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Macrothrombocytopenia, isolated
Macrothrombocytopenia, isolated
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Subtype of:
Macrothrombocytopenia
Include the contents of this disease's 2 subtypes
in the table below
Show the subtypes
Macrothrombocytopenia, isolated, 1, autosomal dominant
Macrothrombocytopenia, isolated, 2, autosomal dominant
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
macrothrombocytopenia, isolated
GNE
Unknown
—
ClinGen
Amino sugar and nucleotide sugar metabolism
Biosynthesis of various nucleotide sugars
Metabolic pathways
Biosynthesis of nucleotide sugars
Sialic acid metabolism
Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2
+3 more
TRPM7
Unknown
—
ClinGen
Necroptosis
Cellular senescence
NOD-like receptor signaling pathway
Mineral absorption
TRP channels
+2 more
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
2
Open Targets
0
Related Diseases
Diseases that share the most curated genes with Macrothrombocytopenia, isolated.
5
View disease cluster →
Sialuria
1 shared gene
GNE
Related via 1 shared gene including GNE.
Quadriceps sparing myopathy
1 shared gene
GNE
Related via 1 shared gene including GNE.
Thrombocytopenia 12 with or without myopathy
1 shared gene
GNE
Related via 1 shared gene including GNE.
Colonic polyps
1 shared gene
TRPM7
Related via 1 shared gene including TRPM7.
Parkinson-dementia complex of guam
1 shared gene
TRPM7
Related via 1 shared gene including TRPM7.
1
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