Autoimmunity, and Dysphagia

Diseases related with Autoimmunity and Dysphagia

In the following list you will find some of the most common rare diseases related to Autoimmunity and Dysphagia 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 LIMITED CUTANEOUS SYSTEMIC SCLEROSIS


Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.

LIMITED CUTANEOUS SYSTEMIC SCLEROSIS Is also known as limited cutaneous systemic scleroderma

Related symptoms:

  • Dysphagia
  • Gastroesophageal reflux
  • Autoimmunity
  • Nausea and vomiting
  • Abnormality of skin pigmentation


SOURCES: ORPHANET MENDELIAN

More info about LIMITED CUTANEOUS SYSTEMIC SCLEROSIS

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

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Other less relevant matches:

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 IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10


Common variable immunodeficiency-10 is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10 Is also known as deficit in anterior pituitary function and variable immunodeficiency|david|immunodeficiency, common variable, with central adrenal insufficiency

Related symptoms:

  • Global developmental delay
  • Spasticity
  • Gait disturbance
  • Dysphagia
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

Low match DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS


Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Hypertension
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS

Low match HEREDITARY ANGIOEDEMA TYPE 1


Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.

HEREDITARY ANGIOEDEMA TYPE 1 Is also known as hae 1|angioneurotic edema, hereditary|hereditary angioneurotic edema type 1|hae-i|hane|c1 esterase inhibitor, deficiency of

Related symptoms:

  • Pain
  • Peripheral neuropathy
  • Dysphagia
  • Respiratory distress
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY ANGIOEDEMA TYPE 1

Low match REYNOLDS SYNDROME


Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).

REYNOLDS SYNDROME Is also known as primary biliary cirrhosis and systemic scleroderma|primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Fatigue
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about REYNOLDS 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 PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Top 5 symptoms//phenotypes associated to Autoimmunity and Dysphagia

Symptoms // Phenotype % cases
Gastroesophageal reflux Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Ophthalmoplegia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Bulbar palsy Ptosis Generalized hypotonia Raynaud phenomenon Skin ulcer Recurrent respiratory infections Telangiectasia of the skin Dyspnea Pain Peripheral neuropathy Areflexia

