List of Genetic Diseases and Disorders

Genetic diseases and disorders are the result of anomalies in a gene or an entire part of the chromosome of an individual. They may arise due to spontaneous mutations or may be inherited from the parents. The current article provides a list of such genetic diseases and disorders.
Porphyria fact
Did You Know?
Genes have a 'memory.' The lives of your grandparents - the air they breathed, the food they ate, even the things they saw - can directly affect you, decades later, despite your never experiencing these things yourself.
~ BBC, Ghost in Your Genes

"They are in you and me; they created us, body and mind; and their preservation is the ultimate rationale for our existence. They have come a long way, those replicators. Now they go by the name of genes, and we are their survival machines."
- Richard Dawkins

DNA or deoxyribonucleic acid is the macromolecule that contains all the information required for the development and functioning of an organism. This is achieved through sets of DNA sequences called genes, which are responsible for a particular phenotype, trait or function. These units of heredity are arranged together, along with their regulatory sequences, to form chromosomes.

In addition to the DNA present in nucleus, the mitochondria of each cell also possess their own genetic component called mitochondrial DNA. These mitochondrial genes are responsible for certain vital components of the cellular processes. Genetic diseases are the result of mutations, deletions, repetitions and other anomalies in one or more genes as well as chromosomal aberrations. Given below is a list of several genetic diseases and disorders, categorized on the basis of their inheritance and genetic complexity.


Single Gene Disorders
As the name suggests, this set of genetic disorders refers to those arising due to mutations in a single gene. Based on the location and the inheritance pattern of the gene, these diseases are further classified into the following types.

Autosomal Dominant
Genetic diseases that are manifested in the presence of a single copy of a mutated/abnormal autosomal gene are called autosomal dominant diseases. In other words, abnormal gene inherited from one parent can cause a disease, even if a normal copy of the gene is inherited from the other parent.

Autosomal Dominant Inheritance

  • Alagille syndrome
  • Alexander disease
  • Apert syndrome
  • Optic atrophy type 1
  • Gardner syndrome
  • Hereditary spherocytosis
  • Legius syndrome (LS)
  • Marfan syndrome
  • Marshall syndrome
  • Huntington's disease
  • Stone man syndrome
  • Neonatal Onset multisystem inflammatory disease
  • Liddle's syndrome
  • Stickler syndrome
  • Noonan syndrome
  • Pallister-Hall syndrome
  • Peutz-Jeghers syndrome
  • Rubinstein-Taybi syndrome
  • Russell-Silver syndrome
  • Tuberous sclerosis
  • von Hippel-Lindau syndrome
  • Worth syndrome
  • Neurofibromatosis type I
  • Best's disease (Best's vitelliform macular dystrophy)

Autosomal Recessive
This set of diseases are manifested only when two copies of the mutated gene are inherited. If one gene is defective whereas the other inherited gene is normal, the individual is simply a carrier of the gene, and does not suffer from the disease.

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  • Mucolipidoses
  • Alpers' disease
  • Oculocutaneous albinism
  • Canavan syndrome
  • Cystinosis
  • Dubin-Johnson syndrome
  • Galactosemia
  • Hemoglobin C disease
  • Refsum disease
  • Sickle cell anemia
  • Alström syndrome
  • Xeroderma pigmentosum
  • Shwachman-Diamond syndrome
  • Hurler syndrome
  • Bloom syndrome
  • Congenital adrenal hyperplasia
  • Achromatopsia
  • Phenylketonuria (PKU)
  • De Barsy syndrome
  • Cystic fibrosis
  • Primary carnitine deficiency
  • Familial dysautonomia
  • Gaucher's disease
  • Laron syndrome
  • Scheie syndrome
  • Usher syndrome
  • Dubowitz syndrome
  • Pseudoxanthoma elasticum
  • Louis-Bar syndrome
  • Tay-Sachs disease
  • Homocystinuria
  • Werner syndrome (adult progeria)

X-linked Dominant
The disorders that arise due to defects or mutations in genes located on the X chromosome are termed X-linked disorders. An X-linked dominant disorder arises when a single copy of the gene leads to expression of the abnormal protein. A characteristic of X-linked disorders is that an affected father does not pass on the defect to sons, since sons inherit X-chromosome from their mothers. These are more commonly observed in females.

