Log In|Sign Up
ENAsplenia, Isolated Congenital (ICAS)
Alias:
Familial Isolated Congenital Asplenia
Splenic Hypoplasia
Icas
Hyposplenia, Isolated Congenital
Isolated Congenital Asplenia
Asplenia, Familial
Congenital Hypoplasia of Spleen
Congenital Isolated Hyposplenia
Hypoplasia of Spleen
Spenlic Hypoplasia
Familial Asplenia
Favorite
Asplenia, Isolated Congenital, also known as familial isolated congenital asplenia, is related to right atrial isomerism and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Asplenia, Isolated Congenital is RPSA (Ribosomal Protein SA). The drugs Atorvastatin and Evolocumab have been mentioned in the context of this disorder. Affiliated tissues include spleen and spinal cord, and related phenotypes are thrombocytosis and asplenia
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
