GRD
MCID: GRV008
MIFTS: 60

Graves Disease 1 (GRD)

Categories: Endocrine diseases, Immune diseases, Rare diseases

Aliases & Classifications for Graves Disease 1

MalaCards integrated aliases for Graves Disease 1:

Name: Graves Disease 1 57
Thyrotoxicosis 57 12 44 15 73
Graves Disease, Susceptibility to, 1 57 13
Hyperthyroidism, Autoimmune 57
Grd1 57
Grd 57

Characteristics:

OMIM:

57
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 : 57 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 subacute thyroiditis. An important gene associated with Graves Disease 1 is GRD1 (Graves Disease, Susceptiblity To, 1), and among its related pathways/superpathways are Allograft rejection and Aldosterone synthesis and secretion. Affiliated tissues include thyroid, heart and bone, and related phenotypes are hyperhidrosis and muscle weakness

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 281)
# Related Disease Score Top Affiliating Genes
1 neonatal thyrotoxicosis 33.8 TSHR TXNRD2
2 subacute thyroiditis 32.0 SERPINA7 TG TPO TSHR
3 hypokalemic periodic paralysis, type 1 32.0 INS SCN4A
4 graves' disease 31.0 DIO2 GRD1 SERPINA7 TG THRB TPO
5 plummer's disease 30.9 TG THRB TPO
6 hashimoto thyroiditis 30.9 TG TPO TSHR
7 exophthalmos 30.6 TG TSHR
8 hyperthyroidism 30.5 INS SERPINA7 TG THRB TPO TRH
9 myxedema 30.4 TG TPO TSHR
10 struma ovarii 30.1 TG TSHR
11 thyroiditis 30.1 SERPINA7 TG THRB TPO TRH TSHR
12 multinodular goiter 30.1 TG TPO TSHR
13 pernicious anemia 30.0 TG TPO
14 nodular goiter 29.9 TG TPO TSHR
15 neonatal hypothyroidism 29.8 TG TPO TSHR
16 goiter 29.8 SERPINA7 TG THRB TPO TRH TSHR
17 endemic goiter 29.8 SERPINA7 TG TPO TSHR
18 thyroid crisis 29.8 SERPINA7 TG THRB
19 papillary carcinoma 29.7 TG TPO TSHR
20 hyperthyroxinemia 29.6 SERPINA7 TPO TRH TSHR
21 hypothyroidism 29.6 DIO2 SERPINA7 TG THRB TPO TRH
22 congenital hypothyroidism 29.5 SERPINA7 TG TPO TSHR
23 postsurgical hypothyroidism 29.5 TG TRH TSHR
24 thyroid cancer 29.5 DIO2 TG THRB TPO TSHR TXNRD2
25 hyperpituitarism 29.5 INS TRH
26 differentiated thyroid carcinoma 29.5 TG TPO TSHR
27 nontoxic goiter 29.3 SERPINA7 TG TPO TSHR
28 endogenous depression 29.2 INS TRH
29 diabetes mellitus, insulin-dependent 29.2 INS TG TPO
30 thyroid cancer, nonmedullary, 2 29.2 DIO2 TG THRB TPO TSHR
31 thyroid hormone resistance, generalized, autosomal dominant 29.1 SERPINA7 TG THRB TRH TXNRD2
32 toxic diffuse goiter 28.9 DIO2 SERPINA7 TG TPO TRH TSHR
33 thyrotoxic periodic paralysis 11.7
34 mccune-albright syndrome 11.4
35 stiff-person syndrome 11.1
36 benign struma ovarii 10.2 TG TSHR
37 athyreosis 10.2 TG TSHR
38 dyshormonogenic goiter 10.2 SERPINA7 TG
39 atrial fibrillation 10.2
40 suppurative thyroiditis 10.2
41 thyroid hormone resistance, selective pituitary 10.2
42 hyperthyroidism, familial gestational 10.2
43 hyperthyroidism, nonautoimmune 10.2
44 subacute lymphocytic thyroiditis 10.2 TG TPO
45 papillary thyroid microcarcinoma 10.2 TG TSHR
46 familial thyroid dyshormonogenesis 10.2 TG TPO
47 hashimoto encephalopathy 10.2 TPO TSHR
48 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.1 TG TPO
49 premature menopause 10.1 TG TPO
50 hypothyroidism, congenital, nongoitrous, 2 10.1 SERPINA7 TG TSHR

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:

