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A genetic disorder, or genetic disease, is a disease caused by abnormal expression of one or more genes in a person causing a clinical phenotype. Some conditions labelled a disorder may confer an advantage. There are a number of possible causes for genetic defects:

  • They may be caused by a mutation in a gene, affecting its function.
  • There are genetic disorders caused by the abnormal chromosome number, as in Down syndrome (extra chromosome 21) and Klinefelter's syndrome (a male with 2 X chromosomes).
  • Triplet expansion repeat mutations can cause Fragile X syndrome or Huntington's disease, by modification of gene expression or gain of function, respectively.
  • Defective genes are often inherited from the parents. In this case, the genetic disorder is known as a hereditary disease. This can often happen unexpectedly when two healthy carriers of a defective recessive gene reproduce, but can also happen when the defective gene is dominant.

Currently around 4,000 genetic disorders are known; new ones are constantly discovered. The vast majority of these disorders are quite rare, and affect one person in every several thousands or millions. Cystic fibrosis is the most common genetic disorder; around 5% of the population of the United States carry at least one copy of the defective gene.

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@Jillzarin pls follow @ALDLife to help raise awareness of children with rare genetic disorders, charity close to my heart x x x
MrsGreaves (Jennifer Greaves) Wed, 01 Feb 2012 21:01:55 -0000
@Jillzarin pls follow @ALDLife to help raise awareness of children with rare genetic disorders, charity close to my heart x x x
@KimKardashian pls can you follow a very special charity @ALDLife to help raise awareness of children with rare genetic disorders, thank you
MrsGreaves (Jennifer Greaves) Wed, 01 Feb 2012 20:44:00 -0000
@KimKardashian pls can you follow a very special charity @ALDLife to help raise awareness of children with rare genetic disorders, thank you
@rickygervais There are definitely thyroid disorders and genetic deficiencies that are the cause of some obesity in the world. #justsaying
NickRhymesWitMc (Nicholas McCallum) Wed, 01 Feb 2012 18:49:20 -0000
@rickygervais There are definitely thyroid disorders and genetic deficiencies that are the cause of some obesity in the world. #justsaying
Because dog breeders have created genetically isolated populations, they can shed light on human genetic disorders » http://t.co/87LAqZ2q
bluegod (Marius Comper) Wed, 01 Feb 2012 18:47:19 -0000
Because dog breeders have created genetically isolated populations, they can shed light on human genetic disorders » http://t.co/87LAqZ2q
I apologize for my broody exterior. I blame biology, and learning about genetic disorders.
your_cupid (Bret Wilson) Wed, 01 Feb 2012 15:56:13 -0000
I apologize for my broody exterior. I blame biology, and learning about genetic disorders.
The Gale Encyclopedia of Genetic Disorders: http://t.co/xaiDqKly
Ashantinqk (Luz Momplaisir) Wed, 01 Feb 2012 15:18:48 -0000
The Gale Encyclopedia of Genetic Disorders: http://t.co/xaiDqKly

 
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Gene Clinics - Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.

A3243G - Explains a gene defect which causes several diseases including Maternally Inherited Diabetes with Deafness. Features a newsletter, forum and definitions.
Meta Description: [ About 1% of Diabetes and Deafness, is 'caused' by a gene defect on the Mitochondrial DNA. This website provides a Support Group, a Forum and Information. ]

Blepharophimosis Ptosis Epicanthus Inversus Syndrome - The BPEI (BPES) Family Network encourages people to get in touch with each other, share information and ask questions. Explanation of this rare eye disorder.
Meta Description: [ BPES / BPEI Self-help group. Worldwide help and support for people who have Blepharophimosis Epicanthus Inversus Syndrome. ]

Dr. Greene's HouseCalls - A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease.

Genetic and Rare Conditions - Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
Meta Description: [ Information on genetic conditions and birth defects for professionals, educators, and individuals. Links to lay advocacy and support groups, clinics with genetic counselors and geneticists, sites for children and young adults. Maintained by Medical Genetics, University of Kansas Medical Center ]

Genetic Disorders: The Links to Diet - Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis.
Meta Description: [ Explores role of diet and nutrition in birth defects and conditions often attributed to just bad genes. ]

IMMD Institute of Medical Molecular Diagnostics Ltd. - The IMMD is a genetic testing laboratory located in Germany. Provides genetic tests for hereditary breast cancer, various cardiovascular diseases or diseases with onset in childhood.
Meta Description: [ The IMMD is a leading Genetic Testing Laboratory located in Germany. Founded in 1994, IMMD currently provides genetic tests for hereditary breast cancer, various cardiovascular diseases or diseases with onset in childhood. ]

New Scientist: Heroin Addiction Gene Identified and Blocked - Scientists have not only identified a critical gene involved in heroin addiction relapse, but they have also successfully blocked it, eliminating cravings for the drug.
Meta Description: [ The study in heroin-addicted rats led to a treatment that successfully eliminated cravings for the drug - human treatments may follow ]

Primary Ciliary Dyskinesia - Information on a rare congenital disease.
Meta Description: [ This website is from the PCD Interest Group (PCD Belangengroep). On this site you can find information on Primary Ciliary Dyskinesia in Dutch and English. ]

The Center For Jewish Genetics Disorders - A critical effort to provide public and professional education for many of the identified Jewish genetic disorders. Find info on screening and counseling, advocacy, events and community resources.

500 The UDGD Spot - Resources and information for families of children with genetic disabilities or syndromes that are still awaiting a diagnosis.
Meta Description: [ Information and support for families of infants or children with undiagnosed genetic disordes or very rare synromes. ]

Washington University in St Louis - Family resource for individuals with Papillon Lefevre, Haim-Munk Syndrome and Prepubertal Periodontis. Interested families may participate in a registry dedicated to learning about the natural history of these three conditions.
Meta Description: [ Fireworks Splice HTML ]

XLH Network - Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.
Meta Description: [ XLH Network is a patient support group for: X-Linked Hypophosphatemia (XLH), X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets. ]

Your Genes, Your Health - The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
Meta Description: [ Your Genes, Your Health, DNA Learning Center's multimedia guide to genetic, inherited disorders: Fragile X syndrome, Marfan syndrome, Hemophilia, cystic fibrosis, Duchenne muscular dystrophy Becker muscular dystrophy, phenylketonuria, PKU, huntington disease, neurofibromatosis, NF, sickle cell, ... ]

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