IllnessHyperthyroidism; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Hyperthyroidism comprising 7 curated genes according to the clinical signs

SP3377

Number of loci

Loci type	Count
Gen	7

Accredited laboratory test

Examined sequence length

11,4 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Loci panel

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ALB	1830	103600	NM_000477.7	AD
SECISBP2	2565	607693	NM_024077.5	AR
SLC16A2	1620	300095	NM_006517.5	XLR
THRA	1233	190120	NM_199334.5	AD
THRB	1386	190160	NM_000461.5	AD, AR
TSHR	2295	603372	NM_000369.5	AD
TTR	444	176300	NM_000371.4

Informations about the disease

Clinical Comment

illness_ClinicalComment_SP3377

Synonyms

Alias: Abnormal thyroid hormone metabolism (SECISBP)
Alias: Congenital, nonautoimmune hyperthyroidism (TSHR)
Alias: Hyperthyroidism [familial] (TRHB)
Alias: Hyperthyroxinaemia
Allelic: Amyloidosis, hereditary, transthyretin-related (TTR)
Allelic: Analbuminemia (ALB)
Allelic: Carpal tunnel syndrome, familial (TTR)
Allelic: Hypothyroidism, congenital, nongoitrous, 1 (TSHR)
Allelic: Hypothyroidism, congenital, nongoitrous, 6 (THRA)
Allelic: Thyroid hormone resistance (THRB)
Allelic: Thyroid hormone resistance, AR (THRB)
Allelic: Thyroid hormone resistance, selective pituitary (THRB)
Allan-Herndon-Dudley syndrome (SLC16A2)
Allelic: Celiac disease, susceptibility to, 3 (CTLA4)
Allelic: Diabetes mellitus, insulin-dependent, 12 (CTLA4)
Allelic: Diabetes, mellitus, insulin-dependent, susceptibility to, 10 (IL2RA)
Allelic: Diabetes, type 1, susceptibility to (PTPN22)
Allelic: Rheumatoid arthritis, susceptibility to (PTPN22)
Allelic: Systemic lupus erythematosus susceptibility to (PTPN22)
Allelic: Systemic lupus erythematosus, susceptibility to (CTLA4)
Dysalbuminemic hyperthyroxinemia (ALB)
Dystransthyretinemic hyperthyroxinemia (TTR)
Hashimoto thyroiditis (CTLA4)
Hyperthyroidism, familial gestational (TSHR)
Hyperthyroidism, nonautoimmune (TSHR)
Hyperthyroidism, transitional (THRA, THRB)
Immune dysregulation with autoimmunity, immunodeficiency, lymphoproliferation (CTLA4)
Immunodeficiency 41 with lymphoproliferation + autoimmunity (IL2RA)
Thyroid adenoma, hyperfunctioning, somatic (TSHR)
Thyroid carcinoma with thyrotoxicosis (TSHR)
Thyroid hormone metabolism, abnormal (SECISBP2)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined