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Gaucher disease type 1
1 OMIM reference -
2 associated genes
35 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 3
Fetal Gaucher disease
1 OMIM reference -
1 associated gene
16 signs/symptoms
Gaucher disease type 1
Fetal Gaucher disease

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

COMMON
GENES 		GBA


Citations in the biomedical literature:


Gaucher disease type 1
GBA SCARB2
Fetal Gaucher disease



Gaucher disease type 1
Fetal Gaucher disease

Synonym(s):
- Non-cerebral juvenile Gaucher disease
Synonym(s):
- Perinatal lethal Gaucher 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 genetic disease
- Rare skin 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:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Hepatomegaly / liver enlargement (excluding storage disease)
- Splenomegaly
- Thrombocytopenia / thrombopenia

Gaucher disease type 1
Fetal Gaucher disease

Very frequent
- Asthenia / fatigue / weakness
- Bone pain
- Delayed bone age
- Failure to thrive / difficulties for feeding in infancy / growth delay
- 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

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
- Death in infancy
- Hydrops fetalis
- Ichthyosis / ichthyosiform dermatitis
- Intracranial / cerebral / meningeal hemorrhage
- Stillbirth / neonatal death

Frequent
- Depressed nasal bridge
- Ectropion / entropion / eyelid eversion
- High vaulted / narrow palate
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Low set ears / posteriorly rotated ears
- Seizures / epilepsy / absences / spasms / status epilepticus
- Structural and functional anomalies of the spleen