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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
2 OMIM references -
6 associated genes
14 signs/symptoms
Familial gestational hyperthyroidism
Thyroid hypoplasia

TSHR FOXE1
NKX2-1
NKX2-5
PAX8
SLC26A4
TSHR


COMMON
GENES
TSHR



Citations in the biomedical literature:


Familial gestational hyperthyroidism
TSHR
Thyroid hypoplasia
FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4



Familial gestational hyperthyroidism
Thyroid hypoplasia

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:
2 OMIM references -
No MeSH references

Thyroid hypoplasia

Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Asthenia / fatigue / weakness
- Coarse face
- Constipation
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- 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

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



Familial gestational hyperthyroidism

(no data available)