MCID: THY053
MIFTS: 11

Thyroid Hormone Plasma Membrane Transport Defect

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Thyroid Hormone Plasma Membrane Transport Defect

MalaCards integrated aliases for Thyroid Hormone Plasma Membrane Transport Defect:

Name: Thyroid Hormone Plasma Membrane Transport Defect 58 54 74
Thyroid Hormone Resistance Due to T4 Plasma Membrane Transport Defect 58 54
Hyperthyroxinemia, Eumetabolic, Due to T4 Plasma Membrane Transport 58 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
thyroid hormone plasma membrane transport defect:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 188560
MedGen 43 C1861101
SNOMED-CT via HPO 70 263681008 3716002
UMLS 74 C1861101

Summaries for Thyroid Hormone Plasma Membrane Transport Defect

MalaCards based summary : Thyroid Hormone Plasma Membrane Transport Defect, is also known as thyroid hormone resistance due to t4 plasma membrane transport defect. Affiliated tissues include thyroid, and related phenotypes are goiter and euthyroid hyperthyroxinemia

Description from OMIM: 188560

Related Diseases for Thyroid Hormone Plasma Membrane Transport Defect

Symptoms & Phenotypes for Thyroid Hormone Plasma Membrane Transport Defect

Human phenotypes related to Thyroid Hormone Plasma Membrane Transport Defect:

33
# Description HPO Frequency HPO Source Accession
1 goiter 33 HP:0000853
2 euthyroid hyperthyroxinemia 33 HP:0008247

Symptoms via clinical synopsis from OMIM:

58
Neck:
enlarged thyroid located mostly substernally

Lab:
eumetabolic hyperthyroxinemia
normal serum protein binding of t4
plasma membrane t4 transport defect

Clinical features from OMIM:

188560

Drugs & Therapeutics for Thyroid Hormone Plasma Membrane Transport Defect

Search Clinical Trials , NIH Clinical Center for Thyroid Hormone Plasma Membrane Transport Defect

Genetic Tests for Thyroid Hormone Plasma Membrane Transport Defect

Anatomical Context for Thyroid Hormone Plasma Membrane Transport Defect

MalaCards organs/tissues related to Thyroid Hormone Plasma Membrane Transport Defect:

42
Thyroid

Publications for Thyroid Hormone Plasma Membrane Transport Defect

Variations for Thyroid Hormone Plasma Membrane Transport Defect

Expression for Thyroid Hormone Plasma Membrane Transport Defect

Search GEO for disease gene expression data for Thyroid Hormone Plasma Membrane Transport Defect.

Pathways for Thyroid Hormone Plasma Membrane Transport Defect

GO Terms for Thyroid Hormone Plasma Membrane Transport Defect

Sources for Thyroid Hormone Plasma Membrane Transport Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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