Autoimmunity, and Esotropia

Diseases related with Autoimmunity and Esotropia

In the following list you will find some of the most common rare diseases related to Autoimmunity and Esotropia 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 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 DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

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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

Low match AICARDI-GOUTIERES SYNDROME 1; AGS1


Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

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

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

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 PSEUDOHYPOPARATHYROIDISM TYPE 1A


Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).

PSEUDOHYPOPARATHYROIDISM TYPE 1A Is also known as albright hereditary osteodystrophy-php syndrome ia|aho-php syndrome ia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1A

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

Top 5 symptoms//phenotypes associated to Autoimmunity and Esotropia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Mendelian

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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ptosis Nystagmus Strabismus Ophthalmoplegia Dysphagia Proximal muscle weakness Feeding difficulties Headache Neoplasm Hashimoto thyroiditis Short stature Recurrent infections Global developmental delay Diplopia Cognitive impairment Low-set ears High palate Dysarthria Hemolytic anemia Areflexia Paresthesia Bulbar palsy Fever Thrombocytopenia Muscle weakness

Rare Symptoms - Less than 30% cases


Peripheral neuropathy Leukemia Spasticity Apneic episodes precipitated by illness, fatigue, stress Hypocalcemia Sudden episodic apnea Hyperthyroidism Irritability Obesity Rheumatoid arthritis Exotropia Scoliosis Failure to thrive Broad thumb Acetylcholine receptor antibody positivity Microcephaly Cerebral calcification Hypertelorism Micrognathia Dilatation Dyspnea Anemia Delayed speech and language development Immunodeficiency Short neck Behavioral abnormality Hepatitis Hypothyroidism Hydrocephalus Hyporeflexia Abnormality of the kidney Acrocyanosis Difficulty walking Confusion Polyhydramnios Brachydactyly Cataract Motor delay Basal ganglia calcification Sensorineural hearing impairment Respiratory failure Pain Ophthalmoparesis Depressivity Tetraplegia Arthrogryposis multiplex congenita Tremor Easy fatigability Fatigable weakness Narrow mouth Cyanosis Systemic lupus erythematosus Polymicrogyria Incoordination Abnormality of the thymus Poor head control Generalized muscle weakness Poor suck Nasal speech Atrial septal defect Weak cry Cellulitis Multiple lipomas Abnormality of the thyroid gland Macule Cystic hygroma Hodgkin lymphoma Multiple cafe-au-lait spots Hydrocele testis Cavernous hemangioma Long penis Cellular immunodeficiency Bone cyst Intestinal polyposis Ovarian cyst Astrocytoma Abnormality of the uterus Furrowed tongue Arteriovenous malformation Meningioma Acute myeloid leukemia Megalencephaly Skin tags Prolactin excess Papilledema Abnormality of the vasculature Lipoma Scaphocephaly Renal cell carcinoma Thyroiditis Ovarian neoplasm Hamartoma Cutis marmorata Lymphopenia Melanocytic nevus Pectus excavatum Abnormal cerebellum morphology Hypoplasia of the maxilla Palmoplantar keratoderma Joint hypermobility Nausea and vomiting Papule Intellectual disability, moderate Carcinoma Autism Kyphosis Lymphoma Intellectual disability, mild Diarrhea Myopathy Frontal bossing Downslanted palpebral fissures Macrocephaly Skeletal muscle atrophy Myopia Abnormal erythrocyte morphology Macroglossia Decreased antibody level in blood Hand polydactyly Drooling Intracranial hemorrhage Dysdiadochokinesis Palmoplantar hyperkeratosis Goiter Breast carcinoma Melanoma Hypopigmented skin patches Increased intracranial pressure Hemangioma Cranial nerve paralysis Overgrowth Neoplasm of the skin Leukopenia Gynecomastia Papilloma Cafe-au-lait spot Chronic diarrhea Telangiectasia Subcutaneous nodule Intention tremor Enlarged polycystic ovaries Merkel cell skin cancer Hamartomatous polyposis Short 4th metacarpal Prolactin deficiency Band keratopathy Hypocalcemic seizures Pseudohypoparathyroidism Laryngeal dystonia Short 5th metacarpal Constrictive median neuropathy Autoimmune antibody positivity Elevated circulating parathyroid hormone level Calcinosis Hyperphosphatemia Hypocalcemic tetany Spinal cord compression Oligomenorrhea Thickened calvaria Polyphagia Prolonged QT interval Short metatarsal Reduced bone mineral density Conjunctivitis Hypergonadotropic hypogonadism Increased bone mineral density Myoclonic spasms Abnormal platelet function Involuntary movements Hyperreflexia CNS demyelination Brain neoplasm Emotional lability Hyperkinesis Muscle stiffness Memory impairment Urinary incontinence Scarring Constipation Visual loss Visual impairment Elevated calcitonin Broad 1st metacarpal Pituitary resistance to thyroid hormone Hyperostosis frontalis interna Osteoma cutis Broad distal phalanx of the thumb Choroid plexus calcification Low urinary cyclic AMP response to PTH administration Short 