Autoimmunity, and Facial palsy

Diseases related with Autoimmunity and Facial palsy

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


Top matches:

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 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 HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS


Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.

HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS Is also known as mac duffie syndrome|mac duffie hypocomplementemic urticarial vasculitis|anti-c1q vasculitis|mcduffie hypocomplementemic urticarial vasculitis|mcduffie syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Sensorineural hearing impairment
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS

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Other less relevant matches:

Low match WALDENSTRÖM MACROGLOBULINEMIA


Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Anemia
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about WALDENSTRÖM MACROGLOBULINEMIA

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 SARCOIDOSIS, SUSCEPTIBILITY TO, 2; SS2


Related symptoms:

  • Facial palsy
  • Interstitial pulmonary abnormality


SOURCES: OMIM MENDELIAN

More info about SARCOIDOSIS, SUSCEPTIBILITY TO, 2; SS2

Low 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 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 BLAU SYNDROME; BLAUS


Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).

BLAU SYNDROME; BLAUS Is also known as arthrocutaneouveal granulomatosis|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|eos|jabs syndrome|granulomatosis, familial juvenile systemic|acug|sarcoidosis, early-onset|granulomatosis, familial, blau type

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BLAU SYNDROME; BLAUS

Top 5 symptoms//phenotypes associated to Autoimmunity and Facial palsy

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Vasculitis Common - Between 50% and 80% cases
Headache Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Stroke Fever Hearing impairment Cranial nerve paralysis Diarrhea Renal insufficiency Peripheral neuropathy Nausea and vomiting Myalgia Sensorineural hearing impairment Visual impairment Subcutaneous nodule Papule Cerebral ischemia Weight loss Visual loss Fatigue Motor delay Hypertension Glomerulopathy Pleural effusion Cataract Abdominal pain Arthritis Dyspnea Vertigo Memory impairment Migraine Gastrointestinal hemorrhage Pancreatitis Arthralgia Paresthesia Pulmonary infiltrates Purpura Anorexia Meningitis Malabsorption Blindness Skin rash Respiratory insufficiency Splenomegaly Neoplasm Cough Proteinuria Hemoptysis Lymphoma Hepatomegaly Uveitis Lymphadenopathy Nephropathy Hemiparesis Tremor Failure to thrive Cutis marmorata Developmental regression Hemiplegia Confusion Muscle weakness Intellectual disability Myocardial infarction

