ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
21 signs/symptoms

Atelosteogenesis type I

Hypoparathyroidism - deafness - renal disease


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.63)	GATA3

Citations in the biomedical literature:

Atelosteogenesis type I		Hypoparathyroidism - deafness - renal disease
	Synonym(s): - AO1 - AOI - Giant cell chondrodysplasia - Spondylo-humero-femoral dysplasia		Synonym(s): - Barakat syndrome - HDR syndrome

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

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

Hypoparathyroidism - deafness - renal disease
	Very frequent - Autosomal dominant inheritance - Hypocalcemia - Hypoparathyroidy - Sensorineural deafness / hearing loss Frequent - Agenesis / hypoplasia / aplasia of kidneys - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Ectopic / horseshoe / fused kidneys - Failure to thrive / difficulties for feeding in infancy / growth delay - Gastric / pyloric stenosis - Hematuria / microhematuria - Multicystic kidney / renal dysplasia - Nystagmus - Proteinuria - Psoriasis - Ptosis - Renal failure - Retinitis pigmentosa / retinal pigmentary changes - Ventricular septal defect / interventricular communication - Vesicorenal / vesicoureteral reflux
Atelosteogenesis type I
(no data available)