Autoimmunity, and Ophthalmoplegia

Diseases related with Autoimmunity and Ophthalmoplegia

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


Top matches:

Low match GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS


Guillain-Barre syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy characterized most commonly by symmetric limb weakness and loss of tendon reflexes. It is a putative autoimmune disorder presenting after an infectious illness, most commonly Campylobacter jejuni, a gram-negative bacterium that causes acute enteritis (Yuki and Tsujino, 1995; Koga et al., 2005). Approximately 1 in 1,000 individuals develops GBS after C. jejuni infection (Nachamkin, 2001).Although rare familial cases have been reported, GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors rather than a disorder following simple mendelian inheritance (Geleijns et al., 2004).

GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS Is also known as polyneuropathy, inflammatory demyelinating, acute|aidp

Related symptoms:

  • Ataxia
  • Ptosis
  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS

Low match RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME


Recessive mitochondrial ataxia syndrome is a rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.

RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME Is also known as miras

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME

Low match MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6


Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

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Other less relevant matches:

Low match VASCULITIS DUE TO ADA2 DEFICIENCY


Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.

VASCULITIS DUE TO ADA2 DEFICIENCY Is also known as ada2 deficiency|vasculitis due to dada2

Related symptoms:

  • Ataxia
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about VASCULITIS DUE TO ADA2 DEFICIENCY

Low match PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Low match THYROTOXIC PERIODIC PARALYSIS


Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about THYROTOXIC PERIODIC PARALYSIS

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 CONGENITAL PTOSIS


Congenital ptosis is characterized by superior eyelid drop present at birth.

Related symptoms:

  • Ptosis
  • Blepharophimosis
  • Ophthalmoplegia
  • External ophthalmoplegia
  • Congenital ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL PTOSIS

Low match TN POLYAGGLUTINATION SYNDROME; TNPS


Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

Top 5 symptoms//phenotypes associated to Autoimmunity and Ophthalmoplegia

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Ptosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Dysphagia Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ophthalmoparesis Hashimoto thyroiditis Hypertension Areflexia Feeding difficulties Hyporeflexia Dysarthria Gastroesophageal reflux Pain Fever Respiratory distress Dyspnea Arthrogryposis multiplex congenita Cyanosis Easy fatigability Nystagmus Hyperthyroidism Anemia Sensorineural hearing impairment Constipation Hepatomegaly Optic atrophy Motor delay Goiter Muscle weakness Myalgia Abnormality of the liver Weight loss Abdominal pain Intellectual disability Failure to thrive Cognitive impairment Headache Bulbar palsy Hearing impairment Respiratory failure

