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Items: 12

1.

HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB32

MedGen UID:
864294
Concept ID:
C4015857
Finding
2.

APOB POLYMORPHISM IN SIGNAL PEPTIDE

MedGen UID:
864293
Concept ID:
C4015856
Finding
3.

HYPERCHOLESTEROLEMIA DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B100

MedGen UID:
864292
Concept ID:
C4015855
Finding
4.

HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB31

MedGen UID:
864291
Concept ID:
C4015854
Finding
5.

HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB87

MedGen UID:
864290
Concept ID:
C4015853
Finding
6.

HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB46

MedGen UID:
864289
Concept ID:
C4015852
Finding
7.

HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB90 OR APOB89

MedGen UID:
864288
Concept ID:
C4015851
Finding
8.

HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB40

MedGen UID:
864287
Concept ID:
C4015850
Finding
9.

HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB39

MedGen UID:
864286
Concept ID:
C4015849
Finding
10.

LDLCQ4

MedGen UID:
354786
Concept ID:
C1862595
Finding
11.

Familial hypobetalipoproteinemia

Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ability to absorb and transport fats. This condition is characterized by low levels of a fat-like substance called cholesterol in the blood. The severity of signs and symptoms experienced by people with FHBL vary widely. The most mildly affected individuals have few problems with absorbing fats from the diet and no related signs and symptoms. Many individuals with FHBL develop an abnormal buildup of fats in the liver called hepatic steatosis or fatty liver. In more severely affected individuals, fatty liver may progress to chronic liver disease (cirrhosis). Individuals with severe FHBL have greater difficulty absorbing fats as well as fat-soluble vitamins such as vitamin E and vitamin A. This difficulty in fat absorption leads to excess fat in the feces (steatorrhea). In childhood, these digestive problems can result in an inability to grow or gain weight at the expected rate (failure to thrive). [from GTR]

MedGen UID:
349549
Concept ID:
C1862596
Disease or Syndrome
12.

Abetalipoproteinaemia

Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; 615558) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014). [from GTR]

MedGen UID:
1253
Concept ID:
C0000744
Disease or Syndrome
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