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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
13 signs/symptoms
Atelosteogenesis type I
Hypothyroidism due to TSH receptor mutations

FLNB TSHR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNB
(0.67)
TSHR



Citations in the biomedical literature:


Atelosteogenesis type I
FLNB
Hypothyroidism due to TSH receptor mutations
TSHR



Atelosteogenesis type I
Hypothyroidism due to TSH receptor mutations

Synonym(s):
- AO1
- AOI
- Giant cell chondrodysplasia
- Spondylo-humero-femoral dysplasia

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: C535396
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



Atelosteogenesis type I

(no data available)