Familial melanoma in short Prevalence: Unknown Inheritance: Autosomal dominant, Multigenic/multifactorial Age of onset: Adult Epidemiology What are the symptoms of Familial melanoma? Very frequent symptoms Frequent symptoms Occasional symptoms Clinical description Etiology Diagnostic methods Differential diagnosis Key differential diagnoses include Genetic counseling Management and treatment Prognosis
Familial joint laxity in short Synonyms: Prevalence: Unknown Inheritance: Autosomal dominant Age of onset: Adolescent, Childhood, Infancy What are the symptoms of Familial joint laxity? Very Frequent Symptoms Frequent Symptoms Occasional Symptoms
Familial isolated vitamin E deficiency Disease definition Synonym(s): Prevalence: 1-9 / 1 000 000 Inheritance: Autosomal recessive Age of onset: All ages Epidemiology The worldwide incidence remains uncertain, though demographic research suggests an approximate rate of 1/300,000. In North African regions, AVED ranks as the second most common inherited cerebellar ataxia. The higher occurrence of AVED in regions …
Familial cold urticaria in short Epidemiology Clinical description What are the symptoms of Familial cold urticaria? Very Frequent Symptoms Frequent Symptoms Occasional Symptoms Etiology – What causes Familial cold urticaria? Genetic counseling
Familial cerebral cavernous malformation Epidemiology The total prevalence of CCMs is estimated between 1/200 and 1/1,000 people. Familial cerebral cavernous malformation (FCCM), representing approximately 20% of all CCM cases, has an estimated occurrence rate of 1/5,000 – 1/10,000, making it uncommon compared to the more frequent sporadic CCMs. Hispanic-American CCM families demonstrate a notable founder …
ITM2B amyloidosis in short Synonyms How common is this condition? Prevalence: <1 / 1 000 000 Inheritance Age of onset What are the symptoms of ITM2B amyloidosis?
ITK deficiency in short Synonyms Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Adolescent, Childhood