Details of Disease

Disease Name

Hyperthyroxinemia, familial dysalbuminemic

euthyroid hyperthyroxinemia 1; FDH; FDAH; hyperthyroxinemia, familial Dysalbuminemic; hyperthyroxinemia, familial dysalbuminemic; dysalbuminemic hyperthyroxinemia; dysalbuminemic hypertriiodothyroninemia; familial Dysalbuminemic hyperthyroxinemia; bisalbuminemia; familial Dysalbuminemic hyperthyroidism

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.

Disease Hierarchy

DISYKSRF: Genetic disease

DISX87ZH: Hyperthyroidism

DIS13CUJ: Hyperthyroxinemia

DIS0BPAW: Hyperthyroxinemia, familial dysalbuminemic

Disease Identifiers

MONDO ID

MONDO_0014448

MESH ID

D050010

UMLS CUI

C0342185

OMIM ID

615999

MedGen ID

90974

Orphanet ID

276271

SNOMED CT ID

237547004

General Information of Disease (ID: DIS0BPAW)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ALB	TTFNGC9	Strong	Autosomal dominant	[1]
PORCN	TTNFBTO	Strong	Biomarker	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ADH5	DEIOH6A	Strong	Biomarker	[3]
------------------------------------------------------------------------------------

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALB	OTVMM513	Strong	Autosomal dominant	[1]
ALDH1L1	OT15HOJX	Strong	Biomarker	[3]
HCCS	OTQE88BE	Strong	Genetic Variation	[4]
OXA1L	OTS0BFRD	Strong	Genetic Variation	[5]
SACM1L	OT6ORKTD	Strong	Genetic Variation	[6]
SERPINA7	OTUYVTSU	Strong	Biomarker	[7]
------------------------------------------------------------------------------------


⏷ Show the Full List of 6 DOT(s)

References

1	Familial dysalbuminaemic hyperthyroxinaemia: a rapid and novel mass spectrometry approach to diagnosis. Ann Clin Biochem. 2016 Jul;53(Pt 4):504-7. doi: 10.1177/0004563215598168. Epub 2015 Jul 13.
2	Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. 2007 Jul;39(7):836-8. doi: 10.1038/ng2057. Epub 2007 Jun 3.
3	Clinical, Genetic, and Protein Structural Aspects of Familial Dysalbuminemic Hyperthyroxinemia and Hypertriiodothyroninemia.Front Endocrinol (Lausanne). 2017 Nov 1;8:297. doi: 10.3389/fendo.2017.00297. eCollection 2017.
4	Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.Eur J Hum Genet. 2009 Oct;17(10):1207-15. doi: 10.1038/ejhg.2009.40. Epub 2009 Mar 11.
5	Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests.Thyroid. 2018 Jun;28(6):811-814. doi: 10.1089/thy.2017.0564. Epub 2018 May 24.
6	Familial dysalbuminemic hyperthyroxinemia: a rare example of albumin polymorphism and its rapid molecular diagnosis.J Pediatr Endocrinol Metab. 2002 Jun;15(6):801-7. doi: 10.1515/jpem.2002.15.6.801.
7	Artifactually elevated serum-free thyroxine levels measured by equilibrium dialysis in a pregnant woman with familial dysalbuminemic hyperthyroxinemia.Thyroid. 2004 Feb;14(2):155-60. doi: 10.1089/105072504322880409.