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Results: 7

1.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
2.

Minirin

MedGen UID:
432291
Concept ID:
C2603382
Pharmacologic Substance
3.

Nocutil

MedGen UID:
354503
Concept ID:
C1720760
Pharmacologic Substance
4.

Apo-Desmopressin

MedGen UID:
318563
Concept ID:
C1720759
Pharmacologic Substance
5.

Desmogalen

MedGen UID:
299027
Concept ID:
C1578463
Pharmacologic Substance
6.

MedGen UID:
147221
Concept ID:
C0701197
7.

Properdin deficiency, X-linked

Properdin (factor P) is a plasma protein that is active in the alternative complement pathway of the innate immune system. It is a positive regulatory factor that binds to many microbial surfaces to stabilize the C3b,Bb convertase. Deficiency of properdin is associated in particular with a heightened susceptibility to Neisseria species (Janeway et al., 2001). [from OMIM]

MedGen UID:
333322
Concept ID:
C1839454
Disease or Syndrome

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