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Gaucher disease type 1
1 OMIM reference -
2 associated genes
27 connected diseases
35 signs/symptoms
Disease Type of connection
Young adult-onset Parkinsonism
Action myoclonus - renal failure syndrome
Fetal Gaucher disease
Gaucher disease - ophthalmoplegia - cardiovascular calcification
Gaucher disease type 2
Gaucher disease type 3
Unverricht-Lundborg disease
Autosomal recessive distal renal tubular acidosis with deafness
Parkinsonian-pyramidal syndrome
Atypical Gaucher disease due to saposin C deficiency
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Encephalopathy due to prosaposin deficiency
Heritable pulmonary arterial hypertension
Infantile Krabbe disease
Juvenile myelomonocytic leukemia
Limited cutaneous systemic sclerosis
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Syndromic multisystem autoimmune disease due to Itch deficiency
Amyotrophic lateral sclerosis
Autosomal dominant spastic paraplegia type 13
Extraskeletal myxoid chondrosarcoma
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Translocation renal cell carcinoma
Synonym(s):
- Non-cerebral juvenile Gaucher disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare respiratory disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GBA P04062606463
SCARB2 Q14108602257
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
- Splenomegaly
- 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