MCID: GRV008
MIFTS: 52

Graves Disease 1

Categories: Endocrine diseases, Immune diseases, Rare diseases

Aliases & Classifications for Graves Disease 1

MalaCards integrated aliases for Graves Disease 1:

Name: Graves Disease 1 53
Thyrotoxicosis 53 12 41 14 69
Graves Disease, Susceptibility to, 1 53 13
Hyperthyroidism, Autoimmune 53
Grd1 53
Grd 53

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive vs. dominant with relative sex limitation to females and reduced penetrance postulated, but more likely multifactorial


Classifications:



Summaries for Graves Disease 1

OMIM : 53 Graves disease is an autoimmune disorder in which antibodies to the thyrotropin receptor (TSHR; 603372) result in constitutive activation of the receptor and increased levels of thyroid hormone. Wilkin (1990) reviewed endocrine disorders of hormone excess and hormone deficiency resulting from receptor autoimmunity. (275000)

MalaCards based summary : Graves Disease 1, also known as thyrotoxicosis, is related to neonatal thyrotoxicosis and thyrotoxic periodic paralysis, and has symptoms including muscle weakness, hyperhidrosis and hyperreflexia. An important gene associated with Graves Disease 1 is GRD1 (Graves Disease, Susceptiblity To, 1), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Thyroid hormone signaling pathway. Affiliated tissues include thyroid and heart, and related phenotypes are growth/size/body region and homeostasis/metabolism

Disease Ontology : 12 A thyroid gland disease that is characterized by excess thyroid hormone.

Related Diseases for Graves Disease 1

Diseases in the Graves' Disease family:

Graves Disease 1 Graves Disease 2

Diseases related to Graves Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 neonatal thyrotoxicosis 33.8 TSHR TXNRD2
2 thyrotoxic periodic paralysis 32.4 CACNA1S TSHR
3 subacute thyroiditis 31.7 SERPINA7 TG TPO TSHR
4 hypokalemic periodic paralysis, type 1 31.2 CACNA1S SCN4A
5 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.2 TG TPO TSHR
6 graves' disease 29.9 DIO2 GRD1 SERPINA7 TG THRB TPO
7 hashimoto thyroiditis 29.6 TG TPO TSHR
8 hyperthyroidism 28.9 SERPINA7 TG THRB TPO TRH TSHR
9 mccune-albright syndrome 11.2
10 stiff-person syndrome 10.9
11 benign struma ovarii 10.4 TG TSHR
12 athyreosis 10.4 TG TSHR
13 dyshormonogenic goiter 10.4 SERPINA7 TG
14 struma ovarii 10.4 TG TSHR
15 postsurgical hypothyroidism 10.3 TG TRH
16 familial thyroid dyshormonogenesis 10.3 TG TPO
17 subacute lymphocytic thyroiditis 10.3 TG TPO
18 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.3 TG TPO
19 papillary thyroid microcarcinoma 10.3 TG TSHR
20 exophthalmos 10.3 TG TSHR
21 premature menopause 10.2 TG TPO
22 hypothyroidism, congenital, nongoitrous, 4 10.2 TG TPO
23 hypothyroidism, congenital, nongoitrous, 2 10.2 SERPINA7 TG TSHR
24 pernicious anemia 10.2 TG TPO
25 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.2 TG TPO
26 neonatal hypothyroidism 10.1 TG TPO TSHR
27 myxedema 10.1 TG TPO TSHR
28 nodular goiter 10.1 TG TPO TSHR
29 multinodular goiter 10.1 TG TPO TSHR
30 follicular adenoma 10.1 TG TPO TSHR
31 congenital hypothyroidism 10.1 TG TPO TSHR
32 hypersensitivity reaction disease 10.1 TG TPO TSHR
33 papillary carcinoma 10.1 TG TPO TSHR
34 differentiated thyroid carcinoma 10.1 TG TPO TSHR
35 plummer's disease 10.1 TG THRB TPO
36 chromophobe adenoma 10.1 SERPINA7 TRH
37 periodic paralyses 10.1 CACNA1S SCN4A
38 generalized resistance to thyroid hormone 10.1 THRB TRH TXNRD2
39 hyperkalemic periodic paralysis 10.0 CACNA1S SCN4A
40 thyroid cancer, nonmedullary, 1 10.0 TG TPO TSHR
41 familial periodic paralysis 10.0 CACNA1S SCN4A
42 endocrine organ benign neoplasm 10.0 TG TRH
43 malignant hyperthermia susceptibility 10.0 CACNA1S SCN4A
44 euthyroid sick syndrome 10.0 DIO2 SERPINA7
45 endemic goiter 9.9 SERPINA7 TG TPO TSHR
46 nontoxic goiter 9.9 SERPINA7 TG TPO TSHR
47 autoimmune disease of endocrine system 9.9 SERPINA7 TG TPO TSHR
48 metal metabolism disorder 9.8 CACNA1S SCN4A
49 hyperthyroxinemia 9.8 SERPINA7 TPO TRH TSHR
50 thyroid hormone resistance, generalized, autosomal dominant 9.6 SERPINA7 TG THRB TRH TXNRD2

