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Familial hypercholanemia

1 OMIM reference -
3 associated genes
No signs/symptoms info

COMMON GENES: 1

Fetal hydantoin syndrome

1 associated gene
32 signs/symptoms

Familial hypercholanemia

Fetal hydantoin syndrome

BAAT	(UniProt - OMIM)		EPHX1	(UniProt - OMIM)
EPHX1	(UniProt - OMIM)
TJP2	(UniProt - OMIM)


COMMON GENES	EPHX1

Citations in the biomedical literature:

Familial hypercholanemia		Fetal hydantoin syndrome
	Synonym(s): - Hereditary hypercholanemia		Synonym(s): - Fetal dihydantoin syndrome - Phenytoin embryofetopathy

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare teratologic disease

	Classification (ICD10): (no data available)		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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: No OMIM references 1 MeSH reference: C537922

Fetal hydantoin syndrome
	Very frequent - Abnormal dermatoglyphics - Anomalies of ear and hearing - Antenatal exposure : anticonvulsants - Antenatal exposure : sedatives - Flattened nose - Low set ears / posteriorly rotated ears - Short / small nose Frequent - Abnormally placed nipples - Absent / small fingernails / anonychia of hands - Anomalies of spine, vertebrae and pelvis - Bifid scrotum - Coarse / thick hair - Epicanthic folds - Excess nuchal skin without pterygium colli - Fingerlike / triphalangeal thumb - Herniae - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Large fontanelle / delayed fontanelle closure - Low hair line (back) - Macrostomia / big mouth - Microcephaly - Protruding lips - Ptosis - Short hand / brachydactyly - Short stature / dwarfism / nanism - Strabismus / squint Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Neoplasms / tumors - Structural anomalies of the cardio-circulatory system - Undescended / ectopic testes / cryptorchidia / unfixed testes
Familial hypercholanemia
(no data available)