Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

GAUCHER DISEASE, TYPE IIIC
Synonyms

GD3C
ID

http://purl.bioontology.org/ontology/OMIM/231005
altLabel

GD3C
cui

C1856476
Gene Locus

1q21
Gene Symbol

GBA
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU012788

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU012787

http://purl.bioontology.org/ontology/OMIM/MTHU004441

http://purl.bioontology.org/ontology/OMIM/MTHU012790

http://purl.bioontology.org/ontology/OMIM/MTHU012793

http://purl.bioontology.org/ontology/OMIM/MTHU012791

http://purl.bioontology.org/ontology/OMIM/MTHU012786

http://purl.bioontology.org/ontology/OMIM/MTHU036393

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU012792

http://purl.bioontology.org/ontology/OMIM/MTHU004893

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU012795

http://purl.bioontology.org/ontology/OMIM/MTHU012789

http://purl.bioontology.org/ontology/OMIM/MTHU000335

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU036683

http://purl.bioontology.org/ontology/OMIM/MTHU012794

http://purl.bioontology.org/ontology/OMIM/MTHU000242
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

231005
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

GAUCHER DISEASE, TYPE IIIC
Scope Statement

Cardiac manifestations are often fatal [MISCELLANEOUS]

Associated specifically with the GBA D409H mutation (606463.0006) [MISCELLANEOUS]

Onset of abnormal eye movements in early childhood [MISCELLANEOUS]

Considered to be a variant of Gaucher disease type III (231000) [MISCELLANEOUS]

Onset of cardiac symptoms in adolescence [MISCELLANEOUS]

Visceral manifestations are less apparent [MISCELLANEOUS]

Caused by mutation in the acid beta-glucosidase gene (GBA, 606463.0006) [MOLECULAR BASIS]
tui

T047
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