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Disease Profile

Congenital analbuminemia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Analbuminemia; ANALBA

Categories

Blood Diseases; Congenital and Genetic Diseases

Summary

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.[1][1134] CAA is caused by mutations in the ALB gene.[1] Inheritance is autosomal recessive. Treatment aims to prevent heart and vascular problems and may include statins and periodic albumin infusions.[2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Hypoalbuminemia
Low blood albumin
0003073
30%-79% of people have these symptoms
Fatigue
Tired
Tiredness

[ more ]

0012378
Hypercholesterolemia
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol

[ more ]

0003124
Hyperlipidemia
Elevated lipids in blood
0003077
Hypoproteinemia
Decreased protein levels in blood
0003075
Increased alpha-globulin
0005413
Increased circulating antibody level
0010702
Lipodystrophy
Inability to make and keep healthy fat tissue
0009125
Pedal edema
Fluid accumulation in lower limbs
Lower leg swelling

[ more ]

0010741
Premature birth
Premature delivery of affected infants
Preterm delivery

[ more ]

0001622
Small for gestational age
Birth weight less than 10th percentile
Low birth weight

[ more ]

0001518
5%-29% of people have these symptoms
Facial edema
Facial puffiness
Facial swelling

[ more ]

0000282
Low pulse pressure
0030851
Mild global developmental delay
0011342
Obesity
Having too much body fat
0001513
Oligohydramnios
Low levels of amniotic fluid
0001562
Recurrent lower respiratory tract infections
Recurrent chest infections
0002783
Spontaneous abortion
0005268
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Hypotension
Low blood pressure
0002615
Osteoporosis
0000939

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

References

  1. Analbuminemia. OMIM. 2014; https://omim.org/entry/616000.
  2. Del Ben M, Angelico F, Loffredo L & Violi F. Treatment of a patient with congenital analbuminemia with atorvastatin and albumin infusion. World J Clin Cases. April, 2013; 1(1):44-8. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3845927/.
  3. Congenital analbuminemia. Orphanet. 2008; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86816.