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 56 52 71
Thyroid Hormone Resistance Due to T4 Plasma Membrane Transport Defect 56 52
Hyperthyroxinemia, Eumetabolic, Due to T4 Plasma Membrane Transport 56 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
thyroid hormone plasma membrane transport defect:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 188560
MedGen 41 C1861101
SNOMED-CT via HPO 68 263681008 3716002
UMLS 71 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

More information 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:

31
# Description HPO Frequency HPO Source Accession
1 goiter 31 HP:0000853
2 euthyroid hyperthyroxinemia 31 HP:0008247

Symptoms via clinical synopsis from OMIM:

56
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:

40
Thyroid

Publications for Thyroid Hormone Plasma Membrane Transport Defect

Articles related to Thyroid Hormone Plasma Membrane Transport Defect:

# Title Authors PMID Year
1
Familial resistance to thyroid hormone associated with decreased transport across the plasma membrane. 56
6305243 1983

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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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