Autoimmunity, and Macular degeneration

Diseases related with Autoimmunity and Macular degeneration

In the following list you will find some of the most common rare diseases related to Autoimmunity and Macular degeneration 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 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

Low match MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2


MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2 Is also known as maculopathy, age-related, 2|macular degeneration, senile

Related symptoms:

  • Macular degeneration


SOURCES: MESH OMIM MENDELIAN

More info about MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2

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Other less relevant matches:

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 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Low match RETINITIS PIGMENTOSA 48; RP48


Related symptoms:

  • Visual impairment
  • Rod-cone dystrophy
  • Retinal dystrophy
  • Macular degeneration


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 48; RP48

Top 5 symptoms//phenotypes associated to Autoimmunity and Macular degeneration

Symptoms // Phenotype % cases
Cataract Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Photophobia Uncommon - Between 30% and 50% cases
Rod-cone dystrophy Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Vomiting Constipation Hypogonadism Diabetes mellitus Hypothyroidism Short neck Pain Respiratory distress Abnormality of the liver Congestive heart failure Kyphosis Nausea Hypertension Pigmentary retinopathy Sensorineural hearing impairment Short stature Intellectual disability Retinal pigment epithelial atrophy Growth delay Nyctalopia Progressive sensorineural hearing impairment Hearing impairment Visual loss Nystagmus Blindness

