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Holoprosencephaly 3 (HPE3)

Alias:
Hpe3
Holoprosencephaly-3
Hlp3
Holoprosencephaly, Type 3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Holoprosencephaly 3, also known as hpe3, is related to holoprosencephaly 1 and holoprosencephaly. An important gene associated with Holoprosencephaly 3 is SHH (Sonic Hedgehog Signaling Molecule), and among its related pathways/superpathways are Signaling by Hedgehog and Wnt / Hedgehog / Notch. Affiliated tissues include brain and liver, and related phenotypes are intellectual disability and global developmental delay
Related ID：
MALACARDS：HLP026
OMIM：142945
MESH：C564181

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
14
167
49
HLP026

Medical Symptom

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

Gene & Mutation

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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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