57
Muscle:
muscle weakness

Misc:
irritability
weight loss
hyperactivity
nervousness
hyperpyrexia

Eyes:
exophthalmos

Endocrine:
thyrotoxicosis

G I:
increased appetite
gi hypermotility

Lab:
high t4 and t3
high rai
low serum tsh

Neuro:
hyperreflexia

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

MGI Mouse Phenotypes related to Graves Disease 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.87 DIO2 INS TG THRB TPO TRH
2 growth/size/body region MP:0005378 9.86 DIO2 INS SCN4A TG THRB TPO
3 homeostasis/metabolism MP:0005376 9.85 DIO2 INS SCN4A SLC16A2 TG THRB
4 no phenotypic analysis MP:0003012 9.35 INS SLC16A2 THRB TRH TXNRD2
5 skeleton MP:0005390 9.1 DIO2 INS TG THRB TPO TSHR

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:

41
Thyroid, Heart, Bone, Lung, Liver, Pituitary, Eye

Publications for Graves Disease 1

Articles related to Graves Disease 1:

(show top 50) (show all 438)
# Title Authors Year
1
Thyrotoxicosis induced cardiogenic shock rescued by extracorporeal membrane oxygenation. ( 29662515 )
2018
2
Central congenital hypothyroidism caused by maternal thyrotoxicosis. ( 29572363 )
2018
3
Thyrotoxicosis in Graves' Disease with Invasive Laryngeal Cancer. ( 29279495 )
2018
4
Resistant Thyrotoxicosis due to Graves' Disease in Pregnancy: Case Report and Review of the Literature. ( 30410838 )
2018
5
A Case of Thyrotoxicosis due to Simultaneous Occurrence of Subacute Thyroiditis and Graves' Disease. ( 30510812 )
2018
6
Investigational drugs in early stage clinical trials for thyrotoxicosis with hyperthyroidism. ( 30354697 )
2018
7
Bilateral, Asymmetric Keratoconus Induced by Thyrotoxicosis With Long-term Stability After Corneal Cross-linking. ( 29738594 )
2018
8
Right ventricular dysfunction and pulmonary hypertension: a neglected presentation of thyrotoxicosis. ( 29785271 )
2018
9
Amiodarone-induced Thyrotoxicosis with Cardiopulmonary Arrest. ( 29033440 )
2018
10
Is hungry bone syndrome a cause of postoperative hypocalcemia after total thyroidectomy in thyrotoxicosis? A prospective study with bone mineral density correlation. ( 29146231 )
2018
11
Long-term outcome of thyrotoxicosis in childhood and adolescence in the west of Scotland: the case for long-term antithyroid treatment and the importance of initial counselling. ( 29269558 )
2018
12
Management of thyrotoxicosis in children and adolescents: 35 years' experience in 304 patients. ( 29306930 )
2018
13
Anaplastic thyroid carcinoma with rapid thyrotoxicosis - a case report and the literature review. ( 29319130 )
2018
14
In iodine-induced thyrotoxicosis, steroid therapy today could keep the surgical knife at bay. ( 29466241 )
2018
15
Clinical Feasibility of Continuously Monitored Data for Heart Rate, Physical Activity, and Sleeping by Wearable Activity Trackers in Patients with Thyrotoxicosis: Protocol for a Prospective Longitudinal Observational Study. ( 29467121 )
2018
16
Thyrotoxicosis induced cardiomyopathy requiring support with extracorporeal membrane oxygenation. ( 29475150 )
2018
17
Thyrotoxicosis and Adrenocortical Hormone Deficiency During Immune-checkpoint Inhibitor Treatment for Malignant Melanoma. ( 29475919 )
2018
18
Anaemia and thyrotoxicosis: The need to look for an alternative cause. ( 29566435 )
2018
19
Steroids and Thyrotoxicosis Precipitate Periodic Paralysis. ( 29581918 )
2018
20
Managing thyrotoxicosis in the acute medical setting. ( 29589605 )
2018
21
POSITIVE THYROTROPIN RECEPTOR ANTIBODIES IN PATIENTS WITH TRANSIENT THYROTOXICOSIS. ( 29624097 )
2018
22
"White Thyroid" on Unenhanced Computed Tomography in Amiodarone-Induced Thyrotoxicosis Type 2. ( 29631498 )
2018
23
Thyrotoxicosis after iodine fortification. A 21-year Danish population-based study. ( 29851122 )
2018
24
A comparison between the effects of Portulaca oleracea seeds extract and valsartan on echocardiographic and hemodynamic parameters in rats with levothyroxine-induced thyrotoxicosis. ( 29881713 )
2018
25
Diagnostic Values of Free Triiodothyronine and Free Thyroxine and the Ratio of Free Triiodothyronine to Free Thyroxine in Thyrotoxicosis. ( 29971103 )
2018
26
Clinical Feasibility of Monitoring Resting Heart Rate Using a Wearable Activity Tracker in Patients With Thyrotoxicosis: Prospective Longitudinal Observational Study. ( 30006328 )
2018
27
Amiodarone-Induced Thyrotoxicosis: Differential Diagnosis Using 99mTc-SestaMIBI and Target-to-Background Ratio (TBR). ( 30036255 )
2018
28
Acute Right Ventricular Heart Failure: An Uncommon Case of Thyrotoxicosis. ( 30139580 )
2018
29
Thyrotoxicosis after iodine fortification. A 21-year Danish population-based study. ( 30176058 )
2018
30
Management of Amiodarone-Induced Thyrotoxicosis at a Cardiac Transplantation Centre. ( 30186240 )
2018
31
Global Disruption of α2A Adrenoceptor Barely Affects Bone Tissue but Minimizes the Detrimental Effects of Thyrotoxicosis on Cortical Bone. ( 30233491 )
2018
32
Issues in amiodarone-induced thyrotoxicosis: Update and review of the literature. ( 30236455 )
2018
33
MANAGEMENT OF THYROTOXICOSIS: PRECONCEPTION, PREGNANCY, AND THE POSTPARTUM PERIOD. ( 30289300 )
2018
34
Predicting outcomes and complications following radioiodine therapy in Graves' thyrotoxicosis. ( 30291728 )
2018
35
A pediatric case with prostaglandin I2-associated thyrotoxicosis: Case report and the literature review. ( 30325337 )
2018
36
Thyroidectomy for Amiodarone-Induced Thyrotoxicosis: Mayo Clinic Experience. ( 30370394 )
2018
37
National Trends in Incidence, Mortality and Clinical Outcomes of Patients Hospitalized for Thyrotoxicosis with and without Thyroid Storm in the United States, 2004-2013. ( 30382003 )
2018
38
Management of thyrotoxicosis in children and adolescence: a Turkish multi-center experience. ( 30488822 )
2018
39
UNFAVORABLE SOCIOECONOMIC FACTORS UNDERLIE HIGH RATES OF HOSPITALIZATION FOR COMPLICATED THYROTOXICOSIS IN SOME REGIONS OF THE UNITED STATES. ( 30526425 )
2018
40
Psychosis Crisis Associated with Thyrotoxicosis due to Graves' Disease. ( 28695035 )
2017
41
Graves' Disease Thyrotoxicosis and Propylthiouracil Related Agranulocytosis Successfully Treated with Therapeutic Plasma Exchange and G-CSF Followed by Total Thyroidectomy. ( 29181135 )
2017
42
Thyrotoxicosis Occurring in Secondary Hyperparathyroidism Patients Undergoing Dialysis after Total Parathyroidectomy with Autotransplantation. ( 28776554 )
2017
43
Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation. ( 29225840 )
2017
44
Thyrotoxicosis in patients with hypothyroidism is not just overtreatment. ( 28710200 )
2017
45
Recurrent fetal thyrotoxicosis in woman with history of Hashimoto's thyroiditis. ( 28508540 )
2017
46
Orthostatic tremor as the only manifestation of thyrotoxicosis following cerebral angiography. ( 28712843 )
2017
47
Abdominal tremor in thyrotoxicosis. ( 28821688 )
2017
48
Effect of treatment with epoprostenol and endothelin receptor antagonists on the development of thyrotoxicosis in patients with pulmonary arterial hypertension. ( 28890480 )
2017
49
Hyperpigmentation on face and arms and thyrotoxicosis induced by amiodarone treatment. ( 27028164 )
2017
50
The effects of gestational transient thyrotoxicosis on the perinatal outcomes: a case-control study. ( 27766407 )
2017

