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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMorbus Gaucher, DD hydrops fetalis

Summary

Short information

A panel comprising 14 curated genes for the DD of hydrops fetalis in the context of Morbus Gaucher

ID
GP1002
Number of genes
15 Accredited laboratory test
Examined sequence length
3,2 kb (Core-/Core-canditate-Genes)
25,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • Amniotic fluid (after amnocentesis)
  • Chorionic villus
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
GBA11611NM_001005741.3AR
PSAP1575NM_002778.4AR
ASAH11188NM_177924.5AR
CTSA1497NM_000308.4AR
GALNS1569NM_000512.5AR
GLA1290NM_000169.3XL
GLB12034NM_000404.4AR
GNPTAB3771NM_024312.5AR
GUSB1956NM_000181.4AR
LIPA1200NM_000235.4AR
NEU11248NM_000434.4AR
NPC13837NM_000271.5AR
NPC2456NM_006432.5AR
PMM2741NM_000303.3AR
SLC17A51488NM_012434.5AR

Informations about the disease

Clinical Comment

Gaucher disease patients do not produce enough glucocerebrosidase, so glucocerebrosides accumulate in so-called Gaucher cells in the liver, spleen, lungs and bone marrow. Bone damage can be particularly painful; in rare cases Gaucher cells can also accumulate in the brain and lead to the more severe form of the disease. Three forms of Gaucher disease are distinguished. Type 1 is the most common form in the western world (90%), usually with a normal lifespan. Symptoms can start at any age with anaemia, bruising, bleeding, pain and growth disturbances. Type 2 disease is very rare and characterised by damage to the central nervous system, which is usually fatal in the first two to four years of life. Although type 2 occurs worldwide, it is very rare. Type 3 is rare in the West, more common in Asia and in a province of Sweden. In this type, the neurological symptoms develop slowly, usually in childhood, and continue into adulthood. Gaucher disease is transmitted autosomal recessively. Virtually all sequence changes in the GBA gene are point mutations that can be fully detected.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1269/

 

Synonyms
  • Alias: Acid beta-glucosidase deficiency (GBA1)
  • Alias: Gaucher Krankheit (GBA1)
  • Alias: Glucocerebrosidase deficiency (GBA1)
  • Alias: Lysosomal storage disorder, deficient activity of beta-glucocerebrosidase (GBA1)
  • Allelic: Aneurysm, intracranial berry, 12 (THSD1)
  • Allelic: Parkinson disease 24, autosomal dominant, susceptibility to (PSAP)
  • Allelic: Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
  • Cholesteryl ester storage disease (LIPA)
  • Combined SAP deficiency (PSAP)
  • Congenital disorder of glycosylation, type Ia (PMM2)
  • Fabry disease (GLA)
  • Fabry disease, cardiac variant (GLA)
  • Farber lipogranulomatosis (ASAH1)
  • GM1-gangliosidosis, type I (GLB1)
  • GM1-gangliosidosis, type II (GLB1)
  • GM1-gangliosidosis, type III (GLB1)
  • Galactosialidosis (CTSA)
  • Gaucher disease, atypical (PSAP)
  • Gaucher disease, perinatal lethal (GBA1)
  • Gaucher disease, type I (GBA1)
  • Gaucher disease, type II (GBA1)
  • Gaucher disease, type III (GBA1)
  • Gaucher disease, type IIIC (GBA1)
  • Hydrops fetalis, nonimmune + cardiac defects, hemangiomas (THSD1)
  • Krabbe disease, atypical (PSAP)
  • Lymphatic malformation 13 (THSD1)
  • Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
  • Mucolipidosis II alpha/beta (GNPTAB)
  • Mucolipidosis III alpha/beta (GNPTAB)
  • Mucopolysaccharidosis IVA (GALNS)
  • Mucopolysaccharidosis VII (GUSB)
  • Mucopolysaccharidosis type IVB, Morquio (GLB1)
  • Niemann-Pick disease, type C1 (NPC1)
  • Niemann-Pick disease, type D (NPC1)
  • Niemann-pick disease, type C2 (NPC2)
  • Non-immune hydrops fetalis [GenCC] (THSD1)
  • Salla disease (SLC17A5)
  • Sialic acid storage disorder, infantile (SLC17A5)
  • Sialidosis, type I (NEU1)
  • Sialidosis, type II (NEU1)
  • Wolman disease (LIPA)
Heredity, heredity patterns etc.
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined