ODCs

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Familial hyperthyroidism due to mutations in TSH receptor

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Autosomal dominant hyper-IgE syndrome

1 OMIM reference -
1 associated gene
38 signs/symptoms

Familial hyperthyroidism due to mutations in TSH receptor

Autosomal dominant hyper-IgE syndrome

TSHR

(UniProt - OMIM)

STAT3

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TSHR	(0.84)	STAT3

Citations in the biomedical literature:

Familial hyperthyroidism due to mutations in TSH receptor		Autosomal dominant hyper-IgE syndrome
	Synonym(s): - Familial non-immune hyperthyroidism - Resistance to thyroid stimulating hormone		Synonym(s): - AD-HIES - Autosomal dominant HIES - Autosomal dominant hyperimmunoglobulin E syndrome - Buckley syndrome - Hyperimmunoglobulin E syndrome type 1 - Hyperimmunoglobulin E-recurrent infection syndrome - Job syndrome

	Classification (Orphanet): - Rare circulatory system disease - Rare endocrine disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Autosomal dominant hyper-IgE syndrome
	Very frequent - Anomalies of skin, subcutaneous tissue and mucosae - Anomalies of the immunitary system - Atelectasia / pulmonary collapse - Autosomal dominant inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Cutaneous rash - Eczema - Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity - Immunodeficiency / increased susceptibility to infections / recurrent infections - Pruritus / itching - Repeat respiratory infections Frequent - Anomalies of teeth and dentition - Broad nose / nasal bridge - Chronic / relapsing otitis - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cough - Deepset eyes / enophthalmos - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dysplastic / thick / grooved fingernails - Eosinophils anomalies / hypereosinophilia - Face / facial anomalies - Follicular / erythematous / edematous papules / milium - Frontal bossing / prominent forehead - Gingivitis - Hair and scalp anomalies - Hyperextensible joints / articular hyperlaxity - Mutiple fractures / bone fragility - Onyxis / paronyxis / ungual inflammation - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Scoliosis Occasional - Arterial aneurism (excluding aorta) - Autosomal recessive inheritance - Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue - Craniostenosis / craniosynostosis / sutural synostosis - Fever / chilling - Lymphoma - Osteomyelitis / osteitis / periostitis / spondylodisciitis - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
Familial hyperthyroidism due to mutations in TSH receptor
(no data available)