MCID: CNG336
MIFTS: 15

Congenital Analbuminemia

Categories: Rare diseases, Blood diseases, Genetic diseases

Aliases & Classifications for Congenital Analbuminemia

MalaCards integrated aliases for Congenital Analbuminemia:

Name: Congenital Analbuminemia 49
Analbuminemia 49
Analba 49

Classifications:



Summaries for Congenital Analbuminemia

NIH Rare Diseases : 49 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. Last updated: 6/21/2016

MalaCards based summary : Congenital Analbuminemia, also known as analbuminemia, is related to analbuminemia and hypercholesterolemia, autosomal dominant, 3. An important gene associated with Congenital Analbuminemia is ALB (Albumin). Affiliated tissues include heart and bone.

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 11.4
2 hypercholesterolemia, autosomal dominant, 3 10.1
3 glomerulonephritis 9.9
4 nephrotic syndrome 9.9

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:

38
Heart, Bone

Publications for Congenital Analbuminemia

Articles related to Congenital Analbuminemia:

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

Variations for Congenital Analbuminemia

ClinVar genetic disease variations for Congenital Analbuminemia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ALB NM_000477.6(ALB): c.714-2A> G single nucleotide variant Pathogenic rs77335374 GRCh37 Chromosome 4, 74277711: 74277711
2 ALB NM_000477.5(ALB): c.872dupA (p.Asn291Lysfs) duplication Pathogenic rs77449454 GRCh37 Chromosome 4, 74279165: 74279165

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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