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  • Aicardi syndrome
  • Coffin Lowry syndrome
  • X-linked hypophosphatemia
  • (familial vitamin d-resistant rickets)
  • Rett syndrome
  • Giuffrè-Tsukahara syndrome
  • Danon disease
  • (glycogen storage disease type IIb)

X-linked Recessive
In this set of disorders, a single copy of defective gene located on the X-chromosome results in the manifestation of symptoms. They are more common in males, and families with such a condition, often have an affected male in each generation. An affected female will always pass on the condition to her sons.

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  • Color blindness
  • Ocular albinism
  • Barth syndrome (BTHS)
  • Menkes disease
  • X-linked ichthyosis (XLI)
  • Aarskog-Scott syndrome (AAS)

The diseases resulting due to defects or anomalies in genes present on the Y chromosome are termed Y-linked disorders. The Y chromosome has very genes and Y-linked genetic diseases are rarely observed. These occur only in males and the son of an affected father will always inherit the disease.

Y-linked Inheritance

The two known examples of Y-linked disorders are:
  • Y chromosome infertility
  • Swyer syndrome

This subset include diseases that are associated with several genes but result due to mutation in any of them. Their inheritance depends on the location of the particular gene affected.

  • Albinism
  • Thalassemia
  • Corneal dystrophy
  • DiGeorge syndrome
  • Waardenburg syndrome
  • Ehlers-Danlos syndrome (EDS)
  • Congenital hypertrichosis
  • Alpha-1 antitrypsin deficiency
  • Polycystic kidney disease
  • Charcot-Marie-Tooth disease (CMT)
  • Hemophilia
  • Porphyrias
  • Duane syndrome
  • Proteus syndrome
  • Fragile X syndrome
  • Spinocerebellar ataxia
  • Osteogenesis imperfecta
  • Treacher Collins syndrome
  • Myotonic hypertrophy
  • Hutchinson-Gilford progeria syndrome

"Famous Single Gene Disorders"
» Miles Davis: Sickle cell anemia
» Woodrow Wilson "Woody" Guthrie: Huntington's disease
» Fred Rogers: Color blindness
» Vincent van Gogh: Acute intermittent porphyria
» Bob Flanagan: Cystic fibrosis
» Hemophilia: Members of the European royal family

Chromosomal Disorders
The disorders that arise due to the absence of a particular chromosome, presence of an additional chromosome or due to structural anomalies (deletions, duplication or translocation) in a chromosome are termed chromosomal disorders. Such anomalies occur randomly during the formation of an egg or sperm in the gonads, and most of them are not inheritable. However, certain structurally defective chromosomes may be inherited leading to passing of the disease from one generation to the next. The human karyotype depicting the complete set of 46 chromosomes has been given below.

Normal Human Karyotype

  • Patau syndrome
  • (trisomy 13)
  • Down's syndrome
  • (trisomy 21)
  • Edwards syndrome
  • (trisomy 18)
  • Williams syndrome (WS)
  • (deletion 7q.11.23)
  • Smith-Magenis syndrome
  • (17p syndrome)
  • Jacobsen syndrome
  • (11q deletion disorder)
  • Wolf-Hirschhorn syndrome
  • (deletion 4p.16.3)
  • XYY syndrome
  • (Extra Y chromosome)
  • Turner syndrome
  • (monosomy X)
  • Klinefelter syndrome
  • (XXY trisomy)
  • Triple X syndrome
  • (XXX Syndrome)
  • Cri du chat syndrome
  • (5p deletion syndrome)
  • Potocki-Shaffer syndrome
  • (11p deletion syndrome)
  • Pallister-Killian syndrome
  • (tetrasomy 12p mosaicism)

"Famous Chromosomal Disorders"
» Christopher Joseph "Chris" Burke: Down's syndrome

Polygenic and Multifactorial Disorders
Genetic diseases that arise due to defects in more than one gene as well as non-genetic factors are termed polygenic or multifactorial genetic diseases. The non-genetic factors include environment, lifestyle, diet, habits, etc. These diseases often run in families but do not follow a definite pattern of inheritance. The susceptibility to these diseases with respect to the different factors has been illustrated below.

