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Hypoalphalipoproteinemia, primary, 2, intermediate

MedGen UID:
1801755
Concept ID:
C5677030
Disease or Syndrome
Synonym: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT
 
Gene (location): APOA1 (11q23.3)
 
Monarch Initiative: MONDO:0859238
OMIM®: 619836

Definition

Intermediate primary alphalipoproteinemia-2 is an autosomal dominant condition characterized by half-normal plasma levels of apoA-I and HDL-C (Yamakawa-Kobayashi et al., 1999). Affected individuals may develop xanthomas and corneal opacities, but most do not have increased cardiovascular risk (summary by Rader and deGoma, 2012). For a discussion of genetic heterogeneity of hypoalphalipoproteinemia, see 604091. [from OMIM]

Clinical features

From HPO
Decreased HDL cholesterol concentration
MedGen UID:
57731
Concept ID:
C0151691
Finding
An decreased concentration of high-density lipoprotein cholesterol in the blood.
Decreased circulating apolipoprotein A-I concentration
MedGen UID:
1634454
Concept ID:
C4703545
Finding
Concentration of apolipoprotein A-I below the lower limit of normal. Apolipoprotein A-I is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease.

Recent clinical studies

Etiology

Edelstein C, Fredenrich C, Schuelke JC, Jensen WE, Sitrin M, Iverius PH, Scanu AM
Metabolism 1993 Feb;42(2):247-57. doi: 10.1016/0026-0495(93)90043-n. PMID: 8474323

Diagnosis

Mercan M, Yayla V, Altinay S, Seyhan S
J Peripher Nerv Syst 2018 Jun;23(2):88-98. Epub 2018 May 8 doi: 10.1111/jns.12265. PMID: 29582519
Wang S, Gulshan K, Brubaker G, Hazen SL, Smith JD
Arterioscler Thromb Vasc Biol 2013 Jun;33(6):1197-205. Epub 2013 Apr 4 doi: 10.1161/ATVBAHA.112.301195. PMID: 23559627Free PMC Article
Lin G, Oram JF
Atherosclerosis 2000 Apr;149(2):359-70. doi: 10.1016/s0021-9150(99)00503-1. PMID: 10729386
Murano S, Shirai K, Saito Y, Yoshida S, Ohta Y, Tsuchida H, Yamamoto S, Asano G, Chen CH, Albers JJ
Scand J Clin Lab Invest 1987 Dec;47(8):775-83. PMID: 3432999

Therapy

Edelstein C, Fredenrich C, Schuelke JC, Jensen WE, Sitrin M, Iverius PH, Scanu AM
Metabolism 1993 Feb;42(2):247-57. doi: 10.1016/0026-0495(93)90043-n. PMID: 8474323
Murano S, Shirai K, Saito Y, Yoshida S, Ohta Y, Tsuchida H, Yamamoto S, Asano G, Chen CH, Albers JJ
Scand J Clin Lab Invest 1987 Dec;47(8):775-83. PMID: 3432999

Clinical prediction guides

Murano S, Shirai K, Saito Y, Yoshida S, Ohta Y, Tsuchida H, Yamamoto S, Asano G, Chen CH, Albers JJ
Scand J Clin Lab Invest 1987 Dec;47(8):775-83. PMID: 3432999
Heinen RJ, Herbert PN, Fredrickson DS
J Clin Invest 1978 Jan;61(1):120-32. doi: 10.1172/JCI108910. PMID: 201668Free PMC Article

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