Graphical network of the top 20 diseases related to Graves Disease 1:



Diseases related to Graves Disease 1

Symptoms & Phenotypes for Graves Disease 1

Symptoms via clinical synopsis from OMIM:

53
Skin:
increased sweating
pretibial myxedema

Misc:
nervousness
irritability
weight loss
hyperactivity
hyperpyrexia

Neck:
goiter

Endocrine:
thyrotoxicosis

GI:
increased appetite
gi hypermotility

Lab:
high t4 and t3
high rai
low serum tsh

Muscle:
muscle weakness

Neuro:
hyperreflexia

Eyes:
exophthalmos

Nails:
oncholysis

Cardiac:
high output congestive heart failure


Clinical features from OMIM:

275000

Human phenotypes related to Graves Disease 1:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 hyperhidrosis 31 HP:0000975
3 hyperreflexia 31 HP:0001347
4 abnormality of metabolism/homeostasis 31 HP:0001939
5 irritability 31 HP:0000737
6 weight loss 31 HP:0001824
7 congestive heart failure 31 HP:0001635
8 goiter 31 HP:0000853
9 proptosis 31 HP:0000520
10 polyphagia 31 HP:0002591
11 hyperactivity 31 HP:0000752
12 graves disease 31 HP:0100647
13 onycholysis 31 HP:0001806
14 pretibial myxedema 31 HP:0200028
15 abnormality of abdomen morphology 31 HP:0001438

MGI Mouse Phenotypes related to Graves Disease 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.56 THRB TPO TRH TSHR CACNA1S DIO2
2 homeostasis/metabolism MP:0005376 9.32 CACNA1S DIO2 SCN4A SLC16A2 TG THRB

Drugs & Therapeutics for Graves Disease 1

Genetic Tests for Graves Disease 1

Anatomical Context for Graves Disease 1

MalaCards organs/tissues related to Graves Disease 1:

38
Thyroid, Heart

Publications for Graves Disease 1

Articles related to Graves Disease 1:

