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:
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
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
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:
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
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
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
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
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
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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