ODCs

Click node...

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

Hereditary neuropathy with liability to pressure palsies


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.63)	PMP22

Citations in the biomedical literature:

Atelosteogenesis type I		Hereditary neuropathy with liability to pressure palsies
	Synonym(s): - AO1 - AOI - Giant cell chondrodysplasia - Spondylo-humero-femoral dysplasia		Synonym(s): - Current pressure-sensitive neuropathy - HNPP - Heterozygous microdeletion 17p11.2p12 - Potato-grubbing palsy - Tomaculous neuropathy - Tulip-bulb digger's palsy

	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 genetic disease - 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: 1-9 / 100 000 Average age onset: variable 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

Hereditary neuropathy with liability to pressure palsies
	Very frequent - Autosomal dominant inheritance - Insterstitial / subtelomeric microdeletion / deletion - Nerve conduction abnormality - Peripheral neuropathy Frequent - Motor deficit / trouble - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Scoliosis Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Areflexia / hyporeflexia - Cranial nerves palsy - Flat palm - Pes cavus - Respiratory distress / dyspnea / respiratory failure / lung volume reduction
Atelosteogenesis type I
(no data available)