Autoimmunity, and Tachycardia

Diseases related with Autoimmunity and Tachycardia

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


Top matches:

Low match FAMILIAL GESTATIONAL HYPERTHYROIDISM


Some degree of stimulation of the thyroid gland by chorionic gonadotropin (see {118860}) is common during early pregnancy. When serum chorionic gonadotropin concentrations are abnormally high, e.g., in women with molar pregnancies (OMIM ), overt hyperthyroidism may ensue. The pathophysiologic mechanism appears to be promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin. The explanation for this stimulation is the close structural relations between chorionic gonadotropin and thyrotropin and between their receptors (Grossmann et al., 1997).

Related symptoms:

  • Motor delay
  • Tremor
  • Vomiting
  • Diarrhea
  • Hyperhidrosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL GESTATIONAL HYPERTHYROIDISM

Low match FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR


Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.

FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR Is also known as hyperthyroidism, nonautoimmune, autosomal dominant|toxic thyroid hyperplasia, autosomal dominant|familial non-immune hyperthyroidism|resistance to thyroid stimulating hormone|hyperthyroidism, congenital nonautoimmune

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Delayed speech and language development
  • Motor delay
  • Diarrhea


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR

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

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Other less relevant matches:

Low match HEREDITARY SPHEROCYTOSIS


Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

HEREDITARY SPHEROCYTOSIS Is also known as sph|hs|minkowski-chauffard disease|hs1|spherocytosis, hereditary, 1

Related symptoms:

  • Short stature
  • Anemia
  • Fatigue
  • Abnormality of the skeletal system
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SPHEROCYTOSIS

Low match RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE


RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.

RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE Is also known as alps4|rald|autoimmune lymphoproliferative syndrome, type iv

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE

Low match IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME


Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

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 FAMILIAL MEDITERRANEAN FEVER


Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

FAMILIAL MEDITERRANEAN FEVER Is also known as benign paroxysmal peritonitis|familial paroxysmal polyserositis|benign recurrent polyserositis|polyserositis, familial paroxysmal|fmf|periodic disease|familial mediterranean fever, autosomal recessive|polyserositis, recurrent

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE


Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE Is also known as sedaghatian chondrodysplasia|metaphyseal chondrodysplasia, congenital lethal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

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

Top 5 symptoms//phenotypes associated to Autoimmunity and Tachycardia

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Diarrhea Uncommon - Between 30% and 50% cases
Hemolytic anemia Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Hyperthyroidism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Headache Autoimmune hemolytic anemia Tremor Seizures Thyrotoxicosis with diffuse goiter Fever Graves disease Hyperkalemia Splenomegaly Goiter Skin rash Nausea Nausea and vomiting Proptosis Weight loss Arrhythmia Lymphadenopathy Purpura

