ODCs

Click node...

1 OMIM reference -
1 associated gene
16 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
13 signs/symptoms

Fetal Gaucher disease

Gaucher disease - ophthalmoplegia - cardiovascular calcification

GBA

GBA

Citations in the biomedical literature:

Fetal Gaucher disease		Gaucher disease - ophthalmoplegia - cardiovascular calcification
	Synonym(s): - Perinatal lethal Gaucher disease		Synonym(s): - Cardiovascular Gaucher disease - Gaucher disease type 3C - Gaucher-like disease

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Hypertonia / spasticity / rigidity / stiffness - Seizures / epilepsy / absences / spasms / status epilepticus - Splenomegaly

Fetal Gaucher disease		Gaucher disease - ophthalmoplegia - cardiovascular calcification
	Very frequent - Death in infancy - Hydrops fetalis - Ichthyosis / ichthyosiform dermatitis - Intracranial / cerebral / meningeal hemorrhage - Stillbirth / neonatal death - Thrombocytopenia / thrombopenia Frequent - Depressed nasal bridge - Ectropion / entropion / eyelid eversion - Hepatomegaly / liver enlargement (excluding storage disease) - High vaulted / narrow palate - Hypotonia - Low set ears / posteriorly rotated ears - Structural and functional anomalies of the spleen		Very frequent - Abnormal eye movements / oculomotor disorder - Aortic arches anomalies - Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis - Autosomal recessive inheritance - Cardiac valvulopathy - Mitral valve atresia / stenosis / narrowing - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy Frequent - Hearing loss / hypoacusia / deafness - Hydrocephaly Occasional - Heart / cardiac failure