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.
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
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
Search interest in ALB
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 Portugal.
Analbuminemia (sequence analysis of ALB gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ALB gene.
More info about this panel Portugal.
ALB Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALB gene.
More info about this panel United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TONSL HJV PIK3CA SLC6A5