Autoimmunity, and EEG abnormality

Diseases related with Autoimmunity and EEG abnormality

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


Top matches:

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 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM


Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy|pdmi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

Low match KRABBE DISEASE


Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).

KRABBE DISEASE Is also known as gcl|galc deficiency|galactosylceramide beta-galactosidase deficiency|globoid cell leukodystrophy|galactocerebrosidase deficiency|globoid cell leukoencephalopathy|gld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KRABBE DISEASE

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Other less relevant matches:

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 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 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 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1


Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984).Two kinds of inherited C8 deficiency have been reported in man: type I, in which only C8 alpha and C8 gamma are deficient, and type II (OMIM ), in which only C8 beta (C8B ) is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1 Is also known as c8ag deficiency|c8 deficiency, type i|c8 alpha-gamma deficiency

Related symptoms:

  • Meningitis
  • Systemic lupus erythematosus
  • C8 deficiency
  • Recurrent Neisserial infections


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1

Low match MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY


Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY Is also known as mendelian susceptibility to interleukin 12 receptor beta 1 deficiency|il12rb1 deficiency|msmd due to complete il12rb1 deficiency|msmd due to complete interleukin 12 receptor beta 1 deficiency

Related symptoms:

  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Systemic lupus erythematosus
  • Recurrent mycobacterial infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY

Low match C1 INHIBITOR DEFICIENCY


Related symptoms:

  • Systemic lupus erythematosus
  • Angioedema


SOURCES: ORPHANET OMIM MENDELIAN

More info about C1 INHIBITOR DEFICIENCY

Top 5 symptoms//phenotypes associated to Autoimmunity and EEG abnormality

Symptoms // Phenotype % cases
Ataxia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
Systemic lupus erythematosus 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 EEG abnormality. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Muscle weakness