Rare Symptoms - Less than 30% cases


Restrictive ventilatory defect Kyphosis Myopathy Dilatation Inflammatory abnormality of the eye Immunologic hypersensitivity Episcleritis Skeletal muscle atrophy Cognitive impairment Anemia Hypertelorism Hemiplegia/hemiparesis Conjunctivitis Urticaria Reduced tendon reflexes Autism Congestive heart failure Hypothyroidism Hashimoto thyroiditis Thyroiditis Polymicrogyria Hyperthyroidism Abnormal cerebellum morphology Multiple lipomas Goiter Hypopigmented skin patches Short stature Recurrent infections Glaucoma Sensory neuropathy Chest pain Skin ulcer Erythema Venous thrombosis Intestinal obstruction Pericarditis Myositis Rheumatoid arthritis Pleuritis Granulomatosis Endocarditis Increased inflammatory response Photophobia Hyperreflexia Gait disturbance Increased intracranial pressure Retinopathy Global developmental delay Epistaxis Panuveitis Proptosis Leukemia Iritis Polyneuropathy Iridocyclitis Posterior uveitis Arrhythmia Anterior uveitis Elevated erythrocyte sedimentation rate Pulmonary embolism Raynaud phenomenon Reduced consciousness/confusion Periorbital edema Cardiomyopathy Gangrene Respiratory distress Hematuria Arteriovenous malformation Dysphagia Areflexia Hyporeflexia Muscle fiber atrophy Motor polyneuropathy Dementia Ophthalmoplegia Mental deterioration Paralysis High palate Stridor Easy fatigability Transient ischemic attack Gastroesophageal reflux Visual field defect Diplopia Aphasia Proximal muscle weakness Intracranial hemorrhage Personality changes Feeding difficulties Recurrent respiratory infections Arthrogryposis multiplex congenita Low-set ears Ptosis Nystagmus Behavioral abnormality Pruritus Hemianopia Dysarthria Amaurosis fugax Dysesthesia Abnormal cochlea morphology Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Psychomotor deterioration Homonymous hemianopia Large vessel vasculitis Gastroparesis Episodic vomiting Abnormality of the renal tubule Ileus Proximal tubulopathy Abnormality of acid-base homeostasis Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Paralytic ileus Synovitis Auditory hallucinations Cystoid macular edema Spotty hypopigmentation Paronychia Abnormal mitochondrial morphology Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Juvenile rheumatoid arthritis Macular edema Edema of the dorsum of hands Abnormal nerve conduction velocity Cochlear malformation Progressive night blindness Psychotic episodes Tubulointerstitial abnormality Abducens palsy Cochlear degeneration Abnormal mitochondrial shape Renal Fanconi syndrome Band keratopathy Flexion contracture of toe Wolff-Parkinson-White syndrome Left ventricular failure Hyponatremia Prolonged QT interval Hyperkalemia Dysphasia Vestibular dysfunction Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Ophthalmoparesis Abnormality of mitochondrial metabolism Progressive sensorineural hearing impairment Aortic aneurysm Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Hyperkinesis Schizophrenia Mutism Ischemic stroke Ragged-red muscle fibers Vertebral fusion Basal ganglia calcification Seborrheic dermatitis Progressive external ophthalmoplegia Stroke-like episode Anterior hypopituitarism Gait imbalance Bilateral intracranial calcifications Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Posterior subcapsular cataract Mitochondrial myopathy Rhabdomyolysis Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Tendonitis Atopic dermatitis Drowsiness Distal arthrogryposis Primary adrenal insufficiency Abnormality of immune system physiology Intermittent generalized erythematous papular rash Episodic quadriplegia Optic neuropathy Morphological abnormality of the vestibule of the inner ear Dysplastic gangliocytoma of the cerebellum Progressive macrocephaly Pseudopapilledema Mucosal telangiectasiae Acrokeratosis Prolactin excess Transitional cell carcinoma of the bladder Neoplasm of the thyroid gland Fibroadenoma of the breast Cutis marmorata telangiectatica congenita Enlarged cerebellum Trichilemmoma Papilledema Conjunctival hamartoma Endometrial carcinoma Abnormality of the vasculature Lipoma Scaphocephaly Renal cell carcinoma Ductal carcinoma in situ Hodgkin lymphoma Ovarian neoplasm Hamartoma Acute myeloid leukemia Multiple cafe-au-lait spots Cellulitis Cystic hygroma Colorectal polyposis Follicular thyroid carcinoma Macular degeneration Adenoma sebaceum Enlarged polycystic ovaries Long penis Papilloma Cellular immunodeficiency Hamartomatous polyposis Bone cyst Fibroma Generalized hyperkeratosis Neoplasm of the central nervous system Intestinal polyposis Decreased proportion of CD4-positive T cells Ovarian cyst Astrocytoma Varicocele Abnormality of the uterus Colonic diverticula Subcutaneous lipoma Furrowed tongue Abnormality of the penis Angioid streaks of the fundus Hydrocele testis Meningioma Ovarian carcinoma Intestinal polyp Megalencephaly Skin tags Thyroid adenoma Abnormality of the thyroid gland Merkel cell skin cancer Abnormal cranial nerve morphology Atrial septal defect Abnormality of the ear Hypoplasia of the maxilla Abnormal joint morphology Palmoplantar keratoderma Joint hypermobility Abnormality of the kidney Intellectual disability, moderate Carcinoma Narrow mouth Pectus excavatum Immunodeficiency Intellectual disability, mild Hydrocephalus Decreased antibody level in blood Frontal bossing Downslanted palpebral fissures Macrocephaly Myopia Brachydactyly Cavernous hemangioma Delayed speech and language development Joint swelling Micrognathia Scoliosis