Fanconi anemia causes

Revision as of 17:39, 20 June 2018 by Sunny Kumar (talk | contribs)
Jump to navigation Jump to search

Fanconi anemia Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Fanconi anemia from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Fanconi anemia causes On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Fanconi anemia causes

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Fanconi anemia causes

CDC on Fanconi anemia causes

Fanconi anemia causes in the news

Blogs on Fanconi anemia causes

Directions to Hospitals Treating Fanconi anemia

Risk calculators and risk factors for Fanconi anemia causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Fanconi anemia an autosomal recessive genetic disorder..

Causes

There are at least 13 genes of which mutations are known to cause FA.

Common Genes

 FANCA

FANCB,

FANCC

FANCD1 (BRCA2)

FANCD2,

FANCE,

FANCF

FANCG

Less common

FANCI

FANCJ (BRIP1)

FANCL

FANCM

FANCN (PALB2)

FANCP (SLX4)

FANCS (BRCA1)

RAD51C

XPF.

Mechanism

For an autosomal recessive disorder, both parents must be carriers in order for a child to inherit the condition. If both parents are carriers, there is a 25% risk with each pregnancy for the mother to have an affected child. Approximately 1,000 persons worldwide presently suffer from the disease. The carrier frequency in the Ashkenazi Jewish population is about 1/90. Genetic counseling and genetic testing is recommended for families that may be carriers of Fanconi anemia.File:Autorecessive.svg

References