ODCs

Click node...

1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
2 associated genes
19 signs/symptoms

Pyridoxine-dependent epilepsy

17p13.3 microduplication syndrome

ALDH7A1	(UniProt - OMIM)		PAFAH1B1	(UniProt - OMIM)
			YWHAE	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ALDH7A1	(0.63)	YWHAE

Citations in the biomedical literature:

Pyridoxine-dependent epilepsy		17p13.3 microduplication syndrome
	Synonym(s): - Glutamate decarboxylase deficiency - Pyridoxine-responsive seizures - Vitamin B6-responsive seizures		Synonym(s): - 17p13.3 duplication syndrome - Dup(17)(p13.3) - Trisomy 17p13.3

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

	External references: 1 OMIM reference - 1 MeSH reference: C536254		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Dilated cerebral ventricles without hydrocephaly - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability

Pyridoxine-dependent epilepsy		17p13.3 microduplication syndrome
	Very frequent - Autosomal recessive inheritance - EEG anomalies - Metabolic anomalies - Movement disorder - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Hepatomegaly / liver enlargement (excluding storage disease) - Strabismus / squint		Very frequent - Broad nose / nasal bridge - Frontal bossing / prominent forehead - High forehead - Hypertelorism - Microstomia / little mouth - Short / small nose Frequent - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Low set ears / posteriorly rotated ears - Short neck Occasional - Clinodactyly of fifth finger - Corpus callosum / septum pellucidum total / partial agenesis - High vaulted / narrow palate - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Inguinal / inguinoscrotal / crural hernia - Micropenis / small penis / agenesis - Tall stature / gigantism / growth acceleration