Incontinentia Pigmenti (IP)

Alias:
Bloch-Sulzberger Syndrome
Bloch-Siemens Syndrome
Incontinentia Pigmenti Syndrome
Ip
Incontinentia Pigmenti, Familial Male-Lethal Type
Familial Incontinentia Pigmenti Male-Lethal Type
Incontinentia Pigmenti of Bloch-Sulzberger
Incontinentia Pigmenti, Type Ii, Formerly
Familial Incontinentia Pigmenti Type Ii
Incontinentia Pigmenti Achromians
Bloch-Siemens-Sulzberger Syndrome
Nevus Pigmentosus Systematicus
Bloch Sulzberger Syndrome
Ip2, Formerly
Ip2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Incontinentia Pigmenti, also known as bloch-sulzberger syndrome, is related to tooth agenesis and anodontia, and has symptoms including muscle spasticity and seizures. An important gene associated with Incontinentia Pigmenti is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma), and among its related pathways/superpathways are Innate Immune System and Signal Transduction. Affiliated tissues include skin and eye, and related phenotypes are abnormality of the nail and abnormal fingernail morphology
Related ID:
MESH:D007184
ICD11:1542530268

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLR
Newborn
1-9/1000000
18
218
103

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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