Gaucher Disease, Type Ii

Description

Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

Clinical Features

Top most frequent phenotypes and symptoms related to Gaucher Disease, Type Ii

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Strabismus
  • Spasticity
  • Anemia
  • Feeding difficulties
  • Hyperreflexia
  • Hepatomegaly
  • Dysphagia

And another 18 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Gaucher Disease, Type Ii Is also known as gaucher disease, acute neuronopathic type, gd ii.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Gaucher Disease, Type Ii Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ashkenazic Genetic Disease Screen (with Cystic Fibrosis).

By Baylor Miraca Genetics Laboratories (United States).

SMPD1, FANCC, GBA, ELP1, ASPA
Specificity
20 %
Genes
100 %
Ashkenazic Genetic Disease Screen (without Cystic Fibrosis).

By Baylor Miraca Genetics Laboratories (United States).

SMPD1, FANCC, GBA, ELP1, ASPA
Specificity
20 %
Genes
100 %
Gaucher Disease Ashkenazic Mutation Panel.

By Baylor Miraca Genetics Laboratories (United States).

GBA
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
GeneAware ACMG/ACOG Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SMN1, SMPD1, MCOLN1, CFTR, FANCC, GBA, HBA1, HBA2, HBB, HEXA, ELP1, ASPA
Specificity
8 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, FAH, FANCC, FKTN , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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