Brain Malformations with or Without Urinary Tract Defects (BRMUTD)

Alias:
Chromosome 1p32-P31 Deletion Syndrome
Nfia-Related Disorder
Chromosome 1, Monosomy 1p32
1p31p32 Microdeletion Syndrome
Brmutd
Nfia Haploinsufficiency
Nfia-Related Disorders
Monosomy 1p31p32
Del(1)(p31p32)
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Brain Malformations with or Without Urinary Tract Defects, also known as chromosome 1p32-p31 deletion syndrome, is related to cerebellar dysfunction with variable cognitive and behavioral abnormalities and hydrocephalus, congenital, 1. An important gene associated with Brain Malformations with or Without Urinary Tract Defects is NFIA (Nuclear Factor I A), and among its related pathways/superpathways is RNA Polymerase III Transcription Initiation. Affiliated tissues include brain and spinal cord, and related phenotypes are global developmental delay and ventriculomegaly
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
9
52
20

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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