Autoimmunity, and Syncope

Diseases related with Autoimmunity and Syncope

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


Top matches:

Low match PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION


PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.

PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION Is also known as facu|familial cold urticaria with common variable immunodeficiency|antibody deficiency and immune dysregulation, plcg2-associated|plaid|familial atypical cold urticaria

Related symptoms:

  • Pain
  • Fever
  • Recurrent infections
  • Arthralgia
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION

Low match DIABETES INSIPIDUS, NEUROHYPOPHYSEAL


Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Low match SINOATRIAL NODE DYSFUNCTION AND DEAFNESS


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

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Other less relevant matches:

Low match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2


Related symptoms:

  • Pain
  • Cardiomyopathy
  • Dyspnea
  • Hypertrophic cardiomyopathy
  • Chest pain


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2

Low match PROGRESSIVE SENSORINEURAL HEARING LOSS-HYPERTROPHIC CARDIOMYOPATHY SYNDROME


Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.

PROGRESSIVE SENSORINEURAL HEARING LOSS-HYPERTROPHIC CARDIOMYOPATHY SYNDROME Is also known as progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome|progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome|progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Dyspnea
  • Hypertrophic cardiomyopathy
  • Chest pain
  • Syncope


SOURCES: ORPHANET MENDELIAN

More info about PROGRESSIVE SENSORINEURAL HEARING LOSS-HYPERTROPHIC CARDIOMYOPATHY SYNDROME

Low match NARCOLEPSY TYPE 1


Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).

NARCOLEPSY TYPE 1 Is also known as g√Člineau disease|narcoleptic syndrome 1|narcolepsy-cataplexy

Related symptoms:

  • Neoplasm
  • Obesity
  • Hyperactivity
  • Abnormality of the eye
  • Paralysis


SOURCES: ORPHANET OMIM MENDELIAN

More info about NARCOLEPSY TYPE 1

Low match DEMENTIA, LEWY BODY; DLB


Dementia with Lewy bodies (DLB) is a neurodegenerative disorder clinically characterized by dementia and parkinsonism, often with fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Pathologically, Lewy bodies are present in a pattern more widespread than usually observed in Parkinson disease (see PD; {168600}). Alzheimer disease (AD )-associated pathology and spongiform changes may also be seen (McKeith et al., 1996; Mizutani, 2000; McKeith et al., 2005).

DEMENTIA, LEWY BODY; DLB Is also known as lewy body dementia|diffuse lewy body disease

Related symptoms:

  • Cognitive impairment
  • Dysarthria
  • Depressivity
  • Pneumonia
  • Dementia


SOURCES: ORPHANET OMIM MENDELIAN

More info about DEMENTIA, LEWY BODY; DLB

Low match CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1


CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 Is also known as rcm

Related symptoms:

  • Muscle weakness
  • Ventricular septal defect
  • Ventriculomegaly
  • Cardiomyopathy
  • Edema


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1

Low match BRUGADA SYNDROME 9; BRGDA9


Brugada syndrome is characterized by ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by Antzelevitch et al., 2005).For a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 (OMIM ).

Related symptoms:

  • Arrhythmia
  • Sudden cardiac death
  • Syncope
  • Palpitations
  • ST segment elevation


SOURCES: OMIM MENDELIAN

More info about BRUGADA SYNDROME 9; BRGDA9

Low match BRUGADA SYNDROME 4; BRGDA4


Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by Antzelevitch et al., 2005).For a discussion of the genetic heterogeneity in Brugada syndrome, see BRGDA1 (OMIM ).

Related symptoms:

  • Tachycardia
  • Sudden cardiac death
  • Syncope
  • Atrial fibrillation
  • Myocardial infarction


SOURCES: OMIM MESH MENDELIAN

More info about BRUGADA SYNDROME 4; BRGDA4

Top 5 symptoms//phenotypes associated to Autoimmunity and Syncope

Symptoms // Phenotype % cases
Gliosis Uncommon - Between 30% and 50% cases
Dyspnea Uncommon - Between 30% and 50% cases
Pain Rare - less than 30% cases
Abnormality of metabolism/homeostasis Rare - less than 30% cases
Left ventricular hypertrophy Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Cardiomyopathy Neoplasm Confusion Hallucinations Chest pain Sudden cardiac death Hypertrophic cardiomyopathy ST segment elevation Pneumonia Fever Neurofibrillary tangles Alzheimer disease Spastic paraparesis Paraparesis Muscle stiffness Delusions Apraxia Lewy bodies Visual hallucinations Supranuclear gaze palsy Loss of consciousness Memory impairment Bradykinesia Rigidity Sleep paralysis Hypnopompic hallucinations Cognitive impairment Dysarthria Depressivity Dementia Mental deterioration Neuronal loss in central nervous system Abnormal pyramidal sign Ophthalmoplegia Falls Dyskinesia Parkinsonism Vertical supranuclear gaze palsy Senile plaques Edema Fluctuations in consciousness Arrhythmia Abnormality of cardiovascular system physiology Histiocytoid cardiomyopathy Abnormal ventricular filling Abnormal cardiac atrium morphology Abnormality of the pulmonary veins Abnormal mitochondrial number Palpitations Abnormality of the mitochondrion Presyncope Tachycardia Atrial fibrillation Myocardial infarction Ventricular tachycardia Shortened QT interval Polymorphic ventricular tachycardia Abnormal left ventricle morphology Skeletal myopathy Muscle weakness Cardiomegaly Ventricular septal defect Ventriculomegaly Hypnagogic hallucinations Myopathy Dilatation Inability to walk Ascites Eosinophilia Endocardial fibroelastosis Atrioventricular block Heart murmur Myocardial fibrosis Restrictive cardiomyopathy Abnormal myocardium morphology Pulmonary edema Myofibrillar myopathy Paroxysmal drowsiness Brain neoplasm CNS infection Osteopenia Short nose Long philtrum Constipation Osteoporosis Diabetes mellitus Weight loss Irritability Fatigue Lethargy Dry skin Vertigo Wide nose Coma Growth hormone deficiency Vomiting Hypertelorism Dehydration Hashimoto thyroiditis Recurrent infections Arthralgia Erythema Pruritus Asthma Urticaria Vitiligo Growth delay Immune dysregulation Allergic rhinitis Chills Angioedema Cold urticaria Intellectual disability Seizures Hypotension Polydipsia Transient global amnesia Slurred speech Obesity Hyperactivity Abnormality of the eye Paralysis Sleep disturbance Abnormality of vision Atonic seizures Prolonged QT interval Drowsiness Hypersomnia Excessive daytime sleepiness Cataplexy Narcolepsy Abnormal rapid eye movement sleep Left bundle branch block Sensorineural hearing impairment Polyuria Nocturia Diabetes insipidus Orthostatic hypotension Enuresis Histiocytosis Central diabetes insipidus Pollakisuria Hypertonic dehydration Ventricular hypertrophy Abnormality of the anterior pituitary Germinoma Hearing impairment Bradycardia Vestibular dysfunction Abnormal atrioventricular conduction Abnormal electrophysiology of sinoatrial node origin Aborted sudden cardiac death



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Ascites, related diseases and genetic alterations

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