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Gaucher disease type 1

1 OMIM reference -
2 associated genes
35 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

Gaucher disease - ophthalmoplegia - cardiovascular calcification

1 OMIM reference -
1 associated gene
13 signs/symptoms

Gaucher disease type 1

Gaucher disease - ophthalmoplegia - cardiovascular calcification

GBA	(UniProt - OMIM)		GBA	(UniProt - OMIM)
SCARB2	(UniProt - OMIM)


COMMON GENES	GBA

Citations in the biomedical literature:

Gaucher disease type 1		Gaucher disease - ophthalmoplegia - cardiovascular calcification
	Synonym(s): - Non-cerebral juvenile Gaucher disease		Synonym(s): - Cardiovascular Gaucher disease - Gaucher disease type 3C - Gaucher-like disease

	Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare respiratory 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: Class of prevalence: 1-9 / 100 000 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: 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	- Splenomegaly

Gaucher disease type 1		Gaucher disease - ophthalmoplegia - cardiovascular calcification
	Very frequent - Asthenia / fatigue / weakness - Bone pain - Delayed bone age - Failure to thrive / difficulties for feeding in infancy / growth delay - Hepatomegaly / liver enlargement (excluding storage disease) - Late puberty / hypogonadism / hypogenitalism - Mutiple fractures / bone fragility - Osteolysis / osteoclasia / bone destruction / erosions - Osteonecrosis / bone infarction - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Osteosclerosis / osteopetrosis / bone condensation - Thrombocytopenia / thrombopenia Frequent - Acute abdominal pain / colic - Anaemia - Bone marrow failure / pancytopenia - Bruisability - Gingivorrhagia / gingival bleeding - Kyphosis Occasional - Ascitis - Biliary / gallbladder stones / lithiasis / cholecystitis - Cirrhosis - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Edema of the legs / lower limbs - Hematuria / microhematuria - Hepatitis / icterus / cholestasis - Hypergammaglobulinemia - Interstitial / restrictive pneumopathy / restrictive respiratory syndrome - Leukopenia / hypoleukocytosis - Monoclonal immunoglobulins / gammapathy / dysglobulinemia - Myocardium anomalies / myocarditis - Osteoarthritis - Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion - Proteinuria - Pulmonary hypertension		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 - Hypertonia / spasticity / rigidity / stiffness - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Heart / cardiac failure