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Achondrogenesis type 1A

1 OMIM reference -
1 associated gene
28 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Miller-Dieker syndrome

1 OMIM reference -
3 associated genes
18 signs/symptoms

Achondrogenesis type 1A

Miller-Dieker syndrome

TRIP11	(UniProt - OMIM)		HIC1	(UniProt - OMIM)
			PAFAH1B1	(UniProt - OMIM)
			YWHAE	(UniProt - OMIM)


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

Citations in the biomedical literature:

Achondrogenesis type 1A		Miller-Dieker syndrome
	Synonym(s): - Achondrogenesis, Houston-Harris type		Synonym(s): - Lissencephaly due to 17p13.3 deletion - Monosomy 17p13.3 - Telomeric deletion 17p

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

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

	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: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536015		External references: 1 OMIM reference - 1 MeSH reference: D054221


COMMON SIGNS	- Anteverted nares / nostrils - Polyhydramnios - Short / small nose

Achondrogenesis type 1A		Miller-Dieker syndrome
	Very frequent - Abnormal / absent ossification - 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 - Stillbirth / neonatal death Frequent - Inguinal / inguinoscrotal / crural hernia - Mutiple fractures / bone fragility - Rib structure anomalies - Short foot / brachydactyly of toes - Short hand / brachydactyly - Umbilical hernia Occasional - Congenital cardiac anomaly / malformation / cardiopathy - Cystic hygroma		Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Anomalies of mouth, lip and philtrum - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - EEG anomalies - Epicanthic folds - Failure to thrive / difficulties for feeding in infancy / growth delay - High forehead - Seizures / epilepsy / absences / spasms / status epilepticus Frequent - Structural anomalies of the cardio-circulatory system Occasional - Ataxia / incoordination / trouble of the equilibrium - Clinodactyly of fifth finger - Corpus callosum / septum pellucidum total / partial agenesis - Omphalocele / exomphalos - Renal disease / nephropathy - Sacral sinus / dimple