Autoimmunity, and Photophobia

Diseases related with Autoimmunity and Photophobia

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


Top matches:

Medium 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

Medium match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC


Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by Li et al., 1993).For a general discussion of xeroderma pigmentosum, see XPA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC Is also known as xp, group c|xp3|xpcc|xeroderma pigmentosum iii

Related symptoms:

  • Neoplasm
  • Hyperactivity
  • Photophobia
  • Carcinoma
  • Abnormality of the nervous system


SOURCES: OMIM MESH MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC

Medium match AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK


Autoinflammation with arthritis and dyskeratosis is characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level (summary by Grandemange et al., 2016).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK

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Other less relevant matches:

Medium match AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1


Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 Is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|apeced|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome|apeced syndrome|polyglandular autoimmu

Related symptoms:

  • Seizures
  • Abnormal facial shape
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1

Medium 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 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

Low match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low match EPITHELIAL RECURRENT EROSION DYSTROPHY


Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.

EPITHELIAL RECURRENT EROSION DYSTROPHY Is also known as corneal erosions, recurring hereditary|dystrophia smolandiensis|dystrophia helsinglandica|ered|recurrent hereditary corneal erosions

Related symptoms:

  • Pain
  • Visual impairment
  • Photophobia
  • Corneal opacity
  • Corneal dystrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EPITHELIAL RECURRENT EROSION DYSTROPHY

Low match KERATOENDOTHELIITIS FUGAX HEREDITARIA; KEFH


Keratoendotheliitis fugax hereditaria is an autosomal dominant corneal disease that periodically and fleetingly affects the corneal endothelium, stroma, and vision, eventually resulting in central corneal stromal opacities in some patients. The disease is characterized by episodes of unilateral ocular pain, pericorneal injection, and photophobia. The acute symptoms vanish in 1 to 2 days, but vision remains blurry for several weeks. Onset occurs between ages 3 and 12 years, and may involve either eye. Episodes generally decrease in frequency and become more mild with age (summary by Turunen et al., 2018).

KERATOENDOTHELIITIS FUGAX HEREDITARIA; KEFH Is also known as keratitis fugax hereditaria

Related symptoms:

  • Pain
  • Edema
  • Photophobia
  • Corneal opacity
  • Opacification of the corneal stroma


SOURCES: MESH OMIM MENDELIAN

More info about KERATOENDOTHELIITIS FUGAX HEREDITARIA; KEFH

Low match POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY


Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.

POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY Is also known as schlichting dystrophy|corneal endothelial dystrophy 1, autosomal dominant, formerly|ppcd|ched1, formerly|posterior polymorphous dystrophy|maumenee corneal dystrophy|posterior polymorphous corneal dystrophy|corneal dystrophy, hereditary polymorphous poster

Related symptoms:

  • Edema
  • Glaucoma
  • Photophobia
  • Corneal opacity
  • Falls


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY

Top 5 symptoms//phenotypes associated to Autoimmunity and Photophobia

Symptoms // Phenotype % cases
Cataract Uncommon - Between 30% and 50% cases
Keratitis Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Epiphora Visual loss Blindness Retinopathy Abnormality of the liver Hypothyroidism Vomiting Diabetes mellitus Hypogonadism Rod-cone dystrophy Alopecia Constipation Fever Growth delay Failure to thrive Anemia Nausea and vomiting Respiratory insufficiency Edema Splenomegaly Anorexia Pancreatitis Chronic diarrhea Thyroiditis Malabsorption Corneal opacity Dyspnea Nyctalopia Blurred vision Ataxia Retinal pigment epithelial atrophy Fatigue Renal insufficiency Nausea Abdominal pain Weight loss Glomerulopathy Myalgia Pigmentary retinopathy

