Details of Disease

General Information of Disease (ID: DISMDRRM)

Disease Name Aromatase deficiency
Synonyms pseudohermaphroditism, female, due to placental aromatase deficiency; congenital oestrogen deficiency; aromatase deficiency; congenital estrogen deficiency
Definition
Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.
Disease Hierarchy
DIS4V9SY: Inherited primary ovarian failure
DIS5V7J6: Pregnancy disorder
DISMDRRM: Aromatase deficiency
Disease Identifiers
MONDO ID
MONDO_0013301
MESH ID
C537436
UMLS CUI
C1960539
OMIM ID
613546
MedGen ID
743307
Orphanet ID
91
SNOMED CT ID
427627006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CYP19A1 TTSZLWK Limited Biomarker [1]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYP19A1 DEQX145 Definitive Autosomal recessive [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SHOX OTE0YZJO Disputed Biomarker [3]
CYP19A1 OTZ6XF74 Definitive Autosomal recessive [2]
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References

1 Higher Insulin Resistance and Adiposity in Postmenopausal Women With Breast Cancer Treated With Aromatase Inhibitors.J Clin Endocrinol Metab. 2019 Sep 1;104(9):3670-3678. doi: 10.1210/jc.2018-02339.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3 Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature.J Clin Endocrinol Metab. 2000 Aug;85(8):2927-30. doi: 10.1210/jcem.85.8.6745.