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Lobar Holoprosencephaly

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lobar Holoprosencephaly is related to cleft lip and ventricular septal defect. An important gene associated with Lobar Holoprosencephaly is PTCH1 (Patched 1), and among its related pathways/superpathways are Nervous system development and Signal Transduction. Affiliated tissues include brain and olfactory bulb, and related phenotypes are hypotelorism and feeding difficulties
Related ID：
MALACARDS：LBR025

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Newborn
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16
267
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LBR025

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

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PMID
Journal
Year
IF
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