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Thyroid hypoplasia
2 OMIM references -
6 associated genes
14 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
Benign familial chorea
2 OMIM references -
1 associated gene
2 signs/symptoms
Thyroid hypoplasia
Benign familial chorea

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

COMMON
GENES 		NKX2-1
INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PAX8
(0.95)
NKX2-1


Citations in the biomedical literature:


Thyroid hypoplasia
FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4 TSHR

Benign familial chorea



Thyroid hypoplasia
Benign familial chorea

Synonym(s):
(no synonyms)

Synonym(s):
- Hereditary benign chorea
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references
Thyroid hypoplasia
Benign familial chorea

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



Very frequent
- Abnormal gait
- Movement disorder