Autoimmunity, and Paralysis

Diseases related with Autoimmunity and Paralysis

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


Top matches:

Low match MEGALOBLASTIC ANEMIA 1


Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a defect in the vitamin B12/intrinsic factor receptor. See also congenital pernicious anemia due to a defect in intrinsic factor (OMIM ).Adult pernicious anemia (OMIM ) is a distinct autoimmune disorder associated with plasma autoantibodies to gastric parietal cells or gastric intrinsic factor. In these cases, there is gastric atrophy and a relatively high frequency of associated thyroiditis and myxedema.

MEGALOBLASTIC ANEMIA 1 Is also known as pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria|mga1|enterocyte intrinsic factor receptor, defect of|enterocyte cobalamin malabsorption|igs|imerslund-grasbeck syndrome

Related symptoms:

  • Anemia
  • Dementia
  • Proteinuria
  • Paralysis
  • Autoimmunity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGALOBLASTIC ANEMIA 1

Low match NEUROMYELITIS OPTICA


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

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 CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA


Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.

CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA Is also known as congenital ttp|microangiopathic hemolytic anemia|thrombotic microangiopathy, familial|microangiopathic hemolytic anemia, congenital|congenital adamts-13 deficiency|upshaw factor, deficiency of|uss|thrombotic thrombocytopenic purpura, familial|familial ttp

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA

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 SNEDDON SYNDROME


Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome|livedo racemosa-cerebrovascular accident syndrome|livedo reticularis and cerebrovascular accidents|ehrmann-sneddon syndrome

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Visual impairment
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SNEDDON SYNDROME

Low match GRANULOMATOSIS WITH POLYANGIITIS


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

Low match KABUKI SYNDROME 1; KABUK1


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

Low match CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3


Related symptoms:

  • Seizures
  • Headache
  • Paralysis
  • Cerebral hemorrhage
  • Abnormality of the cerebrum


SOURCES: OMIM MESH MENDELIAN

More info about CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3

Low match NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C


HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Peripheral neuropathy
  • Areflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C

Top 5 symptoms//phenotypes associated to Autoimmunity and Paralysis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Headache Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hashimoto thyroiditis Fever Purpura Tremor Respiratory distress Renal insufficiency Hearing impairment Anemia Visual loss Confusion Proteinuria Hemolytic anemia Thyroiditis Paresthesia