Rare Symptoms - Less than 30% cases


Motor delay Nephrotic syndrome Vasculitis Pain Renal insufficiency Arthritis Hepatomegaly Fatigue Jaundice Erythema Hyperbilirubinemia Reticulocytosis Proteinuria Recurrent infections Hepatosplenomegaly Autoimmune thrombocytopenia Leukemia Abdominal pain Thyroiditis Palpitations Abnormality of the kidney Vomiting Hyperhidrosis Hyperactivity Sleep disturbance Agitation Hand tremor Autoimmune antibody positivity Thyroid hyperplasia Activating thyroid-stimulating hormone receptor defect Accelerated skeletal maturation Cardiac arrest Paralysis Hypertension Constipation Systemic lupus erythematosus Brachydactyly Orchitis Ascites Generalized hypotonia Nephropathy Stage 5 chronic kidney disease Muscular hypotonia Malabsorption Chronic kidney disease Depressed nasal bridge Pericarditis Talipes equinovarus Myalgia Chest pain Rheumatoid arthritis Short neck Arthralgia Leukocytosis Intestinal obstruction Respiratory insufficiency Atrial septal defect Inflammation of the large intestine Elevated erythrocyte sedimentation rate Asthma Episodic fever Stiff neck Increased serum ferritin Gout Antinuclear antibody positivity Edema of the lower limbs Acute hepatic failure Oral leukoplakia Anemia of inadequate production Peritonitis Decreased circulating aldosterone level Synovitis Pleuritis Recurrent meningitis Pancreatitis Congenital hypoplastic anemia Erysipelas Gastrointestinal infarctions Nephrocalcinosis Meningitis Amyloidosis Azotemia Osteoarthritis Myocardial infarction Serositis Renal amyloidosis Short metacarpal Delayed skeletal maturation Third degree atrioventricular block Delayed epiphyseal ossification Hyperphosphatemia Flat acetabular roof Hypoplastic iliac wing Myocarditis 11 pairs of ribs Flared iliac wings Spondylometaphyseal dysplasia Metaphyseal chondrodysplasia Metaphyseal cupping Porencephalic cyst Coronal cleft vertebrae Narrow greater sacrosciatic notches Cupped ribs Cardiorespiratory arrest Pulmonary hemorrhage Long fibula Myocardial necrosis Large posterior fontanelle Abnormality of the scapula Rhizomelic arm shortening Cone-shaped metacarpal epiphyses Iliac crest serration Focal lissencephaly Widened sacrosciatic notch Irregular tarsal bones Horizontal inferior border of scapula 11 thoracic vertebrae Leukopenia Cone-shaped epiphyses of the phalanges of the hand Heart block Cerebellar hypoplasia Short toe Agenesis of corpus callosum Posteriorly rotated ears Respiratory failure Apnea Platyspondyly Narrow chest Short palm Schistocytosis Limb undergrowth Abnormality of the ribs Pachygyria Short phalanx of finger Rhizomelia Short ribs Turricephaly Hypocalcemia Lissencephaly Short long bone Atrioventricular block Poor suck Redundant skin Cone-shaped epiphysis Metaphyseal irregularity Abnormality of neuronal migration Thoracic hypoplasia Cortical gyral simplification Short finger Disproportionate short stature Metaphyseal dysplasia Acidosis Intractable diarrhea Microangiopathic hemolytic anemia Late-onset proximal muscle weakness Heat intolerance Abnormality of peripheral nerve conduction Urinary retention Periodic paralysis Abnormality of muscle fibers Postprandial hyperglycemia Impaired myocardial contractility Shortened PR interval Increased intramyocellular lipid droplets Periodic hypokalemic paresis Exercise-induced muscle fatigue Respiratory paralysis Hashimoto thyroiditis Episodic flaccid weakness Second degree atrioventricular block Episodic hypokalemia Decreased urinary potassium Transient hypophosphatemia Thyrotoxicosis with toxic single thyroid nodule Thyrotoxicosis with toxic multinodular goitre Short stature Abnormality of the skeletal system Cardiomyopathy Hypertrophic cardiomyopathy Delayed puberty Hypomagnesemia Rhabdomyolysis Spherocytosis Muscle weakness Spontaneous abortion Hyperemesis gravidarum Intellectual disability Global developmental delay Delayed speech and language development Abnormality of metabolism/homeostasis Small for gestational age Premature birth Tachypnea Abnormal eye morphology Eyelid retraction Pretibial myxedema Hyperreflexia Prolonged QT interval Obesity Hyporeflexia Lower limb muscle weakness Muscle cramps Tetraplegia Muscle stiffness EMG abnormality Hypokalemia Ophthalmoparesis Myotonia Ventricular fibrillation Mildly elevated creatine phosphokinase Cholelithiasis Elliptocytosis Increased blood urea nitrogen Abnormal bleeding Abnormality of the thyroid gland Ketoacidosis Villous atrophy Immune dysregulation Ileus Pancreatic hypoplasia Secretory diarrhea Respiratory distress Pallor Confusion Hematuria Coma Increased serum lactate Abnormality of the coagulation cascade Hemiparesis Glomerulonephritis Personality changes Prolonged neonatal jaundice Acute kidney injury Microscopic hematuria Elevated serum creatinine Preeclampsia Abnormal renal physiology Hemolytic-uremic syndrome Neonatal hyperbilirubinemia Bloody diarrhea Malnutrition Hyperglycemia Erythroid hypoplasia Growth delay Recurrent respiratory infections Respiratory tract infection Neutropenia Lymphoma Pancytopenia Recurrent upper respiratory tract infections Increased antibody level in blood Lymphoproliferative disorder Lymphocytosis Follicular hyperplasia Monocytosis Decreased lymphocyte apoptosis Failure to thrive Erythroderma Intrauterine growth retardation Immunodeficiency Diabetes mellitus Hypothyroidism Sepsis Eczema Hepatitis Inflammatory abnormality of the skin Type I diabetes mellitus Abnormal intestine morphology Eosinophilia Nephritis Abnormal erythrocyte morphology



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