CYP19A1 gene related symptoms and diseases
All the information presented here about the CYP19A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CYP19A1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Acne | Very Common - Between 80% and 100% cases |
| Neoplasm | Common - Between 50% and 80% cases |
| Obesity | Common - Between 50% and 80% cases |
| Diabetes mellitus | Common - Between 50% and 80% cases |
| Enlarged polycystic ovaries | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with CYP19A1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Infertility
- Hirsutism
- Amenorrhea
- Type II diabetes mellitus
- Insulin resistance
- Menstrual irregularities
- Hypogonadism
Not very common - Between 30% and 50% cases
- Epidermal acanthosis
And 58 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CYP19A1 gene
Here you will find a list of rare diseases related to the CYP19A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
POLYCYSTIC OVARY SYNDROME 1; PCOS1
Alternate names
POLYCYSTIC OVARY SYNDROME 1; PCOS1 Is also known as pco, pco1, hyperandrogenemia, stein-leventhal syndrome, pcos
Description
a health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance
Most common symptoms of POLYCYSTIC OVARY SYNDROME 1; PCOS1
- Neoplasm
- Abnormality of metabolism/homeostasis
- Obesity
- Diabetes mellitus
- Apnea
More info about POLYCYSTIC OVARY SYNDROME 1; PCOS1
AROMATASE EXCESS SYNDROME
Alternate names
AROMATASE EXCESS SYNDROME Is also known as aexs, familial hyperestrogenism, hereditary prepubertal gynecomastia, aromatase activity, increased
Description
Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.
Most common symptoms of AROMATASE EXCESS SYNDROME
- Short stature
- Neoplasm
- Hypogonadism
- Falls
- Gynecomastia
More info about AROMATASE EXCESS SYNDROME
AROMATASE DEFICIENCY
Alternate names
AROMATASE DEFICIENCY Is also known as pseudohermaphroditism, female, due to placental aromatase deficiency, congenital estrogen deficiency
Description
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.
Most common symptoms of AROMATASE DEFICIENCY
- Growth delay
- Pain
- Cryptorchidism
- Obesity
- Delayed skeletal maturation
More info about AROMATASE DEFICIENCY
Search interest in CYP19A1
Potential gene panels for CYP19A1 gene
Abnormal/Ambiguous Genitalia Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41
More info about this panel United States.
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago 46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel that also includes the following genes: WNT4 WT1 PSMC3IP B3GLCT RSPO1 CYP11B1 CYP19A1 HCCS
More info about this panel United States.
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago 46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel that also includes the following genes: WNT4 WT1 PSMC3IP B3GLCT RSPO1 CYP11B1 CYP19A1 HCCS NR5A1
More info about this panel United States.
CYP19A1 Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the CYP19A1 gene.
More info about this panel United States.
CYP19A1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CYP19A1 gene.
More info about this panel Spain.
Aromatase deficiency (sequence analysis of CYP19A1) Panel
Portugal.
By CGC Genetics
This panel specifically test the CYP19A1 gene.
More info about this panel Portugal.
Female Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel United States.
Male Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel United States.
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel United States.
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panel United States.
Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection that also includes the following genes: BMP15 FOXL2 STAG3 MCM8 PSMC3IP HFM1 CLPP MCM9 NOBOX FIGLA
More info about this panel United States.
Ambiguous Genitalia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2
More info about this panel United States.
Aromatase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CYP19A1 gene.
More info about this panel Germany.
Single gene testing CYP19A1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the CYP19A1 gene.
More info about this panel Germany.
qGenEx Sex development disorders Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qGenEx Sex development disorders that also includes the following genes: ROR2 SOX3 SOX9 SRD5A2 SRY STAR CEP41 TSPYL1 WNT4 WT1
More info about this panel Spain.
Aromatase deficiency: CYP19A1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CYP19A1 gene.
More info about this panel Spain.
Endocrine Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Sequencing Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24
More info about this panel United States.
Endocrine Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Deletion/Duplication Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24
More info about this panel United States.
CYP19A1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CYP19A1 gene.
More info about this panel United States.
Premature Ovarian Failure Panel Panel
Finland.
By Blueprint Genetics Premature Ovarian Failure Panel that also includes the following genes: BMP15 FOXL2 STAR WT1 NOBOX CYP17A1 CYP19A1 FSHR GALT GNAS
More info about this panel Finland.
Abnormal Genitalia/ Disorders of Sex Development Panel Panel
Finland.
By Blueprint Genetics Abnormal Genitalia/ Disorders of Sex Development Panel that also includes the following genes: SOX9 SRD5A2 SRY STAR TACR3 CEP41 WT1 PROKR2 ZFPM2 FIG4
More info about this panel Finland.
Aromatase deficiency Panel
Spain.
By Bioarray
This panel specifically test the CYP19A1 gene.
More info about this panel Spain.
AROMATASE DEFICIENCY Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the CYP19A1 gene.
More info about this panel Spain.
Aromatase Deficiency, Sequencing CYP19A1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CYP19A1 gene.
More info about this panel Spain.
Premature Ovarian Failure (POF) and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes Panel
Spain.
By Reference Laboratory Genetics Premature Ovarian Failure (POF) and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: BMP15 FOXL2 STAR WNT4 POF1B PSMC3IP NOBOX FIGLA CYP17A1 CYP19A1
More info about this panel Spain.
Phosphorus Female Infertility Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Female Infertility Panel that also includes the following genes: BMP15 FOXL2 STAG3 ZP1 CAPN10 THADA NOBOX CYP11A1 CYP17A1 CYP19A1
More info about this panel United States.
Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis that also includes the following genes: BMP15 FOXL2 POF1B PSMC3IP HFM1 NOBOX FIGLA CYP17A1 CYP19A1 DIAPH2
More info about this panel Canada.
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