Acromegaly

Description

Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Clinical Features

Top most frequent phenotypes and symptoms related to Acromegaly

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition
  • Kyphosis
  • Depressivity
  • Hyperhidrosis
  • Diabetes mellitus
  • Mandibular prognathia

And another 54 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 Acromegaly have a estimated incidence of 0.35 per 100k in Europe.
No data available about the known clinical features onset.

Researches and researchers

Doctors, researchs, and experts related to Acromegaly extracted from public data.

Acromegaly Experts map



Current Researchs and researchers

  • WIEN — Klinische Abteilung für Endokrinologie und Stoffwechsel



    • Institution/s:
      — Universitätsklinik für Innere Medizin III, Allgemeines Krankenhaus der Stadt Wien
    • Research area/topic::

      SOPRANo: Non-interventional, Observational Study to Evaluate Common Therapeutic Algorithms and Possible Predictive Parameters for Somatuline Autogel® (ATG) Treatment in Subjects With Either Acromegaly or Neuroendocrine Tumours (NET) - AT


  • WIEN — Pr Markus RADERER

    Clinical expert - Principal investigator of clinical trial - Investigator of research project - Manager of registry

    • Institution/s:
      — Universitätsklinik für Innere Medizin I, Allgemeines Krankenhaus der Stadt Wien
    • Research area/topic::

      SOPRANo: Non-interventional, Observational Study to Evaluate Common Therapeutic Algorithms and Possible Predictive Parameters for Somatuline Autogel® (ATG) Treatment in Subjects With Either Acromegaly or Neuroendocrine Tumours (NET) - AT


  • FIRENZE — Pr Maria Luisa BRANDI

    Coordinator of expert centre - Manager of registry - Coordinator of research network

    • Institution/s:
      — Azienda Ospedaliero Universitaria Careggi - NEUROFARBA
      — Dipartimento di Ortopedia - Centro Traumatologico Ortopedico, Azienda Ospedaliero Universitaria Careggi
    • Research area/topic::

      Multiple Endocrine Neoplasia Network


  • BARCELONA — Pr Susan WEBB YOUDALE

    Clinical expert - Principal investigator of clinical trial - Investigator of research project - Manager of registry

    • Institution/s:
      — Hospital de la Santa Creu i Sant Pau
    • Research area/topic::

      ACROSTUDY: A Multicenter, Post Marketing Surveillance Study of Somavert® Therapy in Patients with Acromegaly


  • BARCELONA — Dr Elena VALASSI

    Investigator of research project

    • Institution/s:
      — Hospital de la Santa Creu i Sant Pau
    • Research area/topic::

      Role of Myosteatosis in the Occurrence and Persistence of Residual Muscle Weakness in Patients With Acromegaly and Cushing's Syndrome. Study of the Mechanisms Involved



Mendelian

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Acromegaly Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Acromegaly, predisposition to, due to germline GPR101 mutation.

By Centogene AG - the Rare Disease Company (Germany).

GPR101
Specificity
100 %
Genes
50 %
GPR101.

By Fulgent Genetics Fulgent Genetics (United States).

GPR101
Specificity
100 %
Genes
50 %
AIP Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

AIP
Specificity
100 %
Genes
50 %
AIP Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

AIP
Specificity
100 %
Genes
50 %
BrainTumorNext.

By Ambry Genetics (United States).

SMARCA4, SMARCB1, SMARCE1, TP53, TSC1, TSC2, VHL, SUFU, DICER1, POT1, CDKN1B, CDKN2A, AIP, ALK, APC, MEN1, MLH1, MSH2, MSH6, NBN , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
CustomNext: Cancer.

By Ambry Genetics (United States).

BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, SUFU, DICER1 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
50 %
Familial isolated pituitary adenoma (sequence analysis of AIP gene).

By CGC Genetics (Portugal).

AIP
Specificity
100 %
Genes
50 %
Familial isolated pituitary adenoma (deletion/duplication analysis of AIP gene).

By CGC Genetics (Portugal).

AIP
Specificity
100 %
Genes
50 %

We have 32 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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