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A-Z of Conditions

Below is an alphabetical list of genetic conditions. With each entry you will find links to sources of information about the condition. For some conditions we also have an information leaflet which can be downloaded.

Please note, we cannot accept any responsibility for information provided on external sites.

 

| A | B | C | D | E | F | G | H | IJ | K | L | M | N | O | PQR | S | T |U | VW | X | YZ |

A

Achondroplasia

   
Additional information:   www.achondroplasia.co.uk
    http://restrictedgrowth.co.uk/
     

Alpha-1-Antitrypsin Deficiency

   
Patient Information leaflet:    
Additional Information   http://www.alpha1.org.uk/
     

Alports Syndrome

   
 Additional information:    http://www.kidney.org.uk/help/medical-information-from-the-nkf-/kidney-diseases-index/medical-info-kidney-disease-alports-index/
 

 

     

Alstrom Disease

   
Additional Information:   www.alstrom.org.uk
     

Angelman Syndrome

   
Additional information:   www.angelmanuk.org
     

Aicardi-Goutieres Syndrome

   
Additional Information:   www.aicardi-goutieres.com
   
Genetic testing information (for professionals):   AICARDI-GOUTIÈRES SYNDROME
     
B

Bardet-Biel Syndrome

   
Additional information:   www.lmbbs.org.uk
     

Becker Muscular Dystrophy (BMD)

   
Patient Information leaflet:   Becker Muscular Dystrophy (BMD)
Additional Information   www.muscular-dystrophy.org
     

Beckwith-Wiedemann Syndrome

   
Additional information:   www.bws-support.org.uk
     

BRCA 1 and 2

   
Patient Information Leaflet:   BRCA 1 and 2 genetic testing - coming soon
    Predictive genetic testing for BRCA1- coming soon
    Predictive genetic testing for BRCA2- coming soon
Additional Information:   www.breastcancergenetics.co.uk
Genetic testing information (for professionals):   BREAST CANCER
     
C

Cancer

   
Breast Cancer Patient Information leaflets:   Average risk of breast cancer - coming soon
    Moderate risk of breast cancer - coming soon
    Predictive genetic testing for BRCA2- coming soon
Breast and Ovarian Cancer Patient Information leaflets:   Increased risk of breast and ovarian cancer - coming soon
Bowel Cancer Patient Information leaflets:   Average risk of bowel cancer
    Moderate risk of bowel cancer
    High-Moderate risk of bowel cancer
Additional Information:   www.macmillan.org.uk
    www.breakthrough.org.uk
    www.beatingbowelcancer.org
See also HNPCC and FAP    
See also BRCA1 and 2    
     

Central Core Disease

   
Additional Information:   www.muscular-dystrophy.org
Genetic testing information (for professionals):   CENTRAL CORE DISEASE
     

Chromosome Rearrangements

   
Patient Information Leaflet:   Chromosome Inversion
    Chromosome Translocations
Additional Information:   www.rarechromo.org
     

Congenital Adrenal Hyperplasia (CAH)

   
Additional Information:   http://congenitaladrenalhyperplasia.org
Genetic testing information (for professionals):   CONGENITAL ADRENAL HYPERPLASIA (DUE TO 21-HYDROXYLASE DEFICIENCY)
     

Cystic Fibrosis (CF)

   
Patient Information Leaflet:   CF carrier testing
Additional Information:   www.cftrust.org.uk
Genetic testing information (for professionals):   CYSTIC FIBROSIS
     
D

Deafness

   
Additional Information:   www.ndcs.org.uk
    www.actiononhearingloss.org.uk
Genetic testing information (for professionals):   DEAFNESS, AUTOSOMAL RECESSIVE 1
     

Down Syndrome

   
Patient Information Leaflet:   Down Syndrome- coming soon
Additional Information:   www.downs-syndrome.org.uk
     

Duchenne Muscular Dystrophy (DMD)

   
Additional Information:   www.muscular-dystrophy.org
Genetic Testing Information:    
     

Dystonia

   
Additional Information:   www.dystonia.org.uk
Genetic Testing Information (for professionals):   DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
     
E

Edward's Syndrome

   
Patient Information Leaflet:   Edward Syndrome (Trisomy 18)
Additional Information:   www.soft.org.uk
     
F

Familial Adenomatous Polyposis (FAP)

   
Patient Information Leaflet:    
Additional Information:   www.fapgene.org.uk
    www.polyposisregistry.org.uk/
Genetic testing information (for professionals):   ADENOMATOUS POLYPOSIS OF THE COLON
     

Familial Exudative Vitreoretinopathy

   
Additional Information:   www.fevr.net
Genetic testing information (for professionals):   FAMILIAL EXUDATIVE VITREORETINOPATHY
     

Familial Medullary Thyroid Carcinoma

   
Additional Information:   www.amend.org.uk
Genetic testing information (for professionals):   FAMILIAL MEDULLARY THYROID CARCINOMA
     

Fanconi Anaemia

   
Additional Information:   www.fanconi.org.uk
     

Fragile X syndrome

   
Patient Information Leaflet:   Fragile X syndrome
Additional information:   www.fragilex.org.uk
     
