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Atelosteogenesis type I

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

PROTEIN INTERACTIONS: 1

Neuralgic amyotrophy

1 OMIM reference -
1 associated gene
15 signs/symptoms

Atelosteogenesis type I

Neuralgic amyotrophy

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.49)	SEPT9

Citations in the biomedical literature:

Atelosteogenesis type I		Neuralgic amyotrophy
	Synonym(s): - AO1 - AOI - Giant cell chondrodysplasia - Spondylo-humero-femoral dysplasia		Synonym(s): - Acute brachial plexus neuritis - Brachial plexus neuritis - Immune brachial plexus neuropathy - Mononeuritis multiplex with brachial predilection - Neuralgic shoulder amyotrophy - Serum neuritis - Winged scapula

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	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: 6-9 / 10 000 Average age onset: adulthood Average age of death: normal Type of inheritance: autosomal dominant

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

Neuralgic amyotrophy
	Very frequent - Abnormal EMG / electromyogram / electropmyography - Articular / joint pain / arthralgia - Muscle weakness / flaccidity - Neuritis / polyneuritis / multineuritis Frequent - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly Occasional - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Cleft lip and palate - Elocution disorders / dysarthria / dysphonia - Microstomia / little mouth - Peripheral neuropathy - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Round face - Short stature / dwarfism / nanism - Sleep and vigilance disorders
Atelosteogenesis type I
(no data available)