Aromatase Deficiency

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Aromatase Deficiency

CYP19A1

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Clinical Features

Top most frequent phenotypes and symptoms related to Aromatase Deficiency

Growth delay
Pain
Cryptorchidism
Obesity
Delayed skeletal maturation
Osteoporosis
Hypogonadism
Diabetes mellitus
Osteopenia
Genu valgum

And another 30 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Aromatase Deficiency Is also known as pseudohermaphroditism, female, due to placental aromatase deficiency, congenital estrogen deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Aromatase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Abnormal/Ambiguous Genitalia Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...) View the complete list with 52 more genes Panel complete gene list ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, ARX, GRIP1, FRAS1, SCARF2, B3GLCT, CHD7, BCOR, ICK, RSPO1, WDR60, FEZF1, FAT4, CREBBP, TCTN3, FREM2, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, DYNC2H1, DNMT3B, NSMF, AKR1C2, GATA4, KISS1R, HCCS, RIPK4, HOXA13, HSD17B3, HSD3B2, IRF6, ANOS1, AR, LHCGR, LMNA, MAP3K1, MKKS, MKS1, NEK1, NR0B1, NR5A1, OPHN1, ATRX, POR, PTPN11 Specificity 2 % Genes 100 %
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). WNT4, WT1, PSMC3IP, B3GLCT, RSPO1, CYP11B1, CYP19A1, HCCS Specificity 13 % Genes 100 %
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). WNT4, WT1, PSMC3IP, B3GLCT, RSPO1, CYP11B1, CYP19A1, HCCS, NR5A1 Specificity 12 % Genes 100 %
CYP19A1 Gene Sequencing. By GeneDx (United States). CYP19A1 Specificity 100 % Genes 100 %
CYP19A1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). CYP19A1 Specificity 100 % Genes 100 %
Aromatase deficiency (sequence analysis of CYP19A1). By CGC Genetics (Portugal). CYP19A1 Specificity 100 % Genes 100 %
Female Infertility Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). BMP15, SEMA3A, SEMA3E, FOXL2, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, TAC3, TACR3, WNT4, WT1, WWOX, ZP1, ARL6 , (...) View the complete list with 84 more genes Panel complete gene list BMP15, SEMA3A, SEMA3E, FOXL2, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, TAC3, TACR3, WNT4, WT1, WWOX, ZP1, ARL6, WDR11, CBX2, SPRY4, PROKR2, MCM8, TRIM32, IL17RD, PSMC3IP, ARX, PROK2, BBS7, TTC8, HFM1, PADI6, CHD7, CLPP, MCM9, RSPO1, LHX4, NOBOX, FEZF1, FIGLA, MAMLD1, CYP11A1, CYP17A1, CYP19A1, BBS10, BBS12, CCDC141, SOHLH1, DHH, SYCE1, DMRT1, DMRT2, NSMF, NUP107, BBS9, DUSP6, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, AIRE, FGF17, FGF8, FGFR1, FGFR2, FLRT3, AKR1C4, FSHB, FSHR, GALT, GNRH1, GNRHR, KISS1R, HESX1, HFE, HS6ST1, HSD17B3, ANOS1, KISS1, AR, LEP, LEPR, LHB, LHCGR, LHX3, LMNA, MAP3K1, MKKS, NR0B1, NR3C1, NR5A1, PCSK1, ATRX, AXL, POR, PRLR, PROP1, BBS1, BBS2, BBS4, BBS5 Specificity 1 % Genes 100 %
Male Infertility Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SEMA3A, SEMA3E, FOXL2, BRDT, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAR, AURKC, TAC3, TACR3, TAF4B, TEX11, WNT4, WT1, WWOX , (...) View the complete list with 87 more genes Panel complete gene list SEMA3A, SEMA3E, FOXL2, BRDT, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAR, AURKC, TAC3, TACR3, TAF4B, TEX11, WNT4, WT1, WWOX, ARL6, WDR11, SLC26A8, CBX2, SPRY4, PROKR2, SUN5, TRIM32, CATSPER1, IL17RD, ARX, SYCP3, PROK2, BBS7, KLHL10, CFTR, PLCZ1, TTC8, CHD7, ZMYND15, RSPO1, GALNTL5, LHX4, FEZF1, NANOS1, CFAP44, MAMLD1, CYP11A1, CYP17A1, CYP19A1, BBS10, SEPT12, BBS12, CFAP43, CCDC141, DHH, SYCE1, DMRT1, DMRT2, DNAH1, NSMF, SPATA16, BBS9, DUSP6, AIRE, FGF17, FGF8, FGFR1, FGFR2, FLRT3, AKR1C4, FSHB, GATA4, GNRH1, GNRHR, KISS1R, ADGRG2, AMH, AMHR2, HESX1, HFE, HS6ST1, HSD17B3, INSL3, ANOS1, KISS1, AR, LEP, LEPR, LHB, LHCGR, LHX3, MAP3K1, MKKS, NPAS2, NR0B1, NR5A1, PCSK1, ATRX, AXL, POR, PICK1, PROP1, BBS1, BBS2, BBS4, BBS5 Specificity 1 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Genetic Syndrome Finder

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