Aromatase Deficiency (AROD)

Alias:
Congenital Estrogen Deficiency
Placental Aromatase Deficiency
46,xx Disorder of Sex Development Due to Placental Aromatase Deficiency
Pseudohermaphroditism, Female, Due to Placental Aromatase Deficiency
Pseudohermaphroditism Female Due to Placental Aromatase Deficiency
Oestrogen Synthetase Deficiency
Estrogen Synthetase Deficiency
Arod
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Aromatase Deficiency, also known as congenital estrogen deficiency, is related to lipoid congenital adrenal hyperplasia and acne. An important gene associated with Aromatase Deficiency is CYP19A1 (Cytochrome P450 Family 19 Subfamily A Member 1). Affiliated tissues include bone and breast, and related phenotypes are osteopenia and delayed skeletal maturation
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
<1/1000000
2
47
25

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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