Rare Symptoms - Less than 30% cases


Arthrogryposis multiplex congenita Paresthesia Hemolytic anemia Generalized muscle weakness Cyanosis Xerostomia Diplopia Easy fatigability Systemic lupus erythematosus Respiratory tract infection Poor suck Weak cry Fatigable weakness Polyhydramnios Erythema Asthma Scleroderma Sensorineural hearing impairment Diarrhea Inflammatory abnormality of the skin Intellectual disability Bronchiectasis Recurrent infections Immunodeficiency Global developmental delay Vomiting Weight loss Arthritis Respiratory distress Acetylcholine receptor antibody positivity Apneic episodes precipitated by illness, fatigue, stress Sudden episodic apnea High palate Telangiectasia Proximal muscle weakness Fever Hashimoto thyroiditis Respiratory failure Sensory impairment Esotropia Ophthalmoparesis Nausea and vomiting Abnormality of the skin Pulmonary arterial hypertension Pulmonary fibrosis Mucosal telangiectasiae Narrow foramen obturatorium Cognitive impairment Gait disturbance Feeding difficulties Hyporeflexia Stridor Glomerulonephritis Muscle weakness Failure to thrive Hearing impairment Vasculitis Irregular hyperpigmentation Pes cavus Steatorrhea Encephalitis Generalized abnormality of skin Hepatomegaly Gastrointestinal hemorrhage Abnormality of salivation Hyperbilirubinemia Nystagmus Fatigue Cholestasis Limbal edema Laryngeal edema Abnormal epiglottis morphology Low-set ears Keratoconjunctivitis sicca Motor delay Calcinosis cutis Respiratory insufficiency Antinuclear antibody positivity Skin rash Calcinosis Abnormality of the liver Esophageal varix Myalgia Elevated hepatic transaminase Biliary cirrhosis Lichenification Cirrhosis Palmar telangiectasia Abnormality of the gastric mucosa Ascites Sclerodactyly Lip telangiectasia Elevated alkaline phosphatase Splenomegaly Elevated erythrocyte sedimentation rate Pruritus Jaundice Limb-girdle muscle weakness Kyphoscoliosis Neutropenia Frontalis muscle weakness Episodic respiratory distress EMG: impaired neuromuscular transmission Short stature Scoliosis Abnormal facial shape Anemia Brachydactyly Abnormality of the skeletal system Myoclonus Conductive hearing impairment Abnormality of the nervous system Lymphoma Narrow jaw Eczema Lymphopenia Narrow palpebral fissure Leukopenia Recurrent skin infections Combined immunodeficiency Atopic dermatitis Severe combined immunodeficiency Allergic rhinitis Membranoproliferative glomerulonephritis Vasculitis in the skin Autoimmune neutropenia Intermittent episodes of respiratory insufficiency due to muscle weakness Choking episodes Difficulty walking Toe walking Joint laxity Pectus carinatum Long face Distal amyotrophy Waddling gait Decreased fetal movement Congenital hip dislocation Microretrognathia EMG: myopathic abnormalities Poor head control Dysphonia Nasal speech Spinal rigidity Nasal regurgitation Neck muscle weakness Central hypotonia Obstructive sleep apnea Abnormality of the uvula Distal lower limb muscle weakness Motor polyneuropathy Muscle fiber atrophy Respiratory arrest Spinal deformities Central sleep apnea EEG with polyspike wave complexes Staring gaze Tongue edema Oliguria Intestinal edema Abnormality of the thymus Respiratory insufficiency due to muscle weakness Rheumatoid arthritis Glycosuria Abnormality of the immune system Hyperthyroidism Primary adrenal insufficiency Acrocyanosis Myositis Type 2 muscle fiber atrophy EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Pure red cell aplasia Psychosis Hyperacusis Decreased miniature endplate potentials Generalized hypotonia due to defect at the neuromuscular junction Muscle specific kinase antibody positivity Single fiber EMG abnormality Spasticity Alopecia Hypoglycemia Nail dystrophy Decreased antibody level in blood Aspiration Hepatitis Sinusitis Abnormality of movement Limb muscle weakness Polyneuropathy Tetraplegia Acute demyelinating polyneuropathy Abnormality of skin pigmentation Joint contracture of the hand Hypopigmented skin patches Contractures involving the joints of the feet Behavioral abnormality Headache Dysmetria Tapered finger Impaired vibratory sensation Sensory axonal neuropathy ST segment elevation Increased serum pyruvate Positive Romberg sign Limb dysmetria Abnormality of central motor conduction Strabismus Rigidity Apnea Paralysis Growth hormone deficiency Meningitis Pharyngeal edema Lymphoproliferative disorder Abdominal pain Leukemia Peripheral axonal neuropathy Nausea Hypotension Hoarse voice Polycystic ovaries Urticaria Axonal degeneration Upper airway obstruction Multiple myeloma Edema Abnormality of the larynx Ovarian cyst Chronic lymphatic leukemia Inspiratory stridor Angioedema Facial edema Dermatographic urticaria Edema of the dorsum of hands Cryoglobulinemia Abnormal soft palate morphology Abnormal respiratory system morphology Abnormality of metabolism/homeostasis Abnormal bowel sounds Purpura Flexion contracture Psoriasiform dermatitis Adrenal insufficiency Autoimmune thrombocytopenia Vitiligo Chronic sinusitis Alopecia totalis Adrenocorticotropic hormone deficiency Alopecia areata Central adrenal insufficiency Trachyonychia Hypertension Hypertensive crisis Congestive heart failure Renal insufficiency Constipation Arthralgia Carious teeth Malabsorption Osteolysis Pulmonary infiltrates Osteolytic defects of the phalanges of the hand Dyspareunia Decreased urine output Cortical myoclonus



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