Rare Symptoms - Less than 30% cases


Renal insufficiency Abnormality of the dentition Depressivity Encephalopathy Cardiomyopathy Hyporeflexia Myoclonus Dystonia Ataxia Global developmental delay Muscle weakness Respiratory insufficiency Fatigue Gait disturbance Optic atrophy Hypertelorism Hepatomegaly Abdominal pain Motor delay Feeding difficulties Cognitive impairment Failure to thrive Muscular hypotonia Peripheral neuropathy Apnea Weight loss Aplasia/Hypoplasia of the cerebellum Abnormality of retinal pigmentation Generalized hirsutism Hypogonadotrophic hypogonadism Pancreatitis Goiter Growth abnormality Vestibular dysfunction Left ventricular hypertrophy Glomerulopathy Posterior subcapsular cataract Tubulointerstitial nephritis Retinal dystrophy Retinal degeneration Scoliosis Respiratory tract infection Anorexia Involuntary movements Autism Generalized tonic-clonic seizures Dyspnea Gastroesophageal reflux Jaundice Myalgia Proteinuria Female hypogonadism Dilated cardiomyopathy Ophthalmoplegia Pulmonary arterial hypertension Carious teeth Delayed puberty Paresthesia Hirsutism Nephropathy Specific learning disability Type II diabetes mellitus Chronic active hepatitis Polydactyly Malabsorption Adrenal insufficiency Hypoparathyroidism Primary adrenal insufficiency Thyroiditis Abnormal retinal morphology Diarrhea Hepatitis Anemia Diabetes insipidus Otitis media Constriction of peripheral visual field Cholelithiasis Hypopigmented skin patches Attenuation of retinal blood vessels Chronic diarrhea Type I diabetes mellitus Sinusitis Cerebral calcification Vitiligo Hypergonadotropic hypogonadism Optic disc pallor Retinal detachment Muscle cramps Alopecia Retinopathy Nausea and vomiting Pallor Hypotrichosis Abnormal chorioretinal morphology Urinary urgency Lipodystrophy Hydroureter Polydipsia Truncal obesity Hyperinsulinemia Precocious puberty Portal hypertension Impaired vibratory sensation Pulmonary fibrosis Emphysema Obsessive-compulsive behavior Sciatica Glucose intolerance Nephritis Hyperglycemia Hyperostosis Chronic otitis media Pericardial effusion Acne Polyuria Glycosuria Delayed pubic bone ossification Gingivitis Alopecia of scalp Hyperventilation Poor coordination Oligomenorrhea Broad foot Ketoacidosis Pendular nystagmus Retinal atrophy Right ventricular hypertrophy Elevated serum creatinine Acute hepatic failure Recurrent bronchitis Flattened epiphysis Tubular atrophy Peripheral visual field loss Insulin-resistant diabetes mellitus Retinoschisis Hyperuricemia Chorioretinal atrophy Polyphagia Short finger Agenesis of permanent teeth Bronchitis Limited hip movement Increased number of teeth Cervical myelopathy Subcapsular cataract Pericarditis Thoracic scoliosis Autoimmune thrombocytopenia Severe sensorineural hearing impairment Hypoventilation Elevated alkaline phosphatase Severe short stature Abnormality of the hand Infertility Vesicoureteral reflux Asthma Abdominal distention Ascites Sleep disturbance Hepatic steatosis Hepatic failure Tachycardia Cirrhosis Stage 5 chronic kidney disease Lymphadenopathy Limitation of knee mobility Dry skin Pulmonic stenosis Round face Hypermetropia Cough Scarring Sparse hair Autistic behavior Postnatal growth retardation Irritability Abnormality of the kidney Conductive hearing impairment Elevated hepatic transaminase Deeply set eye Hepatosplenomegaly Pes planus Urinary incontinence Gastrointestinal hemorrhage Polycystic ovaries Recurrent pneumonia Cone/cone-rod dystrophy Tachypnea Hypercholesterolemia Hyperlipidemia Neonatal short-trunk short stature Atherosclerosis Acanthosis nigricans Oligospermia Accelerated skeletal maturation Absence seizures Nephrocalcinosis Increased body weight Horizontal nystagmus Short toe Growth hormone deficiency Gynecomastia Hyperpigmentation of the skin Hepatic fibrosis Decreased liver function Insulin resistance Thickened skin Recurrent urinary tract infections Recurrent otitis media Hypertriglyceridemia Epidermal acanthosis Cardiomegaly Cyanosis Progressive visual loss Decreased testicular size Myocarditis Menstrual irregularities Male hypogonadism Hyperostosis frontalis interna Abnormal retinal artery morphology Widely-spaced incisors Abnormal lung morphology Abnormality of the metaphysis Recurrent cystitis Abnormal form of the vertebral bodies Glue ear Unilateral breast hypoplasia Dilatation of the bladder Thickened ears Abnormality of epiphysis morphology Granular macular appearance Receptive language delay Abnormal adipose tissue morphology EEG with occipital slowing Nonproductive cough Rhizomelia Exudative retinopathy Increased circulating androgen level Coxa vara High-frequency sensorineural hearing impairment Sleep apnea Childhood-onset truncal obesity Multifocal atrial tachycardia ST segment depression Facial hirsutism Chronic hepatic failure Hepatic necrosis Precocious puberty in females Osteoarthritis Abnormality of the pituitary gland Narrow chest Midface retrusion Glaucoma Malar flattening Talipes equinovarus Myopia Skeletal dysplasia Arthritis Hyperlordosis Pectus carinatum Broad forehead Cleft palate Hip dislocation Platyspondyly Genu valgum Abnormality of prothrombin Micromelia Flat face Pulmonary hypoplasia Limitation of joint mobility Waddling gait Generalized hypotonia Limb undergrowth High myopia Abnormality of the femoral head Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Lumbar