Rare Symptoms - Less than 30% cases


Nephropathy Acrocyanosis Dementia Hyperthyroidism Poor suck Ophthalmoparesis Diplopia Global developmental delay Peripheral neuropathy Short stature Hydronephrosis Systemic lupus erythematosus Stroke Personality changes Myositis Hemiparesis Nausea and vomiting Skin rash Hemiplegia Abnormality of the kidney Jaundice Abdominal pain Arrhythmia Diarrhea Autoimmune thrombocytopenia Fatigue Hyperbilirubinemia Glomerulonephritis Sensory neuropathy Hyperkalemia Vasculitis Myocardial infarction Cerebral ischemia Myalgia Otitis media Hematuria Dyspnea Nausea Respiratory failure Vomiting Generalized hypotonia Failure to thrive Strabismus Ptosis Respiratory insufficiency Feeding difficulties Neuritis Dysarthria Ocular pain Visual impairment Obesity Malabsorption Respiratory tract infection Hyporeflexia Sensory impairment Weight loss Proptosis Astigmatism Coloboma Protruding ear Anal atresia Abnormality of the pinna Postnatal growth retardation Feeding difficulties in infancy Intellectual disability, moderate Abnormal cardiac septum morphology Severe short stature Joint laxity Hypospadias Dilatation Posteriorly rotated ears Abnormal heart morphology Patent ductus arteriosus Clinodactyly Micropenis Depressivity Anxiety Hernia Pneumonia Hypothyroidism Macrotia Pes planus Hypoglycemia Recurrent infections Muscular hypotonia Immunodeficiency Periorbital edema Episcleritis Abnormal oral cavity morphology Ureteral stenosis Endocarditis Granulomatosis Pleuritis Subglottic stenosis Rhinorrhea Elevated C-reactive protein level Increased inflammatory response Inflammatory abnormality of the eye Nasal obstruction Recurrent corneal erosions Abnormality of the hypothalamus-pituitary axis Abnormality of the nose Concave nasal ridge Angina pectoris Chronic obstructive pulmonary disease Tracheal stenosis Arteritis Scleritis Kyphosis High palate Intellectual disability, mild Abnormality of the dentition Atrial septal defect Ventricular septal defect Abnormality of the skeletal system Myopia Wide nasal bridge Brachydactyly Epicanthus Cryptorchidism Recurrent intrapulmonary hemorrhage Cleft palate Polymicrogyria Abnormal facial shape Micrognathia Growth delay Scoliosis Microcephaly Intellectual disability Prostatitis Joint hypermobility Failure to thrive in infancy Wide nose Broad philtrum Prominent fingertip pads Biliary atresia Bronchomalacia Diaphragmatic eventration Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Trichorrhexis nodosa Small face Abnormality of the middle ear Cholangitis Optic nerve coloboma Mitral stenosis Retinal coloboma Short 5th finger Depressed nasal tip Short columella Patellar dislocation Recurrent aspiration pneumonia Epibulbar dermoid Scaphocephaly Pilonidal sinus Distal muscle weakness Areflexia Abnormality of the cerebrum Cerebral hemorrhage Congenital mitral stenosis Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Short nasal septum Vertebral clefting Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Single ventricle Crossed fused renal ectopia Anorectal anomaly Common atrium Vitiligo Overweight Hirsutism Coarctation of aorta Abnormal vertebral morphology Cafe-au-lait spot Long eyelashes Renal dysplasia Heterotopia Recurrent otitis media Small nail Blue sclerae Congenital diaphragmatic hernia Increased body weight Microdontia Growth hormone deficiency Decreased antibody level in blood Dental malocclusion Prominent nose Intestinal malrotation Hypodontia Single transverse palmar crease Highly arched eyebrow Sparse and thin eyebrow Congenital hip dislocation Anal stenosis Right bundle branch block IgA deficiency Congenital hypothyroidism Autoimmune hemolytic anemia Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Bundle branch block Horseshoe kidney Hydroureter Preauricular pit Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Pulmonary infiltrates Abnormality of the urinary system Abnormal dermatoglyphics Gangrene Lupus anticoagulant Hemoptysis Pallor Microscopic hematuria Reticulocytosis Acute kidney injury Prolonged neonatal jaundice Increased serum lactate Abnormal bleeding Coma Thrombocytopenia Preeclampsia Single fiber EMG abnormality Muscle specific kinase antibody positivity Generalized hypotonia due to defect at the neuromuscular junction Acetylcholine receptor antibody positivity Apneic episodes precipitated by illness, fatigue, stress Sudden episodic apnea Decreased miniature endplate potentials Hyperacusis Elevated serum creatinine Abnormal renal physiology Abnormality of the thymus Tachycardia Hypokalemia Goiter EMG abnormality Muscle stiffness Palpitations Tetraplegia Muscle cramps Lower limb muscle weakness Hemolytic-uremic syndrome Hyperhidrosis Constipation Hyperreflexia Schistocytosis Microangiopathic hemolytic anemia Increased blood urea nitrogen Bloody diarrhea Neonatal hyperbilirubinemia Pure red cell aplasia EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Ventricular fibrillation Abnormality of brain morphology Polyhydramnios Dysphagia Myelitis Recurrent singultus Functional abnormality of the bladder CSF pleocytosis Optic neuritis Autoimmune antibody positivity Proximal muscle weakness Hyperkinesis Neuronal loss in central nervous system Peripheral demyelination Paraplegia Malabsorption of Vitamin B12 Vitamin B12 deficiency Poikiloderma Megaloblastic anemia Rigidity Apnea Type 2 muscle fiber atrophy Rheumatoid arthritis Raynaud phenomenon Primary adrenal insufficiency Fatigable weakness Weak cry Abnormality of the immune system Glycosuria Bulbar palsy Easy fatigability Arthrogryposis multiplex congenita Respiratory insufficiency due to muscle weakness Aspiration Psychosis Hepatitis Cyanosis Generalized muscle weakness Tapered finger Ophthalmoplegia Myotonia Mildly elevated creatine phosphokinase Wheezing Recurrent respiratory infections Gastrointestinal hemorrhage Chest pain Papule Cough Retinopathy Arthritis Arthralgia Cardiomyopathy Subcutaneous nodule Sensorineural hearing impairment Antiphospholipid antibody positivity Vascular skin abnormality Amaurosis fugax Thromboembolic stroke Arterial stenosis Hemianopia Facial paralysis Epistaxis Sinusitis Arteriovenous malformation Intestinal obstruction Pericarditis Glomerulopathy Elevated erythrocyte sedimentation rate Petechiae Restrictive ventilatory defect Pulmonary fibrosis Diabetes insipidus Stridor Skin ulcer Chronic otitis media Pleural effusion Venous thrombosis Cranial nerve paralysis Pancreatitis Conjunctivitis Meningitis Hoarse voice Peripheral arterial stenosis Transient ischemic attack Prolonged QT interval Impaired myocardial contractility Episodic flaccid weakness Respiratory paralysis Late-onset proximal muscle weakness Exercise-induced muscle fatigue Periodic hypokalemic paresis Increased intramyocellular lipid droplets Shortened PR interval Postprandial hyperglycemia Thyrotoxicosis with diffuse goiter Abnormality of muscle fibers Periodic paralysis Urinary retention Abnormality of peripheral nerve conduction Graves disease Heat intolerance Hypomagnesemia Rhabdomyolysis Second degree atrioventricular block Episodic hypokalemia Thrombocytosis Chorea Atrophic scars Visual field defect Aphasia Cutis marmorata Heart murmur Intracranial hemorrhage Memory impairment Migraine Vertigo Decreased urinary potassium Developmental regression Mental deterioration Facial palsy Behavioral abnormality Motor delay Thyrotoxicosis with toxic multinodular goitre Thyrotoxicosis with toxic single thyroid nodule Transient hypophosphatemia Distal sensory impairment



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