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Holoprosencephaly 12 with or Without Pancreatic Agenesis (HPE12)

Alias:
Holoprosencephaly 12, with or Without Pancreatic Agenesis
Hpe12
Pancreatic Agenesis-Holoprosencephaly Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Holoprosencephaly 12 with or Without Pancreatic Agenesis, is also known as holoprosencephaly 12, with or without pancreatic agenesis. An important gene associated with Holoprosencephaly 12 with or Without Pancreatic Agenesis is CNOT1 (CCR4-NOT Transcription Complex Subunit 1). Affiliated tissues include pancreas and brain, and related phenotypes are agenesis of corpus callosum and intrauterine growth retardation
Related ID：
MALACARDS：HLP031
OMIM：618500
MESH：D016142

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
<1/1000000
1
6
4
HLP031

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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