GAUCHER DISEASE TYPE I

Question 1

What is  GAUCHER DISEASE TYPE I?

Accepted Answer

1:600 (>350 patients)
autosomal recessive
type I is mainly found in Ashkenazic Jews
3 types:
- chronic/adult (I) MIM 230800
- acute/infantile(II) MIM 230900
- juvenile (III) MIM 231000
- cardiovascular (IIIC) MIM 231005

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Gaucher-Krankheit Typ 1, Nicht-neuronopathische Gaucher-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 230800

Question 4

Which enzymes are involved?

Accepted Answer

Lysosomal acid glucosylceramidase

Disease	GAUCHER DISEASE TYPE I
OMIM	230800 OMIM = Online Mendelian Inheritance of Men
Orphanet	77259
Protein (UniProt)	Lysosomal acid glucosylceramidase
ExPASy	3.2.1.45
Gene locus	1q22
ICD	E75.2
Summary	1:600 (>350 patients) autosomal recessive type I is mainly found in Ashkenazic Jews 3 types: - chronic/adult (I) MIM 230800 - acute/infantile(II) MIM 230900 - juvenile (III) MIM 231000 - cardiovascular (IIIC) MIM 231005
Laboratory findings	1-Methylhydantoin inc (blood) bleeding time dec (blood) Gaucher cells, bone marrow, spleen (bone marrow) Glucosylceramidase dec (fibroblasts) Glucosylceramidase dec (leucocytes)
Symptoms	anemia arthritis bleeding tendencies, hemorrhages bone fractures cirrhosis or fibrosis of liver DNA growth retardation, poor growth heart involvement hepatomegaly (large liver) hyperpigmentation neurological deterioration neutropenia (decreased neutrophils) onset, adolescent onset, adulthood onset, childhood pain, bones or joints pigmentation, skin and sclera pulmonary hypertension respiratory insufficiency restrictive lung disease skeletal changes, skeletal abnormalities splenomegaly (large spleen) thrombopenia, thrombocytopenia