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Items: 8

1.

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 OMIM]

MedGen UID:
1253
Concept ID:
C0000744
Disease or Syndrome
2.

Abetalipoproteinemia

MedGen UID:
368457
Concept ID:
C1963709
Finding
3.

Retinal degeneration

A deterioration of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. [from HPO]

MedGen UID:
504488
Concept ID:
CN000512
Finding
4.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
5.

Malabsorption

MedGen UID:
368423
Concept ID:
C1963165
Finding
6.

Hypobetalipoproteinemia

An decreased concentration of low-density lipoprotein cholesterol in the blood. [from HPO]

MedGen UID:
6978
Concept ID:
C0020597
Disease or Syndrome
7.

Hypobetalipoproteinemia

An decreased concentration of low-density lipoprotein cholesterol in the blood. [from HPO]

MedGen UID:
776554
Concept ID:
C0853085
Finding
8.

Acanthocytosis

MedGen UID:
350717
Concept ID:
C1862626
Finding
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