ALB gene related symptoms and diseases

All the information presented here about the ALB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ALB gene

Symptoms // Phenotype % Cases
Hyperlipidemia Very Common - Between 80% and 100% cases
Hypercholesterolemia Very Common - Between 80% and 100% cases
Neoplasm Uncommon - Between 30% and 50% cases
Hypercoagulability Uncommon - Between 30% and 50% cases
Thyroid hormone receptor defect Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ALB gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Graves disease
  • Hyperthyroidism
  • Goiter
  • Hypothyroidism
  • Asthenia
  • Hypoalbuminemia
  • Lipodystrophy
  • Fatigue

And 7 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ALB gene

Here you will find a list of rare diseases related to the ALB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONGENITAL ANALBUMINEMIA


Description

Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).

Most common symptoms of CONGENITAL ANALBUMINEMIA

  • Neoplasm
  • Fatigue
  • Edema
  • Osteoporosis
  • Carcinoma


More info about CONGENITAL ANALBUMINEMIA

SOURCES: OMIM ORPHANET

HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC; FDAH


Alternate names

HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC; FDAH Is also known as fdh, euthyroid hyperthyroxinemia 1

Description

Familial dysalbuminemic hyperthyroxinemia is an autosomal dominant condition characterized by the presence of a variant serum albumin with preferential affinity for thyroxine (T4) in clinically euthyroid individuals. Individuals have consistently elevated total T4 and elevated or normal free T4 values with normal TSH levels. The condition may be confused with hyperthyroidism or thyroid hormone resistance syndromes, prompting repeated unnecessary laboratory testing and possibly even inappropriate treatment (summary by Heufelder et al., 1995).

Most common symptoms of HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC; FDAH

  • Hypothyroidism
  • Hyperlipidemia
  • Hypercholesterolemia
  • Goiter
  • Hyperthyroidism


More info about HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC; FDAH

SOURCES: MESH OMIM


Potential gene panels for ALB gene

Analbuminemia (sequence analysis of ALB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ALB gene.

More info about this panel

Analbuminemia (sequence analysis of ALB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ALB gene.

More info about this panel

ALB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ALB gene.

More info about this panel


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