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.
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
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SOURCES: OMIM ORPHANET MENDELIAN
More info about PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATIONNeurohypophyseal 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
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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:
SOURCES: OMIM ORPHANET MENDELIAN
More info about SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
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
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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 gÉlineau disease|narcoleptic syndrome 1|narcolepsy-cataplexy
Related symptoms:
SOURCES: ORPHANET OMIM MENDELIAN
More info about NARCOLEPSY TYPE 1Dementia 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
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SOURCES: ORPHANET OMIM MENDELIAN
More info about DEMENTIA, LEWY BODY; DLBCARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 Is also known as rcm
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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 ).
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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:
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 |
Patients with Autoimmunity and Syncope. may also develop some of the following symptoms:
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