Rare Symptoms - Less than 30% cases


Prolonged QT interval Rhabdomyolysis Thyroiditis Pancreatitis Macular degeneration Hypogonadotrophic hypogonadism External ophthalmoplegia Abnormality of retinal pigmentation Abnormality of peripheral nerve conduction Urinary retention Global developmental delay Short stature Growth delay Hyperkalemia Aplasia/Hypoplasia of the cerebellum Retinal pigment epithelial atrophy Hyperreflexia Tubulointerstitial nephritis Recurrent respiratory infections Posterior subcapsular cataract Kyphoscoliosis Motor polyneuropathy Muscle fiber atrophy Tremor EMG abnormality Obesity Glomerulopathy Hyperhidrosis Progressive sensorineural hearing impairment Tachycardia Muscle cramps Cataract Specific learning disability Fatigue Visual impairment Pulmonary arterial hypertension Jaundice Involuntary movements Photophobia Proteinuria Nyctalopia Dilated cardiomyopathy Generalized tonic-clonic seizures Autism Carious teeth Delayed puberty Nausea Hirsutism Nephropathy Type II diabetes mellitus Pigmentary retinopathy Hypothyroidism Diabetes mellitus Respiratory insufficiency Kyphosis Short neck Cardiomyopathy Blindness Vomiting Congestive heart failure Abnormality of the dentition Dystonia Anorexia Aphasia Renal insufficiency Depressivity Encephalopathy Visual loss Rod-cone dystrophy Myoclonus Left ventricular hypertrophy Hypogonadism Generalized hirsutism Splenomegaly Primary adrenal insufficiency Tetraplegia Hemiparesis Poor suck Polyhydramnios Elevated hepatic transaminase Glycosuria Weak cry Fatigable weakness Sensory impairment Dilatation Esotropia Dysmetria Raynaud phenomenon Stroke Acetylcholine receptor antibody positivity Strabismus Apneic episodes precipitated by illness, fatigue, stress Pure red cell aplasia Lymphadenopathy Hepatosplenomegaly Proximal muscle weakness Impaired vibratory sensation Psychosis Paresthesia Behavioral abnormality Paralysis Gait disturbance Generalized hypotonia Respiratory tract infection Generalized muscle weakness Purpura Apnea Hepatitis Diplopia Hemiplegia Leukopenia Hemolytic anemia Ischemic stroke Sudden episodic apnea Polyneuropathy Recurrent urinary tract infections Cardiomegaly Otitis media Growth hormone deficiency Optic disc pallor Hypertriglyceridemia Decreased testicular size Epidermal acanthosis Chronic diarrhea Recurrent otitis media Insulin resistance Progressive visual loss Gastrointestinal hemorrhage Decreased liver function Thickened skin Absence seizures Hepatic fibrosis Cone/cone-rod dystrophy Obsessive-compulsive behavior Chronic otitis media Nephritis Polydipsia Portal hypertension Lipodystrophy Hyperinsulinemia Precocious puberty Elevated alkaline phosphatase Cholelithiasis Abnormality of the hand Polycystic ovaries Tachypnea Hyperpigmentation of the skin Hypercholesterolemia Hyperlipidemia Atherosclerosis Acanthosis nigricans Accelerated skeletal maturation Nephrocalcinosis Increased body weight Horizontal nystagmus Recurrent pneumonia Hypergonadotropic hypogonadism Short toe Gynecomastia Sinusitis Round face Combined immunodeficiency Urinary incontinence Paronychia 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 Abnormal mitochondrial morphology Spotty hypopigmentation Scoliosis Auditory hallucinations Writer's cramp Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Gastroparesis Amaurosis fugax Abnormal nerve conduction velocity Abnormal macular morphology Renal Fanconi syndrome Tubulointerstitial abnormality Psychotic episodes Abnormality of the cerebellar vermis Crohn's disease Hemeralopia Prominent ear helix Delayed speech and language development Vesicoureteral reflux Cirrhosis Hypermetropia Pulmonic stenosis Infertility Dry skin Retinal degeneration Stage 5 chronic kidney disease Hepatic failure Cough Retinal dystrophy Hepatic steatosis Sleep disturbance Ascites Abdominal distention Asthma Hypotrichosis Retinopathy Clinodactyly Deeply set eye Patent ductus arteriosus Alopecia Pneumonia Polydactyly Hyperkeratosis Pes planus Conductive hearing impairment Scarring Abnormality of the kidney Irritability Postnatal growth retardation Pallor Autistic behavior Sparse hair Constriction of peripheral visual field Truncal obesity Acne Abnormality of the urethra Abnormality of the pituitary gland Urethral obstruction Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Female hypogonadism Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Lumbar scoliosis Chronic infection Hepatic necrosis 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 Multinodular goiter Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Hypoplastic male external genitalia Chronic hepatic failure Acute pancreatitis Glue ear Leukemia Thrombocytopenia Congenital ptosis Blepharophimosis Abnormality of the femoral head Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Recurrent cystitis Unilateral breast hypoplasia Facial hirsutism Dilatation of the bladder Thickened ears Granular macular appearance Receptive language delay Hyperostosis frontalis interna Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Multifocal atrial tachycardia ST segment depression Achromatopsia Chills Hyperostosis Bronchitis Hyperventilation Alopecia of scalp Peripheral visual field loss Retinal atrophy Insulin-resistant diabetes mellitus Hypoventilation Severe sensorineural hearing impairment Autoimmune thrombocytopenia Thoracic scoliosis Pericarditis Subcapsular cataract Increased number of teeth Hyperuricemia Agenesis of permanent teeth Oligomenorrhea Short finger Polyphagia Chorioretinal atrophy Pericardial effusion Abnormal retinal morphology Dysesthesia Urinary urgency Hydroureter Pulmonary fibrosis Emphysema Polyuria Glucose intolerance Diabetes insipidus Hyperglycemia Poor coordination