Multifactorial Diseases

  • Autism
  • Diabetes mellitus
  • Cancers
  • Hypothyroidism
  • Alzheimer's disease
  • Schizophrenia
  • Cerebral palsy
  • Angelman syndrome
  • Bardet-Biedl syndrome
  • Prader-Willi syndrome
  • Bipolar disorder
  • Cleft lip and palate
  • Hirschsprung's disease
  • Macular degeneration
  • Neural tube defects (NFD)
  • Skeletal dysplasias
  • Androgen insensitivity syndrome
  • Osteoporosis
  • Cardiovascular conditions
  • Iron-deficiency anemia
  • Addison's disease
  • Parkinson's disease
  • Asperger's syndrome
  • Muscular dystrophy
  • Lou Gehrig's disease
  • Spina bifida
  • Epidermolysis bullosa
  • Fibromuscular dysplasia
  • Guillain-Barré syndrome
  • Hemochromatosis
  • Pierre Robin syndrome
  • Microphthalmia
  • Pheochromocytoma
  • Congenital/acquired hip dysplasia

"Famous Multifactorial Disorders"
» John F. Kennedy: Addison's disease
» Thomas Edison: Asperger's syndrome
» Adolf Hitler: Parkinson's disease
» Lou Gehrig: Amyotrophic lateral sclerosis (Lou Gehrig's disease)

Mitochondrial DNA-associated Disorders
Diseases that are characterized by alterations in mitochondrial function due to defects in nuclear or mitochondrial DNA (mtDNA) are collectively called mitochondrial diseases. The inheritance of these disease is often complex and depends on several factors. However, the set of diseases that arise due to mutations in mtDNA are often inherited maternally. The examples of these diseases have listed below.

Mitochondrial Inheritance

  • Pearson syndrome
  • Kearns-Sayre syndrome (KSS)
  • Leber hereditary optic neuropathy (LHON)
  • Myoclonic epilepsy and ragged-red fibers (MERRF)
  • Maternally-inherited diabetes and deafness (MIDD)
  • Neuropathy, ataxia, and retinitis pigmentosa (NARP)
  • Chronic progressive external ophthalmoplegia (CPEO)
  • Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)

Unfortunately, the list of genetic diseases is an unending one, and new additions occur frequently, thereby presenting a new challenge to researchers and the medical community. However, the following words by Richard Dawkins seem to provide a great inspiration in understanding these diseases, and finding a way to counterbalance their errors.

