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

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



Mendelian

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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 , (...)

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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
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Genes
100 %
CYP17A1 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

CYP17A1
Specificity
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Genes
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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 , (...)

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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