Broad foot Pyelonephritis Restrictive cardiomyopathy Poor fine motor coordination Arteriosclerosis Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Abnormal renal physiology Disinhibition Endocardial fibroelastosis Abnormal renal morphology Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Esophageal varix Ketoacidosis Chronic obstructive pulmonary disease Chronic fatigue Myocardial fibrosis Male hypogonadism Oligospermia Myocarditis Tubular atrophy Recurrent bronchitis Acute hepatic failure Elevated serum creatinine Right ventricular hypertrophy Attenuation of retinal blood vessels Pendular nystagmus Gingivitis Psychomotor deterioration Cardiorespiratory arrest Episodic vomiting Increased intramyocellular lipid droplets Thyrotoxicosis with toxic multinodular goitre Thyrotoxicosis with toxic single thyroid nodule Transient hypophosphatemia Decreased urinary potassium Episodic hypokalemia Thyrotoxicosis with diffuse goiter Second degree atrioventricular block Episodic flaccid weakness Respiratory paralysis Late-onset proximal muscle weakness Exercise-induced muscle fatigue Periodic hypokalemic paresis Shortened PR interval Microcephaly Impaired myocardial contractility Postprandial hyperglycemia Abnormality of muscle fibers Periodic paralysis Muscle specific kinase antibody positivity Single fiber EMG abnormality Graves disease Heat intolerance Hypomagnesemia Immunodeficiency Mildly elevated creatine phosphokinase Ventricular fibrillation Myotonia Generalized hypotonia due to defect at the neuromuscular junction Hypertelorism Arthritis Abnormality of the immune system Acidosis Gait ataxia Cerebral cortical atrophy Aspiration Respiratory insufficiency due to muscle weakness Osteoporosis Systemic lupus erythematosus Dementia Cerebellar hypoplasia Delayed skeletal maturation Elevated serum creatine phosphokinase Arrhythmia Rheumatoid arthritis Cerebral atrophy Muscular hypotonia Hypertonia Acrocyanosis Diarrhea Myositis Cerebellar atrophy Myopathy Type 2 muscle fiber atrophy EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Abnormality of the thymus Ventriculomegaly Hyperacusis Skeletal muscle atrophy Decreased miniature endplate potentials Hypokalemia Muscle stiffness Anxiety High palate EMG: myopathic abnormalities Microretrognathia Congenital hip dislocation Decreased fetal movement Waddling gait Distal amyotrophy Long face Pectus carinatum Joint laxity Difficulty walking Pes cavus Cutis marmorata Low-set ears Dysphonia Cerebral hemorrhage Leukocytosis Agitation Central retinal artery occlusion Retinal arterial occlusion Lupus anticoagulant Panniculitis Antiphospholipid antibody positivity Erythema nodosum Granulocytopenia Immune dysregulation Hypercoagulability Thrombocytosis Poor head control Nasal speech Palpitations Nasal regurgitation Skin rash Lower limb muscle weakness Proptosis Papule Paraplegia Decreased antibody level in blood Pancytopenia EMG: impaired neuromuscular transmission Episodic respiratory distress Frontalis muscle weakness Intermittent episodes of respiratory insufficiency due to muscle weakness Narrow jaw Choking episodes Staring gaze Stridor EEG with polyspike wave complexes Central sleep apnea Spinal deformities Respiratory arrest Foot dorsiflexor weakness Vasculitis Distal lower limb muscle weakness Limb-girdle muscle weakness Obstructive sleep apnea Central hypotonia Neck muscle weakness Spinal rigidity Toe walking EEG abnormality Tapered finger Abnormality of the renal tubule Focal segmental glomerulosclerosis Pulmonary embolism Abnormality of immune system physiology Basal ganglia calcification Vertebral fusion Multiple lipomas Visual field defect Dysphasia Vestibular dysfunction Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Hemiplegia/hemiparesis Drowsiness Mask-like facies Bifid scrotum Acute demyelinating polyneuropathy Intestinal obstruction Personality changes Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Distal arthrogryposis Atopic dermatitis Growth abnormality Increased CSF lactate Hemianopia Ileus Proximal tubulopathy Limb muscle weakness Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Visual hallucinations Abnormality of visual evoked potentials Renal tubular dysfunction Aortic dissection Facial diplegia Elevated erythrocyte sedimentation rate Delusions Transient ischemic attack Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Chronic kidney disease Hyperkinesis Hypertrophic cardiomyopathy Confusion Increased serum lactate Migraine Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Postural instability Coma Rigidity Polymicrogyria Lactic acidosis Peripheral axonal neuropathy Vertigo Ichthyosis Anal atresia Hip dysplasia Malabsorption Nausea and vomiting Congenital cataract Lethargy Pruritus Neurological speech impairment Attention deficit hyperactivity disorder Erythema Protruding ear Abnormality of the pinna Developmental regression Feeding difficulties in infancy Mental deterioration Memory impairment Amenorrhea Schizophrenia Sensory axonal neuropathy Mutism Hypopigmented skin patches Ragged-red muscle fibers Reduced tendon reflexes Exercise intolerance Type I diabetes mellitus Abnormality of movement Truncal ataxia Cardiac arrest Clonus Cerebral visual impairment Hallucinations Gingival overgrowth ST segment elevation Cerebral calcification Decreased body weight Increased serum pyruvate Hypertrichosis Atrial fibrillation Ventricular hypertrophy Status epilepticus Positive Romberg sign Limb dysmetria Nephrotic syndrome Bilateral sensorineural hearing impairment Generalized-onset seizure Abnormality of the cardiovascular system Abnormality of central motor conduction Abnormal erythrocyte morphology



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