3308
(4.0%)

Fructose-1,6-bisphosphatase deficiency

Irritability

Autosomal recessive inheritance

Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.

3308
(4.0%)

Wells syndrome

Jaundice

Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia.

3308
(4.0%)

Neuroendocrine tumor of stomach

Dermatological manifestations of systemic disorders

Gastric neuroendocrine tumor is a rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported.

3308
(4.0%)

Acute fatty liver of pregnancy

Polyuria

A rare, severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.

3308
(4.0%)

Plasma cell leukemia

Renal insufficiency

3308
(4.0%)

Adenohypophysitis

Amenorrhea

A rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of anterior pituitary. Clinical presentation is variable and includes headaches, visual disturbances, symptoms of adrenal insufficiency, hyperprolactinemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period.

3308
(4.0%)

Manganese poisoning

Visual impairment

3308
(4.0%)

Niemann-Pick disease type C

Vertical supranuclear gaze palsy

Niemann-Pick disease type C (NP-C) is a lysosomal lipid storage disease (see this term) characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis, isolated unexplained splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders.

3308
(4.0%)

Lafora disease

Blindness

Autosomal recessive inheritance Heterogeneous

Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.

3308
(4.0%)

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Retinopathy

Autosomal recessive inheritance

A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy.