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Dictionary » Hdl deficiency, familial
 

Hdl deficiency, familial

Introduction: Hdl deficiency, familial

Description of Hdl deficiency, familial

Hdl deficiency, familial (medical condition): A rare genetic disorder characterized by a...more »

See also:

Familial HDL deficiency:
  »Introduction: Familial HDL deficiency
  »Symptoms of Familial HDL deficiency

Hdl deficiency, familial: A rare autosomal recessive familial disorder of cholesterol metabolism, characterized by extremely low HDL-cholesterol, reduced total cholesterol, and increased triglyceride levels in serum. Clinical features include the onset before age 20 years of HEPATOMEGALY; SPLENOMEGALY; the deposition of cholesterol in each TONSIL (creating a yellow-orange appearance); and RETINITIS PIGMENTOSA. A sensorimotor or distal sensory POLYNEUROPATHY occurs in approximately 50% of affected individuals. The condition is associated with decreased synthesis and increased catabolism of APOLIPOPROTEIN A-I and APOLIPOPROTEIN A-II, and a defect in cellular signaling and mobilization of lipids. (From Nat Genet 1998 Sep;20(1):96-8; Adams et al., Principles of Neurology, 6th ed, pp1347-8; Menkes, Textbook of Child Neurology, 5th ed, p118)
Source: Diseases Database

Hdl deficiency, familial: Related Topics

These medical condition or symptom topics may be relevant to medical information for Hdl deficiency, familial:

Hdl deficiency, familial as a Disease

Hdl deficiency, familial: Another name for Familial HDL deficiency (or close medical condition association).
  »Introduction: Familial HDL deficiency
  »Symptoms of Familial HDL deficiency

Hdl deficiency, familial: Related Diseases

Hdl deficiency, familial: Hdl deficiency, familial is listed as a type of (or associated with) the following medical conditions in our database:

Symptoms of Hdl deficiency, familial (Familial HDL deficiency)

Some of the symptoms of Hdl deficiency, familial incude:

Hdl deficiency, familial: Related Disease Topics

These medical disease topics may be related to Hdl deficiency, familial:

  • rare genetic disorder
  • high density lipoproteinds
  • autosomal recessive disorder
  • Hdl

Terms associated with Hdl deficiency, familial:

Terms Similar to Hdl deficiency, familial:

Source: Diseases Database

External links related to: Hdl deficiency, familial

Source: Diseases Database

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