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.
Orphanet:247585
Find images (Google)
Find case reports
Monarch
GTR:C1863844
|
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.
Orphanet:35
Find images (Google)
Find case reports
Monarch
KEGG:H00175
Gene Reviews
GTR:C0268579
GTR:C0311298
GTR:C2717876
|
3308 (4.0%)
|
Atypical hemolytic uremic syndrome
|
Renal insufficiency
A rare thrombotic microangiopathy disorder characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.
Orphanet:2134
Find images (Google)
Find case reports
Monarch
GTR:C2931788
|
3308 (4.0%)
|
Non-functioning pituitary adenoma
|
Male hypogonadism
Orphanet:91349
Find images (Google)
Find case reports
Monarch
GTR:C0338078
|
3308 (4.0%)
|
Leigh syndrome with cardiomyopathy
|
Abnormal renal tubule morphology
Orphanet:70474
Find images (Google)
Find case reports
Monarch
|
3308 (4.0%)
|
Ovarian hyperstimulation syndrome
|
Nephritis
Autosomal dominant inheritance
Orphanet:64739
Find images (Google)
Find case reports
Monarch
KEGG:H01039
GTR:C0085083
|
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.
Orphanet:652
Find images (Google)
Find case reports
Monarch
KEGG:H00247
KEGG:H01522
Gene Reviews
GTR:C0025267
|
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.
Orphanet:91355
Find images (Google)
Find case reports
Monarch
GTR:C0242342
|
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).
Orphanet:43116
Find images (Google)
Find case reports
Monarch
GTR:C0699828
|