ODCs

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Opsismodysplasia

1 OMIM reference -
1 associated gene
27 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

1 OMIM reference -
2 associated genes
15 signs/symptoms

Opsismodysplasia

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

INPPL1	(UniProt - OMIM)		AKT3	(UniProt - OMIM)
			PIK3R2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	INPPL1	(0.72)	PIK3R2

Citations in the biomedical literature:

Opsismodysplasia		Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
	Synonym(s): (no synonyms)		Synonym(s): - MPPH syndrome

	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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: sporadic

	External references: 1 OMIM reference - 1 MeSH reference: C537122		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Depressed nasal bridge - Macrocephaly / macrocrania / megalocephaly / megacephaly

Opsismodysplasia		Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
	Very frequent - Abnormal vertebral size / shape - Autosomal recessive inheritance - Delayed bone age - Epiphyseal anomaly - Frontal bossing / prominent forehead - Lack / delayed ossification of spine / vertebrae - Large fontanelle / delayed fontanelle closure - Metaphyseal anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rhizomelic micromelia - Short hand / brachydactyly - Short stature / dwarfism / nanism - Short / small nose - Tapered fingers Frequent - Brachycephaly / flat occiput - Hypotonia - Repeat respiratory infections Occasional - Blue sclerae - Broad / bifid thumb - Hepatomegaly / liver enlargement (excluding storage disease) - Narrow rib cage / thorax - Pectus excavatum - Restricted joint mobility / joint stiffness / ankylosis - Splenomegaly		Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Hydrocephaly - Postaxial polydactyly (hand) Frequent - Cardiac septal defect - Ectopic / horseshoe / fused kidneys - High forehead - Hypertelorism - Long / large / bulbous nose - Microstomia / little mouth - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Seizures / epilepsy / absences / spasms / status epilepticus - Telecanthus / canthal dystopy - Ventricular septal defect / interventricular communication