"Let us understand what our own selfish genes are up to, because we may then at least have a chance to upset their designs, something that no other species has ever aspired to do."
Last Updated: May 17, 2013
Post a Comment
wow kieran is cool - kakarot [July 15, 2014]
i hope chuck norris hits you - kakarot [July 15, 2014]
:( :( :( :( :( i hope you step on lego - kieran [July 15, 2014]
Wow - kieran [July 15, 2014]
omg ! - cely [May 19, 2014]
i think i might have the opposite. my neck is so fat it looks like i am a blueberry - Gaben [March 31, 2014]
this information tell a lots of things that you only learned in your life - ifrath nasar [January 7, 2014]
I am looking for a diagnosis of a disease that is hereditary and sounds like air-low-stan? - Jennifer [October 17, 2013]
How about CMT? - DAN [September 15, 2013]
Can DiGeorge Syndrome be passed from mother to unborn babe? - oriana [April 13, 2013]
Why isn't doctors doing more reseach on trisomy 18 and why are the numbers of deaths and diagnosis of trisomy 18 not being reported in lasted reports. I want to know everything there is to know about T18 ,because I lost a daughter to t18 in january of 2012. - Barbara [March 6, 2013]
hey that all you got I said list all - joe [February 20, 2013]
thank you you helped a lot - adri [February 7, 2013]
This is some great information, Thanks - Ian's mom. [January 29, 2013]
why arn't there any pics of genetic diseases - chloe [January 16, 2013]
im blessed that i dont have thiS diseases ! .. thank GOD ! - rosell [August 27, 2012]
Its cool provide us vast knowldge - Ruchi [July 28, 2012]
what abt sma 3 neurogenetic disorder can u ever imagine what is it - arjun singh [June 6, 2012]
sir i have blue dark colour around my right eye and also very small area of left side eye ( same like some body punch on my eye ) what is the cause please healp me to solve this problem - asif ali [May 16, 2012]
wattttvfd me got the dum brain - monkey brain [May 15, 2012]
Thanks alot,these has actually helped but does it have any remeda or cure especially those that are inborn,hereditary(follow come)disorders. - Vivian peter [May 8, 2012]
now, someone hit me so let me go get all angry and ignore my girlfiend, mikayla - jorge [March 26, 2012]
this helped me alot with my problems! - mikayla [March 26, 2012]
My sister has Genetic Disorder - Abigail [March 1, 2012]
Canadianism is a serious genetic disorder and it causes mental blocks. - Hannah Hensley [February 14, 2012]
This is a helpful website - jessica [February 2, 2012]
This is a good source for a project thanks for helping - Telisia [January 18, 2012]
very helpful for students - tarushi [October 2, 2011]
Does anyone have any information on Tay-Sachs? - Billi [August 18, 2011]
what is the gentic disdoder - hope [May 23, 2011]
you don't have the PKU (phenylketonuria) as geneitc disease. I would like to see some information about it, next time when I check this web. - Marcello [April 27, 2011]
thanks this really helped me with human and social biology - ginelle [March 31, 2011]
You have mistake on muscular destrophy (an editing mistake, incomplete sentence) lol. - HIIIIIIIIIIIIII [March 30, 2011]
i think that i have many of these conditions and it really greatly bothers the heck out of me that you have these displayed on the internet. - madeline dumm [March 24, 2011]
Totally awesome - has all the information I need ! - MERCY MOHAN PAN [March 1, 2011]
my science class has to do a project and we have to take a genetic disease and right all this stuff about it like a powerpoint toondoo and all this other stuff! and my whole class thinks it stupid and i do too cuz we have 2 moreother projects due on the same week and plus some of us have softball too! and its alot of work.. - lauren brown [February 21, 2011]
I wonder why you don't have hemachromatosis listed. It is more common than Down syndrome and Hemophilia, yet I rarely see it listed in genetic disorders. - Janet [February 11, 2011]
I Think this Is A Wonderful Site to inform people about genectic diseases ! - Michelle [February 10, 2011]
thefeef - beef [February 7, 2011]
wow werewolf syndrome looks terrible :o - non u buisness [January 21, 2011]
REALLY GOOD! - GABBY SOTO [January 21, 2011]
i dont understand, these arent all genetically inherited, are they? i am looking for yr9 science genetic diseases. - Elsie. Rawr.(: [January 12, 2011]
Thanks, helped out with science class :) Really sad to think about these though :( - Jet [January 10, 2011]
hHey whats up thanks for posting this it really helped on a project! - jessie [January 4, 2011]
would have liked more informattion on each disorder - patrick [January 4, 2011]
not so many information. ok - diana [December 30, 2010]
This is a very important article; however, it needs index. - Nyei, F. [December 19, 2010]
IDK i wouder if it is? - Kayla [December 3, 2010]
im srry for u louise :( - Kayla [December 3, 2010]
i dont like color blindness very well...i fell srry for the people who have it... - Kayla [December 3, 2010]
ok emily i feel sorry for your little brother.nice story.i almost cryed when i read it. - anna [December 3, 2010]
wow,it must stink to have cystic doing research for a project. - anna [December 3, 2010]
I have Cystic Fibrosis. - Louise [November 23, 2010]
i hate learning about genetic disorders! lol it grosses me out! lol - Renee [November 8, 2010]
this is a very advanced site but needs way more genetic disorders to stay on the web - kierra [October 13, 2010]
disorder im looking for is not listed and i cannot find the name of it anywhere - cody ledford [October 11, 2010]
yes it is ture - adam [October 11, 2010]
dillan-neve-savage faceys chentelle bendlow - chany [October 11, 2010]
i lopve doing ya ma every night adam telford - adam telford [October 11, 2010]
is there a doctor on the web i can talk to without paying on line a free dr. totalk to orbetter symptoms for dieases to look at - nancy [September 29, 2010]
i realy like this wedsite - brandon william [August 31, 2010]
i want to do miniproject on genetic disorder ,can u suggest me that which disorder wll be best - rahul kumar [August 9, 2010]
this is a very helpful site, it was very informative and i found everything i needed for research...thank you - Sarah M [June 7, 2010]
Down syndrome is genetic but is NOT "hereditary" as explained on your website. It does not run in families and is completely random. - Don Adamson [June 6, 2010]
i feel really bad for the people that have something like this and hope they find cures for these - jacob [June 1, 2010]
great website - stephanie [May 19, 2010]
interesting websitee - tiffany [May 19, 2010]
it was okay...i guess - tiffany [May 19, 2010]
This was really helpful it made it easy to find a syndrome for science - Carli C [May 17, 2010]
theses are some really good diseases! - cc [May 10, 2010]
want more information - x [April 22, 2010]
this lesson very intrested thank you. - RUT Y. [April 10, 2010]
There is a typo. "Unfortunately the list does not finishes here and researchers in the domain of medicine must work a lot in order to discover remedies for them." It should be "finish," not "finishes." - Karen S [March 28, 2010]
You forgot Sickle Cell Anemia
other than that good job!
*thumbs up*
- Bell [March 10, 2010]
all of this is very usfull..but u should jua add more disorders..and list the chromosomes - noonenos [February 28, 2010]
i think dat dis is amazing learning about all these different disorders - harmony k [February 20, 2010]
is diabetes type 1 a genetic disease - alexis [February 18, 2010]
all this really helped me on my report. thanks :) - wendi casados [February 8, 2010]
I think these genetic disorders could only be a few... I'm still wondering if there are any more genetic disorders... But these are interesting... For my science project, I'm going to go with the color blindness... - Lauren [February 5, 2010]
maybe include some more symptoms for some of them - Michelle [February 2, 2010]
I think this is a great website it really helped me with my project:) - Heidi [January 30, 2010]
Genetic disorders stem from family upbrinnging, DNA code or both? - Shannon [January 14, 2010]
I think god should have not made us w/ disorders - Patra B. [January 11, 2010]
well i found out that i have the Cri du Chat disease so i am very happy with this site - marie terry [January 11, 2010]
- MIZZ JJ [January 4, 2010]
how common is this disease - kylea crawford [December 15, 2009]
i did not know there were so many genetic disorder disease - Thalia [December 11, 2009]
i think nothing - kayla [November 30, 2009]
And to all those idiotic people who find it funny to just write ridiculous and inappropriate comments, you are all immature morons who are completely ignorant to the feelings of those of us who have experienced these things and if I was anyone else I would hope you all fall down a well and die of starvation! But of course I'm me and I'm not that nasty so just don't do it!

