Log In|Sign Up
ENSedoheptulokinase Deficiency (SHPKD)
Alias:
Isolated Sedoheptulokinase Deficiency
Shpkd
Deficiency, Sedoheptulokinase
Isolated Shpk Deficiency
Favorite
Sedoheptulokinase Deficiency, also known as isolated sedoheptulokinase deficiency, is related to cystinosis and cystinosis, adult nonnephropathic. An important gene associated with Sedoheptulokinase Deficiency is SHPK (Sedoheptulokinase). Affiliated tissues include liver, and related phenotypes are flexion contracture and arthrogryposis multiplex congenita
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
