Autoimmunity, and Arrhythmia

Diseases related with Autoimmunity and Arrhythmia

In the following list you will find some of the most common rare diseases related to Autoimmunity and Arrhythmia 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 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 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

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Other less relevant matches:

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 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 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 Arrhythmia

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
Purpura Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


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

Rare Symptoms - Less than 30% cases


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



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