MCID: GRV008
MIFTS: 44

Graves Disease 1

Categories: Endocrine diseases, Rare diseases, Immune diseases

Aliases & Classifications for Graves Disease 1

MalaCards integrated aliases for Graves Disease 1:

Name: Graves Disease 1 54
Thyrotoxicosis 12 42 14 69
Graves Disease, Susceptibility to, 1 13

Characteristics:

OMIM:

54
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 : 54
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 hypokalemic periodic paralysis, type 1 and lymphoma, and has symptoms including hyperreflexia, irritability and proptosis. An important gene associated with Graves Disease 1 is GRD1 (Graves Disease, Susceptiblity To, 1), and among its related pathways/superpathways are Insulin secretion and Thyroid hormone signaling pathway. The drugs Propylthiouracil and Bimatoprost have been mentioned in the context of this disorder. Affiliated tissues include thyroid, eye 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 227)
id Related Disease Score Top Affiliating Genes
1 hypokalemic periodic paralysis, type 1 30.9 CACNA1S SCN4A
2 lymphoma 29.6 TG TPO TSHR
3 endemic goiter 29.5 SERPINA7 TG TPO TSHR
4 paramyotonia congenita 29.3 CACNA1S SCN4A
5 neonatal thyrotoxicosis 12.0
6 thyroid carcinoma with thyrotoxicosis 12.0
7 thyrotoxic periodic paralysis 11.4
8 subacute thyroiditis 11.1
9 mccune-albright syndrome, somatic, mosaic 10.8
10 stiff-person syndrome 10.8
11 chronic polyneuropathy 10.6 TG TSHR
12 kidney disease 10.6 TG TSHR
13 graves' disease 10.6
14 panhypophysitis 10.6 TG TSHR
15 hyperthyroidism 10.6
16 echinostomiasis 10.6 SERPINA7 TG
17 parachordoma 10.6 TG TSHR
18 adenohypophysitis 10.5 TG TPO
19 atheroembolism of kidney 10.5 TG TRH
20 maxillary sinus adenoid cystic carcinoma 10.5 TG TPO
21 potter's syndrome 10.5 TSHR TXNRD2
22 rhabdomyosarcoma, embryonal, 2 10.5 TG TPO
23 thyroiditis 10.5
24 iridocyclitis 10.4 TG TSHR
25 hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia 10.4 SERPINA7 TG TSHR
26 chronic frontal sinusitis 10.4 TG TPO
27 hypothyroidism, congenital, nongoitrous 4 10.4 TG TPO
28 color blindness 10.3 TG TPO
29 c5 deficiency 10.3 TG TPO
30 nephrogenic systemic fibrosis 10.3 TG TPO TSHR
31 conjunctival deposit 10.2 TG TPO TSHR
32 nodular prostate 10.2 TG TPO TSHR
33 combined cellular and humoral immune defects with granulomas 10.2 TG TPO TSHR
34 meningovascular neurosyphilis 10.2 TG TPO TSHR
35 bladder diffuse clear cell adenocarcinoma 10.2 TG TPO TSHR
36 primary bacterial infectious disease 10.2 TG TPO TSHR
37 gastrointestinal system cancer 10.2 TG TPO TSHR
38 tick paralysis 10.2 TG THRB TPO
39 chorea, hereditary benign 10.2 TG TPO TSHR
40 non-distal trisomy 10q 10.2 TG TPO TSHR
41 diencephalic neoplasm 10.2 SERPINA7 TRH
42 postinfectious encephalomyelitis 10.2 CACNA1S SCN4A
43 tibial hemimelia cleft lip palate 10.2 CACNA1S TSHR
44 diabetes mellitus, insulin-dependent, 12 10.2 TG TPO TSHR
45 genital dwarfism, turner type 10.2 THRB TRH TXNRD2
46 pseudohypoparathyroidism 10.2 TG TPO TSHR
47 monocular esotropia 10.1 CACNA1S SCN4A
48 hemoglobinopathy 10.1 SERPINA7 TPO TRH
49 cardiovascular organ benign neoplasm 10.1 TG TRH
50 mitochondrial dna deletion syndromes 10.0 CACNA1S SCN4A

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:

54

Neuro:
hyperreflexia

Muscle:
muscle weakness

Eyes:
exophthalmos

Endocrine:
thyrotoxicosis

GI:
increased appetite
gi hypermotility

Lab:
high t4 and t3
high rai
low serum tsh

Misc:
irritability
hyperactivity
weight loss
nervousness
hyperpyrexia

Neck:
goiter

Skin:
increased sweating
pretibial myxedema

Nails:
oncholysis

Cardiac:
high output congestive heart failure


Clinical features from OMIM:

275000

Human phenotypes related to Graves Disease 1:

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 hyperreflexia 32 HP:0001347
2 irritability 32 HP:0000737
3 proptosis 32 HP:0000520
4 muscle weakness 32 HP:0001324
5 hyperactivity 32 HP:0000752
6 congestive heart failure 32 HP:0001635
7 goiter 32 HP:0000853
8 weight loss 32 HP:0001824
9 hyperhidrosis 32 HP:0000975
10 onycholysis 32 HP:0001806
11 polyphagia 32 HP:0002591
12 pretibial myxedema 32 HP:0200028
13 abnormality of metabolism/homeostasis 32 HP:0001939
14 graves disease 32 HP:0100647
15 abnormality of abdomen morphology 32 HP:0001438

MGI Mouse Phenotypes related to Graves Disease 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.56 TPO TRH TSHR CACNA1S DIO2 SCN4A
2 homeostasis/metabolism MP:0005376 9.32 CACNA1S DIO2 SCN4A SLC16A2 TG THRB

Drugs & Therapeutics for Graves Disease 1

Drugs for Graves Disease 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 150)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propylthiouracil Approved Phase 4,Phase 3,Phase 2 51-52-5 657298
2
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
3
Dinoprost Tromethamine Approved, Vet_approved Phase 4 38562-01-5 5282415
4
Ephedrine Approved Phase 4 299-42-3 9294
5
Pseudoephedrine Approved Phase 4 90-82-4 7028
6
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
7
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
8
Propranolol Approved, Investigational Phase 4 525-66-6 4946
9
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
10
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
11
Dinoprost Investigational Phase 4 551-11-1 5283078
12 Antimetabolites Phase 4,Phase 3
13 Antithyroid Agents Phase 4,Phase 3,Phase 1,Phase 2
14 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
15 Hormones Phase 4,Phase 2,Phase 3,Phase 1
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
17 Antihypertensive Agents Phase 4
18 Anti-Infective Agents Phase 4,Phase 1,Phase 2
19 Anti-Infective Agents, Local Phase 4
20 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1
21 Benzalkonium Compounds Phase 4
22 Lubricant Eye Drops Phase 4
23 Nasal Decongestants Phase 4
24 Ophthalmic Solutions Phase 4
25 Oxytocics Phase 4
26 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
27 Pharmaceutical Solutions Phase 4
28 Respiratory System Agents Phase 4
29 Tetrahydrozoline Phase 4
30 Vasoconstrictor Agents Phase 4
31 Adrenergic Agents Phase 4
32 Adrenergic Antagonists Phase 4
33 Adrenergic beta-1 Receptor Antagonists Phase 4
34 Adrenergic beta-Antagonists Phase 4
35 Analgesics Phase 4
36 Analgesics, Non-Narcotic Phase 4
37 Anti-Arrhythmia Agents Phase 4
38 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1
39 Anti-Inflammatory Agents, Non-Steroidal Phase 4
40 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1
41 Cyclooxygenase Inhibitors Phase 4
42 Neurotransmitter Agents Phase 4
43 Sympatholytics Phase 4
44 Vasodilator Agents Phase 4
45 glucocorticoids Phase 4,Phase 2,Phase 3,Phase 1
46 Immunosuppressive Agents Phase 4
47 triamcinolone acetonide Phase 4
48 Triamcinolone diacetate Phase 4
49 Triamcinolone hexacetonide Phase 4
50 Protective Agents Phase 4,Phase 2,Phase 3

Interventional clinical trials:

(show all 44)

id Name Status NCT ID Phase Drugs
1 The Effect of Early Total Thyroidectomy in the Course of Graves' Orbitopathy Unknown status NCT01056419 Phase 4 Propylthiouracil
2 Prostaglandin F2-alpha Eye Drops in Thyroid Eye Disease (Bima Study) Completed NCT02059655 Phase 4 Bimatoprost;Eye drop solution
3 Adjuvant Treatment of Graves´ Ophthalmopathy With NSAID (aGO Study) Completed NCT01458600 Phase 4 Diclofenac;Methimazole;L-thyroxin;Propranolol;Metoprolol
4 Treatment of Upper Eyelid Retraction Related to Thyroid-associated Ophthalmopathy Using Subconjunctival Triamcinolone Injections Completed NCT01599273 Phase 4 subconjunctival triamcinolone injection
5 Hyaluronic Acid Gels for Upper Lid Retraction in Active Stage Thyroid Eye Disease Recruiting NCT01738243 Phase 4 Hyaluronic Acid Gel injection;Saline injection
6 Trial of Rituximab for Graves' Ophthalmopathy Completed NCT00595335 Phase 2, Phase 3 Rituximab;Saline;Methylprednisolone
7 Efficacy and Safety of Cholestyramine and Prednisolone as Adjunctive Therapy in Treatment of Overt Hyperthyroidism Recruiting NCT03303053 Phase 3 Cholestyramine Powder 4g;Prednisolone;Standard treatment
8 Total Thyroidectomy Versus Thionamides in Patients With Moderate-to-Severe Graves' Ophthalmopathy Recruiting NCT03066076 Phase 3 Antithyroid Drug
9 Bupivacaine Injection of Eye Muscles to Treat Strabismus Recruiting NCT01616108 Phase 2, Phase 3 Bupivacaine
10 Treatment of Graves' Orbitopathy (Thyroid Eye Disease) to Reduce Proptosis With Teprotumumab Infusions in a Randomized, Placebo-Controlled, Clinical Study Not yet recruiting NCT03298867 Phase 3
11 The Effect of a New Antioxidant Combination (ASTED) on Mild Thyroid Eye Disease (TED) Not yet recruiting NCT02393183 Phase 2, Phase 3 ASTED
12 The Effect of a New Antioxidant Combination (ASTED) on Moderate to Severe Thyroid Eye Disease Not yet recruiting NCT02422368 Phase 2, Phase 3 Methylprednisolone + ASTED;Methylprednisolone +Placebo
13 Role of the Microbiome in Graves' Orbitopathy Unknown status NCT02373995 Phase 1, Phase 2
14 Effects Of Oral Alfacalcidol On Maturation Of Dendritic Cells In Graves' Disease Patients Completed NCT02993302 Phase 2 1α-D3;Placebos
15 Rituximab in the Treatment of Graves' Disease Completed NCT00150111 Phase 1, Phase 2 Methimazole;Rituximab
16 Radioactive Iodide Therapy for Pediatric Graves' Disease Completed NCT01269749 Phase 2 ATD Group
17 Rituximab Treatment of Graves' Dysthyroid Ophthalmopathy Completed NCT00424151 Phase 1, Phase 2 Rituximab
18 Efficacy of Subantimicrobial Dose Doxycycline for Moderate to Severe and Active Graves' Orbitopathy Completed NCT01727973 Phase 1, Phase 2 Doxycycline
19 Teprotumumab Treatment in Patients With Active Thyroid Eye Disease Completed NCT01868997 Phase 2 teprotumumab;normal saline
20 Lanreotide (Somatuline Autogel) in Thyroid-associated Ophthalmopathy Treatment Terminated NCT00288522 Phase 2 Lanreotide (Autogel formulation). Duration of treatment - 3 injections, 1 every 28 days
21 Function of Regulatory T Cells Improved by Dexamethasone in Graves' Patients Completed NCT01534169 Phase 1 Dexamethasone
22 TSH Receptor Antibody Heterogeneity in Children and Adolescents With Graves' Disease Completed NCT00335062 Phase 1
23 K1-70 - A Study in Subjects With Graves' Disease Recruiting NCT02904330 Phase 1 K1-70 intramuscular
24 ATX-GD-59 in Patients With Graves Disease Not Treated With Anti-thyroid Therapy Active, not recruiting NCT02973802 Phase 1
25 Comparative Study of Different I-131 Doses in Graves' Disease Unknown status NCT02114619 Low dose of I-131;Intermediate dose;High dose
26 The Role of TSH Receptor, PPAR-r, IGF-1R, IGF and Cytokines in Different Stages of Graves’Ophthalmopathy Unknown status NCT00174057
27 A Evaluation of High Intensity Focused Ultrasound (HIFU) in the Treatment of Relapsed Graves' Disease Completed NCT02685514
28 Characteristics of Islet β-cell Functions in Chinese Patients With Graves' Disease Completed NCT02376088 Methimazole
29 Effect of Lugol's Solution in the Patients With Graves' Disease Completed NCT00432146 lugol's solution
30 Low Doses of Cholestyramine in the Treatment of Hyperthyroidism Completed NCT00677469 Cholestyramine;Cholestyramine;Placebo powder
31 Treatment of Graves' Hyperthyroidism With Selenium Plus Methimazole Completed NCT02727738 Methimazole
32 Randomized Study of Sequential Orbital Radiotherapy for Graves' Ophthalmopathy Completed NCT00004660
33 Cervarix Long-term Safety Surveillance Completed NCT01498627
34 Thiamine Supplement in Patients With Severe Hyperthyroidism Completed NCT02767245 Thiamine
35 Morphometric Analysis of Orbital Structures in Graves´ Orbitopathy Completed NCT00665795
36 T and B Cells in Graves' Orbitopathy Completed NCT03195296
37 Thyroid Treatment Trial Completed NCT00348413 Intravenous Methylprednisolone + Oral Methotrexate vs Intravenous Methylprednisolone + Placebo
38 B-cell Depletion Therapy With Rituximab for Thyroid Eye Disease Recruiting NCT02316691
39 Selenium Supplementation Versus Placebo in Patients With Graves' Hyperthyroidism Recruiting NCT01611896
40 Amyotrophic Lateral Sclerosis and the Innate Immune System Recruiting NCT02869048
41 mDixon TSE MRI Sequence And Conventional MRI Sequences In Dysimmune Orbitopathies (DDX) Recruiting NCT02397109
42 DNA Methylation and Autoimmune Thyroid Diseases Active, not recruiting NCT02491567
43 Remission Induction and Sustenance in Graves' Disease 2 Active, not recruiting NCT00796913
44 Bromocriptine and Pentoxifylline in Ophthalmopathy Autoimmune Treatment Terminated NCT01893450 Methimazole;Bromocriptine;Pentoxifylline

Search NIH Clinical Center for Graves Disease 1

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: thyrotoxicosis

Genetic Tests for Graves Disease 1

Anatomical Context for Graves Disease 1

MalaCards organs/tissues related to Graves Disease 1:

39
Thyroid, Eye, Heart, B Cells, Bone, T Cells

Publications for Graves Disease 1

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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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