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Analbuminemia(ANALBA)

MedGen UID:
164210
Concept ID:
C0878666
Finding
Synonyms: ANALBA; Analbuminemia, American Indian type; Analbuminemia, Vancouver
SNOMED CT: Analbuminemia (129232009)
 
Gene (location): ALB (4q13.3)
 
OMIM®: 616000

Definition

Analbuminemia (ANALBA) is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. Affected individuals have few clinical symptoms other than mild edema, hypotension, fatigue, and occasionally a peculiar lower body lipodystrophy (mainly in adult females). The most common biochemical finding is a gross hyperlipidemia, with a significant increase in the total and LDL cholesterol concentrations, but normal concentrations of HDL cholesterol and triglycerides. Analbuminemia often leads to fetal or neonatal death in sibs in families of analbuminemic individuals, which may explain the rarity of the trait (summary by Caridi et al., 2014). [from OMIM]

Clinical features

From HPO
Fatigue
MedGen UID:
41971
Concept ID:
C0015672
Sign or Symptom
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Hypotension
MedGen UID:
5715
Concept ID:
C0020649
Finding
Low Blood Pressure, vascular hypotension.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Lipodystrophy
MedGen UID:
6111
Concept ID:
C0023787
Disease or Syndrome
Degenerative changes of the fat tissue.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Recurrent lower respiratory tract infections
MedGen UID:
756211
Concept ID:
C3163798
Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Edema
MedGen UID:
4451
Concept ID:
C0013604
Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Hypercholesterolemia
MedGen UID:
5687
Concept ID:
C0020443
Disease or Syndrome
An increased concentration of cholesterol in the blood.
Hypoalbuminemia
MedGen UID:
68694
Concept ID:
C0239981
Finding
Reduction in the concentration of albumin in the blood.
Increased LDL cholesterol concentration
MedGen UID:
154289
Concept ID:
C0549399
Finding
An elevated concentration of low-density lipoprotein cholesterol in the blood.
Elevated circulating transferrin concentration
MedGen UID:
1694284
Concept ID:
C5139309
Finding
An abnormally increased concentration of transferrin in the blood circulation.
Oligohydramnios
MedGen UID:
86974
Concept ID:
C0079924
Pathologic Function
Diminished amniotic fluid volume in pregnancy.

Term Hierarchy

Recent clinical studies

Etiology

Staps P, Hogeveen M, Fuijkschot J, van Drongelen J, Willemsen MAAP
J Perinat Med 2018 Jul 26;46(5):523-529. doi: 10.1515/jpm-2017-0187. PMID: 28915122
Demirsoy E, Sirin G, Ozker E
Tex Heart Inst J 2011;38(1):85-7. PMID: 21423479Free PMC Article
Campagnoli M, Hansson P, Dolcini L, Caridi G, Dagnino M, Candiano G, Bruschi M, Palmqvist L, Galliano M, Minchiotti L
Clin Chim Acta 2008 Oct;396(1-2):89-92. Epub 2008 Jun 12 doi: 10.1016/j.cca.2008.06.008. PMID: 18602380
Kallee E
J Lab Clin Med 1996 May;127(5):470-80. doi: 10.1016/s0022-2143(96)90064-5. PMID: 8621984

Diagnosis

Saba F; Najam-Un-Nasir
J Pak Med Assoc 2023 Apr;73(4):929-931. doi: 10.47391/JPMA.7177. PMID: 37052019
Caridi G, Dagnino M, Erdeve O, Di Duca M, Yildiz D, Alan S, Atasay B, Arsan S, Campagnoli M, Galliano M, Minchiotti L
Biochem Med (Zagreb) 2014;24(1):151-8. Epub 2014 Feb 15 doi: 10.11613/BM.2014.017. PMID: 24627724Free PMC Article
Campagnoli M, Hansson P, Dolcini L, Caridi G, Dagnino M, Candiano G, Bruschi M, Palmqvist L, Galliano M, Minchiotti L
Clin Chim Acta 2008 Oct;396(1-2):89-92. Epub 2008 Jun 12 doi: 10.1016/j.cca.2008.06.008. PMID: 18602380
Koot BG, Houwen R, Pot DJ, Nauta J
Eur J Pediatr 2004 Nov;163(11):664-70. Epub 2004 Aug 6 doi: 10.1007/s00431-004-1492-z. PMID: 15300429
Galliano M, Campagnoli M, Rossi A, Wirsing von König CH, Lyon AW, Cefle K, Yildiz A, Palanduz S, Ozturk S, Minchiotti L
Clin Chem 2002 Jun;48(6 Pt 1):844-9. PMID: 12028999