Generalized hypotonia Prominent ear helix Morphological abnormality of the inner ear Macroglossia Overgrowth Multiple trichilemmomata Inflammatory abnormality of the skin Macule Lobular carcinoma in situ Flexion contracture Edema Camptodactyly Melanocytic nevus Camptodactyly of finger Hand polydactyly Dysdiadochokinesis Eczema Incoordination Palmoplantar hyperkeratosis Breast carcinoma Intention tremor Melanoma Hemangioma Drooling Hypercalcemia Increased antibody level in blood Neoplasm of the skin Lymphopenia Gynecomastia Cafe-au-lait spot Exotropia Chronic diarrhea Telangiectasia Broad thumb External ophthalmoplegia Depressivity Exercise intolerance Edema of the lower limbs Polyclonal elevation of IgM Cryoglobulinemia Impaired lymphocyte transformation with phytohemagglutinin Monoclonal immunoglobulin M proteinemia Multifocal epileptiform discharges Retinal hemorrhage Abnormality of neutrophils Normocytic anemia Abnormality of the retinal vasculature Lymphoproliferative disorder Hypercoagulability Gingival bleeding Otitis media Pallor Small vessel vasculitis Obstructive lung disease Complement deficiency Angioedema Irregular hyperpigmentation Abnormal heart valve morphology Pericardial effusion Emphysema Nephritis Cerebral palsy Joint dislocation Hydronephrosis Sinusitis Ascites Nasal obstruction Interstitial pulmonary abnormality Prostatitis Recurrent intrapulmonary hemorrhage Scleritis Arteritis Abnormal oral cavity morphology Ureteral stenosis Neuritis Subglottic stenosis Ocular pain Rhinorrhea Elevated C-reactive protein level Recurrent corneal erosions Hoarse voice Abnormality of the hypothalamus-pituitary axis Abnormality of the nose Concave nasal ridge Angina pectoris Chronic obstructive pulmonary disease Tracheal stenosis Wheezing Petechiae Pulmonary fibrosis Diabetes insipidus Chronic otitis media Glomerulonephritis Recurrent bacterial infections Acetylcholine receptor antibody positivity Reduced visual acuity Pes cavus Decreased fetal movement Cyanosis Waddling gait Esotropia Generalized muscle weakness Distal amyotrophy Long face Pectus carinatum Joint laxity Difficulty walking Kyphoscoliosis Polyhydramnios Lupus anticoagulant Microretrognathia Antiphospholipid antibody positivity Vascular skin abnormality Thromboembolic stroke Arterial stenosis Facial paralysis Peripheral arterial stenosis Acrocyanosis Thrombocytosis Atrophic scars Heart murmur Systemic lupus erythematosus Chorea Congenital hip dislocation EMG: myopathic abnormalities EMG: impaired neuromuscular transmission Respiratory arrest Episodic respiratory distress Frontalis muscle weakness Intermittent episodes of respiratory insufficiency due to muscle weakness Narrow jaw Choking episodes Apneic episodes precipitated by illness, fatigue, stress Nasal regurgitation Sudden episodic apnea Staring gaze EEG with polyspike wave complexes Central sleep apnea Spinal deformities Distal lower limb muscle weakness Poor head control Limb-girdle muscle weakness Obstructive sleep apnea Central hypotonia Neck muscle weakness Fatigable weakness Weak cry Spinal rigidity Bulbar palsy Toe walking Nasal speech Poor suck Dysphonia Alopecia Irritability Type I diabetes mellitus Anal atresia Sensory impairment Sudden cardiac death Generalized myoclonic seizures Muscle cramps Postural instability Coma Hirsutism Nausea Lactic acidosis Peripheral axonal neuropathy Ichthyosis Dysmetria Delayed puberty Hip dysplasia Carious teeth Congenital cataract Lethargy Generalized tonic-clonic seizures Dilated cardiomyopathy Neurological speech impairment Attention deficit hyperactivity disorder Nyctalopia Abnormality of the liver Protruding ear Abnormality of the pinna Feeding difficulties in infancy Increased serum lactate Specific learning disability Hypertrophic cardiomyopathy Involuntary movements Hypogonadotrophic hypogonadism Generalized hirsutism EMG abnormality Truncal ataxia Cardiac arrest Clonus Cerebral visual impairment Hallucinations Abnormality of retinal pigmentation Gingival overgrowth Left ventricular hypertrophy Decreased body weight Hypertrichosis Amenorrhea Atrial fibrillation Ventricular hypertrophy Psychosis Status epilepticus Pulmonary arterial hypertension Type II diabetes mellitus Nephrotic syndrome Bilateral sensorineural hearing impairment Generalized-onset seizure Abnormality of the cardiovascular system Pigmentary retinopathy Cerebral calcification Apnea Anxiety Joint stiffness Abnormal myocardium morphology Superficial thrombophlebitis Orchitis Retrobulbar optic neuritis Optic neuritis Chorioretinitis Erythema nodosum Thrombophlebitis Oral ulcer Alopecia areata Stomatitis Recurrent aphthous stomatitis Arterial thrombosis Pustule Epididymitis Aseptic necrosis Keratoconjunctivitis sicca Blurred vision Epiphora Inflammation of the large intestine Acne Encephalitis Aortic regurgitation Mitral regurgitation Abnormal blistering of the skin Abnormal pyramidal sign Scarring Genital ulcers Decreased level of D-mannose in urine EEG abnormality Elevated serum creatine phosphokinase Jaundice Acidosis Gait ataxia Cerebral cortical atrophy Diabetes mellitus Hypogonadism Osteoporosis Myoclonus Rod-cone dystrophy Cerebellar hypoplasia Constipation Delayed skeletal maturation Encephalopathy Hypopyon Cerebral atrophy Dystonia Hypertonia Abnormality of the dentition Vomiting Cerebellar atrophy Short neck Ventriculomegaly Optic atrophy Muscular hypotonia Growth delay Microcephaly Nongranulomatous uveitis



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