3308
(4.0%)

Citrullinemia type II

Psychosis

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.

3308
(4.0%)

Propionic acidemia

Dementia

Autosomal recessive inheritance

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.

3308
(4.0%)

Atypical hemolytic uremic syndrome

Renal insufficiency

A rare thrombotic microangiopathy disorder characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.

3308
(4.0%)

Non-functioning pituitary adenoma

Male hypogonadism

3308
(4.0%)

Leigh syndrome with cardiomyopathy

Abnormal renal tubule morphology

3308
(4.0%)

Ovarian hyperstimulation syndrome

Nephritis

Autosomal dominant inheritance

3308
(4.0%)

Multiple endocrine neoplasia type 1

Impotence

Autosomal dominant inheritance

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.

3308
(4.0%)

Sheehan syndrome

Polyuria

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.

3308
(4.0%)

Serotonin syndrome

Blurred vision

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).