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Atelosteogenesis type I

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

2 OMIM references -
6 associated genes
14 signs/symptoms

Atelosteogenesis type I

Athyreosis

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


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

Citations in the biomedical literature:

Atelosteogenesis type I		Athyreosis
	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: Class of prevalence: 1-9 / 100 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535396		External references: 2 OMIM references - No MeSH references

Athyreosis
	Very frequent - Absent / hypotonic / flaccid abdominal wall muscles - Asthenia / fatigue / weakness - Coarse face - Constipation - Ectopic / agenesis / dysgenesis / hypoplastic thyroid - Face / facial anomalies - Hypothyroidy - Hypotonia - Large fontanelle / delayed fontanelle closure - Macroglossia / tongue protrusion / proeminent / hypertrophic - Muscle weakness / flaccidity - Sleep and vigilance disorders Frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Short stature / dwarfism / nanism
Atelosteogenesis type I
(no data available)