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Achondrogenesis type 1A

1 OMIM reference -
1 associated gene
28 signs/symptoms

PROTEIN INTERACTIONS: 1

Alternating hemiplegia of childhood

2 OMIM references -
4 associated genes
No signs/symptoms info

Achondrogenesis type 1A

Alternating hemiplegia of childhood

TRIP11	(UniProt - OMIM)		ATP1A2	(UniProt - OMIM)
			ATP1A3	(UniProt - OMIM)
			CACNA1A	(UniProt - OMIM)
			SLC1A3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TRIP11	(0.63)	ATP1A2

Citations in the biomedical literature:

Achondrogenesis type 1A		Alternating hemiplegia of childhood
	Synonym(s): - Achondrogenesis, Houston-Harris type		Synonym(s): - AHC - Alternating hemiplegia in childhood

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536015		External references: 2 OMIM references - 1 MeSH reference: C536589

Achondrogenesis type 1A
	Very frequent - Abnormal / absent ossification - Anteverted nares / nostrils - Autosomal recessive inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Excess nuchal skin without pterygium colli - Flat face - Frontal bossing / prominent forehead - Hydrops fetalis - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Long philtrum - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Short limbs / micromelia / brachymelia - Short neck - Short rib cage / thorax - Short stature / dwarfism / nanism - Short / small nose - Stillbirth / neonatal death Frequent - Inguinal / inguinoscrotal / crural hernia - Mutiple fractures / bone fragility - Polyhydramnios - Rib structure anomalies - Short foot / brachydactyly of toes - Short hand / brachydactyly - Umbilical hernia Occasional - Congenital cardiac anomaly / malformation / cardiopathy - Cystic hygroma
Alternating hemiplegia of childhood
(no data available)