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Craniorachischisis

1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Miller-Dieker syndrome

1 OMIM reference -
3 associated genes
18 signs/symptoms

Craniorachischisis

Miller-Dieker syndrome

DACT1	(UniProt - OMIM)		HIC1	(UniProt - OMIM)
			PAFAH1B1	(UniProt - OMIM)
			YWHAE	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DACT1	(0.63)	YWHAE

Citations in the biomedical literature:

Craniorachischisis		Miller-Dieker syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Lissencephaly due to 17p13.3 deletion - Monosomy 17p13.3 - Telomeric deletion 17p

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: multigenic/multifactorial		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D054221


COMMON SIGNS	- Omphalocele / exomphalos

Craniorachischisis		Miller-Dieker syndrome
	Very frequent - Anencephaly / acrania - Early death / lethality - Spina bifida Occasional - Diaphragmatic hernia / defect / agenesis - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Sirenomelia / mermaid / lower limb fusion		Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Anomalies of mouth, lip and philtrum - Anteverted nares / nostrils - 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 - Short / small nose Frequent - Polyhydramnios - 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 - Renal disease / nephropathy - Sacral sinus / dimple