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

Autosomal recessive distal renal tubular acidosis with deafness


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GBA	(0.63)	ATP6V1B1

Citations in the biomedical literature:

Fetal Gaucher disease		Autosomal recessive distal renal tubular acidosis with deafness
	Synonym(s): - Perinatal lethal Gaucher disease		Synonym(s): - AR dRTA with hearing loss - AR dRTA wth deafness - Autosomal recessive distal renal tubular acidosis with hearing loss - Renal tubular acidosis type 1b

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the genitourinary system -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: normal 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
Autosomal recessive distal renal tubular acidosis with deafness
(no data available)