(show top 50) (show all 739)
# Title Authors Year
1
Neonatal Thyrotoxicosis. ( 29406005 )
2018
2
Maternal Thyrotropin Receptor Antibody Concentration and the Risk of Fetal and Neonatal Thyrotoxicosis: A Systematic Review. ( 29325496 )
2018
3
Ophthalmoplegia due to concurrent thyrotoxicosis and myasthenia gravis. ( 29398296 )
2017
4
Serum Free T3 to Free T4 Ratio as a Useful Indicator for Differentiating Destruction Induced Thyrotoxicosis from Graves' Disease. ( 28892954 )
2017
5
Successful Antifungal Combination Therapy and Surgical Approach for Aspergillus fumigatus Suppurative Thyroiditis Associated with Thyrotoxicosis and Review of Published Reports. ( 28555254 )
2017
6
18F-FDG PET/CT imaging of atypical subacute thyroiditis in thyrotoxicosis: A case report. ( 28746199 )
2017
7
Using plasma exchange to successfully manage thyrotoxicosis in a patient with possible antithyroid drug-related thrombotic thrombocytopenic purpura. ( 28858843 )
2017
8
Thyrotoxicosis and Choledocholithiasis Masquerading as Thyroid Storm. ( 28912821 )
2017
9
An Unusual Case of Malignant Struma Ovarii Causing Thyrotoxicosis. ( 27843812 )
2016
10
2016 American Thyroid Association Guidelines for Diagnosis and Management of Hyperthyroidism and other causes of Thyrotoxicosis. ( 27521067 )
2016
11
Life Threatening Complication of Self-made Remedy for Controlling High Blood Pressure-Coronary Artery Vasospasm Associated with Iatrogenic Thyrotoxicosis. ( 27826349 )
2016
12
A case of suppurative thyroiditis caused by Salmonella presented with thyrotoxicosis. ( 27080802 )
2016
13
Fetal/neonatal Thyrotoxicosis in a Newborn From a Hypothyroid Woman With Hashimoto's Thyroiditis. ( 27813690 )
2016
14
Topical Iodine-Induced Thyrotoxicosis in a Newborn with a Giant Omphalocele. ( 27551578 )
2016
15
A Case of Type 2 Amiodarone-Induced Thyrotoxicosis That Underwent Total Thyroidectomy under High-Dose Steroid Administration. ( 25664188 )
2015
16
Unusual etiology of secondary thyrotoxicosis and its presentation. ( 25839024 )
2015
17
A novel melanoma therapy stirs up a storm: ipilimumab-induced thyrotoxicosis. ( 25759760 )
2015
18
The Occurrence of Graves' Disease (Autoimmune Thyrotoxicosis) in Endocrinologists at the Mount Sinai Hospital in New York City from 1954 to 2011. ( 25667366 )
2015
19
Iatrogenic thyrotoxicosis secondary to compounded liothyronine. ( 25762821 )
2015
20
Severe hyperemesis gravidarum associated with gestational thyrotoxicosis and acute biliary pancreatitis. ( 25758559 )
2015
21
Serum human chorionic gonadotropin levels and thyroid hormone levels in gestational transient thyrotoxicosis: Is the serum hCG level useful for differentiating between active Graves' disease and GTT? ( 25819223 )
2015
22
Race/ethnicity and the prevalence of thyrotoxicosis in young Americans. ( 25744381 )
2015
23
Echocardiographic assessment of left ventricular function in thyrotoxicosis and implications for the therapeutics of thyrotoxic cardiac disease. ( 25709461 )
2015
24
Neonatal thyrotoxicosis caused by maternal autoimmune hyperthyroidism. ( 25750228 )
2015
25
Experimentally induced thyrotoxicosis leads to increased connectivity in temporal lobe structures: A resting state fMRI study. ( 25808701 )
2015
26
High-Output Heart Failure Caused by Thyrotoxicosis and Beriberi. ( 26567494 )
2015
27
Polyneuritis cranialis with generalized hyperreflexia as a presenting manifestation of thyrotoxicosis. ( 26019429 )
2015
28
Utility of plasma fibrinogen in the differential diagnosis of thyrotoxicosis. ( 25785116 )
2015
29
Gestational Thyrotoxicosis, Antithyroid Drug Use and Neonatal Outcomes Within an Integrated Healthcare Delivery System. ( 25747892 )
2015
30
Hypokalemic paralysis due to thyrotoxicosis accompanied by Gitelman's syndrome. ( 25838649 )
2015
31
Differentiation of Postpartum Graves' Thyrotoxicosis from Postpartum Destructive Thyrotoxicosis by Anti-TSH Receptor Antibodies and Thyroid Blood Flow. ( 24400892 )
2014
32
Radioiodine therapy in patients with type II amiodarone-induced thyrotoxicosis. ( 25394637 )
2014
33
Lithium-induced thyrotoxicosis in a patient with treatment-resistant bipolar type I affective disorder. ( 25358581 )
2014
34
Slow carbamazepine clearance in a nonadherent malay woman with epilepsy and thyrotoxicosis. ( 24342894 )
2014
35
An unusual case of hypopituitarism and transient thyrotoxicosis following asymptomatic pituitary apoplexy. ( 25275254 )
2014
36
Transient thyrotoxicosis following minimally invasive radio-guided parathyroidectomy. ( 24013987 )
2014
37
Thyrotoxicosis of Pregnancy. ( 25243108 )
2014
38
Effects of short-term potassium iodide treatment for thyrotoxicosis due to Graves disease in children and adolescents. ( 25654065 )
2014
39
Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis. ( 24849934 )
2014
40
Immunoexpressions of embryonic and nonembryonic stem cell markers (Nanog, Thy-1, c-kit) and cellular connections (connexin 43 and occludin) on testicular tissue in thyrotoxicosis rat model. ( 25304966 )
2014
41
Prevalence of amiodarone-induced thyrotoxicosis and associated risk factors in Japanese patients. ( 25053942 )
2014
42
A Case of Gestational Thyrotoxicosis Associated with Wernicke's Encephalopathy. ( 25148818 )
2014
43
Thyrotoxicosis followed by Hypothyroidism due to Suppurative Thyroiditis Caused by Nocardia brasiliensis in a Patient with Advanced Acquired Immunodeficiency Syndrome. ( 24847469 )
2014
44
Clinical analysis of 65 cases of hyperemesis gravidarum with gestational transient thyrotoxicosis. ( 24888917 )
2014
45
Polymorphisms of I^ 1-adrenoreceptor gene and cardiovascular complications in patients with thyrotoxicosis. ( 24982877 )
2014
46
A 27-year-old woman presenting with refractory hypoxaemic respiratory failure, haemoptysis and thyrotoxicosis: a rare manifestation of propylthiouracil therapy. ( 25150234 )
2014
47
Reactive oxygen species play a role in muscle wasting during thyrotoxicosis. ( 24842047 )
2014
48
A hitherto undescribed case of cerebellar ataxia as the sole presentation of thyrotoxicosis in a young man: a plausible association. ( 25827703 )
2014
49
Amiodarone-induced thyrotoxicosis in adults with congenital heart disease - clinical presentation and response to therapy. ( 24013980 )
2014
50
Amiodarone-induced thyrotoxicosis: type 1 or type 2? ( 25349184 )
2014

Variations for Graves Disease 1

Expression for Graves Disease 1

Search GEO for disease gene expression data for Graves Disease 1.

Pathways for Graves Disease 1

GO Terms for Graves Disease 1

Biological processes related to Graves Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone-mediated signaling pathway GO:0009755 9.37 TRH TSHR
2 membrane depolarization during action potential GO:0086010 9.32 CACNA1S SCN4A
3 thyroid hormone generation GO:0006590 9.26 DIO2 TPO
4 thyroid hormone transport GO:0070327 9.16 SERPINA7 SLC16A2
5 thyroid hormone metabolic process GO:0042403 8.96 DIO2 TG
6 hormone biosynthetic process GO:0042446 8.8 DIO2 TG TPO

Sources for Graves Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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