Aliases & Classifications for Myxedema

MalaCards integrated aliases for Myxedema:

Name: Myxedema 57 12 75 55 44 15 17 72

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive, sex-influenced
environmental factors not excluded


HPO:

32
myxedema:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:11634
OMIM 57 255900
MeSH 44 D009230
NCIt 50 C34834
SNOMED-CT 68 43153006
ICD10 33 E03.9
MedGen 42 C0027145
UMLS 72 C0027145

Summaries for Myxedema

MalaCards based summary : Myxedema is related to congenital hypothyroidism and graves' disease. An important gene associated with Myxedema is TSHR (Thyroid Stimulating Hormone Receptor), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Allograft rejection. Affiliated tissues include thyroid, heart and pituitary, and related phenotypes are hypothyroidism and muscle weakness

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 312)
# Related Disease Score Top Affiliating Genes
1 congenital hypothyroidism 31.8 TSHR TPO TG
2 graves' disease 31.3 TSHR TPO TG CTLA4
3 exophthalmos 30.5 TSHR TG
4 pericardial effusion 30.4 NPPA MUC16
5 goiter 30.1 TSHR TPO TG
6 graves disease 1 30.0 TSHR TPO TG
7 hypothyroidism 30.0 TSHR TPO TG CTLA4
8 syndrome of inappropriate antidiuretic hormone 29.8 NPPA AVP
9 athyreosis 29.8 TSHR TG
10 hyperthyroidism 29.7 TSHR TPO TG CTLA4
11 thyroiditis 29.7 TSHR TPO TG CTLA4
12 thyroid gland disease 29.6 TSHR TPO TG
13 pernicious anemia 29.5 TPO TG
14 hypothyroidism, congenital, nongoitrous, 2 29.5 TSHR TG
15 hypothyroidism, congenital, nongoitrous, 4 29.3 TPO TG
16 nontoxic goiter 28.9 TSHR TPO TG
17 subacute thyroiditis 28.9 TSHR TPO TG
18 multinodular goiter 28.9 TSHR TPO TG
19 hashimoto thyroiditis 28.8 TSHR TPO TG CTLA4
20 diabetes mellitus, insulin-dependent 28.7 TPO TG CTLA4
21 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 28.5 TSHR TPO TG CTLA4
22 autoimmune polyendocrine syndrome, type ii 11.7
23 megaloblastic anemia 1 11.2
24 hyperthyroidism, nonautoimmune 11.2
25 nodular lichen myxedematosus 11.2
26 ocular motor apraxia 10.9
27 hemopericardium 10.5
28 diabetes mellitus 10.4
29 heart disease 10.4
30 orbital plasma cell granuloma 10.3 TSHR CTLA4
31 myopathy 10.3
32 hashimoto encephalopathy 10.3 TSHR TPO
33 chronic orbital inflammation 10.3 TSHR CTLA4
34 hydrops, lactic acidosis, and sideroblastic anemia 10.2
35 respiratory failure 10.2
36 elephantiasis 10.2
37 deficiency anemia 10.2
38 cardiac tamponade 10.2
39 ataxia and polyneuropathy, adult-onset 10.2
40 ileus 10.2
41 cardiogenic shock 10.2
42 congestive heart failure 10.2
43 adenoma 10.2
44 hypopituitarism 10.2
45 hyperthyroxinemia 10.2 TSHR TPO
46 megacolon 10.1
47 encephalopathy 10.1
48 myotonia 10.1
49 hypercholesterolemia, familial, 1 10.1
50 myasthenia gravis 10.1

Graphical network of the top 20 diseases related to Myxedema:



Diseases related to Myxedema

Symptoms & Phenotypes for Myxedema

Human phenotypes related to Myxedema:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 32 HP:0000821
2 muscle weakness 32 HP:0001324
3 constipation 32 HP:0002019
4 fatigue 32 HP:0012378
5 dry skin 32 HP:0000958
6 memory impairment 32 HP:0002354
7 hypohidrosis 32 HP:0000966
8 goiter 32 HP:0000853
9 paresthesia 32 HP:0003401
10 easy fatigability 32 HP:0003388
11 hoarse voice 32 HP:0001609
12 lethargy 32 HP:0001254
13 increased thyroid-stimulating hormone level 32 HP:0002925
14 muscle spasm 32 HP:0003394

Symptoms via clinical synopsis from OMIM:

57
Endocrine:
hypothyroidism

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

Lab:
high tsh
low free t4

G I:
constipation

Muscle:
muscle cramps

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

Voice:
husky

Clinical features from OMIM:

255900

Drugs & Therapeutics for Myxedema

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 SmartPill Monitoring for Assessment of GI Function in SCI Completed NCT00856648

Search NIH Clinical Center for Myxedema

Inferred drug relations via UMLS 72 / NDF-RT 51 :


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

Cochrane evidence based reviews: myxedema

Genetic Tests for Myxedema

Anatomical Context for Myxedema

MalaCards organs/tissues related to Myxedema:

41
Thyroid, Heart, Pituitary, Skin, Testes, Bone, Colon

Publications for Myxedema

Articles related to Myxedema:

(show top 50) (show all 2003)
# Title Authors PMID Year
1
Status of anti-thyroid peroxidase during normal pregnancy and in patients with hyperemesis gravidarum. 9 38
16756470 2006
2
Thyrotropin receptor antibodies: new insights into their actions and clinical relevance. 9 38
15826921 2005
3
Pretibial myxedema: pathophysiology and treatment options. 9 38
16252929 2005
4
Thyrotropin receptor autoantibodies (TSHRAbs): epitopes, origins and clinical significance. 9 38
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. 9 38
12668683 2003
6
Hashimoto's thyroiditis with heterogeneous antithyrotropin receptor antibodies: unique epitopes may contribute to the regulation of thyroid function by the antibodies. 9 38
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. 9 38
9398703 1997
8
Recombinant human TSH receptor expressed in E. coli. 9 38
9247724 1997
9
Experimental autoimmunity to thyrotropin receptor. 9 38
8986417 1996
10
Bispecific thyroglobulin and thyroperoxidase autoantibodies in patients with various thyroid and autoimmune diseases. 9 38
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. 9 38
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. 9 38
8100829 1993
13
Identification of thyroid-stimulating antibody-specific interaction sites in the N-terminal region of the thyrotropin receptor. 9 38
8095322 1993
14
[Results of high-dose intravenous immunoglobulin treatment of patients with pretibial myxedema and Basedow's disease. Preliminary findings]. 9 38
1281765 1992
15
Interactions between the immune system and the thyroid. Regulatory networks in health and disease. 9 38
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. 9 38
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. 9 38
1719963 1991
18
Postoperative myxedema coma in patients undergoing major surgery: Case series. 38
30454972 2019
19
Initial low-dose oral levothyroxine in a child with Down syndrome, myxedema, and cardiogenic shock. 38
31360469 2019
20
Amiodarone and thyroid physiology, pathophysiology, diagnosis and management. 38
30309693 2019
21
[Pretibial myxedema: pathogenetic features and clinical aspects]. 38
31271716 2019
22
Thyroid emergencies. 38
31237256 2019
23
Pretibial myxedema. 38
30337109 2019
24
Clinical Experience with Rituximab and Intravenous Immunoglobulin for Pretibial Myxedema: A Case Series. 38
30854936 2019
25
Successful treatment of myxedema coma with a combination of levothyroxine and liothyronine. 38
30853666 2019
26
Untreated primary hypothyroidism with simultaneous rhabdomyolysis, pericardial effusion, and sudden sensorineural hearing loss: a case report. 38
31113413 2019
27
Myxedema Coma, Pancytopenia, and Hypocoagulopathy: A Rare Presentation of Sheehan's Syndrome. 38
31161117 2019
28
Myxedema coma precipitated by diabetic ketoacidosis after total thyroidectomy: a case report. 38
30827279 2019
29
Thyroxine-Induced Preradial Myxedema. 38
30984592 2019
30
Electrosurgical debulking of pretibial myxedema of the foot. 38
30865416 2019
31
Critical Consideration of Myxedema Coma in the Postoperative Setting: A Case Report. 38
30169383 2019
32
Myxedema Heart Disease: A Rare Disease Entity: Case Report and Brief Review of the Literature. 38
30277162 2019
33
Mechanical Circulatory Support in Management of Cardiogenic Shock and Myxedema Coma. 38
30956822 2019
34
Hypothyroidism as a Predictor of Surgical Outcomes in the Elderly. 38
31068905 2019
35
Myxedema Coma Complicated by Pancytopenia. 38
31396281 2019
36
The Swinging Pendulum in Treatment for Hypothyroidism: From (and Toward?) Combination Therapy. 38
31354624 2019
37
Angioedema and emergency medicine: From pathophysiology to diagnosis and treatment. 38
30220453 2019
38
A Case of Violent Suicide Attempt in a Context of Myxedema Psychosis following Radioiodine Treatment in a Patient with Graves' Disease. 38
30729057 2019
39
Myxedema Coma Following the Administration of Gonadotropin-releasing Hormone Agonist Complicated by Acute Pancreatitis. 38
29877268 2018
40
Response to topical halcinonide following fractional carbon dioxide laser pretreatment in a pretibial myxedema patient. 38
29363626 2018
41
Intralesional and topical glucocorticoids for pretibial myxedema: A case report and review of literature. 38
30510955 2018
42
Thyroid dermopathy and acropachy in pediatric patients. 38
30187962 2018
43
Pretibial myxedema successfully treated with intralesional hyaluronidase. 38
30306115 2018
44
Comatose patient with hypothermia, dyspnea, and general edema in the emergency department: a case report. 38
30111206 2018
45
Das Myxödemherz: The Myxedema Heart Herman Zondek 1887-1979. 38
30152719 2018
46
Amiodarone induced myxedema coma: Two case reports and literature review. 38
29793782 2018
47
Thyrotropin Receptor Antibodies-An Overview. 38
29771756 2018
48
Effects of Long-Term Combination LT4 and LT3 Therapy for Improving Hypothyroidism and Overall Quality of Life. 38
29863229 2018
49
[A man who was unable to open his eyes]. 38
30040260 2018
50
Myxedema Ascites: An Unusual Presentation of Uncontrolled Hypothyroidism. 38
30027019 2018

Variations for Myxedema

Expression for Myxedema

Search GEO for disease gene expression data for Myxedema.

Pathways for Myxedema

GO Terms for Myxedema

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

# Name GO ID Score Top Affiliating Genes
1 regulation of blood vessel size GO:0050880 8.96 NPPA AVP
2 hormone biosynthetic process GO:0042446 8.62 TPO TG

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

# Name GO ID Score Top Affiliating Genes
1 neuropeptide hormone activity GO:0005184 9.16 NPPA AVP
2 hormone activity GO:0005179 9.13 TG NPPA AVP
3 protein-hormone receptor activity GO:0016500 8.62 TSHR LGR6

Sources for Myxedema

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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