Aliases & Classifications for Myxedema

MalaCards integrated aliases for Myxedema:

Name: Myxedema 56 12 74 54 43 15 17 71

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive, sex-influenced
environmental factors not excluded


HPO:

31
myxedema:
Inheritance autosomal recessive inheritance


Classifications:



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 Allograft rejection and Aldosterone synthesis and secretion. The drugs Methimazole and rituximab have been mentioned in the context of this disorder. Affiliated tissues include thyroid, heart and pituitary, and related phenotypes are hypothyroidism and muscle weakness

Wikipedia : 74 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 338)
# Related Disease Score Top Affiliating Genes
1 congenital hypothyroidism 31.8 TSHR TPO TG SERPINA7
2 graves' disease 31.6 TSHR TPO TG SERPINA7 CTLA4
3 exophthalmos 31.0 TSHR TPO TG
4 pericardial effusion 30.9 PIK3C2A NPPA MUC16
5 athyreosis 30.4 TSHR TG
6 sheehan syndrome 30.4 POMC AVP
7 thyroid carcinoma 30.3 TSHR TPO TG
8 goiter 30.1 TSHR TPO TG SERPINA7
9 hashimoto thyroiditis 30.0 TSHR TPO TG CTLA4
10 orbital disease 30.0 TSHR TG
11 thyroiditis 30.0 TSHR TPO TG SERPINA7 CTLA4
12 pernicious anemia 29.9 TPO TG
13 iodine hypothyroidism 29.8 TSHR TPO TG
14 multinodular goiter 29.8 TSHR TPO TG
15 inappropriate adh syndrome 29.8 POMC NPPA AVP
16 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.8 TSHR TPO TG CTLA4
17 diabetes insipidus 29.7 TG POMC AVP
18 diabetes mellitus, ketosis-prone 29.5 PIK3C2A CTLA4
19 hyperthyroidism 29.5 TSHR TPO TG SERPINA7 POMC CTLA4
20 hypothyroidism 29.3 TSHR TPO TG SERPINA7 POMC PIK3C2A
21 thyroid crisis 29.1 TSHR TPO TG SERPINA7
22 euthyroid sick syndrome 29.0 TG SERPINA7 POMC
23 nontoxic goiter 28.9 TSHR TPO TG SERPINA7
24 subacute thyroiditis 28.9 TSHR TPO TG SERPINA7
25 hypothyroidism, congenital, nongoitrous, 2 28.9 TSHR TPO TG SERPINA7
26 graves disease 1 28.8 TSHR TPO TG SERPINA7 SEM1 POMC
27 diabetes mellitus, type i 28.7 TSHR TPO TG POMC NPPA CTLA4
28 acute thyroiditis 28.7 TPO TG SERPINA7 POMC
29 thyroid gland disease 27.5 TSHR TPO TG SERPINA7 SEM1 POMC
30 autoimmune polyendocrine syndrome, type ii 11.7
31 hyperthyroidism, nonautoimmune 11.3
32 nodular lichen myxedematosus 11.2
33 ocular motor apraxia 10.9
34 hemopericardium 10.5
35 diabetes mellitus 10.4
36 heart disease 10.4
37 chronic orbital inflammation 10.4 TSHR CTLA4
38 transient congenital hypothyroidism 10.4 TSHR TPO
39 hashimoto encephalopathy 10.4 TSHR TPO
40 neonatal thyrotoxicosis 10.3 TSHR TG
41 senile ectropion 10.3 TSHR MUC16
42 papillary thyroid microcarcinoma 10.3 TSHR TG
43 myopathy 10.3
44 orbital plasma cell granuloma 10.3 PIK3C2A CTLA4
45 mechanical strabismus 10.3 TPO TG
46 respiratory failure 10.3
47 hypothyroidism, congenital, nongoitrous, 1 10.3 TSHR TG
48 familial thyroid dyshormonogenesis 10.3 TPO TG
49 nonencapsulated sclerosing carcinoma 10.3 TPO TG
50 elephantiasis 10.3