Rare Symptoms - Less than 30% cases


Fever Hyperreflexia Recurrent infections Tremor Hyporeflexia EMG abnormality Diarrhea Proptosis Visual loss Feeding difficulties Sensorineural hearing impairment Recurrent respiratory infections Pes cavus Hearing impairment Nystagmus Muscular hypotonia of the trunk Anemia Global developmental delay Hashimoto thyroiditis Pallor Leukemia Failure to thrive Vomiting Thyroiditis Motor delay Generalized hypotonia Ptosis Cranial nerve paralysis Abnormality of neutrophils Reduced consciousness/confusion Retinal hemorrhage Purpura Multifocal epileptiform discharges Anorexia Epistaxis Vasculitis Cutis marmorata Urticaria Pleural effusion Abnormality of the retinal vasculature Elevated erythrocyte sedimentation rate Gingival bleeding Pulmonary infiltrates Raynaud phenomenon Normocytic anemia Periorbital edema Hypercoagulability Lymphoproliferative disorder Edema of the lower limbs Stroke Memory impairment Thyrotoxicosis with toxic single thyroid nodule Postprandial hyperglycemia Impaired myocardial contractility Shortened PR interval Increased intramyocellular lipid droplets Periodic hypokalemic paresis Exercise-induced muscle fatigue Late-onset proximal muscle weakness Respiratory paralysis Episodic flaccid weakness Second degree atrioventricular block Thyrotoxicosis with diffuse goiter Episodic hypokalemia Decreased urinary potassium Transient hypophosphatemia Thyrotoxicosis with toxic multinodular goitre Gastrointestinal hemorrhage Impaired lymphocyte transformation with phytohemagglutinin Migraine Lymphoma Polyneuropathy Lymphadenopathy Vertigo Malabsorption Headache Neoplasm Renal insufficiency Splenomegaly Congestive heart failure Respiratory insufficiency Fatigue Hepatomegaly Monoclonal immunoglobulin M proteinemia Joint laxity Cryoglobulinemia Staring gaze Weak cry Fatigable weakness Neck muscle weakness Central hypotonia Obstructive sleep apnea Limb-girdle muscle weakness Distal lower limb muscle weakness Motor polyneuropathy Muscle fiber atrophy Respiratory arrest Spinal deformities Central sleep apnea EEG with polyspike wave complexes Sudden episodic apnea Bulbar palsy Nasal regurgitation Apneic episodes precipitated by illness, fatigue, stress Choking episodes Narrow jaw Intermittent episodes of respiratory insufficiency due to muscle weakness Frontalis muscle weakness Episodic respiratory distress EMG: impaired neuromuscular transmission Acetylcholine receptor antibody positivity Meningitis C8 deficiency Recurrent Neisserial infections Immunodeficiency Recurrent mycobacterial infections Spinal rigidity Toe walking Polyclonal elevation of IgM Long face Intellectual disability Low-set ears High palate Dysphagia Areflexia Polyhydramnios Gastroesophageal reflux Kyphoscoliosis Difficulty walking Proximal muscle weakness Periodic paralysis Pectus carinatum Arthrogryposis multiplex congenita Ophthalmoplegia Distal amyotrophy Stridor Generalized muscle weakness Esotropia Waddling gait Cyanosis Decreased fetal movement Diplopia Congenital hip dislocation Microretrognathia EMG: myopathic abnormalities Poor head control Easy fatigability Dysphonia Poor suck Nasal speech Abnormality of muscle fibers Hypokalemia Urinary retention Gait disturbance Autoimmune antibody positivity Limb joint contracture Pancreatic hypoplasia Beta-cell dysfunction Transient neonatal diabetes mellitus Thickened ears Elevated hemoglobin A1c Clinodactyly of the 4th finger Muscular hypotonia Spasticity Cognitive impairment Visual impairment Optic atrophy Hydrocephalus Aspiration pneumonia Blindness Hypertonia Behavioral abnormality Dilatation Abnormality of metabolism/homeostasis Reduced visual acuity Rigidity Mental deterioration Developmental regression Irritability Protruding ear Abnormality of the cerebral white matter Mild global developmental delay Ketoacidosis Sensory neuropathy Confusion Hemolytic anemia Leukopenia Abnormal erythrocyte morphology Flexion contracture Intrauterine growth retardation Anteverted nares Short nose Long philtrum Clinodactyly Pneumonia Diabetes mellitus Abnormality of the nervous system Small for gestational age Downturned corners of mouth Prominent metopic ridge Dehydration Hypsarrhythmia Progressive neurologic deterioration Aspiration Type I diabetes mellitus Failure to thrive in infancy Bilateral ptosis Polydipsia Radial deviation of finger Hyperglycemia Polyuria Abnormality of the ear Abnormality of the immune system Falls Neurodegeneration Abnormality of peripheral nerve conduction Palpitations Abnormal nerve conduction velocity Decerebrate rigidity Unexplained fevers Abnormal flash visual evoked potentials Hypertension Obesity Constipation Hyperhidrosis Paralysis Lower limb muscle weakness Tachycardia Muscle cramps Tetraplegia Muscle stiffness Aplasia/Hypoplasia of the abdominal wall musculature Goiter Thrombocytopenia Ophthalmoparesis Myotonia Ventricular fibrillation Hyperkalemia Mildly elevated creatine phosphokinase Prolonged QT interval Hyperthyroidism Rhabdomyolysis Hypomagnesemia Heat intolerance Graves disease CNS demyelination Cloverleaf skull Generalized myoclonic seizures CNS hypomyelination Brain atrophy Peripheral demyelination Optic disc pallor Tetraparesis Frequent falls Progressive muscle weakness Clonus Leukodystrophy Sensorimotor neuropathy Horizontal nystagmus Paraparesis Spastic paraparesis Spastic tetraparesis Decreased nerve conduction velocity Demyelinating peripheral neuropathy Hemiplegia Postural tremor Hemiplegia/hemiparesis Global brain atrophy Opisthotonus Progressive spasticity Ankle clonus Hyperactive deep tendon reflexes Episodic fever Autoimmune thrombocytopenia Increased CSF protein Diffuse cerebral atrophy Motor deterioration Abnormality of the thumb Angioedema



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