And those people who say that there should be more diseases here, it would probably take an entire lifetime to write every single one down and every time you'd think you were finished, you'd realise that there are another hundred of them that were discovered while you were writing down the others. This is why it says at the bottom that the list doesn't end there. : )
- Emily [November 26, 2009]
Hey this article was a real help.

I'm 14yrs old and I've been trying to write an essay on genetic diseases and genetic testing. The only examples I could find that fitted my criteria were Marfan Syndrome, Kabuki Syndrome and Tay-Sachs Disease. This site has really opened my eyes to other topics and suggestions.

My younger brother suffers from a genetic disease (Kabuki) and is confined to a wheelchair so I always appreciate it when someone puts the effort into making a website like this that gets people to realise the amount of people out there who suffer, either directly or indirectly, from a chronic illness such as these.
: ) Thank You : )
- Emily [November 26, 2009]
this wasn't very helpful - yo mama [November 19, 2009]
Would Appreciate More information on Quife A Lot syndrome. - Drew Peacock [November 19, 2009]
Very Good website. Round Of Applause. - moshi morimotai [November 19, 2009]
how do you when you have down syndrome because i mit have it can you give me more info. - trevin [November 17, 2009]
VERY NICE! - Borat [November 15, 2009]
All these disease and syndrome that are happaning but mostly on little kids are very sad and hurtful but i hope you scientist find a cure to these bad disease. - kyrajones [November 13, 2009]
thank you, this was really helpful for my science project - Viktoriya [November 10, 2009]
more diseases... - Anonymous [November 4, 2009]
needs more info on down syndrome - anonymous [November 2, 2009]
This is a great website. Even for teens like me who need it to do science reports. I'm 13 and I understood it better than the science book! Thanks for all of that great info. My report was supposed to be two pages but it turned out to be about 4 thanks to your website and some others. - Jodi W [October 27, 2009]
this is a helpful website - tee tee [October 12, 2009]
it mainly depends on the genes compositions and also protiens synthesis process - radha [September 30, 2009]
Add Hyperthyroidism to your list - Me [August 27, 2009]
"list does not finishes here" doesnt make sense. thanks :-) - dd [June 26, 2009]
I kill SMALL ASIAN CHILDREN! - asian woman [May 28, 2009]
eat me! - vagina man [May 28, 2009]
I think this website was very helpful :) - Aliyah [May 21, 2009]
this is simply amazing - ZOMGHAXXOR [May 7, 2009]
where is hemochromatosis? name all the diseases! - camille [May 5, 2009]
i like to eat cheesee! YUMMMMMMMMMMMMMMMMMMMM - Bob. [April 27, 2009]
there are many genetic disorders, i want to no if any can be cured? - melony [April 27, 2009]
this was a very helpful site it tells about the disorder and who what when and symptoms - 2020714 [April 20, 2009]
I think th at this story is well organized and it also shows me how many genetic disorders there are so i think its really infomative!