Graphical network of the top 20 diseases related to Myxedema:



Diseases related to Myxedema

Symptoms & Phenotypes for Myxedema

Human phenotypes related to Myxedema:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 31 HP:0000821
2 muscle weakness 31 HP:0001324
3 fatigue 31 HP:0012378
4 dry skin 31 HP:0000958
5 memory impairment 31 HP:0002354
6 hypohidrosis 31 HP:0000966
7 easy fatigability 31 HP:0003388
8 constipation 31 HP:0002019
9 paresthesia 31 HP:0003401
10 hoarse voice 31 HP:0001609
11 goiter 31 HP:0000853
12 lethargy 31 HP:0001254
13 muscle spasm 31 HP:0003394
14 increased thyroid-stimulating hormone level 31 HP:0002925

Symptoms via clinical synopsis from OMIM:

56
Endocrine:
hypothyroidism

G I:
constipation

Neuro:
paresthesias
decreased memory

Voice:
husky

Misc:
fatigue
lethargy
weakness
cold intolerance
thyrotoxicosis in relatives
more
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

Drugs & Therapeutics for Myxedema

Drugs for Myxedema (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methimazole Approved Phase 1, Phase 2 60-56-0 1349907
2
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
3 Immunoglobulins Phase 1, Phase 2
4 Immunologic Factors Phase 1, Phase 2
5 Antibodies Phase 1, Phase 2
6 Antithyroid Agents Phase 1, Phase 2
7 Hormone Antagonists Phase 1, Phase 2
8 Vaccines Phase 1, Phase 2
9 Hormones Phase 1, Phase 2
10 Antibodies, Monoclonal Phase 1, Phase 2
11 Antirheumatic Agents Phase 1, Phase 2
12 Antineoplastic Agents, Immunological Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 B Cell Depletion With the Anti-CD20 Monoclonal Antibody Rituximab in the Treatment of Graves' Disease Completed NCT00150111 Phase 1, Phase 2 Methimazole;Rituximab
2 SmartPill Monitoring for Assessment of GI Function in SCI Completed NCT00856648

Search 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

MalaCards organs/tissues related to Myxedema:

40
Thyroid, Heart, Pituitary, Skin, Testes, Bone, Colon

Publications for Myxedema

Articles related to Myxedema:

(show top 50) (show all 2021)
# Title Authors PMID Year
1
Status of anti-thyroid peroxidase during normal pregnancy and in patients with hyperemesis gravidarum. 54 61
16756470 2006
2
Thyrotropin receptor antibodies: new insights into their actions and clinical relevance. 61 54
15826921 2005
3
Pretibial myxedema: pathophysiology and treatment options. 54 61
16252929 2005
4
Thyrotropin receptor autoantibodies (TSHRAbs): epitopes, origins and clinical significance. 54 61
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. 54 61
12668683 2003
6
Hashimoto's thyroiditis with heterogeneous antithyrotropin receptor antibodies: unique epitopes may contribute to the regulation of thyroid function by the antibodies. 54 61
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. 61 54
9398703 1997
8
Recombinant human TSH receptor expressed in E. coli. 54 61
9247724 1997
9
Experimental autoimmunity to thyrotropin receptor. 54 61
8986417 1996
10
Bispecific thyroglobulin and thyroperoxidase autoantibodies in patients with various thyroid and autoimmune diseases. 61 54
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. 61 54
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. 61 54
8100829 1993
13
Identification of thyroid-stimulating antibody-specific interaction sites in the N-terminal region of the thyrotropin receptor. 54 61
8095322 1993
14
[Results of high-dose intravenous immunoglobulin treatment of patients with pretibial myxedema and Basedow's disease. Preliminary findings]. 61 54
1281765 1992
15
Interactions between the immune system and the thyroid. Regulatory networks in health and disease. 54 61
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. 54 61
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. 54 61
1719963 1991
18
Periorbital myxedema treated with intralesional hyaluronidase. 61
32490285 2020
19
Enteric Fever Precipitating Myxedema Crisis. 61
32394158 2020
20
A rare case of myxedema ascites and uncommon complication of ischemic colitis. 61
32527603 2020
21
Diagnosis and treatment of hypothyroidism in old people : A new old challenge. 61
31773270 2020
22
Myxedema Coma in a Pediatric Patient with Down Syndrome. 61
31984162 2020
23
Graves' disease: Clinical manifestations, immune pathogenesis (cytokines and chemokines) and therapy. 61
32059832 2020
24
Pancreatic Extracts for the Treatment of Diabetes (1889-1914): Acomatol. 61
31599767 2020
25
Elephantiasic Pretibial Myxedema with Graves' Disease: Spontaneously Induced and Dramatically Resolved after Radioiodine Treatment. 61
32071903 2020
26
A Case Report from the Ancient Past. 61
31860634 2019
27
Thyroid gland and brain: Enigma of Hashimoto's encephalopathy. 61
31801687 2019
28
Successful therapeutic approach in patient with elephantiasic pretibial myxedema. 61
32461007 2019
29
Acute psychosis and concurrent rhabdomyolysis unveiling diagnosis of hypothyroidism. 61
31586959 2019
30
Successful Treatment of Scalp Myxedema with Injected Hyaluronidase: A Case Report. 61
32232032 2019
31
Myxedema coma accompanied by sick sinus syndrome and hypoventilation: A case report. 61
31516809 2019
32
Severe pretibial myxedema refractory to systemic immunosuppressants. 61
31675401 2019
33
Thyroid emergencies. 61
31237256 2019
34
Postoperative myxedema coma in patients undergoing major surgery: Case series. 61
30454972 2019
35
Amiodarone and thyroid physiology, pathophysiology, diagnosis and management. 61
30309693 2019
36
Initial low-dose oral levothyroxine in a child with Down syndrome, myxedema, and cardiogenic shock. 61
31360469 2019
37
[Pretibial myxedema: pathogenetic features and clinical aspects]. 61
31271716 2019
38
Untreated primary hypothyroidism with simultaneous rhabdomyolysis, pericardial effusion, and sudden sensorineural hearing loss: a case report. 61
31113413 2019
39
Pretibial myxedema. 61
30337109 2019
40
Successful treatment of myxedema coma with a combination of levothyroxine and liothyronine. 61
30853666 2019
41
Clinical Experience with Rituximab and Intravenous Immunoglobulin for Pretibial Myxedema: A Case Series. 61
30854936 2019
42
Abdominal compartment syndrome secondary to myxedema ileus. 61
32269959 2019
43
Thyroxine-Induced Preradial Myxedema. 61
30984592 2019
44
Myxedema Coma, Pancytopenia, and Hypocoagulopathy: A Rare Presentation of Sheehan's Syndrome. 61
31161117 2019
45
Myxedema coma precipitated by diabetic ketoacidosis after total thyroidectomy: a case report. 61
30827279 2019
46
Critical Consideration of Myxedema Coma in the Postoperative Setting: A Case Report. 61
30169383 2019
47
Electrosurgical debulking of pretibial myxedema of the foot. 61
30865416 2019
48
Angioedema and emergency medicine: From pathophysiology to diagnosis and treatment. 61
30220453 2019
49
The Swinging Pendulum in Treatment for Hypothyroidism: From (and Toward?) Combination Therapy. 61
31354624 2019
50
A Case of Violent Suicide Attempt in a Context of Myxedema Psychosis following Radioiodine Treatment in a Patient with Graves' Disease. 61
30729057 2019

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 9.17 TPO TG SERPINA7 POMC NPPA MUC16
2 vesicle GO:0031982 9.13 PIK3C2A MUC16 LGR6

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

# Name GO ID Score Top Affiliating Genes
1 thyroid hormone generation GO:0006590 8.96 TPO TG
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 protein-hormone receptor activity GO:0016500 8.96 TSHR LGR6
3 hormone activity GO:0005179 8.92 TG POMC NPPA AVP

Sources for Myxedema

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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