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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
13 signs/symptoms
Familial gestational hyperthyroidism
Hypothyroidism due to TSH receptor mutations

TSHR TSHR


COMMON
GENES
TSHR



Citations in the biomedical literature:


Familial gestational hyperthyroidism
TSHR
Hypothyroidism due to TSH receptor mutations



Familial gestational hyperthyroidism
Hypothyroidism due to TSH receptor mutations

Classification (Orphanet):
- Rare circulatory system disease
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare renal disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

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

Hypothyroidism due to TSH receptor mutations

Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Absent / hypotonic / flaccid abdominal wall muscles
- Anomalies of skin, subcutaneous tissue and mucosae
- Constipation
- Face / facial anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatitis / icterus / cholestasis
- Hypothyroidy
- Hypotonia
- Large fontanelle / delayed fontanelle closure
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Sleep and vigilance disorders
- Umbilical hernia



Familial gestational hyperthyroidism

(no data available)