hyperlordosis Hypoplastic male external genitalia Urethral obstruction Myocardial fibrosis Vitreoretinopathy Poor fine motor coordination Urinary retention Short thorax Restrictive ventilatory defect Arteriosclerosis Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Abnormal renal physiology Disproportionate short stature Disinhibition Hypoplasia of the odontoid process Endocardial fibroelastosis Chills Barrel-shaped chest Abnormal renal morphology Hernia Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Restrictive cardiomyopathy Ovoid vertebral bodies Myelopathy Esophageal varix Chronic obstructive pulmonary disease Limited elbow movement Chronic fatigue Pyelonephritis Acute pancreatitis Squared iliac bones Abnormal spermatogenesis Renovascular hypertension Albuminuria Genu varum Abnormal muscle tone Impaired temperature sensation Kyphoscoliosis Epigastric pain Back pain Spondyloepiphyseal dysplasia Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Chronic infection Decreased glomerular filtration rate Bowing of the legs Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Frontal balding Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Achromatopsia Urethral stricture Anterior hypopituitarism Hyperkeratosis Anxiety Arthrogryposis multiplex congenita Lethargy Pruritus Neurological speech impairment Stroke Attention deficit hyperactivity disorder Erythema Protruding ear Abnormality of the pinna Developmental regression Feeding difficulties in infancy Mental deterioration Hypertrophic cardiomyopathy EEG abnormality Anal atresia Acidosis Gait ataxia Cerebral cortical atrophy Osteoporosis Dementia Cerebellar hypoplasia Delayed skeletal maturation Elevated serum creatine phosphokinase Areflexia Arrhythmia Cerebral atrophy Headache Hypertonia Congenital cataract Dysmetria Myopathy Memory impairment Decreased body weight Hypertrichosis Hemiparesis Atrial fibrillation Ventricular hypertrophy Psychosis Status epilepticus Nephrotic syndrome Bilateral sensorineural hearing impairment Generalized-onset seizure Abnormality of the cardiovascular system Amenorrhea Hip dysplasia Increased serum lactate Confusion Migraine Sensory impairment Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Postural instability Coma Polyneuropathy Polymicrogyria Lactic acidosis Peripheral axonal neuropathy Vertigo Ichthyosis Cerebellar atrophy Ventriculomegaly Hallucinations Photoreceptor layer loss on macular OCT Opacification of the corneal stroma Abnormality of the fingernails Hypocalcemia Hypoplasia of dental enamel Dehydration Hypotension Decreased antibody level in blood Skin rash Rigidity Reduced visual acuity Abnormal facial shape Arcuate scotoma Blind-spot enlargment Macular hole Macular atrophy Vitritis Abnormal choroid morphology Vitreous floaters Epiretinal membrane Macular scar Posterior uveitis Retinal thinning Cystoid macular edema Choroidal neovascularization Inflammatory abnormality of the eye Abnormality of the retinal vasculature Increased intraocular pressure Blurred vision Abnormality of the thyroid gland Metaphyseal dysplasia Dysphagia Alopecia areata Tremor Skeletal muscle atrophy Fever Dysarthria Hyperreflexia Ptosis Microcephaly 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 Increased circulating cortisol level Gastritis Central diabetes insipidus Alopecia universalis Decreased circulating aldosterone level Alopecia totalis Tetany Achalasia Abnormality of the cerebral vasculature Chronic mucocutaneous candidiasis Asplenia Antinuclear antibody positivity Adrenal hyperplasia Chronic sinusitis Gingival overgrowth Cerebral visual impairment Respiratory failure Dysesthesia Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Motor polyneuropathy Crohn's disease 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 Reduced consciousness/confusion Cerebral ischemia Abnormality of the cerebellar vermis Hemeralopia Increased CSF lactate Morphological abnormality of the vestibule of the inner ear Hyperhidrosis Recurrent respiratory infections Pneumonia Patent ductus arteriosus Clinodactyly Obesity Dilatation Splenomegaly Behavioral abnormality Delayed speech and language development Strabismus Prominent ear helix Morphological abnormality of the inner ear Bilateral intracranial calcifications Abnormal macular morphology 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 Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Wolff-Parkinson-White syndrome Visual hallucinations Clonus Atrioventricular block Mask-like facies Bifid scrotum Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Cachexia Chronic kidney disease Focal segmental glomerulosclerosis Easy fatigability Hyperkinesis Schizophrenia Mutism Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Purpura Exercise intolerance EMG abnormality Truncal ataxia Cardiac arrest Hemiplegia/hemiparesis Abnormality of neuronal migration Renal tubular dysfunction Drowsiness Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Progressive external ophthalmoplegia Mitochondrial myopathy Heart block Xerostomia Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Distal arthrogryposis Overlapping toe Pulmonary embolism Abnormality of immune system physiology Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Aphasia Bundle branch block Delayed calcaneal ossification



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