MCID: MYX004
MIFTS: 43

Myxedema

Categories: Endocrine diseases
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Aliases & Classifications for Myxedema

MalaCards integrated aliases for Myxedema:

Name: Myxedema 57 11 75 53 43 14 16 71

Characteristics:


Inheritance:

Autosomal recessive sex-influenced 57

Classifications:



Summaries for Myxedema

MalaCards based summary: Myxedema is related to autoimmune polyendocrine syndrome, type ii and toxic diffuse goiter. An important gene associated with Myxedema is TSHR (Thyroid Stimulating Hormone Receptor), and among its related pathways/superpathways are G alpha (s) signalling events and Thyroid hormones production and peripheral downstream signaling effects. Affiliated tissues include thyroid, skin and pituitary, and related phenotypes are constipation and hypothyroidism

Wikipedia: 75 Myxedema is a term used synonymously with severe hypothyroidism. However, the term is also used to... more...

More information from OMIM: 255900

Related Diseases for Myxedema

Diseases related to Myxedema via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 469)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome, type ii 31.8 POMC INS
2 toxic diffuse goiter 31.6 TSHR TPO TG
3 graves' disease 31.6 TSHR TPO TG SERPINA7 CTLA4
4 hashimoto thyroiditis 31.3 TSHR TPO TG SERPINA7 CTLA4
5 hypothyroidism, congenital, nongoitrous, 2 30.9 TSHR TG
6 graves ophthalmopathy 30.8 TSHR TG CTLA4
7 hypothyroidism, congenital, nongoitrous, 1 30.8 TSHR TSHB TG
8 congenital hypothyroidism 30.7 TSHR TSHB TPO TG SERPINA7 ALB
9 cardiogenic shock 30.6 PIK3C2A NPPA
10 goiter 30.3 TSHR TPO TG SERPINA7 INS
11 pericardial effusion 30.3 PIK3C2A NPPA MUC16 ALB
12 sheehan syndrome 30.2 POMC INS AVP
13 endocrine exophthalmos 30.1 TSHR TPO TG
14 goiter, multinodular 1, with or without sertoli-leydig cell tumors 30.1 TPO TG
15 pernicious anemia 30.0 TPO TG INS
16 thyroid gland follicular carcinoma 30.0 TSHR TPO TG
17 scleredema adultorum 29.9 POMC INS
18 hypoparathyroidism 29.9 TPO INS CTLA4
19 adenoma 29.9 TSHR TSHB TG POMC
20 thyroid crisis 29.9 TSHR TPO TG SERPINA7 POMC
21 orbital disease 29.9 TSHR TG
22 pituitary hormone deficiency, combined, 2 29.8 TSHB POMC AVP
23 graves disease 1 29.8 TSHR TPO TG SERPINA7 POMC INS
24 thyroid gland cancer 29.8 TSHR TPO TG POMC
25 subacute thyroiditis 29.8 TSHR TPO TG SERPINA7
26 thyroiditis 29.8 TSHR TSHB TPO TG SERPINA7 INS
27 multinodular goiter 29.7 TSHR TPO TG
28 hypoadrenocorticism, familial 29.7 TPO TG POMC CTLA4
29 paralytic ileus 29.7 INS AVP ALB
30 nontoxic goiter 29.7 TSHR TPO TG SERPINA7
31 nodular goiter 29.6 TSHR TPO TG CTLA4
32 inappropriate adh syndrome 29.6 POMC NPPA AVP ALB
33 pituitary apoplexy 29.6 POMC INS AVP
34 acute thyroiditis 29.4 TPO TG SERPINA7 CTLA4
35 hypothyroidism, congenital, nongoitrous, 4 29.4 TSHB TPO TG POMC
36 apnea, obstructive sleep 29.3 POMC INS ALB
37 myocarditis 29.3 PIK3C2A NPPA CTLA4 ALB
38 diabetes insipidus 29.3 TG POMC INS AVP
39 hyperthyroidism 29.3 TSHR TPO TG SERPINA7 POMC INS
40 acute kidney failure 29.3 PIK3C2A NPPA ALB
41 thyroid hormone resistance, generalized, autosomal dominant 29.2 TSHR TSHB TG SERPINA7
42 eye disease 29.2 TSHR POMC INS CTLA4 ALB
43 iodine hypothyroidism 29.2 TSHR TPO TG ALB
44 atrial heart septal defect 29.1 NPPA INS ALB
45 compartment syndrome 29.1 PIK3C2A INS ALB
46 lipoprotein quantitative trait locus 29.1 PIK3C2A NPPA INS AVP ALB
47 pituitary gland disease 29.1 TSHB POMC INS AVP
48 liver cirrhosis 29.0 NPPA INS AVP ALB
49 celiac disease 1 29.0 TPO TG INS CTLA4 ALB
50 euthyroid sick syndrome 28.9 TG SERPINA7 POMC ALB

