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Items: 3

1.

Hypermanganesemia with dystonia, polycythemia, and cirrhosis

Hypermanganesemia with dystonia 1 (HMNDYT1) is characterized by the following: A movement disorder resulting from manganese accumulation in the basal ganglia. Whole-blood manganese concentrations that often exceed 2000 nmol/L (normal: <320 nmol/L). Polycythemia. Hepatomegaly with variable hepatic fibrosis/cirrhosis. Neurologic findings can manifest in childhood (ages 2-15 years) as four-limb dystonia, leading to a characteristic high-stepping gait ("cock-walk gait"), dysarthria, fine tremor, and bradykinesia or on occasion spastic paraplegia; or in adulthood as parkinsonism (shuffling gait, rigidity, bradykinesia, hypomimia, and monotone speech) unresponsive to L-dopa treatment. [from GeneReviews]

MedGen UID:
412958
Concept ID:
C2750442
Disease or Syndrome
2.

Congenital bile acid synthesis defect 5

Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene. [from MONDO]

MedGen UID:
904751
Concept ID:
C4225390
Congenital Abnormality
3.

Increased total iron binding capacity

An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. [from HPO]

MedGen UID:
760319
Concept ID:
C0854060
Finding
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