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

Pathways related to Graves Disease 1 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 INS TG TPO TSHR
2
Show member pathways
12.03 INS SERPINA7 TG TPO TSHR
3
Show member pathways
11.94 DIO2 INS SLC16A2 THRB
4
Show member pathways
11.83 DIO2 INS TXNRD2
5 11.5 DIO2 SLC16A2 THRB
6 11.23 INS TSHR
7 11.16 INS TPO
8 11.12 DIO2 TXNRD2
9 11.08 INS TSHR
10
Show member pathways
11.01 DIO2 TPO
11 9.7 TG TPO TRH TSHR

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 cell-cell signaling GO:0007267 9.61 INS TRH TSHR
2 thyroid gland development GO:0030878 9.4 TG THRB
3 thyroid hormone generation GO:0006590 9.37 DIO2 TPO
4 thyroid hormone metabolic process GO:0042403 9.32 DIO2 TG
5 thyroid hormone transport GO:0070327 9.26 SERPINA7 SLC16A2
6 negative regulation of feeding behavior GO:2000252 9.16 INS TRH
7 hormone-mediated signaling pathway GO:0009755 9.13 THRB TRH TSHR
8 hormone biosynthetic process GO:0042446 8.8 DIO2 TG TPO

Molecular functions related to Graves Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.8 INS TG TRH

Sources for Graves Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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