Adrenal Hyperplasia, Congenital, Due To 17-alpha-hydroxylase Deficiency

Table of contents:

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

Genes related to Adrenal Hyperplasia, Congenital, Due To 17-alpha-hydroxylase Deficiency

CYP17A1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Adrenal Hyperplasia, Congenital, Due To 17-alpha-hydroxylase Deficiency

Muscle weakness
Cryptorchidism
Hypertension
Myopathy
Headache
Abnormality of metabolism/homeostasis
Hypospadias
Micropenis
Feeding difficulties in infancy
Generalized muscle weakness

And another 21 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY have a estimated incidence of 13.35 per 100k worldwide.
— No data available about the known clinical features onset.

Alternative names

Adrenal Hyperplasia, Congenital, Due To 17-alpha-hydroxylase Deficiency Is also known as adrenal hyperplasia v, 17-alpha-hydroxylase deficiency.

Researches and researchers

Doctors, researchs, and experts related to Adrenal Hyperplasia, Congenital, Due To 17-alpha-hydroxylase Deficiency extracted from public data.

Adrenal Hyperplasia, Congenital, Due To 17-alpha-hydroxylase Deficiency Experts map

Current Researchs and researchers

NICOSIA — Dr Vassos NEOCLEOUS
Responsible for diagnostic tests - Investigator of research project - Quality manager
- Institution/s:
  — The Cyprus Institute of Neurology and Genetics
- Research area/topic::
  Epidemiology of congenital adrenal hyperplasias

LE KREMLIN-BICÊTRE — Pr Pierre BOUGNERES
Clinical expert - Investigator of research project
- Institution/s:
  — CHU Paris-Sud - Hôpital de Bicêtre
- Research area/topic::
  Gene therapy for the most severe cases of congenital adrenal hyperplasia

NICE — Dr Andreas SCHEDL
Investigator of research project
- Institution/s:
  — INSERM U 636 - Centre de biochimie, Université de Nice Sophia-Antipolis - Faculté des sciences
- Research area/topic::
  Adrenal stem cells: identification, generation and culture for genetic modification

PARIS — Pr Michel ROUSSEY
Coordinator of research network
- Institution/s:
  — AFDPHE
- Research area/topic::
  AFDPHE - Association Française pour le Dépistage et la Prévention des Handicaps de l'Enfant

VILLEJUIF — Dr Agnes DUMAS
Investigator of research project
- Institution/s:
  — CLCC Institut Gustave Roussy
- Research area/topic::
  Transition Platforms: Understanding the Expectations of Parents of Young People with Rare Diseases

STOCKHOLM — Pr Agneta NORDENSKJÖLD
Clinical expert - Investigator of research project
- Institution/s:
  — Karolinska Institutet - Solna
  — Karolinska Universitetssjukhuset - Solna
- Research area/topic::
  Molecular and clinical studies of bladder exstrophy and congenital adrenal hyperplasia

BRISTOL — Pr Stafford LIGHTMAN
Principal investigator of clinical trial - Investigator of research project
- Institution/s:
  — Bristol Medical School: Translational Health Sciences, University of Bristol
- Research area/topic::
  Pulsed Glucocorticoid Replacement Therapy

LONDON — Dr Lih-Mei LIAO
Clinical expert - Coordinator of research network
- Institution/s:
  — University College Hospital - Elizabeth Garrett Anderson Wing
  — UCL Institute for Women's Health
- Research area/topic::
  EuroPSI - European Network for Psychosocial Studies in Intersex / Diverse Sex Development

SHEFFIELD — Pr Richard JM ROSS
Investigator of research project
- Institution/s:
  — Room EU14, Floor E, The Medical School, The Medical School - University of Sheffield
- Research area/topic::
  CaHASE: Cross-Sectional Multi-Centre Study of UK Adults With Congenital Adrenal Hyperplasia

NEW YORK — Dr Maria I NEW
Manager of registry - Coordinator of research network
- Institution/s:
  — The Mount Sinai School of Medicine
- Research area/topic::
  RGSDC: Rare Genetic Steroid Disorders Consortium

Adrenal Hyperplasia, Congenital, Due To 17-alpha-hydroxylase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis. By Baylor Miraca Genetics Laboratories (United States). RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...) View the complete list with 612 more genes Panel complete gene list RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB, SDHC, SEMA4A, SGSH, SHH, SIX6, FOXL2, SLC16A1, SLC22A4, SLC22A5, SLC24A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BRCA1, SLC34A1, SLC35A1, SLC3A1, SLC9A3R1, SLC9A6, SMPD1, SNCB, SOD1, SOD2, SOX2, BTD, SPG7, SPR, SPTLC2, SQSTM1, STAR, STAT1, STAT3, STXBP1, SUCLA2, SUCLG1, SUOX, SURF1, TAT, TAZ, TWNK, HNF1A, HNF1B, ZEB1, TCIRG1, TCN2, TEAD1, TGFB1, TGFBI, ACO2, TIMM8A, TIMP3, TK2, TLR3, TLR4, ACOX1, TNFRSF11A, TNFRSF11B, TNFSF11, TP53, TSFM, TUFM, TULP1, TYR, TYROBP, TYRP1, UBE3A, UCP1, UCP2, UCP3, UNG, UQCRB, USH1C, USH2A, CLRN1, VCP, VHL, BEST1, VSX1, WFS1, WT1, WWOX, XDH, ARL6, LPIN1, RPGRIP1, CA2, CDH23, CA4, SOST, GFM1, CABP4, CACNA1F, MRPS16, ELAC2, SLC25A20, C1QTNF5, HTRA2, SLC25A19, ELOVL4, MRPS22, CDHR1, PINK1, AMN, ABCA12, FYCO1, PCDH15, CASP8, CAT, PRPF31, ANKH, CBS, PUS1, HPS3, KLHL7, ALG9, LRPPRC, HPS4, PRPF6, ABHD12, PANK2, NDUFAF5, RP1L1, APTX, COX4I2, NFU1, USH1G, WHRN, PARK7, TRIM32, LIAS, SLC45A2, KIF1B, MCEE, COQ8A, MFN2, HAX1, HPS5, OPTN, NDUFA13, RIMS1, RRM2B, SP7, DTNBP1, PRPF8, AASS, ADGRV1, SARS2, PDSS1, NT5C3A, INVS, NAGS, MFRP, FKBP10, ALG1, IMPG2, ATP6V0A2, COG7, COG8, RAX, BBS7, ATPAF2, HPS6, NDUFAF1, MMAA, NPHP4, CHAT, MTO1, P3H1, MMAB, KIF21A, ALG12, CHM, RD3, KCNV2, SLC25A22, RDH12, CYCS, TTC8, GLRX5, GPR143, SLC35C1, CACNA2D4, COQ6, CLCN7, NUBPL, NDUFA11, SPATA7, L2HGDH, DHDDS, TPP1, CLN3, TUBA1A, TUBB3, SLC39A13, BCOR, BLOC1S3, AARS2, NDUFAF4, PITPNM3, ABHD5, RARS2, INPP5E, CNGA1, ACAD9, CNGA3, CNGB1, DIABLO, CNGB3, EYS, ADAM9, TSPAN12, OSTM1, TOPORS, CERKL, AGK, COL1A2, COL3A1, COL5A1, COL5A2, FAM20C, COX15, COX6B1, ABAT, LMBRD1, PDSS2, ALG3, ALG6, ALG2, ALG8, CYP4V2, CPOX, CPT1A, ETHE1, CPT2, CRB1, GNE, CRTAP, CRX, CRYAB, NDUFA12, CISD2, GLYCTK, YARS2, BOLA3, DMGDH, MMACHC, FLVCR1, MMADHC, COQ2, CCDC39, CTSD, COQ9, CTSK, TMEM126A, CUBN, TRMU, MTPAP, DARS2, CYB5A, CYBA, REEP1, FAM161A, SRD5A3, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP1B1, TTC19, CYP24A1, SDHAF2, TMEM127, CYP27A1, TMEM70, SLC25A38, CYP27B1, PDZD7, BBS10, ZNF513, HGSNAT, BBS12, C12orf65, AMER1, FOXRED1, DBT, C8orf37, DDOST, ACSF3, MSRB3, XPNPEP3, NDUFAF2, CCDC28B, COX14, D2HGDH, TMEM67, DGUOK, NDUFAF6, DHODH, CYB5R3, LEMD3, IQCB1, DLAT, DLD, CEP290, ADSL, FASTKD2, ANKRD26, CC2D2A, UQCRQ, GNPTAB, DNM1L, ISCU, NDUFAF3, BBS9, PPARGC1B, DPM1, DPM3, RFT1, TUSC3, RILP, DSP, DNAJC19, STRA6, PNPLA2, SNRNP200, SECISBP2, TYMP, AFG3L2, LCA5, AGL, EFEMP1, PRCD, AGPS, ELN, ENO3, SDHAF1, ABCA4, AGXT, PCARE, ETFA, ETFB, ETFDH, EYA1, EYA4, ACSL4, FAH, AIPL1, FBLN5, FBN1, FBP1, AK1, AK2, FECH, AKAP10, FH, ATP8B1, FOXC1, FXN, FSCN2, ALAS2, ALDH3A2, FZD4, G6PC, ALDH4A1, SLC37A4, GAA, ALDH5A1, GAD1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, GARS, ALDOB, GATM, GBE1, GCDH, GCK, GCKR, ABCB11, OPN1MW, GCSH, GFER, CBLIF, GJA3, ALMS1, GK, GLB1, TAP1, GLDC, GLUD1, GM2A, GNAT1, GNAT2, GNS, GOT1, GPD1, GPD2, GPI, ABCB4, AMACR, GPX1, GRM6, GRN, GSN, GUCA1A, GUCA1B, GUCY2D, GUSB, ABCB6, GYS1, GYS2, AMT, ABCB7, HSD17B10, HADHA, HADHB, HAGH, HARS, HBB, HCCS, HESX1, HEXA, HEXB, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HP, HPRT1, HPS1, HSD17B4, HSD3B2, HSPD1, IDH2, IDH3B, AP3B1, IMPDH1, ABCD1, IVD, JAG1, APP, KARS, KCNJ13, KRT12, KRT3, KRT5, LDHA, LDHB, COG1, ARG1, LMX1B, LRAT, LRP5, MAN2B1, MANBA, MAOA, PHOX2A, MC1R, MCCC1, MCCC2, ME2, MECP2, MEF2A, MEN1, MERTK, MGAT2, MKKS, MKS1, TRPM1, MLYCD, ALDH6A1, MOCS1, MOCS2, MPDU1, MPI, MPV17, SEPT9, MTHFR, ASL, MTR, MTRR, MMUT, MUTYH, ASS1, MYO7A, MYOC, NAGLU, NCOA4, NDP, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEFH, NEUROD1, ZFHX3, NHS, NME1, NPHP1, NPHP3, ATIC, NRL, FRMD7, NYX, OAT, OCA2, OCRL, OGDH, OGG1, OPA1, OPA3, ATP5F1E, ACACA, OTC, OTX2, OXCT1, PAH, PRKN, PAX2, PAX6, PC, PCCA, PCCB, ATP7A, ACAD8, ATP7B, PCK2, AIFM1, ALDH7A1, PDE6A, PDE6B, PDE6C, PDE6G, PDHA1, PDHB, SLC26A4, SERPINF1, PFKM, PGAM2, ACADM, AUH, PGM1, PHB, PHKA1, PHKA2, PHKB, PHKG2, PHYH, ACADS, PITX2, PITX3, PLA2G2A, PLOD2, PLOD3, ACADSB, PMM2, PNKD, POLG, POLG2, ACADVL, PPARG, B4GALT1, CTSA, PPIB, PDP1, PPOX, ACAT1, B4GALT7, PPP2R1B, ACAT2, PRKCG, PRODH, PROM1, PSAP, PSEN1, BBS1, BBS2, CAVIN1, PTS, BBS4, BBS5, PYCR1, ALDH18A1, PYGL, PYGM, QDPR, RAF1, BCKDHA, BCKDHB, RB1, OPN1LW, RDH5, PRPH2, RET, RGR Specificity 1 % Genes 100 %
CYP17A1 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories (United States). CYP17A1 Specificity 100 % Genes 100 %
CYP17A1 Familial Mutation/Variant Analysis. By Baylor Miraca Genetics Laboratories (United States). CYP17A1 Specificity 100 % Genes 100 %
CYP17A1 Prenatal Sequence Analysis. By Baylor Miraca Genetics Laboratories (United States). CYP17A1 Specificity 100 % Genes 100 %
CYP17A1 Sequence Analysis. By Baylor Miraca Genetics Laboratories (United States). CYP17A1 Specificity 100 % Genes 100 %
CYP17A1 Sequence and Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories (United States). CYP17A1 Specificity 100 % Genes 100 %
CYP17A1 DNA Sequencing Test. By Athena Diagnostics Inc (United States). CYP17A1 Specificity 100 % Genes 100 %
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 %

You can get up to 39 more panels with our dedicated tool

Sources and references

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OMIM ORPHANET Rare Disease Symptoms Checker

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