ODCs

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Gaucher disease type 3

1 OMIM reference -
1 associated gene
34 signs/symptoms

PROTEIN INTERACTIONS: 1

Autosomal recessive distal renal tubular acidosis with deafness

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

Gaucher disease type 3

Autosomal recessive distal renal tubular acidosis with deafness

GBA

(UniProt - OMIM)

ATP6V1B1

(UniProt - OMIM)


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

Citations in the biomedical literature:

Gaucher disease type 3		Autosomal recessive distal renal tubular acidosis with deafness
	Synonym(s): - Cerebral juvenile and adult form of Gaucher disease - Chronic neuronopathic Gaucher disease - Gaucher disease, subacute neuronopathic type		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 bone disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare respiratory 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: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive		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

Gaucher disease type 3
	Very frequent - Abnormal eye movements / oculomotor disorder - Asthenia / fatigue / weakness - Bone pain - Hepatomegaly / liver enlargement (excluding storage disease) - Mutiple fractures / bone fragility - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Osteolysis / osteoclasia / bone destruction / erosions - Osteonecrosis / bone infarction - Osteosclerosis / osteopetrosis / bone condensation - Splenomegaly - Strabismus / squint Frequent - Abnormal gait - Anaemia - Ataxia / incoordination / trouble of the equilibrium - Bone marrow failure / pancytopenia - Delayed bone age - Failure to thrive / difficulties for feeding in infancy / growth delay - Hydrops fetalis - Hypergammaglobulinemia - Hypertonia / spasticity / rigidity / stiffness - Leukopenia / hypoleukocytosis - Monoclonal immunoglobulins / gammapathy / dysglobulinemia - Psychic / psychomotor regression / dementia / intellectual decline - Seizures / epilepsy / absences / spasms / status epilepticus - Thrombocytopenia / thrombopenia Occasional - Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis - Cardiac valvulopathy - Hematuria / microhematuria - Interstitial / restrictive pneumopathy / restrictive respiratory syndrome - Myocardium anomalies / myocarditis - Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion - Proteinuria - Pulmonary hypertension - Repeat respiratory infections
Autosomal recessive distal renal tubular acidosis with deafness
(no data available)