3308
(4.0%)

Citrullinemia type II

精神病

A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.  >> 翻訳 (Google)

3308
(4.0%)

Propionic acidemia
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プロピオン酸血症

認知症

常染色体劣性遺伝

Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.  >> 翻訳 (Google)

3308
(4.0%)

Atypical hemolytic uremic syndrome
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非典型溶血性尿毒症症候群

腎不全

A rare thrombotic microangiopathy disorder characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.  >> 翻訳 (Google)

3308
(4.0%)

Non-functioning pituitary adenoma

男性性腺機能低下症

3308
(4.0%)

Leigh syndrome with cardiomyopathy

腎尿細管異常

3308
(4.0%)

Ovarian hyperstimulation syndrome
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卵巣過剰刺激症候群

腎炎

常染色体優性遺伝

3308
(4.0%)

Multiple endocrine neoplasia type 1
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多発性内分泌腫瘍症1型

インポテンス

常染色体優性遺伝

Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN (see this term), a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.  >> 翻訳 (Google)

3308
(4.0%)

Sheehan syndrome
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シーハン症候群

多尿

Sheehan syndrome is a rare, acquired, pituitary hormone deficiency disorder resulting from pituitary necrosis following peri- or postpartum hemorrhage characterized by various symptoms depending on resulting hormone decrease (e.g. failure or difficulty with lactation, oligo- or amenorrhea, hot flashes, decreased libido, weakness, fatigue, anorexia, nausea, vomiting, hypoglycemia, hyponatremia, dizziness, decreased muscle mass, adrenal crisis). Secondary hypothyroidism and secondary adrenal insufficiency may also be presenting signs.  >> 翻訳 (Google)

3308
(4.0%)

Serotonin syndrome
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セロトニン症候群

視力障害(霧視、かすみ目)

Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).  >> 翻訳 (Google)