Thanks So much for writting this
- SCOOT HOOPER [April 16, 2009]
I think th at this story is well organized and it also shows me how many genetic disorders there are so i think its really infomative!

Thanks So much for writting this
- Karen Clark [April 16, 2009]
Thanks for the list. This will really help me on my project! - Tara Hill [April 13, 2009]
is sickle cellanaemia ever fatal - tobywalker./com [April 2, 2009]
can hiv be inherited - toby walker [April 2, 2009]
more disorders - toby walker [April 2, 2009]
i think that this site gives good information - warrensville [March 23, 2009]
needs more genetic disorders on here - amber [March 4, 2009]
It wasn't much help.
I'm trying to find something specific.
- Valerie [February 17, 2009]
i feel so bad 4 everyone with these disorders! - emilee [February 10, 2009]
Awesome info! - Bob [February 9, 2009]
um there are more such as sickle-cell disease, but I'm thankful for this list because my teacher wanted me to write an essay about something i hadn't learned. - Darcy [January 11, 2009]
curtis, may i interest you in a class on edicasy ?
poo is something that comes out of your bottom i dont think we here at buzzle need to know about what your thinking about ... pls keep your childish comments to yourself.
thank you,
jan ambers
- jan ambers [January 7, 2009]
To be honeset, I really dont think that those are all of the diseases. It would be really nice if you listed them all. - Anonomous [January 6, 2009]
i love it - jillian [December 17, 2008]
I HEART WHISPEEREIN EYES! - ME [December 17, 2008]
i love those! - Dr.Nipples [December 17, 2008]
its very sad - jessica [December 11, 2008]
is there any cure for these diseases because were learning it in science - natalie [November 30, 2008]
I am a 7th grade student and i have a essay on a genetic disease and i got exactly what i wanted off this website. Thank you 'buzzle'. - Zak [November 6, 2008]
this site is wonderful, thanks for helping me out. - josh jacobs [October 22, 2008]
wolfe someting to do wit the heart - Brenda [October 2, 2008]
Great - this got me an A+ on my disorder caused by genetics! =P thanks ! - Thomas [May 26, 2008]
dis dnt show nothin - no of yo bezwax [February 29, 2008]
I Wish You Could Get MORE on this List It would be VERY helpful Thanx - Devin.R [February 28, 2008]
i think the easter bunny is real - adam [February 26, 2008]
that elvis is alive - mandie [February 26, 2008]
i think it should explain more about the diseaes. - portia [February 14, 2008]
why i dont find out what happen in gentic dises
- trinh [January 18, 2008]
check your spelling. - Jenny [January 14, 2008]
what are docters donig to cure this disoder - sherial [January 14, 2008]
dose this disorder be detected befor its symptoms appear - sherial [January 14, 2008]
it is unreal I dont thik thsi thing it real becaues it is a fake - wang lee [January 13, 2008]
Surely I'd like to read more about Duchenne Muscular Dystrophy. Alejandro, aged 16, a south-american and argentine boy, my youngest son is a DMD patient. We live in ARGENTINA, South America - Cesar [May 13, 2007]
Is alzheimers a genetic disorder? - paige [May 9, 2007]