Fanconi Anemia, Complementation Group O; Fanco

Description

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Clinical Features

Top most frequent phenotypes and symptoms related to Fanconi Anemia, Complementation Group O; Fanco

  • Short stature
  • Neoplasm
  • Cryptorchidism
  • Anemia
  • Renal insufficiency
  • Abnormality of cardiovascular system morphology
  • Abnormal heart morphology
  • Hydronephrosis
  • Anal atresia
  • Stage 5 chronic kidney disease

And another 10 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Fanconi Anemia, Complementation Group O; Fanco Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Comprehensive breast and ovarian cancer panel testing (18 genes).

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, BRIP1, PALB2, MLH1, MSH2, MSH6, MUTYH, ATM, PMS2, PTEN, RAD51C, RAD51D
Specificity
6 %
Genes
100 %
Fanconi Anemia Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BRCA2, BRIP1, FANCL, FANCM, SLX4, FANCI, PALB2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, RAD51C
Specificity
7 %
Genes
100 %
Inherited Cancer Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BLM, SDHB, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, BRIP1, SDHAF2, TMEM127 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Bone Marrow Failure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPL11, RPL35A, RPL5, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27A, RPS7, BRCA2, SRP72, TERT, THPO, TINF2, XRCC2, RPL36, NHP2, NOP10, SBDS , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
VistaSeq Hereditary Cancer Panel.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, CDK4, CDKN2A, BRIP1, ABRAXAS1, PALB2, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, NBN, ATM , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Vistaseq Hereditary Cancer Panel Without BRCA.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

BMPR1A, STK11, EPCAM, TP53, CDH1, CDK4, CDKN2A, BRIP1, ABRAXAS1, PALB2, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, NBN, ATM, PMS2, PRKAR1A , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
VisaSeq Breast and GYN Cancer Panel.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, BRIP1, ABRAXAS1, PALB2, FANCC, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, ATM, PMS2, BARD1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %

We have 145 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PREMATURE OVARIAN FAILURE 11; POF11 MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10 TOOTH AGENESIS, SELECTIVE, 1; STHAG1 PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1 HUNTINGTON DISEASE-LIKE 2; HDL2 BALLER-GEROLD SYNDROME; BGS CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1; CPSQ1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more