Chromosome 1p36 Deletion Syndrome

Alias:
1p36 Deletion Syndrome
Subtelomeric 1p36 Deletion
Deletion 1p36
Monosomy 1p36
Deletion 1pter
Monosomy 1pter
Del(1)(p36)
Monosomy 1p36 Syndrome
Distal Monosomy 1p36
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chromosome 1p36 Deletion Syndrome, also known as 1p36 deletion syndrome, is related to chromosome 1p36 deletion syndrome, proximal and chromosome 1p36 deletion syndrome, distal, and has symptoms including seizures An important gene associated with Chromosome 1p36 Deletion Syndrome is SPEN (Spen Family Transcriptional Repressor), and among its related pathways/superpathways are 1p36 copy number variation syndrome and Thromboxane A2 receptor signaling. Affiliated tissues include heart and brain, and related phenotypes are intellectual disability and agenesis of corpus callosum
Related ID:
MESH:C535362

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Antenatal
1-5/10000
87
664
2

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
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Publications
No data available

References Literature

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