MCID: CNG336
MIFTS: 15

Congenital Analbuminemia

Categories: Blood diseases, Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Congenital Analbuminemia

MalaCards integrated aliases for Congenital Analbuminemia:

Name: Congenital Analbuminemia 54
Analbuminemia 54
Analba 54

Classifications:



Summaries for Congenital Analbuminemia

NIH Rare Diseases : 54 Congenital analbuminemia (CAA) is a rare disorder characterized by the absence or very low levels of human serum albumin (HSA). Although albumin is the most abundant plasma protein and has many functions, patients with CAA present with only a few mild clinical signs, such as fatigue, low blood pressure, and swelling (edema). However, CAA patients may loss fat tissue (lipodystrophy)  and present with high cholesterol, which may result in early atherosclerosis and heart problems. Rarely, CAA may be complicated by hypercoagulability (when the blood tends to clot too much), osteoporosis (which causes bones to become weak and brittle) and respiratory tract infections. It is more severe in the fetus or during early infancy. CAA is caused by mutations in the ALB gene. Inheritance is autosomal recessive. Treatment aims to prevent heart and vascular problems and may include statins and periodic albumin infusions.

MalaCards based summary : Congenital Analbuminemia, also known as analbuminemia, is related to analbuminemia and glomerulonephritis. An important gene associated with Congenital Analbuminemia is ALB (Albumin). Affiliated tissues include bone and heart.

Related Diseases for Congenital Analbuminemia

Diseases in the Analbuminemia family:

Congenital Analbuminemia

Diseases related to Congenital Analbuminemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 analbuminemia 11.6
2 glomerulonephritis 10.1
3 nephrotic syndrome 10.1

Symptoms & Phenotypes for Congenital Analbuminemia

Drugs & Therapeutics for Congenital Analbuminemia

Search Clinical Trials , NIH Clinical Center for Congenital Analbuminemia

Genetic Tests for Congenital Analbuminemia

Anatomical Context for Congenital Analbuminemia

MalaCards organs/tissues related to Congenital Analbuminemia:

42
Bone, Heart

Publications for Congenital Analbuminemia

Articles related to Congenital Analbuminemia:

(show all 14)
# Title Authors Year
1
Congenital analbuminemia in a patient affected by hypercholesterolemia: A case report. ( 30842957 )
2019
2
Congenital Analbuminemia in Unrelated Algerian and Turkish Families is Caused by the Same Molecular Defect in the Albumin Gene. ( 29214768 )
2018
3
A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family. ( 29981851 )
2018
4
Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene. ( 24627724 )
2014
5
Treatment of a patient with congenital analbuminemia with atorvastatin and albumin infusion. ( 24303462 )
2013
6
Perinatal and childhood morbidity and mortality in congenital analbuminemia. ( 23730173 )
2012
7
Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge. ( 18791744 )
2009
8
A boy with congenital analbuminemia and steroid-sensitive idiopathic nephrotic syndrome: an experiment of nature. ( 17952464 )
2008
9
A speculation about hypercholesterolemia in congenital analbuminemia. ( 16443434 )
2006
10
Congenital analbuminemia attributable to compound heterozygosity for novel mutations in the albumin gene. ( 15976105 )
2005
11
Treatment of severe hypercholesterolemia with atorvastatin in congenital analbuminemia. ( 15541334 )
2004
12
Influence of methodology on the detection and diagnosis of congenital analbuminemia. ( 9799768 )
1998
13
Structural integrity of the human albumin gene in congenital analbuminemia. ( 6316971 )
1983
14
Turnover of autologous alpha 1-antitrypsin in a patient with congenital analbuminemia. ( 6603561 )
1983

Variations for Congenital Analbuminemia

Expression for Congenital Analbuminemia

Search GEO for disease gene expression data for Congenital Analbuminemia.

Pathways for Congenital Analbuminemia

GO Terms for Congenital Analbuminemia

Sources for Congenital Analbuminemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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