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Atelosteogenesis type I

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

PROTEIN INTERACTIONS: 1

Fragile X syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

Atelosteogenesis type I

Fragile X syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.63)	FMR1

Citations in the biomedical literature:

Atelosteogenesis type I		Fragile X syndrome
	Synonym(s): - AO1 - AOI - Giant cell chondrodysplasia - Spondylo-humero-femoral dysplasia		Synonym(s): - FRAXA syndrome - FXS - FraX syndrome - Martin-Bell 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 eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic 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: 1-5 / 10 000 Average age onset: childhood Average age of death: normal Type of inheritance: x-linked dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535396		External references: 1 OMIM reference - 1 MeSH reference: D005600

Fragile X syndrome
	Very frequent - Chronic / relapsing otitis - Flat foot - Fragile chromosome X site - Hyperextensible joints / articular hyperlaxity - Intellectual deficit / mental / psychomotor retardation / learning disability - Macroorchidism / macrotestes - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - X-linked dominant inheritance Frequent - Frontal bossing / prominent forehead - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hyperactivity / attention deficit - Hypotonia - Long face - Macrocephaly / macrocrania / megalocephaly / megacephaly - Narrow face - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Prognathism / prognathia - Prominent / bat ears Occasional - Aortic root dilatation / dilation / aneurysm - Autism / autistic disoders - Auto-aggressivity / auto-mutilation - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Psychosis / schizophrenia / maniac disorder - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint
Atelosteogenesis type I
(no data available)