Hyperthyroxinemia, familial dysalbuminemic
Hyperthyroxinemia, familial dysalbuminemic
Definition
An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4.
Also known as bisalbuminemia, dysalbuminemic hyperthyroxinemia, dysalbuminemic hypertriiodothyroninemia, familial Dysalbuminemic hyperthyroidism, familial Dysalbuminemic hyperthyroxinemia, hyperthyroxinemia, familial Dysalbuminemic — per MONDO
Also identified as
- MESH D050010 per MONDO
- NCIT C131813 per MONDO
- OMIM 615999 per MONDO
- Orphanet 276271 per MONDO
- SCTID 237547004 per MONDO
- UMLS C0342185 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Craniocervical region | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Craniocervical region | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Endocrine gland | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Neck | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Neck | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Thyroid gland | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Thyroid gland | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |