Details of Disease

General Information of Disease (ID: DISKSZ4J)

Disease Name Gaucher disease perinatal lethal
Synonyms
fetal Gaucher disease; Gaucher's disease perinatal lethal; Gaucher disease, perinatal lethal; Gaucher disease, perinatal-lethal form; perinatal lethal Gaucher disease; Gaucher disease perinatal lethal; Gaucher disease, collodion type; Gaucher disease collodion type; foetal Gaucher disease
Definition
Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'integumentary system disorder' (MONDO:0002051) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0003-4830-7530)
Disease Hierarchy
DISTW5JG: Gaucher disease
DISKSZ4J: Gaucher disease perinatal lethal
Disease Identifiers
MONDO ID
MONDO_0011945
MESH ID
C564306
UMLS CUI
C1842704
OMIM ID
608013
MedGen ID
374996
Orphanet ID
85212
SNOMED CT ID
870313002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GBA TT1B5PU Strong Biomarker [1]
GBA1 TTCYHJ4 Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GBA1 OT0XMD63 Definitive Autosomal recessive [2]
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References

1 Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.