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

  • Hypertension
  • Frontal bossing
  • Kyphosis
  • Abnormality of the dentition
  • Fatigue
  • Depressivity
  • Diabetes mellitus
  • Mandibular prognathia
  • Coarse facial features
  • Macrotia
And another 48 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.


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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 in Germany.

GPR101
Specificity
100 %
Genes
50 %
GPR101.

By Fulgent Genetics Fulgent Genetics in 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 in 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 in United States.

AIP
Specificity
100 %
Genes
50 %
BrainTumorNext.

By Ambry Genetics in United States.

VHL, APC, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, MEN1, TSC2, TSC1, ALK, NBN, PTCH1, PHOX2B, NF2, SUFU, CDKN2A, PRKAR1A, NF1 , (...)

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

By Ambry Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
50 %
Familial isolated pituitary adenoma (sequence analysis of AIP gene).

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

AIP
Specificity
100 %
Genes
50 %
OncoRisk Plus (NGS panel for 89 genes).

By CGC Genetics in Portugal.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
50 %
AIP-Related Familial Isolated Pituitary Adenomas.

By Exeter Molecular Genetics Laboratory in United Kingdom.

AIP
Specificity
100 %
Genes
50 %
Familial Isolated Pituitary Adenoma via AIP Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AIP
Specificity
100 %
Genes
50 %
Hereditary Cancer Syndromes - panels.

By MGZ Medical Genetics Center in Germany.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
50 %
AIP.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

AIP
Specificity
100 %
Genes
50 %
Pituitary adenoma, growth hormone-secreting.

By Centogene AG - the Rare Disease Company in Germany.

AIP
Specificity
100 %
Genes
50 %
AIP-Related Familial Isolated Pituitary Adenomas.

By GGA - Galil Genetic Analysis in Israel.

AIP
Specificity
100 %
Genes
50 %
Cancer Predisposition.

By Asper Biogene Asper Biogene LLC in Estonia.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
50 %
Pituitary adenomas, familial: AIP gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

AIP
Specificity
100 %
Genes
50 %
Pituitary adenoma, familial: AIP gene deletions-duplications analysis (MLPA).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

AIP
Specificity
100 %
Genes
50 %
ONCOLOGY, PANEL.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, RB1, SDHAF2, RET, KIF1B, SDHC, FH, SDHB, TMEM127 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
50 %
Hereditary Cancer Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
50 %
Endocrine Cancer: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL, PTEN, TP53, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHD, PRKAR1A, CDC73, CDKN1B, AIP, MXD1
Specificity
7 %
Genes
50 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
50 %
AIP.

By Fulgent Genetics Fulgent Genetics in United States.

AIP
Specificity
100 %
Genes
50 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
50 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...)

View the complete list with 126 more genes
Specificity
1 %
Genes
50 %
Hereditary Endocrine Cancer Panel.

By Blueprint Genetics in Finland.

VHL, APC, PTEN, TP53, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, SDHD, MET, MAX, PRKAR1A, CDC73, NF1, CDKN1B, AIP , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
FAMILIAL PITUITARY ADENOMA.

By Laboratorio de Genetica Clinica SL in Spain.

AIP
Specificity
100 %
Genes
50 %
ACROMEGALY.

By Laboratorio de Genetica Clinica SL in Spain.

AIP
Specificity
100 %
Genes
50 %
ACTH- secreting Pituitary Adenoma , Sequencing AIP Gene.

By Reference Laboratory Genetics in Spain.

AIP
Specificity
100 %
Genes
50 %
Prolactin-secreting Pituitary Adenoma , Sequencing AIP Gene.

By Reference Laboratory Genetics in Spain.

AIP
Specificity
100 %
Genes
50 %
Growth Hormone-secreting Pituitary Adenoma , Sequencing AIP Gene.

By Reference Laboratory Genetics in Spain.

AIP
Specificity
100 %
Genes
50 %
Pituitary Adenoma , Deletions-Duplications (MLPA) AIP Gene.

By Reference Laboratory Genetics in Spain.

AIP
Specificity
100 %
Genes
50 %
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes.

By Reference Laboratory Genetics in Spain.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
50 %
Phosphorus Brain and Nervous System Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, RB1, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHA, HRAS, TSC2, TSC1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Phosphorus Pan-Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
50 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
50 %
Endocrine Cancer: gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, PTEN, TP53, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHD, MAX, PRKAR1A, CDC73, CDKN1B, AIP
Specificity
7 %
Genes
50 %
Hereditary Cancer Syndrome: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
50 %


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