Therapy

Low BE, Wiles MV
Methods Mol Biol 2016;1438:115-22. doi: 10.1007/978-1-4939-3661-8_7. PMID: 27150087
Demirsoy E, Sirin G, Ozker E
Tex Heart Inst J 2011;38(1):85-7. PMID: 21423479Free PMC Article
Ruhoff MS, Greene MW, Peters T
Clin Biochem 2010 Mar;43(4-5):525-7. Epub 2009 Dec 16 doi: 10.1016/j.clinbiochem.2009.12.002. PMID: 20025859
Kallee E
J Lab Clin Med 1996 May;127(5):470-80. doi: 10.1016/s0022-2143(96)90064-5. PMID: 8621984
Russi E, Weigand K
Klin Wochenschr 1983 Jun 1;61(11):541-5. doi: 10.1007/BF01486843. PMID: 6348399

Prognosis

Amri Y, Aboulkacem S, Dabboubi R, Ayoub M, Lamine O, Othmani M, Aouni Z, Messaoud T, Mazigh C
Ann Biol Clin (Paris) 2023 May 16;81(2):204-209. doi: 10.1684/abc.2023.1806. PMID: 37184254
Caridi G, Gulec EY, Campagnoli M, Lugani F, Onal H, Kilic D, Galliano M, Minchiotti L
Biochem Med (Zagreb) 2016;26(2):264-71. doi: 10.11613/BM.2016.031. PMID: 27346974Free PMC Article
Dolcini L, Caridi G, Dagnino M, Sala A, Gökçe S, Sökücü S, Campagnoli M, Galliano M, Minchiotti L
Clin Chem 2007 Aug;53(8):1549-52. doi: 10.1373/clinchem.2007.089748. PMID: 17644793
Campagnoli M, Rosipal S, Debreová M, Rosipal R, Sala A, Romano A, Labò S, Galliano M, Minchiotti L
Clin Chim Acta 2006 Mar;365(1-2):188-93. Epub 2005 Sep 22 doi: 10.1016/j.cca.2005.08.016. PMID: 16183048
Galliano M, Campagnoli M, Rossi A, Wirsing von König CH, Lyon AW, Cefle K, Yildiz A, Palanduz S, Ozturk S, Minchiotti L
Clin Chem 2002 Jun;48(6 Pt 1):844-9. PMID: 12028999

Clinical prediction guides

Amri Y, Aboulkacem S, Dabboubi R, Ayoub M, Lamine O, Othmani M, Aouni Z, Messaoud T, Mazigh C
Ann Biol Clin (Paris) 2023 May 16;81(2):204-209. doi: 10.1684/abc.2023.1806. PMID: 37184254
Foster BM, Abdollahi A, Henderson GC
Biomolecules 2023 Feb 22;13(3) doi: 10.3390/biom13030407. PMID: 36979342Free PMC Article
Caridi G, Gulec EY, Campagnoli M, Lugani F, Onal H, Kilic D, Galliano M, Minchiotti L
Biochem Med (Zagreb) 2016;26(2):264-71. doi: 10.11613/BM.2016.031. PMID: 27346974Free PMC Article
Low BE, Wiles MV
Methods Mol Biol 2016;1438:115-22. doi: 10.1007/978-1-4939-3661-8_7. PMID: 27150087
Maugeais C, Braschi S, Ouguerram K, Maugeais P, Mahot P, Jacotot B, Darmaun D, Magot T, Krempf M
Arterioscler Thromb Vasc Biol 1997 Jul;17(7):1369-75. doi: 10.1161/01.atv.17.7.1369. PMID: 9261269

Recent systematic reviews

Foster BM, Abdollahi A, Henderson GC
Biomolecules 2023 Feb 22;13(3) doi: 10.3390/biom13030407. PMID: 36979342Free PMC Article

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