Pyle Disease (PYL)

Alias:
Metaphyseal Dysplasia, Pyle Type
Pyle Metaphyseal Dysplasia
Pyl
Pyle's Metaphyseal Dysplasia Syndrome
Metaphyseal Dysplasia Pyle Type
Pyle's Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pyle Disease, also known as metaphyseal dysplasia, pyle type, is related to intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies and metaphyseal dysplasia. An important gene associated with Pyle Disease is SFRP4 (Secreted Frizzled Related Protein 4). Affiliated tissues include bone and cortex, and related phenotypes are reduced bone mineral density and metaphyseal widening
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
7
9

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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