Rare Symptoms - Less than 30% cases


Cough Scarring Alopecia areata Acne Female hypogonadism Stroke Hemiparesis Memory impairment Gastrointestinal hemorrhage Migraine Chronic active hepatitis Hyperreflexia Lymphadenopathy Erythema Gait disturbance Irritability Behavioral abnormality Paresthesia Confusion Vertigo Dilatation Developmental regression Glaucoma Headache Cognitive impairment Pericarditis Pulmonary arterial hypertension Proteinuria Dilated cardiomyopathy Generalized tonic-clonic seizures Ophthalmoplegia Carious teeth Delayed puberty Hirsutism Nephropathy Specific learning disability Type II diabetes mellitus Involuntary movements Gastroesophageal reflux Left ventricular hypertrophy Abnormality of retinal pigmentation Generalized hirsutism Hypogonadotrophic hypogonadism Macular degeneration Goiter Aplasia/Hypoplasia of the cerebellum Progressive sensorineural hearing impairment Posterior subcapsular cataract Tubulointerstitial nephritis Jaundice Autism Pulmonary embolism Peripheral neuropathy Intellectual disability Global developmental delay Short stature Hearing impairment Nystagmus Sensorineural hearing impairment Vitiligo Feeding difficulties Motor delay Hypertension Hepatomegaly Myoclonus Optic atrophy Short neck Respiratory distress Cardiomyopathy Congestive heart failure Abnormality of the dentition Dystonia Kyphosis Depressivity Encephalopathy Hyporeflexia Hypoparathyroidism Cerebral ischemia Primary adrenal insufficiency Uveitis Sinusitis Hepatitis Cerebral calcification Abnormal retinal morphology Otitis media Muscle cramps Hypotrichosis Pallor Reduced visual acuity Corneal neovascularization Increased intraocular pressure Antinuclear antibody positivity Keratoconjunctivitis sicca Type I diabetes mellitus Attenuation of retinal blood vessels Abnormal chorioretinal morphology Posterior uveitis Epidermal acanthosis Dry skin Papule Arthritis Hepatosplenomegaly Hyperkeratosis Hyperhidrosis Ectropion Neoplasm Hypergonadotropic hypogonadism Corneal dystrophy Hypopigmented skin patches Cholelithiasis Opacification of the corneal stroma Constriction of peripheral visual field Adrenal insufficiency Diabetes insipidus Optic disc pallor Psychotic episodes Abnormality of the renal tubule Round face Growth hormone deficiency Decreased testicular size Keratoconus Hemianopia Ileus Episodic vomiting Progressive visual loss Cyanosis Cardiomegaly Abnormal Descemet membrane morphology Ectopia pupillae Urinary incontinence Vesicoureteral reflux Motor polyneuropathy Recurrent otitis media Dysesthesia Anterior synechiae of the anterior chamber Asthma Abdominal distention Ascites Sleep disturbance Hepatic steatosis Psychomotor deterioration Retinal dystrophy Muscle fiber atrophy Hypertriglyceridemia Insulin resistance Recurrent urinary tract infections Decreased corneal sensation Abnormality of the hand Polycystic ovaries Cone/cone-rod dystrophy Tachypnea Hypercholesterolemia Hyperlipidemia Atherosclerosis Acanthosis nigricans Abnormality of peripheral nerve conduction Accelerated skeletal maturation Recurrent corneal erosions Absence seizures Nephrocalcinosis Increased body weight Thickened skin Ocular pain Conjunctival hyperemia Horizontal nystagmus Recurrent pneumonia Short toe Proximal tubulopathy Gynecomastia Hyperpigmentation of the skin Hepatic fibrosis Falls Overgrowth Decreased liver function Iris atrophy Hepatic failure Retinal degeneration Band keratopathy Progressive night blindness Morphological abnormality of the inner ear Spontaneous hematomas Gastroparesis 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 Amaurosis fugax Scoliosis Cochlear malformation Auditory hallucinations Edema of the dorsum of hands Abnormal mitochondrial morphology Abnormal nerve conduction velocity Paronychia Spotty hypopigmentation Renal Fanconi syndrome Tubulointerstitial abnormality Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Prominent ear helix Strabismus Tachycardia Conductive hearing impairment Cirrhosis Stage 5 chronic kidney disease Infertility Corneal stromal edema Thinning