MCID: GRV008
MIFTS: 43

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 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 thyrotoxic periodic paralysis. 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 proptosis and irritability

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 59)
# Related Disease Score Top Affiliating Genes
1 neonatal thyrotoxicosis 34.1 TSHR TXNRD2
2 thyrotoxic periodic paralysis 32.4 CACNA1S TSHR
3 subacute thyroiditis 31.6 SERPINA7 TG TPO TSHR
4 hypokalemic periodic paralysis, type 1 31.5 CACNA1S SCN4A
5 graves' disease 28.9 DIO2 GRD1 SERPINA7 TG THRB TPO
6 mccune-albright syndrome 11.2
7 stiff-person syndrome 10.9
8 benign struma ovarii 10.7 TG TSHR
9 athyreosis 10.7 TG TSHR
10 struma ovarii 10.6 TG TSHR
11 dyshormonogenic goiter 10.6 SERPINA7 TG
12 familial thyroid dyshormonogenesis 10.5 TG TPO
13 papillary thyroid microcarcinoma 10.5 TG TSHR
14 subacute lymphocytic thyroiditis 10.5 TG TPO
15 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.5 TG TPO
16 exophthalmos 10.5 TG TSHR
17 premature menopause 10.4 TG TPO
18 hypothyroidism, congenital, nongoitrous, 4 10.4 TG TPO
19 pernicious anemia 10.4 TG TPO
20 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.4 TG TPO
21 hypothyroidism, congenital, nongoitrous, 2 10.4 SERPINA7 TG TSHR
22 chromophobe adenoma 10.3 SERPINA7 TRH
23 neonatal hypothyroidism 10.2 TG TPO TSHR
24 myxedema 10.2 TG TPO TSHR
25 nodular goiter 10.2 TG TPO TSHR
26 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2 TG TPO TSHR
27 multinodular goiter 10.2 TG TPO TSHR
28 follicular adenoma 10.2 TG TPO TSHR
29 hypersensitivity reaction disease 10.2 TG TPO TSHR
30 congenital hypothyroidism 10.2 TG TPO TSHR
31 papillary carcinoma 10.2 TG TPO TSHR
32 differentiated thyroid carcinoma 10.2 TG TPO TSHR
33 plummer's disease 10.2 TG THRB TPO
34 periodic paralyses 10.2 CACNA1S SCN4A
35 hashimoto thyroiditis 10.1 TG TPO TSHR
36 endocrine organ benign neoplasm 10.1 TG TRH
37 generalized resistance to thyroid hormone 10.1 THRB TRH TXNRD2
38 hyperkalemic periodic paralysis 10.1 CACNA1S SCN4A
39 familial periodic paralysis 10.1 CACNA1S SCN4A
40 myotonia congenita 10.0 CACNA1S SCN4A
41 malignant hyperthermia susceptibility 10.0 CACNA1S SCN4A
42 euthyroid sick syndrome 10.0 DIO2 SERPINA7
43 kashin-beck disease 9.9 DIO2 TXNRD2
44 metal metabolism disorder 9.9 CACNA1S SCN4A
45 endemic goiter 9.9 SERPINA7 TG TPO TSHR
46 nontoxic goiter 9.9 SERPINA7 TG TPO TSHR
47 autoimmune disease of endocrine system 9.8 SERPINA7 TG TPO TSHR
48 anaplastic thyroid cancer 9.7 TG TPO
49 hyperthyroxinemia 9.7 SERPINA7 TPO TRH TSHR
50 andersen cardiodysrhythmic periodic paralysis 9.6 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:

57
Muscle:
muscle weakness

Misc:
irritability
weight loss
hyperactivity
nervousness
hyperpyrexia

Eyes:
exophthalmos

Endocrine:
thyrotoxicosis

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

MGI Mouse Phenotypes related to Graves Disease 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.63 THRB TPO TRH TSHR DIO2 TG
2 growth/size/body region MP:0005378 9.56 CACNA1S DIO2 SCN4A TG THRB TPO
3 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:

41
Thyroid, Heart

Publications for Graves Disease 1

Articles related to Graves Disease 1:

# Title Authors Year
1
Quantitative thyroid scintigraphy for the differentiation of Graves' disease and hyperthyroid autoimmune thyroiditis. ( 15316579 )
2004

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 membrane depolarization during action potential GO:0086010 9.4 CACNA1S SCN4A
2 thyroid gland development GO:0030878 9.37 TG THRB
3 thyroid hormone generation GO:0006590 9.32 DIO2 TPO
4 thyroid hormone transport GO:0070327 9.26 SERPINA7 SLC16A2
5 thyroid hormone metabolic process GO:0042403 9.16 DIO2 TG
6 hormone-mediated signaling pathway GO:0009755 9.13 THRB TRH TSHR
7 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 cation channel activity GO:0005261 8.62 CACNA1S SCN4A

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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