Talk:List of genetic disorders/Archive 1

22q11.2 DS
This disorder should be listed in the Common Disorders box, as it is the second most common genetic syndrome after Down. The incidence is though to be somewhere between 1:2000 and 1:4000.


 * You convinced me, I inserted it. Thanks. NCurse work 05:41, 30 September 2006 (UTC)

The list looks nice but I think it'd be better if we list them in categories as shown here;

I. Autosomal (a). Dominant (b). Recessive II.Sex-linked (a). Dominant (b). Recessive

Such a list would be more interesting form an academic point of view especially for we physicians. Joram Beda 08:37, 1 October 2006 (UTC)


 * Good idea. This list should stay and we should create a new in your system. NCurse work 21:05, 30 September 2006 (UTC)

Dear administrator Read Harrison's Principles of Internal Medicine, 15th Edition. Your list contains genetic diseases that are almost theory because their occurances are so rare, one might have to live a century to see one hopefully.Joram Beda 08:44, 1 October 2006 (UTC)


 * I'm not an administrator. And it's not my list. :) I know that a lot of them are very rare, others will be just redirects. Please help how to fix this list. Which part should we remove? Redirects? Alternate names? NCurse work 08:51, 1 October 2006 (UTC)

I have a better list but i am having difficulty in uploading the file to wiki.Joram Beda 12:49, 1 October 2006 (UTC)


 * Why? What is the extension? Maybe I can help. NCurse work 13:39, 1 October 2006 (UTC)


 * There are 7000 genetic diseases - lists already exist at Office of Rare Diseases, Genetic Alliance, NORD, Genetic Home Reference run by the National Library of Medicine, and of course OMIM. Maybe you should import one of those, the NLM ones are also connected to all of the genes, proteins and mutation databases.  Also - many of the conditions you list as common are rare, and some of them are more well known, but not classically common.  Rare in the realm of genetic disease is defined as less than 200,000 people in the  US affected.Sfterry 16:35, 9 December 2006 (UTC)

section from dominance relationship
I am pasting a section here that I cut from dominance relationship in case it can be incorporated here. Dr d12 20:44, 2 December 2006 (UTC)dr_d12

Some genetic diseases inherited as autosomal dominant traits

 * Achondroplasia (or Chondrodystrophy)(most common form of dwarfism without mental retardation)
 * Centronuclear myopathy (but other forms are autosomal recessive or X-linked).
 * Familial hypercholesterolemia
 * Holt-Oram syndrome
 * Nail-Patella syndrome
 * Huntington's disease
 * Hypertrophic cardiomyopathy
 * Marfan syndrome
 * Neurofibromatosis
 * Osteogenesis Imperfecta (type I,II and IV, type III is progressivly deforming and is usually inherited as Autosomal recessive the penetrance is variable on this type)
 * Polycystic kidney disease(Autosomal dominant (adult) type)
 * Spherocytosis
 * Von Hippel-Lindau disease
 * Familial hemiplegic migraine
 * Ehlers-Danlos Syndrome (some but not all subtypes)
 * Gardner's syndrome
 * Familial adenomatous polyposis
 * Gilbert's syndrome
 * Tuberous sclerosis
 * Myotonic dystrophy
 * Noonan's syndrome
 * Hereditary retinoblastoma
 * Charcot-Marie-Tooth disease
 * Von Willebrand's disease (types 1 and 2)
 * Malignant hyperthermia
 * Reticulate Acropigmentation of Kitamura (RAK or RAPK)

Celiac disease
Celiac is now recognized as the most common genetic disorder (this is a change.) Ignorance of this is extremely costly, as most physicians have seen hundreds of cases but never diagnosed a single one!

Inheritance is complex, but there is nothing unique about that. Environmental factors affect it's expression, but there's nothing unique about that either.

Celiac wasn't listed anywhere here (Marach 2007) so I've added it.

Some sources:

CD is one of the most common inherited diseases http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=16091925

NIH Consensus Development Conference on Celiac Disease

National Institutes of Health Consensus Development Conference Statement June 28–30, 2004

Celiac disease has been considered until recently to be a rare disease in the United States. Studies, primarily in Europe but also in the United States, now suggest that its prevalence is much greater than previous estimates, possibly affecting as many as 3 million Americans (roughly 1 percent of the U.S. population), indicating that the disease is widely underrecognized. http://consensus.nih.gov/2004/2004CeliacDisease118html.htm

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15624347

only 35% of primary care physicians had ever diagnosed celiac disease. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=16050861

“Celiac disease not limited to young” from the column Your Good Health by Dr. Paul Donahue Not so long ago, celiac was believed to be a rare bird. Today it is diagnosed with 100 times the frequency it was diagnosed 50 years ago.

http://www.sun-herald.com/NewsArchive2/092305/hn1.htm?date=092305&story=hn1.htm Ndaniels 19:46, 10 March 2007 (UTC)

HD-like conditions
Note for future addition of Huntington's Disease-like conditions referenced in LeeVJ (talk) 16:25, 1 May 2008 (UTC)

Circadian rhythm disorders
I know little about the topic, but it seems to me that at least Familial advanced sleep phase syndrome (FASPS) should be included here and possible some of the other Circadian rhythm sleep disorders. Thanks. --Hordaland (talk) 20:32, 20 August 2008 (UTC)

synonyms and parent articles
Have just removed wikilinks on entries that are synonyms /covered by article - i.e. any with 'see so-an-so'. This means hopefully that each variant is linked once as the main entry in the list and any synonyms only have a 'see also' link. It was a first step in removing redundancy - I was contemplating only having the chromosone and mutation info for each main entry rather than for every synonym ..in order to reduce efforts to keep them accurate, which is a tricky task - how do we check them all! LeeVJ (talk) 19:06, 4 December 2008 (UTC)

Anticipation (genetics)
Should we dedicate a section to this function of genetics? I'd like your opinions.