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Donnai-barrow syndrome
Donnai-barrow syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
DONNAI-BARROW SYNDROME
2143
222448
C1857277
MESH:C536390
MONDO:0009104
LRP2
Causal
20301732
29388841
23992033
19577669
17632512
CTD
,
ClinVar
,
Disgenet
,
HPO
,
Orphanet
Hedgehog signaling pathway
Thyroid hormone synthesis
Cholesterol metabolism
Vitamin D (calciferol) metabolism
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Retinoid metabolism and transport
+4 more
LMBRD1
Unknown
—
Disgenet
Vitamin digestion and absorption
Cobalamin transport and metabolism
Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF
+1 more
All
2
Causal
1
Unknown
1
Select all
Clear
ClinVar
1
Orphanet
1
Disgenet
2
CTD
1
HPO
1
GWAS catalog
0
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Donnai-barrow syndrome.
5
View disease cluster →
methylmalonic aciduria and homocystinuria type cblF
1 shared gene
LMBRD1
Related via 1 shared gene including LMBRD1.
Vitamin d deficiency
1 shared gene
LRP2
Related via 1 shared gene including LRP2.
Cobalamin c disease
1 shared gene
LMBRD1
Related via 1 shared gene including LMBRD1.
Intracellular cobalamin metabolism disorder
1 shared gene
LMBRD1
Related via 1 shared gene including LMBRD1.
Metabolic bone disorder
1 shared gene
LRP2
Related via 1 shared gene including LRP2.
1
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