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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
35 signs/symptoms
Autosomal dominant spastic paraplegia type 13
Gaucher disease type 1

HSPD1 GBA
SCARB2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSPD1
(0.49)
SCARB2



Citations in the biomedical literature:


Autosomal dominant spastic paraplegia type 13
HSPD1
Gaucher disease type 1
GBA SCARB2



Autosomal dominant spastic paraplegia type 13
Gaucher disease type 1

Synonym(s):
- SPG13

Synonym(s):
- Non-cerebral juvenile Gaucher disease

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare respiratory disease

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
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 -
1 MeSH reference: C537485
External references:
1 OMIM reference -
No MeSH references

Gaucher disease type 1

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


Autosomal dominant spastic paraplegia type 13

(no data available)