of Descemet membrane Pulmonic stenosis Hypermetropia Uveal ectropion Sparse hair Autistic behavior Respiratory tract infection Postnatal growth retardation Abnormality of the kidney Writer's cramp Delayed speech and language development Elevated hepatic transaminase Corneal erosion Pes planus Kyphoscoliosis Respiratory failure Persistence of primary teeth Leber optic atrophy Polydactyly Recurrent respiratory infections Pneumonia Patent ductus arteriosus Clinodactyly Obesity Deeply set eye Hyperostosis Elevated alkaline phosphatase Disinhibition Poor fine motor coordination ST segment depression Multifocal atrial tachycardia Childhood-onset truncal obesity Urinary retention Arteriosclerosis High-frequency sensorineural hearing impairment Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Increased circulating androgen level Abnormal renal physiology Endocardial fibroelastosis Chronic hepatic failure Abnormal renal morphology Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst Exudative retinopathy High-frequency hearing impairment Restrictive cardiomyopathy Nonproductive cough Esophageal varix Chronic obstructive pulmonary disease Chronic fatigue Myocardial fibrosis Male hypogonadism Oligospermia Facial hirsutism Hepatic necrosis Myocarditis Impaired temperature sensation Epigastric pain Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Chronic infection Abnormal spermatogenesis Decreased glomerular filtration rate Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Frontal balding Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Pyelonephritis Abnormal muscle tone Multinodular goiter Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Achromatopsia Albuminuria Renovascular hypertension Squared iliac bones Urethral obstruction Acute pancreatitis Abnormality of the pituitary gland Hypoplastic male external genitalia Chills Left ventricular failure Tubular atrophy Precocious puberty EEG with occipital slowing Truncal obesity Urinary urgency Hydroureter Unilateral breast hypoplasia Glue ear Recurrent cystitis Pulmonary fibrosis Emphysema Widely-spaced incisors Polyuria Abnormal retinal artery morphology Precocious puberty in females Glucose intolerance Abnormality of prothrombin Pericardial effusion Hyperglycemia Urethral stricture Abnormality of renal calyx morphology Impaired vibratory sensation Obsessive-compulsive behavior Chronic otitis media Nephritis Localized hirsutism Polydipsia Portal hypertension Lipodystrophy Vitreous haze Hyperinsulinemia Abnormality of the femoral head Dilatation of the bladder Chorioretinal atrophy Recurrent bronchitis Hypoventilation Acute hepatic failure Elevated serum creatinine Right ventricular hypertrophy Pendular nystagmus Gingivitis Ketoacidosis Broad foot Oligomenorrhea Poor coordination Hyperventilation Alopecia of scalp Peripheral visual field loss Retinal atrophy Insulin-resistant diabetes mellitus Severe sensorineural hearing impairment Thickened ears Autoimmune thrombocytopenia Thoracic scoliosis Subcapsular cataract Increased number of teeth Hyperuricemia Abnormal adipose tissue morphology Hyperostosis frontalis interna Bronchitis Glycosuria Agenesis of permanent teeth Short finger Polyphagia Receptive language delay Granular macular appearance Speech apraxia Hallucinations Seborrheic dermatitis Myocardial infarction Hemoptysis Inflammation of the large intestine Rheumatoid arthritis Pleural effusion Encephalitis Increased intracranial pressure Venous thrombosis Cranial nerve paralysis Aortic regurgitation Vasculitis Meningitis Subcutaneous nodule Mitral regurgitation Abnormal blistering of the skin Pustule Chest pain Abnormal pyramidal sign Joint stiffness Arthralgia Patchy atrophy of the retinal pigment epithelium Decreased circulating parathyroid hormone level Salt craving Chronic atrophic gastritis Abnormality of calcium-phosphate metabolism Chronic hepatitis Keratoconjunctivitis Gastritis Central diabetes insipidus Aseptic necrosis Pulmonary infiltrates Decreased circulating aldosterone level Iridocyclitis Muscle