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2 OMIM references -
2 associated genes
36 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Miller-Dieker syndrome

1 OMIM reference -
3 associated genes
18 signs/symptoms

Acrodysostosis

Miller-Dieker syndrome

PDE4D	(UniProt - OMIM)		HIC1	(UniProt - OMIM)
PRKAR1A	(UniProt - OMIM)		PAFAH1B1	(UniProt - OMIM)
			YWHAE	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PDE4D	(0.68)	PAFAH1B1

Citations in the biomedical literature:

Acrodysostosis		Miller-Dieker syndrome
	Synonym(s): - Acrodysplasia - Arkless-Graham syndrome - Maroteaux-Malamut syndrome		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 - 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): - 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 dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - 1 MeSH reference: C538179		External references: 1 OMIM reference - 1 MeSH reference: D054221


COMMON SIGNS	- Anteverted nares / nostrils - Epicanthic folds - Short / small nose

Acrodysostosis		Miller-Dieker syndrome
	Very frequent - Abnormal vertebral size / shape - Advanced bone age - Broad nose / nasal bridge - Cone epiphyses / epiphysis - Depressed nasal bridge - Flattened nose - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Intellectual deficit / mental / psychomotor retardation / learning disability - Metacarpal anomalies / Archibald's sign - Mid-facial hypoplasia / short / small midface - Mouth held open - Nails anomalies - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism Frequent - Brachycephaly / flat occiput - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Delayed dentition / eruption of teeth / lack of eruption of teeth - Hearing loss / hypoacusia / deafness - Hypertelorism - Immunodeficiency / increased susceptibility to infections / recurrent infections - Mesomelic micromelia - Peripheral neuropathy - Prognathism / prognathia - Rachidian / spine canal stenosis - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Autosomal dominant inheritance - Dental malocclusion - Late puberty / hypogonadism / hypogenitalism - Pigmented naevi / naevus pigmentosus / lentigo		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 - Failure to thrive / difficulties for feeding in infancy / growth delay - High forehead - Seizures / epilepsy / absences / spasms / status epilepticus 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 - Omphalocele / exomphalos - Renal disease / nephropathy - Sacral sinus / dimple