Hyaline Fibromatosis Syndrome (HFS)

Alias:
Puretic Syndrome
Inherited Systemic Hyalinosis
Juvenile Hyaline Fibromatosis
Hyalinosis, Systemic
Hfs
Infantile Systemic Hyalinosis
Systemic Hyalinosis
Antxr2-Related Hyaline Fibromatosis Syndrome
Murray-Puretic-Drescher Syndrome
Fibromatosis, Juvenile Hyaline
Hyalinosis, Systemic Infantile
Fibromatosis, Hyaline Syndrome
Neurofibromatosis 1
Molluscum Fibrosum
Murray Syndrome
Ish
Jhf
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hyaline Fibromatosis Syndrome, also known as puretic syndrome, is related to gingival hypertrophy and anthrax disease, and has symptoms including neuralgia An important gene associated with Hyaline Fibromatosis Syndrome is ANTXR2 (ANTXR Cell Adhesion Molecule 2). The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are macrocephaly and failure to thrive
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
13
82
44

Medical Symptom

#
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
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