weakness Hypertelorism Microcephaly Hypopyon Decreased level of D-mannose in urine Epididymitis Genital ulcers Panuveitis Superficial thrombophlebitis Orchitis Retrobulbar optic neuritis Iritis Increased inflammatory response Anterior uveitis Gangrene Optic neuritis Chorioretinitis Immunologic hypersensitivity Erythema nodosum Thrombophlebitis Pleuritis Oral ulcer Endocarditis Stomatitis Recurrent aphthous stomatitis Arterial thrombosis Abnormal myocardium morphology Myositis Raynaud phenomenon Alopecia universalis Alopecia totalis Ptosis Hyperactivity Freckling Basal cell carcinoma Squamous cell carcinoma Systemic lupus erythematosus Dermal atrophy Melanoma Neoplasm of the skin Conjunctivitis Telangiectasia Cutaneous photosensitivity Hypopigmentation of the skin Abnormality of the nervous system Carcinoma Arcuate scotoma Entropion Blind-spot enlargment Photoreceptor layer loss on macular OCT Macular hole Vitritis Abnormal choroid morphology Vitreous floaters Epiretinal membrane Macular scar Retinal thinning Cystoid macular edema Choroidal neovascularization Inflammatory abnormality of the eye Abnormality of the retinal vasculature Retinal detachment Poikiloderma Squamous cell carcinoma of the skin Tetany Dehydration Achalasia Abnormality of the cerebral vasculature Chronic mucocutaneous candidiasis Asplenia Adrenal hyperplasia Chronic sinusitis Increased circulating cortisol level Metaphyseal dysplasia Macular atrophy Abnormality of the thyroid gland Abnormality of the fingernails Hypocalcemia Hypoplasia of dental enamel Hypotension Cutaneous melanoma Decreased antibody level in blood Skin rash Rigidity Abnormal facial shape Punctate keratitis Comedo Polyarticular arthritis Increased IgA level Villous atrophy Follicular hyperkeratosis Autoimmune hemolytic anemia Atrophic scars Hemolytic anemia Defective DNA repair after ultraviolet radiation damage Muscular hypotonia Dysarthria Stroke-like episode Aortic aneurysm Aphasia Bundle branch block Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Hemiplegia Dysphasia Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Schizophrenia Mutism Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes Vestibular dysfunction Hyperkalemia Purpura Mitochondrial myopathy Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Progressive external ophthalmoplegia Heart block Visual field defect Xerostomia Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Drowsiness Distal arthrogryposis Abnormality of immune system physiology Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Vertebral fusion Multiple lipomas Prolonged QT interval External ophthalmoplegia Exercise intolerance Skeletal muscle atrophy Gait ataxia Lethargy Pruritus Neurological speech impairment Attention deficit hyperactivity disorder Protruding ear Abnormality of the pinna Feeding difficulties in infancy Mental deterioration Apnea Hypertrophic cardiomyopathy Anxiety EEG abnormality Acidosis Cerebral cortical atrophy Congenital cataract Osteoporosis Dementia Cerebellar hypoplasia Delayed skeletal maturation Elevated serum creatine phosphokinase Areflexia Arrhythmia Cerebral atrophy Hypertonia Cerebellar atrophy Myopathy Ventriculomegaly Dysphagia Tremor Arthrogryposis multiplex congenita Anal atresia EMG abnormality Generalized-onset seizure Truncal ataxia Cardiac arrest Clonus Cerebral visual impairment Gingival overgrowth Decreased body weight Hypertrichosis Atrial fibrillation Ventricular hypertrophy Psychosis Status epilepticus Nephrotic syndrome Bilateral sensorineural hearing impairment Abnormality of the cardiovascular system Dysmetria Amenorrhea Hip dysplasia Increased serum lactate Sensory impairment Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Postural instability Coma Polyneuropathy Polymicrogyria Lactic acidosis Peripheral axonal neuropathy Ichthyosis Polymorphous posterior corneal dystrophy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Elevated hepatic transaminase, related diseases and genetic alterations

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