GRAVES DISEASE, SUSCEPTIBILITY TO, 1
General Information (adopted from Orphanet):
Synonyms, Signs: |
THYROTOXICOSIS HYPERTHYROIDISM, AUTOIMMUNE GRAVES DISEASE, SUSCEPTIBILITY TO, 1, INCLUDED GRD1, INCLUDED GRD |
Number of Symptoms | 21 |
OrphanetNr: | |
OMIM Id: |
275000
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
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Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000520) | Proptosis | 192 / 7739 | ||||
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(HPO:0000737) | Irritability | 93 / 7739 | ||||
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(HPO:0002591) | Polyphagia | 25 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0000752) | Hyperactivity | 140 / 7739 | ||||
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(HPO:0100647) | Graves disease | 1 / 7739 | ||||
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(HPO:0000836) | Hyperthyroidism | 25 / 7739 | ||||
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(HPO:0000853) | Goiter | 39 / 7739 | ||||
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(HPO:0001438) | Abnormality of the abdomen | 28 / 7739 | ||||
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(HPO:0001824) | Weight loss | 42 / 7739 | ||||
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(HPO:0200028) | Pretibial myxedema | 1 / 7739 | ||||
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(HPO:0000975) | Hyperhidrosis | 64 / 7739 | ||||
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(HPO:0001806) | Onycholysis | 20 / 7739 | ||||
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(HPO:0001722) | High-output congestive heart failure | 4 / 7739 | ||||
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(HPO:0001635) | Congestive heart failure | 232 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(OMIM) | GI hypermotility | 1 / 7739 | ||||
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(OMIM) | Low serum TSH | 1 / 7739 | ||||
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(OMIM) | High T4 and T3 | 1 / 7739 | ||||
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(OMIM) | High RAI | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
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 ... |