DTTRH
MCID: HYP645
MIFTS: 20

Hyperthyroxinemia, Dystransthyretinemic (DTTRH)

Categories: Endocrine diseases, Genetic diseases

Aliases & Classifications for Hyperthyroxinemia, Dystransthyretinemic

MalaCards integrated aliases for Hyperthyroxinemia, Dystransthyretinemic:

Name: Hyperthyroxinemia, Dystransthyretinemic 57 72
Dystransthyretinemic Euthyroidal Hyperthyroxinemia 57 72 29 6 70
Dystransthyretinemic Hyperthyroxinemia 57 12
Euthryroidal Hyperthyroxinemia 2 57 72
Dttrh 57 72
Hyperthyroxinemia, Euthyroidal, Dystransthyretinemic 39
Hyperthyroxinemia Dystransthyretinemic 72
Hyperthyroxinemia, Dysprealbuminemic 57
Hyperthyroxinemia Dysprealbuminemic 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
hyperthyroxinemia, dystransthyretinemic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080219
OMIM® 57 145680
MeSH 44 D006981
MedGen 41 C2750824
SNOMED-CT via HPO 68 263681008
UMLS 70 C2750824

Summaries for Hyperthyroxinemia, Dystransthyretinemic

Disease Ontology : 12 A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has material basis in heterozygous mutation in the TTR gene on chromosome 18q12.

MalaCards based summary : Hyperthyroxinemia, Dystransthyretinemic, is also known as dystransthyretinemic euthyroidal hyperthyroxinemia. An important gene associated with Hyperthyroxinemia, Dystransthyretinemic is TTR (Transthyretin). Affiliated tissues include thyroid, and related phenotype is euthyroid hyperthyroxinemia.

OMIM® : 57 Dystransthyretinemic hyperthyroxinemia is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals (summary by Moses et al., 1990). (145680) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Hyperthyroxinemia, dystransthyretinemic: A condition characterized by elevation of total and free thyroxine in healthy, euthyroid persons without detectable binding protein abnormalities.

Related Diseases for Hyperthyroxinemia, Dystransthyretinemic

Symptoms & Phenotypes for Hyperthyroxinemia, Dystransthyretinemic

Human phenotypes related to Hyperthyroxinemia, Dystransthyretinemic:

31
# Description HPO Frequency HPO Source Accession
1 euthyroid hyperthyroxinemia 31 HP:0008247

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine:
euthyroid

Lab:
hyperthyroxinemia

Clinical features from OMIM®:

145680 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hyperthyroxinemia, Dystransthyretinemic

Search Clinical Trials , NIH Clinical Center for Hyperthyroxinemia, Dystransthyretinemic

Genetic Tests for Hyperthyroxinemia, Dystransthyretinemic

Genetic tests related to Hyperthyroxinemia, Dystransthyretinemic:

# Genetic test Affiliating Genes
1 Dystransthyretinemic Euthyroidal Hyperthyroxinemia 29 TTR

Anatomical Context for Hyperthyroxinemia, Dystransthyretinemic

MalaCards organs/tissues related to Hyperthyroxinemia, Dystransthyretinemic:

40
Thyroid

Publications for Hyperthyroxinemia, Dystransthyretinemic

Articles related to Hyperthyroxinemia, Dystransthyretinemic:

# Title Authors PMID Year
1
A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study. 6 57
8784093 1996
2
A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia. 57 6
1979335 1990
3
Familial euthyroid hyperthyroxinemia resulting from increased thyroxine binding to thyroxine-binding prealbumin. 57 6
6801514 1982
4
Hyperthyroxinemia due to the coexistence of two raised affinity thyroxine-binding proteins (albumin and prealbumin) in one family. 57
3098776 1987
5
Analysis of genetic variation in two human thyroxine-binding plasma proteins by immunodetection after isoelectric focusing. 57
3935040 1985
6
Familial elevations of total and free thyroxine in healthy, euthyroid subjects without detectable binding protein abnormalities. 57
6287778 1982

Variations for Hyperthyroxinemia, Dystransthyretinemic

ClinVar genetic disease variations for Hyperthyroxinemia, Dystransthyretinemic:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TTR TTR, ALA109THR Variation Affects 13431 GRCh37:
GRCh38:
2 TTR NM_000371.3(TTR):c.386C>T (p.Ala129Val) SNV Affects 13454 rs121918092 GRCh37: 18:29178580-29178580
GRCh38: 18:31598617-31598617
3 TTR NM_000371.4(TTR):c.148G>A (p.Val50Met) SNV Pathogenic 13417 rs28933979 GRCh37: 18:29172937-29172937
GRCh38: 18:31592974-31592974
4 TTR NM_000371.3(TTR):c.250T>C (p.Phe84Leu) SNV Pathogenic 13453 rs121918091 GRCh37: 18:29175132-29175132
GRCh38: 18:31595169-31595169
5 TTR NM_000371.4(TTR):c.424G>A (p.Val142Ile) SNV Pathogenic 13426 rs76992529 GRCh37: 18:29178618-29178618
GRCh38: 18:31598655-31598655
6 TTR NM_000371.3(TTR):c.280G>C (p.Asp94His) SNV Uncertain significance 181695 rs730881164 GRCh37: 18:29175162-29175162
GRCh38: 18:31595199-31595199

UniProtKB/Swiss-Prot genetic disease variations for Hyperthyroxinemia, Dystransthyretinemic:

72
# Symbol AA change Variation ID SNP ID
1 TTR p.Ala129Thr VAR_007593 rs267607159

Expression for Hyperthyroxinemia, Dystransthyretinemic

Search GEO for disease gene expression data for Hyperthyroxinemia, Dystransthyretinemic.

Pathways for Hyperthyroxinemia, Dystransthyretinemic

GO Terms for Hyperthyroxinemia, Dystransthyretinemic

Sources for Hyperthyroxinemia, Dystransthyretinemic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....