopenia Pleuritis Hypothyroidism Anal atresia Generalized myoclonic seizures Erythema Jaundice Clonus Abnormality of the pinna Anxiety Short stature Hemiplegia/hemiparesis EMG abnormality Increased inflammatory response Pulmonary embolism Decreased nerve conduction velocity Intellectual disability Hypertension Microcephaly Cough Respiratory distress Thyroiditis Periorbital edema Reduced consciousness/confusion Raynaud phenomenon Cardiomyopathy Arrhythmia Abnormality of the dentition Hydronephrosis Proteinuria Epistaxis Retinopathy Papule Congestive heart failure Kyphosis Nephropathy Chest pain Polyneuropathy Otitis media Myocardial infarction Subcutaneous nodule Growth delay Meningitis Ptosis Proptosis Recurrent infections Venous thrombosis Sensory neuropathy Hemiparesis Falls Ocular pain Optic atrophy Vitiligo Hashimoto thyroiditis Nausea Sensory impairment Generalized hypotonia Peripheral demyelination Posterior uveitis CNS demyelination Skin rash Blurred vision Abnormality of the retinal vasculature Retinal pigment epithelial atrophy Diplopia Inflammatory abnormality of the eye Scarring Neuritis Constipation Spasticity Bundle branch block Pallor Cognitive impairment Optic neuritis Recurrent respiratory infections Anterior uveitis Elevated C-reactive protein level Nyctalopia Optic disc pallor EEG abnormality Hirsutism Uveitis Rheumatoid arthritis Mental deterioration Irritability Behavioral abnormality Hypertonia Reduced visual acuity Trichorrhexis nodosa Patellar dislocation Neurological speech impairment Dilated cardiomyopathy Mitral stenosis Broad philtrum Small face Depressed nasal tip Generalized tonic-clonic seizures Short 5th finger Cholangitis Retinal coloboma Pruritus Optic nerve coloboma Short columella Anoperineal fistula Lethargy Increased serum lactate Pulmonary arterial hypertension Type II diabetes mellitus Nephrotic syndrome Bilateral sensorineural hearing impairment Generalized-onset seizure Anal stenosis Abnormality of the cardiovascular system Pigmentary retinopathy Cerebral calcification Amenorrhea Specific learning disability Hip dysplasia Sudden cardiac death Arthrogryposis multiplex congenita Abnormal cerebellum morphology Muscle cramps Postural instability Coma Lactic acidosis Overweight Peripheral axonal neuropathy Ichthyosis Dysmetria Delayed puberty Carious teeth Congenital cataract Ophthalmoplegia Scaphocephaly Hypertrophic cardiomyopathy Anterior plagiocephaly Short nasal septum Myoclonus Dementia Rod-cone dystrophy Cerebellar hypoplasia Delayed skeletal maturation Elevated serum creatine phosphokinase Hyporeflexia Areflexia Encephalopathy Cerebral atrophy Dystonia Cerebellar atrophy Eversion of lateral third of lower eyelids Myopathy Pilonidal sinus Short neck Ventriculomegaly Vertical orbital dystopia Dysphagia Status epilepticus Dysarthria Nocturnal lagophthalmos Motor delay Hypertelorism Congenital mitral stenosis Osteoporosis Premature thelarche Recurrent ear infections Cerebral cortical atrophy Ureteropelvic junction obstruction Diaphragmatic eventration Attention deficit hyperactivity disorder Abnormality of the liver Bronchomalacia Biliary atresia Apnea Gastroesophageal reflux Acidosis Autism Gait ataxia Prominent fingertip pads Prominent eyelashes Recurrent aspiration pneumonia Diabetes mellitus Abnormality of the middle ear Epibulbar dermoid Vertebral clefting Common atrium Anorectal anomaly Crossed fused renal ectopia Hypogonadism Single ventricle Sclerosing cholangitis Liver abscess Skeletal muscle atrophy Focal segmental glomerulosclerosis Psychosis Anterior hypopituitarism Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Gait imbalance Muscle fiber atrophy Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Psychomotor deterioration Writer's cramp Heart block Abnormal mitochondrial morphology Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Paronychia Persistence of primary teeth Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Hypoparathyroidism Xerostomia Ventricular hypertrophy Exercise intolerance Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Goiter Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Macular degeneration Type I diabetes mellitus Hypercalciuria Hypogonadotrophic hypogonadism Generalized hirsutism Truncal ataxia Cardiac arrest Cerebral visual impairment Hallucinations Abnormality of retinal pigmentation Gingival overgrowth Left ventricular hypertrophy Decreased body weight Involuntary movements Hypertrichosis Atrial fibrillation Cachexia Bilateral ptosis Neonatal hypoglycemia Visual field defect Abnormality of visual evoked potentials Atopic dermatitis Drowsiness Distal arthrogryposis Primary adrenal insufficiency Abnormality of immune system physiology Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Hyperkalemia Aortic aneurysm Dysphasia Vestibular dysfunction Aphasia Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism IgA deficiency Atrial septal defect Congenital hypothyroidism Leukemia Multifocal epileptiform discharges Retinal hemorrhage Abnormality of neutrophils Normocytic anemia Lymphoproliferative disorder Hypercoagulability Edema of the lower limbs Gingival bleeding Cutis marmorata Urticaria Lymphoma Abnormal flash visual evoked potentials Impaired lymphocyte transformation with phytohemagglutinin Unexplained fevers Decerebrate rigidity Aplasia/Hypoplasia of the abdominal wall musculature Cloverleaf skull Demyelinating peripheral neuropathy Abnormality of the thumb Motor deterioration Diffuse cerebral atrophy Increased CSF protein Episodic fever Hyperactive deep tendon reflexes Ankle clonus Monoclonal immunoglobulin M proteinemia Cryoglobulinemia Opisthotonus Tracheal stenosis Abnormal oral cavity morphology Ureteral stenosis Granulomatosis Subglottic stenosis Rhinorrhea Nasal obstruction Recurrent corneal erosions Abnormality of the hypothalamus-pituitary axis Abnormality of the nose Concave nasal ridge Angina pectoris Chronic obstructive pulmonary disease Wheezing Polyclonal elevation of IgM Petechiae Restrictive ventilatory defect Pulmonary fibrosis Diabetes insipidus Stridor Chronic otitis media Glomerulonephritis Conjunctivitis Hoarse voice Skin ulcer Sinusitis Hematuria Progressive spasticity Global brain atrophy Arteritis Macular hole Autoimmune antibody positivity Neuronal loss in central nervous system Paraplegia Respiratory failure Serositis Juvenile rheumatoid arthritis Joint swelling Hepatosplenomegaly Arcuate scotoma Blind-spot enlargment Photoreceptor layer loss on macular OCT Vitritis CSF pleocytosis Abnormal choroid morphology Vitreous floaters Epiretinal membrane Macular scar Abnormal chorioretinal morphology Retinal thinning Cystoid macular edema Choroidal neovascularization Attenuation of retinal blood vessels Increased intraocular pressure Abnormal retinal morphology Retinal detachment Abnormality of brain morphology Functional abnormality of the bladder Postural tremor Abnormality of the cerebral white matter CNS hypomyelination Spastic tetraparesis Spastic paraparesis Paraparesis Horizontal nystagmus Sensorimotor neuropathy Leukodystrophy Progressive muscle weakness Frequent falls Tetraparesis Brain atrophy Neurodegeneration Muscular hypotonia of the trunk Recurrent singultus Rigidity Pes cavus Abnormality of metabolism/homeostasis Hydrocephalus Urinary hesitancy Brain neoplasm Emotional lability Incoordination Muscle stiffness Urinary incontinence Difficulty walking Myelitis Episcleritis Scleritis Autoimmune hemolytic anemia Wide nose Congenital diaphragmatic hernia Microdontia Growth hormone deficiency Decreased antibody level in blood Dental malocclusion Prominent nose Intestinal malrotation Hypodontia Single transverse palmar crease Highly arched eyebrow Hemolytic anemia Joint hypermobility Blue sclerae Astigmatism Abnormal cardiac septum morphology Coloboma Respiratory tract infection Postnatal growth retardation Abnormality of the kidney Intellectual disability, moderate Joint laxity Hypoglycemia Pes planus Macrotia Micropenis Coarctation of aorta Small nail Severe short stature Failure to thrive in infancy Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Hydroureter Preauricular pit Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Poor suck Recurrent otitis media Abnormality of the urinary system Abnormal dermatoglyphics Hyperbilirubinemia Horseshoe kidney Congenital hip dislocation Increased body weight Sparse and thin eyebrow Abnormal vertebral morphology Cafe-au-lait spot Long eyelashes Renal dysplasia Heterotopia Posteriorly rotated ears Pneumonia Recurrent intrapulmonary hemorrhage Keratoconjunctivitis sicca Chorioretinitis Immunologic hypersensitivity Erythema nodosum Thrombophlebitis Oral ulcer Alopecia areata Stomatitis Recurrent aphthous stomatitis Arterial thrombosis Abnormal myocardium morphology Pustule Aseptic necrosis Epiphora Iritis Inflammation of the large intestine Acne Encephalitis Increased intracranial pressure Aortic regurgitation Mitral regurgitation Abnormal blistering of the skin Abnormal pyramidal sign Joint stiffness Glaucoma Alopecia Prostatitis Iridocyclitis Retrobulbar optic neuritis Abnormal heart morphology Epicanthus Patent ductus arteriosus Clinodactyly Hypospadias Obesity Hernia Immunodeficiency Intellectual disability, mild Ventricular septal defect Abnormality of the skeletal system Myopia Wide nasal bridge Brachydactyly High palate Orchitis Cryptorchidism Cleft palate Abnormal facial shape Strabismus Micrognathia Scoliosis Hypopyon Decreased level of D-mannose in urine Epididymitis Genital ulcers Panuveitis Superficial thrombophlebitis Prominent ear helix



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