A genetic disorder is an illness caused by abnormalities in genes or chromosomes.

While some
diseases, such as cancer, are due in part to genetic disorders, they can also be caused by
environmental factors. Most disorders are quite rare and affect one person in every several
thousands or millions. Some types of recessive gene disorders confer an advantage in the
heterozygous state in certain environments.[1]

Contents
[hide]

• 1 Single gene disorder

o 1.1 Autosomal dominant
o 1.2 Autosomal recessive
o 1.3 X-linked dominant
o 1.4 X-linked recessive
o 1.5 Y-linked
o 1.6 Mitochondrial
• 2 Multifactorial and polygenic (complex) disorders
• 3 Prognosis and treatment of genetic disorders
• 4 See also
• 5 References
Prevalence of some single gene disorders[citation needed]
• 6 External links Disorder Prevalence (approximate)
Autosomal dominant
Single gene Familial hypercholesterolemia
Polycystic kidney disease
1 in 500
1 in 1250
disorder Neurofibromatosis Type I 1 in 2,500
Hereditary spherocytosis 1 in 5,000
A single gene Marfan syndrome 1 in 4,000 [2]
disorder is the result
Huntington's disease 1 in 15,000 [3]
of a single mutated
gene. There are Autosomal recessive
estimated to be over Sickle cell anemia 1 in 625
4000 human diseases (African Americans)
caused by single gene Cystic fibrosis 1 in 2,000
defects. Single gene (Caucasians)
disorders can be 1 in 3,000
Tay-Sachs disease
passed on to (American Jews)
subsequent Phenylketonuria 1 in 12,000
generations in several Mucopolysaccharidoses 1 in 25,000
ways. