Diko : en:recessive inheritance is rare

en:recessive inheritance is rare

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50+

rétinite pigmentaire liée au sexe récessive 3

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en:average age at diagnosis 17.8 years (range 2-35 years)

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en:contractures other than plantar are less common and less severe

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en:caused by inheritance of the mutation on the paternal allele (imprinting)

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en:autosomal recessive inheritance with earlier onset has been reported in 3 patients

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en:death in majority of infants soon after birth

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en:approximately 70-80% of cases are de novo and sporadic

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en:coloboma is associated with larger microdeletion (490kb) of 11q13

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en:childhood onset

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en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty

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en:death from pneumonia

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en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood

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en:childhood or adolescent onset (usually less than 25 years)

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en:boys are more often affected than girls (3:2)

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en:age of onset/diagnosis 12-35 years

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en:death in perinatal period

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en:death before age 40

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en:both autosomal dominant and autosomal recessive inheritance has been described

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en:death in third or fourth decades, usually due to respiratory infection

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en:diarrhea worsens in parallel with increases in severity of skin disease

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en:discordant phenotype among monozygotic twins has been reported

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en:dwarfism not detectable at birth

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en:color vision defects may not be part of the phenotype

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en:associated with hemodialysis

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en:clinical presentation varies from asymptomatic to fulminant course

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en:death in infancy secondary to respiratory insufficiency/pneumonia

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en:death may occur in infancy

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en:death in infancy in 2 patients

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en:deafness tends to occur before other neurologic signs, except in patients with very early onset

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en:clinical and biochemical abnormalities disappear with age

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en:congenital onset

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en:diurnal fluctuation

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en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise

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en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood)

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en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years)

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en:adult onset has been reported

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en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900)

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en:all features are unilateral

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en:associated with increased frequency of autoimmune diseases

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en:associated with smoking

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en:adult onset (20 to 50 years)

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en:anemia is responsive to corticosteroid treatment

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en:a milder form has also been reported

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en:autosomal recessive form (277720) has also been described

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en:autosomal recessive disorder tends to be more severe

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en:may be triggered by minor head trauma

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en:may occur in adults (also in pregnancy)

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en:approximately 50% of patients have situs inversus

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en:age at onset from 3 to 51 years (mean 19.2 years)

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en:all cases sporadic (18 males, 7 females)

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50+

rétinite pigmentaire d'apparition tardive

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en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features

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en:mean age at onset of migraines is 42 years

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en:death from pneumonia

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en:late-adult onset

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en:increased risk of myeloproliferative disorders in those with somatic mutations

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en:interfamilial and intrafamilial clinical heterogeneity

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en:internal organ rupture may occur

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en:lifetime risk of breast cancer in mutation carriers is 60 to 85%

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en:mean age of onset 31 years (range 5-60)

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en:incidence of 1 in 3,500 boys

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en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene

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en:genetic heterogeneity (see 116800 for summary)

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en:familial occurrence is rare

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en:contractures other than plantar are less common and less severe

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en:may be progressive

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létal

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en:weakness during pregnancy in some affected females has been reported

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en:high recurrence rate

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en:based on report of 2 sibs in 2008

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en:death secondary to respiratory infection or failure before age 2 years

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en:adrenal insufficiency usually develops later (first decade)

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en:few familial (parent offspring) cases reported

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en:retinitis pigmentosa

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en:onset of overgrowth in the first year of life (in most cases)

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en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder

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en:lethal

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en:mean age of onset 20.6 years

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en:itch, pain, and body malodor often

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en:male predominance of 3:1 to 5:1

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en:female carriers may show intermittent hematuria

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en:lower limb involvement occurs before upper limb involvement

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en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance

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en:age at onset 8 to 55 years (mean 40 years)

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en:all cases sporadic (18 males, 7 females)

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en:majority of children die between 6 months and 5 yrs

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en:liver size returns to normal after 3 months to 3 years

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en:age of onset between 5 and 10 years of age

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en:incidence of 1 in 1.5 million births

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en:in the absence of hydrops, death occurs within 3 months

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en:immunologic defects are variable

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en:highly variable phenotype, some adults may be asymptomatic

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en:in general, men have more severe disease than women

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en:intermediate expression in females

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en:juvenile rigid early-onset form more often paternally inherited

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en:in severe attacks, hemiplegia or coma may last days to weeks

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en:increased risk of early death

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en:incomplete penetrance with 45 to 51 repeats

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en:heterozygous females more mildly affected than hemizygous males

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en:late-adult onset (fifth to sixth decade)

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• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9090951 • caches: c1=12 c2=197 c3=843

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