MCID: HYP645
MIFTS: 15

Hyperthyroxinemia, Dystransthyretinemic

Categories: Genetic diseases, Endocrine diseases

Aliases & Classifications for Hyperthyroxinemia, Dystransthyretinemic

MalaCards integrated aliases for Hyperthyroxinemia, Dystransthyretinemic:

Name: Hyperthyroxinemia, Dystransthyretinemic 57 75
Dystransthyretinemic Euthyroidal Hyperthyroxinemia 57 75 29 6 73
Dystransthyretinemic Hyperthyroxinemia 57 12
Euthryroidal Hyperthyroxinemia 2 57 75
Dttrh 57 75
Hyperthyroxinemia, Euthyroidal, Dystransthyretinemic 40
Hyperthyroxinemia Dystransthyretinemic 75
Hyperthyroxinemia, Dysprealbuminemic 57
Hyperthyroxinemia Dysprealbuminemic 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hyperthyroxinemia, dystransthyretinemic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 145680
Disease Ontology 12 DOID:0080219
MedGen 42 C2750824
MeSH 44 D006981
SNOMED-CT via HPO 69 263681008
UMLS 73 C2750824

Summaries for Hyperthyroxinemia, Dystransthyretinemic

UniProtKB/Swiss-Prot : 75 Hyperthyroxinemia, dystransthyretinemic: A condition characterized by elevation of total and free thyroxine in healthy, euthyroid persons without detectable binding protein abnormalities.

MalaCards based summary : Hyperthyroxinemia, Dystransthyretinemic, is also known as dystransthyretinemic euthyroidal hyperthyroxinemia. An important gene associated with Hyperthyroxinemia, Dystransthyretinemic is TTR (Transthyretin). 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)

Related Diseases for Hyperthyroxinemia, Dystransthyretinemic

Symptoms & Phenotypes for Hyperthyroxinemia, Dystransthyretinemic

Symptoms via clinical synopsis from OMIM:

57
Endocrine:
euthyroid

Lab:
hyperthyroxinemia


Clinical features from OMIM:

145680

Human phenotypes related to Hyperthyroxinemia, Dystransthyretinemic:

32
# Description HPO Frequency HPO Source Accession
1 euthyroid hyperthyroxinemia 32 HP:0008247

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

Publications for Hyperthyroxinemia, Dystransthyretinemic

Variations for Hyperthyroxinemia, Dystransthyretinemic

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

75
# Symbol AA change Variation ID SNP ID
1 TTR p.Ala129Thr VAR_007593 rs267607159

ClinVar genetic disease variations for Hyperthyroxinemia, Dystransthyretinemic:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TTR NM_000371.3(TTR): c.424G> A (p.Val142Ile) single nucleotide variant Pathogenic rs76992529 GRCh37 Chromosome 18, 29178618: 29178618
2 TTR NM_000371.3(TTR): c.424G> A (p.Val142Ile) single nucleotide variant Pathogenic rs76992529 GRCh38 Chromosome 18, 31598655: 31598655

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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