Graphical network of the top 20 diseases related to Myxedema:



Diseases related to Myxedema

Symptoms & Phenotypes for Myxedema

Human phenotypes related to Myxedema:

30 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 30 HP:0002019
2 hypothyroidism 30 HP:0000821
3 muscle weakness 30 HP:0001324
4 fatigue 30 HP:0012378
5 dry skin 30 HP:0000958
6 hypohidrosis 30 HP:0000966
7 easy fatigability 30 HP:0003388
8 paresthesia 30 HP:0003401
9 hoarse voice 30 HP:0001609
10 memory impairment 30 HP:0002354
11 goiter 30 HP:0000853
12 lethargy 30 HP:0001254
13 muscle spasm 30 HP:0003394
14 elevated circulating thyroid-stimulating hormone concentration 30 HP:0002925

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
G I:
constipation

Misc:
fatigue
lethargy
weakness
cold intolerance
thyrotoxicosis in relatives
more
Neuro:
paresthesias
decreased memory

Voice:
husky

Endocrine:
hypothyroidism

Muscle:
muscle cramps

Skin:
decreased sweating
coarse, dry skin
puffy, non-pitting swelling of face, hands and limbs

Lab:
low free t4
high tsh

Clinical features from OMIM®:

255900 (Updated 08-Dec-2022)

Drugs & Therapeutics for Myxedema

Search Clinical Trials, NIH Clinical Center for Myxedema

Inferred drug relations via UMLS 71 / NDF-RT 50 :


levothyroxine
Levothyroxine Sodium
liothyronine
liothyronine sodium
Thyroglobulin
THYROID (BEEF)
thyroid (USP)
THYROID PWDR

Cochrane evidence based reviews: myxedema

Genetic Tests for Myxedema

Anatomical Context for Myxedema

Organs/tissues related to Myxedema:

MalaCards : Thyroid, Skin, Pituitary, Heart, Adrenal Cortex, Skeletal Muscle, Colon

Publications for Myxedema

Articles related to Myxedema:

(show top 50) (show all 2181)
# Title Authors PMID Year
1
Status of anti-thyroid peroxidase during normal pregnancy and in patients with hyperemesis gravidarum. 53 62
16756470 2006
2
Thyrotropin receptor antibodies: new insights into their actions and clinical relevance. 53 62
15826921 2005
3
Pretibial myxedema: pathophysiology and treatment options. 53 62
16252929 2005
4
Thyrotropin receptor autoantibodies (TSHRAbs): epitopes, origins and clinical significance. 53 62
14669940 2003
5
Regulation of the phosphatidylinositol 3-kinase, Akt/protein kinase B, FRAP/mammalian target of rapamycin, and ribosomal S6 kinase 1 signaling pathways by thyroid-stimulating hormone (TSH) and stimulating type TSH receptor antibodies in the thyroid gland. 53 62
12668683 2003
6
Hashimoto's thyroiditis with heterogeneous antithyrotropin receptor antibodies: unique epitopes may contribute to the regulation of thyroid function by the antibodies. 53 62
10852437 2000
7
Characterization of monoclonal thyroid-stimulating and thyrotropin binding-inhibiting autoantibodies from a Hashimoto's patient whose children had intrauterine and neonatal thyroid disease. 53 62
9398703 1997
8
Recombinant human TSH receptor expressed in E. coli. 53 62
9247724 1997
9
Experimental autoimmunity to thyrotropin receptor. 53 62
8986417 1996
10
Bispecific thyroglobulin and thyroperoxidase autoantibodies in patients with various thyroid and autoimmune diseases. 53 62
7962336 1994
11
Receptor cross-talk can optimize assays for autoantibodies to the thyrotropin receptor: effect of phenylisopropyladenosine on adenosine 3',5'-monophosphate and inositol phosphate levels in rat FRTL-5 thyroid cells. 53 62
8077307 1993
12
Use of thyrotropin receptor (TSHR) mutants to detect stimulating TSHR antibodies in hypothyroid patients with idiopathic myxedema, who have blocking TSHR antibodies. 53 62
8100829 1993
13
Identification of thyroid-stimulating antibody-specific interaction sites in the N-terminal region of the thyrotropin receptor. 53 62
8095322 1993
14
[Results of high-dose intravenous immunoglobulin treatment of patients with pretibial myxedema and Basedow's disease. Preliminary findings]. 53 62
1281765 1992
15
Interactions between the immune system and the thyroid. Regulatory networks in health and disease. 53 62
1284333 1992
16
Identification of separate determinants on the thyrotropin receptor reactive with Graves' thyroid-stimulating antibodies and with thyroid-stimulating blocking antibodies in idiopathic myxedema: these determinants have no homologous sequence on gonadotropin receptors. 53 62
1349156 1992
17
Further characterization of a high affinity thyrotropin binding site on the rat thyrotropin receptor which is an epitope for blocking antibodies from idiopathic myxedema patients but not thyroid stimulating antibodies from Graves' patients. 53 62
1719963 1991
18
Lower limb pain and edema due to thyroid dermopathy: an unusual presentation of Graves disease in an adolescent patient. 62
36378230 2022
19
Graves' disease complicated by concurrent thyroid eye disease and pretibial myxedema successfully treated with teprotumumab. 62
36415714 2022
20
Laryngeal myxedema as a cause of reversible subglottic stenosis in a newborn. 62
36084478 2022
21
Improvement of Pretibial Myxedema Following Administration of Teprotumumab. 62
36342728 2022
22
Indications for ordering thyroid-stimulating hormone in noncritically ill adult inpatients-A Delphi consensus recommendation. 62
35694880 2022
23
Acute psychosis unveiling diagnosis of hypothyroidism: A case report. 62
36268381 2022
24
Sustained remission of psychotic symptoms secondary to hypothyroidism (myxedema psychosis) after 6 months of treatment primarily with levothyroxine: a case report. 62
36261867 2022
25
A Case of Elephantiasic Pretibial Myxedema Successfully Treated With Intralesional Triamcinolone Acetate. 62
36259012 2022
26
Myxedema coma following rifampicin - A clinical case and literature review. 62
36371351 2022
27
A case of fatal myxedema coma with electrocardiogram Osborne J-wave in a patient initially diagnosed with hypothyroidism. 62
35400676 2022
28
Utility of myxedema score as a predictor of mortality in myxedema coma. 62
35945394 2022
29
[A man with a low voice]. 62
36300445 2022
30
Endocrine Emergencies in the Medical Intensive Care Unit. 62
35617093 2022
31
Atrophic Autoimmune Thyroiditis Complicated with Systemic Lupus Erythematosus. 62
35801853 2022
32
Myxedema coma: Recognition and treatment. 62
35752902 2022
33
A Very Uncommon Case of Myxedema Coma: Rediscovery of an Old Presentation. 62
36017275 2022
34
De Novo Appearance of Pre-Tibial Myxedema After Radioactive Iodine Therapy for Graves' Disease. 62
36185954 2022
35
Myxedema Coma Precipitated by Iohexol: Case Report and Brief Literature Review on the Wolff-Chaikoff Effect. 62
35180827 2022
36
A unique case of concurrent cutaneous lichen amyloidosis and myxedema. 62
36259802 2022
37
Subclinical Hypothyroidism Presenting as Myxedema Coma: Case Report and Literature Review. 62
35795505 2022
38
Localized myxedema histologically mimicking spindle cell lipoma. 62
36259806 2022
39
Systematic review of COVID-19 and autoimmune thyroiditis. 62
35307540 2022
40
Myxedema Secondary to Levothyroxine Malabsorption in Newly Diagnosed Celiac Disease. 62
35783876 2022
41
Elephantiasic Pretibial Myxedema. 62
33657829 2022
42
Initial treatment of myxedema coma using oral levothyroxine: a case report from Tanzania. 62
35466083 2022
43
New-Onset Hypothyroidism Manifesting As Myxedema Coma: Fighting an Old Enemy. 62
35530928 2022
44
Examining Health Outcomes in Juvenile Idiopathic Arthritis: A Genetic Epidemiology Study. 62
35077020 2022
45
Thyroid and Parathyroid Conditions: Hypothyroidism. 62
35235282 2022
46
A Patient with Recurrent Myxedema Coma: What Was the Missing Link? 62
34597614 2022
47
Thyroid Disease and Hepatocellular Carcinoma Survival: A Danish Nationwide Cohort Study. 62
35528746 2022
48
Treatment of Elephantiasic Pretibial Myxedema With Rituximab Therapy. 62
35659798 2022
49
Myxedema crisis and ovarian hyperstimulation in a child with Down syndrome. 62
34547195 2022
50
History of the Thyroid. 62
36446327 2022

Variations for Myxedema

Expression for Myxedema

Search GEO for disease gene expression data for Myxedema.

Pathways for Myxedema

GO Terms for Myxedema

Cellular components related to Myxedema according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.6 TSHB TPO TG SERPINA7 POMC NPPA

Biological processes related to Myxedema according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.32 TSHR TSHB POMC INS AVP
2 hormone biosynthetic process GO:0042446 9.26 TPO TG

Molecular functions related to Myxedema according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.36 TSHB TG POMC NPPA INS AVP
2 protein-hormone receptor activity GO:0016500 9.13 TSHR LGR6

Sources for Myxedema

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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