HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERTHYROXINEMIA, DYSPREALBUMINEMIC
HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC
Number of Symptoms 4
OrphanetNr:
OMIM Id: 145680
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0008247) Euthyroid hyperthyroxinemia 3 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
(OMIM) Euthyroid 3 / 7739
4
(OMIM) Hyperthyroxinemia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial euthyroidal hyperthyroxinemia is a 'nondisease' sometimes due to an anomaly of albumin, termed 'dysalbuminemic' (see 103600), or of transthyretin, termed 'dystransthyretinemic' or 'dysprealbuminemic.' Dysthyretinemic euthyroidal hyperthyroxinemia is secondary to an increased affinity for thyroxine (T4) by transthyretin ...
Clinical Description OMIM Maxon et al. (1982) described familial elevation of total and free thyroxine in healthy, euthyroid persons without detectable binding protein abnormalities. They interpreted this as representing an elevated threshold for the amount of free thyroxine substrate required to ...
Molecular genetics OMIM In the family studied by Moses et al. (1982), Moses et al. (1990) detected heterozygosity for a missense mutation in exon 4 of the TTR gene (176300.0015). Refetoff et al. (1996) (see 176300.0038) and others reported similar findings. ...