G

Glut1 Deficiency Syndrome

   
Additional Information:   http://glut1ds.net
Genetic testing information (for professionals):   GLUT1 DEFICIENCY SYNDROME
     
H

Haemochromatosis

   
Additional Information:   www.haemochromatosis.org.uk
     

Haemophilia

   
Additional Information:   www.haemophilia.org.uk
    www.hemophilia.ca
     

Hereditary Non Polyposis Colorectal Cancer (HNPCC, Lynch Syndrome)

   
Patient Information Leaflet:   Genetic testing for HNPCC
    Predictive testing for HNPCC
Additional Information:   www.macmillan.org.uk
Genetic testing information (for professionals):   HNPCC/LYNCH SYNDROME, PMS2
     

Huntington's Disease

   
Patient Information Leaflet:   Huntington’s Disease- coming soon
Additional Information:   www.hda.org.uk
Genetic testing information (for professionals):   HUNTINGTON DISEASE
     

Hypertrophic Cardiomyopathy

   
Patient Information Leaflet:    
Additional Information:   www.cardiomyopathy.org
    www.bhf.org.uk/heart-health/conditions/cardiomyopathy.aspx
Genetic testing information (for professionals):   HYPERTROPHIC CARDIOMYOPATH
     
I

Icthyosis

   
Additional Information:   www.ichthyosis.org.uk
Genetic testing information (for professionals):   HARLEQUIN ICTHYOSIS
   
     
 J
     
K

Klinefelter Syndrome (XXY)

   
Patient Information Leaflet:   Klinefelter Syndrome (XXY)- coming soon
Additional Information:   www.ksa-uk.net
     
L

Li Fraumeni Syndrome (p53)

   
Additional Information:   http://www.cafamily.org.uk
Genetic testing information (for professionals):   LI-FRAUMENI SYNDROME
     
M

Malignant Hypertheria

   
Additional Information:   www.bmha.co.uk
Genetic testing information (for professionals):   MALIGNANT HYPERTHERMIA
     

Marfan Syndrome

   
Additional Information:   www.marfan-association.org.uk
Genetic testing information (for professionals):   MARFAN SYNDROME
     

Meckel-Gruber Syndrome

   
Additional Information:   http://http://rarediseases.about.com/cs/meckelgrubersynd/a/020804.htm
Genetic testing information (for professionals):   MECKEL-GRUBER SYNDROME
     

Melanoma (Familial)

   
Additional Information:   www.skincancer.org
Genetic testing information (for professionals):   MELANOMA, CUTANEOUS MALIGNANT
     

Multiple Endocrine Neoplasia (MEN)

   
Additional Information:   www.amend.org.uk
Genetic testing information (for professionals):   MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
    MULTIPLE ENDOCRINE NEOPLASIA, TYPE II
     
N

Neurofibromatosis (NF) Type 1 and 2

   
Additional Information:   www.nfnetwork.org
    www.cafamily.org.uk
     
O

Oculopharyngeal Muscular Dystrophy

   
Additional Information:   www.muscular-dystrophy.org
Genetic testing information (for professionals):   OCULOPHARYNGEAL MUSCULAR DYSTROPHY
     

Optic Atrophy Type 1

   
Additional Information:    
Genetic testing information (for professionals):   OPTIC ATROPHY 1
     
P

Patau Syndrome (Trisomy 13)

   
Patient Information Leaflet:   Patau Syndrome (Trisomy 13)
Additional Information:   www.soft.org.uk
     

Pheochromocytoma

   
Additional Information:   www.pheo-para-alliance.org
Genetic testing information (for professionals):   PHEOCHROMOCYTOMA
     

Prader Willi Syndrome

   
Additional Information:   www.praderwillisyndrome.org.uk
    http://pwsa.co.uk
     

Primary Hypertrophic Osteoarthropathy

   
Additional Information:    
Genetic testing information (for professionals):   PRIMARY HYPERTROPHIC OSTEOARTHROPATHY (PHO)
     
 Q
     
 R
     
S

Sandhoff Disease

   
Additional Information:    
Genetic testing information (for professionals):   SANDHOFF DISEASE
     

Sickle Cell Anaemia

   
Additional Information:   www.sicklecellsociety.org 
     
T

Thalassaemia

   
Additional Information:   www.ukts.org
     

Turner Syndrome (45X)

   
Patient Information Leaflet:    Turner Syndrome
Additional Information:   www.tss.org.uk
     

Tuberous Sclerosis

   
Additional Information:   www.tuberous-sclerosis.org
     
 U
     
V

Von Hipple Lindau (VHL)

   
Additional Information:   www.vhlcg.com
Genetic testing information (for professionals):   VON HIPPEL-LINDAU SYNDROME
     
 W
     
X

XXX Syndrome

   
Patient Information Leaflet:    
Additional Information:   www.rarechromo.org
     

XYY Syndrome

   
Patient Information Leaflet:    XYY syndrome
Additional Information:   www.rarechromo.org
     
Y

Y Chromosome microdeletions

   
Additional Information:  
Genetic testing information (for professionals):   Y CHROMOSOME MICRODELETIONS
     
 Z
     

 

 

 

 


Page updated: 03/06/2011 | Updated by: Katherine Thomas

A-Z of Conditions Links