Immunodeficiency, and Bradycardia

Diseases related with Immunodeficiency and Bradycardia

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

Top matches:

Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.

ALTERNATING HEMIPLEGIA OF CHILDHOOD Is also known as ahc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD

Medium match TIMOTHY SYNDROME

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes|generalized congenital lipodystrophy|gcl|brunzell syndrome|bscl|beradinelli-seip syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY

Other less relevant matches:

Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO IKK2 DEFICIENCY Is also known as scid due to ikk2 deficiency

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Pneumonia
  • Respiratory tract infection


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO IKK2 DEFICIENCY

Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by Yu et al., 2011).

IMMUNODEFICIENCY 19; IMD19 Is also known as scid, t cell-negative, b cell-positive, nk cell-positive|cd3-delta deficiency|severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive

Related symptoms:

  • Failure to thrive
  • Fever
  • Respiratory distress
  • Diarrhea
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 19; IMD19

Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

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

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) 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 IL12B DEFICIENCY Is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency|msmd due to complete interleukin 12b deficiency|msmd due to complete il12b deficiency|il12b deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY

Related symptoms:

  • Atrial septal defect
  • Atrial fibrillation
  • Bradycardia


SOURCES: OMIM MESH MENDELIAN

More info about ATRIAL SEPTAL DEFECT 6; ASD6

Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.

Related symptoms:

  • Hearing impairment
  • Syncope
  • Bradycardia
  • Vestibular dysfunction
  • Abnormal atrioventricular conduction


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINOATRIAL NODE DYSFUNCTION AND DEAFNESS

Top 5 symptoms//phenotypes associated to Immunodeficiency and Bradycardia

Symptoms // Phenotype % cases
Failure to thrive Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Cardiac arrest Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Immunodeficiency and Bradycardia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Intellectual disability Global developmental delay

Rare Symptoms - Less than 30% cases

Respiratory tract infection Short stature Depressed nasal bridge Arrhythmia Pneumonia Hypothyroidism Thin upper lip vermilion Hypoglycemia Hypertrophic cardiomyopathy Syncope Cardiomegaly Pulmonary arterial hypertension Lymphadenopathy Hepatitis Sepsis Severe combined immunodeficiency Muscle weakness Hepatomegaly Muscular hypotonia Diabetes mellitus Elevated hepatic transaminase Combined immunodeficiency Hepatic failure Chronic diarrhea Ventricular hypertrophy Hypertriglyceridemia Atrial fibrillation Seizures Cardiomyopathy Respiratory distress Muscle stiffness Dysphagia Hearing impairment Esotropia Cognitive impairment Hyperhidrosis Exercise-induced myalgia Bone cyst Arterial stenosis Generalized lipodystrophy Prolonged QTc interval Loss of subcutaneous adipose tissue in limbs Dysmenorrhea Atlantoaxial dislocation Abnormal oral cavity morphology Congenital generalized lipodystrophy Abnormal levels of creatine kinase in blood Broad foot Abnormality of skeletal muscle fiber size Fatigue Optic atrophy Decreased antibody level in blood Pain Meningitis Osteomyelitis Sensorineural hearing impairment Nystagmus Agammaglobulinemia Hypoplasia of the thymus Prominent superficial veins Growth hormone excess Oligomenorrhea Pyloric stenosis Myocardial infarction Palpitations Thickened skin Insulin resistance Abnormality of the hair Generalized hirsutism Accelerated skeletal maturation Pancreatitis Acanthosis nigricans Atherosclerosis Polycystic ovaries Prominent supraorbital ridges Progressive proximal muscle weakness Precocious puberty Hyperinsulinemia Lipodystrophy Large hands Skeletal muscle hypertrophy Lipoatrophy Spinal rigidity Glomerulopathy Secondary amenorrhea IgA deficiency Recurrent respiratory infections Fever Abnormal autonomic nervous system physiology Tachycardia Malnutrition Hemolytic anemia Eczema Nephrotic syndrome Inflammatory abnormality of the skin Type I diabetes mellitus Abnormal intestine morphology Eosinophilia Nephritis Erythroderma Hyperglycemia Abnormality of the coagulation cascade Abnormality of the thyroid gland Arthritis Autoimmune hemolytic anemia Thyroiditis Ketoacidosis Villous atrophy Immune dysregulation Ileus Pancreatic hypoplasia Intractable diarrhea Secretory diarrhea Atrial septal defect Vestibular dysfunction Abnormal atrioventricular conduction Autoimmunity Thrombocytopenia Ataxia Thin vermilion border Dystonia Lymphopenia Tachypnea Motor delay Intellectual disability, mild Midface retrusion Elevated serum creatine phosphokinase Hepatosplenomegaly Deeply set eye Peripheral axonal neuropathy Lactic acidosis Distal amyotrophy Intrauterine growth retardation Broad nasal tip Full cheeks Left ventricular hypertrophy Hepatic fibrosis Exercise intolerance Hyperlipidemia Neurodevelopmental delay Abnormality of lipid metabolism Increased muscle fatiguability Sinus tachycardia Increased hepatic glycogen content Anemia Recurrent otitis media Recurrent fractures Epidermal acanthosis Carious teeth Constipation Hemiparesis Prominent forehead Autism Status epilepticus Gastroesophageal reflux Migraine Chorea Autistic behavior Abnormal cardiac septum morphology Hip dislocation Toe syndactyly Choreoathetosis Joint hypermobility Coma Hypoplasia of the maxilla Sudden cardiac death Parkinsonism Round face Microdontia Tetralogy of Fallot Tetraplegia Abnormality of eye movement Abnormality of the face Hypoplasia of dental enamel Abnormal heart morphology Patent ductus arteriosus Generalized tonic-clonic seizures Generalized hypotonia Hemiplegia Stridor Impulsivity Oral-pharyngeal dysphagia Anhidrosis Wheezing Facial paralysis Abnormality of the mitochondrion Bronchospasm Episodic quadriplegia Episodic hemiplegia Hypertelorism Encephalopathy Abnormal facial shape Low-set ears Exotropia Wide nasal bridge Myopia Ventricular septal defect Involuntary movements Abnormality of the dentition Behavioral abnormality Syndactyly Abnormality of cardiovascular system morphology Depressivity Sinusitis Hypocalcemia Growth hormone deficiency Pes cavus Mental deterioration Abnormality of the eye Flexion contracture Peripheral neuropathy Dyspnea Ventriculomegaly Congestive heart failure Splenomegaly Renal insufficiency Delayed skeletal maturation Osteoporosis Mandibular prognathia Scoliosis Osteopenia Areflexia Myalgia Hyperlordosis Abnormality of the foot Abnormality of skin pigmentation Cirrhosis Headache Hirsutism Nephropathy Hepatic steatosis Slurred speech Developmental regression Paralysis Abnormality of dental enamel Mixed hearing impairment Ventricular tachycardia Cutaneous syndactyly Ventricular arrhythmia Optic nerve hypoplasia Atrioventricular block Patent foramen ovale Obsessive-compulsive behavior Ventricular fibrillation 2-3 toe syndactyly Multiple joint contractures Prolonged QT interval Bronchitis Abnormal direction of ventricular apex Cutaneous finger syndactyly Protruding tongue Amelogenesis imperfecta Hypothermia Perimembranous ventricular septal defect Torsade de pointes Cutaneous syndactyly of toes Biventricular hypertrophy Frontal balding Abnormality of dental color T-wave alternans Atrioventricular dissociation Abnormal electrophysiology of sinoatrial node origin


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