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Congenital analbuminemia

MedGen UID:
930922
Concept ID:
C4305253
Disease or Syndrome
Synonyms: ANALBA; analbuminemia; congenital analbuminemia
SNOMED CT: Congenital analbuminemia (718721006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0014449
Orphanet: ORPHA86816

Definition

The absence or dramatic reduction of circulating human serum albumin (HSA) with less than 50 cases reported in the literature so far. In the majority of cases the disorder is diagnosed in adulthood. Although albumin is the most abundant plasma protein and has many functions, patients present with only a few mild clinical signs and biochemical abnormalities, HSA is either absent or present at very low levels (<1 g/L) but liver function is normal and there is an absence of conditions leading to significant protein loss. The disorder appears to be more severe in the fetus or during early infancy. Transmitted as an autosomal recessive trait and consanguinity has been shown in all reported cases, the disorder is caused by homozygous or compound heterozygous mutations in the gene coding for HSA (ALB; 4q13.3). [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital analbuminemia

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

Diagnosis

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
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, Sala A, Labò S, Rossi A, Neuhaus TJ, Braegger CP, Minchiotti L, Galliano M
Clin Biochem 2005 Sep;38(9):819-23. doi: 10.1016/j.clinbiochem.2005.05.013. PMID: 15996651
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

Therapy

Demirsoy E, Sirin G, Ozker E
Tex Heart Inst J 2011;38(1):85-7. PMID: 21423479Free PMC Article

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
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
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

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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