Cytoscape Web
Click node...

Hypothyroidism due to TSH receptor mutations
1 OMIM reference -
1 associated gene
13 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 8
Athyreosis
2 OMIM references -
6 associated genes
14 signs/symptoms
Hypothyroidism due to TSH receptor mutations
Athyreosis

TSHR
(UniProt - OMIM)
 FOXE1
(UniProt - OMIM)
NKX2-1
(UniProt - OMIM)
NKX2-5
(UniProt - OMIM)
PAX8
(UniProt - OMIM)
SLC26A4
(UniProt - OMIM)
TSHR
(UniProt - OMIM)

COMMON
GENES 		TSHR


Citations in the biomedical literature:


Hypothyroidism due to TSH receptor mutations
TSHR
Athyreosis
FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4



Hypothyroidism due to TSH receptor mutations
Athyreosis

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic 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:
Class of prevalence: 1-9 / 100 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references
COMMON
SIGNS 		- Absent / hypotonic / flaccid abdominal wall muscles
- Constipation
- Face / facial anomalies
- Hypothyroidy
- Hypotonia
- Large fontanelle / delayed fontanelle closure
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Sleep and vigilance disorders

Hypothyroidism due to TSH receptor mutations
Athyreosis

Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Anomalies of skin, subcutaneous tissue and mucosae
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatitis / icterus / cholestasis
- Umbilical hernia



Very frequent
- Asthenia / fatigue / weakness
- Coarse face
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Muscle weakness / flaccidity

Frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism