Autoimmunity, and Syncope

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

• Pain
• Fever
• Recurrent infections
• Arthralgia
• Erythema

SOURCES: OMIM ORPHANET MENDELIAN

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

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

SOURCES: OMIM MENDELIAN

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.

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

SOURCES: OMIM ORPHANET MENDELIAN

Low match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2

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

SOURCES: MESH OMIM MENDELIAN

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

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

SOURCES: ORPHANET MENDELIAN

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 gÉlineau disease|narcoleptic syndrome 1|narcolepsy-cataplexy

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

SOURCES: ORPHANET OMIM MENDELIAN

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

• Cognitive impairment
• Dysarthria
• Depressivity
• Pneumonia
• Dementia

SOURCES: ORPHANET OMIM MENDELIAN

Low match CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1

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

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

SOURCES: MESH OMIM MENDELIAN

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 ).

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

SOURCES: OMIM MENDELIAN

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 ).

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

SOURCES: OMIM MESH MENDELIAN