3rd metacarpal Short fifth metatarsal Abdominal symptom Ectopic ossification Hypoplasia of dental enamel Choreoathetosis Fibroma Follicular thyroid carcinoma Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Varicocele Trichilemmoma Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Enlarged cerebellum Dysplastic gangliocytoma of the cerebellum Growth hormone deficiency Limb dysmetria Short metacarpal Round face Full cheeks Chest pain Muscle cramps Delayed eruption of teeth Anxiety Hypertension Depressed nasal bridge Abnormality of central motor conduction Positive Romberg sign Conjunctival hamartoma Increased serum pyruvate ST segment elevation Sensory axonal neuropathy Impaired vibratory sensation Dysmetria Abnormality of movement Gait disturbance Lobular carcinoma in situ Multiple trichilemmomata Deep white matter hypodensities Ductal carcinoma in situ Increased CSF interferon alpha Encephalopathy Chronic CSF lymphocytosis Blepharophimosis Bifid uvula High, narrow palate Iris coloboma Bulbous nose Astigmatism Generalized tonic-clonic seizures Microtia Short philtrum Attention deficit hyperactivity disorder Craniosynostosis Renal agenesis Abnormality of the pinna Cleft lip Telecanthus Arthritis Hydronephrosis Umbilical hernia Retrognathia Posteriorly rotated ears Inguinal hernia Chorea Specific learning disability Patent ductus arteriosus Arnold-Chiari malformation Bipolar affective disorder Posterior embryotoxon Autoimmune thrombocytopenia Autoimmune hemolytic anemia Inflammation of the large intestine Acne Unilateral renal agenesis Psoriasiform dermatitis Cholelithiasis Schizophrenia Amenorrhea Bicuspid aortic valve Purpura Spina bifida Amblyopia Renal dysplasia Primary amenorrhea Short palpebral fissure Low posterior hairline Coarctation of aorta Tetralogy of Fallot Abnormal heart morphology Abnormality of cardiovascular system morphology Hypoparathyroidism Distal amyotrophy Spinal rigidity Toe walking Stridor Dysphonia EMG: myopathic abnormalities Microretrognathia Congenital hip dislocation Decreased fetal movement Waddling gait Long face Central hypotonia Pectus carinatum Joint laxity Kyphoscoliosis Gastroesophageal reflux Pes cavus Recurrent respiratory infections Acute demyelinating polyneuropathy Sensory impairment Polyneuropathy Limb muscle weakness Neck muscle weakness Obstructive sleep apnea Microphthalmia Intermittent episodes of respiratory insufficiency due to muscle weakness Hypertonia Hypoplasia of the corpus callosum Ventricular septal defect Flexion contracture Cleft palate Abnormal facial shape EMG: impaired neuromuscular transmission Episodic respiratory distress Frontalis muscle weakness Narrow jaw Limb-girdle muscle weakness Choking episodes Nasal regurgitation Staring gaze EEG with polyspike wave complexes Central sleep apnea Spinal deformities Respiratory arrest Muscle fiber atrophy Motor polyneuropathy Distal lower limb muscle weakness Vitiligo Meningocele Chilblains Glaucoma Brain atrophy Abnormality of the cerebral white matter Severe global developmental delay Skin rash Feeding difficulties in infancy Muscular hypotonia of the trunk Elevated hepatic transaminase Hepatosplenomegaly Cerebral cortical atrophy Agenesis of corpus callosum Abnormality of extrapyramidal motor function Pneumonia Cerebral atrophy Splenomegaly Dystonia Cerebellar atrophy Abnormality of the skeletal system Hepatomegaly Single fiber EMG abnormality Muscle specific kinase antibody positivity Generalized hypotonia due to defect at the neuromuscular junction Peripheral demyelination Spastic tetraplegia Hyperacusis Episodic fever CSF lymphocytic pleiocytosis Multiple gastric polyps Autoamputation CSF pleocytosis Lymphocytosis Vegetative state Morphological abnormality of the pyramidal tract Diffuse cerebral atrophy Progressive encephalopathy Atrophy/Degeneration affecting the brainstem Intellectual disability, profound Prolonged neonatal jaundice Congenital glaucoma Petechiae Spastic diplegia Encephalitis Cerebral palsy Leukoencephalopathy Leukodystrophy Progressive microcephaly Postnatal microcephaly Decreased miniature endplate potentials Pure red cell aplasia Sclerocornea Femoral hernia Conotruncal defect Vascular tortuosity Abnormality of the middle ear Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Impaired T cell function Right aortic arch Alcoholism Perimembranous ventricular septal defect Arteria lusoria Interrupted aortic arch Graves disease Aplasia of the uterus Hypoplasia of the thymus Anterior segment developmental abnormality Seborrheic dermatitis Juvenile rheumatoid arthritis Tetany Myelomeningocele Truncus arteriosus Aplasia of the thymus Right aortic arch with mirror image branching EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Tapered finger Type 2 muscle fiber atrophy Myositis Raynaud phenomenon Primary adrenal insufficiency Abnormality of the immune system Glycosuria Respiratory insufficiency due to muscle weakness Aspiration Psychosis Paralysis Esophoria Respiratory tract infection Apnea Rigidity Respiratory distress Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Sacral meningocele Accommodative esotropia Urinary hesitancy



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