ODCs

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1 OMIM reference -
1 associated gene
16 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Fetal Gaucher disease

Syndromic multisystem autoimmune disease due to Itch deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GBA	(0.63)	ITCH

Citations in the biomedical literature:

Fetal Gaucher disease		Syndromic multisystem autoimmune disease due to Itch deficiency
	Synonym(s): - Perinatal lethal Gaucher disease		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare gastroenterologic disease - Rare genetic disease - Rare immune disease - Rare neurologic disease - Rare respiratory disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): (no data available)

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

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

Fetal Gaucher disease
	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 - Hypertonia / spasticity / rigidity / stiffness - Hypotonia - Low set ears / posteriorly rotated ears - Seizures / epilepsy / absences / spasms / status epilepticus - Splenomegaly - Structural and functional anomalies of the spleen
Syndromic multisystem autoimmune disease due to Itch deficiency
(no data available)