GeDiPNet
☰
Home
Browse
Genes
Diseases
Proteins
SNPs / Variants
Pathways ►
Reactome
KEGG
Analysis
Statistics
Resources
Blogs
Login
Contact Us
Search
Home
/
Diseases
/
Pfaundler-hurler syndrome
Pfaundler-hurler syndrome
Log in to bookmark this disease
Bookmark This Disease
Title
Project / Tag (optional)
Note (optional)
Cancel
Save
Download ▾
Download as CSV
Download as PDF
Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
PFAUNDLER-HURLER SYNDROME
C0086795
IDUA
Unknown
—
Disgenet
Glycosaminoglycan degradation
Metabolic pathways
Lysosome
HS-GAG degradation
CS/DS degradation
MPS I - Hurler syndrome
+3 more
PITX1
Unknown
—
Disgenet
—
SLC26A1
Unknown
—
Disgenet
Chemical carcinogenesis - reactive oxygen species
Transport and synthesis of PAPS
Multifunctional anion exchangers
All
3
Causal
0
Unknown
3
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
3
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Pfaundler-hurler syndrome.
5
View disease cluster →
mucopolysaccharidosis type 1
1 shared gene
IDUA
Related via 1 shared gene including IDUA.
Brachydactyly-elbow wrist dysplasia syndrome
1 shared gene
PITX1
Related via 1 shared gene including PITX1.
Hyperoxaluria
2 shared genes
IDUA, SLC26A1
Related via 2 shared genes including IDUA, SLC26A1.
Gitelman syndrome
1 shared gene
IDUA
Related via 1 shared gene including IDUA.
Clubfoot
1 shared gene
PITX1
Related via 1 shared gene including PITX1.
1
GeDiPNet AI Assistant
Online