Nuchal Bleb, Familial (FCH)

Alias:
Fetal Cystic Hygroma
Cystic Hygroma, Fetal
Lymphangioma, Cystic
Fch
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nuchal Bleb, Familial, also known as fetal cystic hygroma, is related to cystic lymphangioma and ventricular septal defect. An important gene associated with Nuchal Bleb, Familial is CFTR (CF Transmembrane Conductance Regulator), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and IL-1 Family Signaling Pathways. Affiliated tissues include uterus, and related phenotypes are hydrops fetalis and cystic hygroma

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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3
34
6

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

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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
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IF
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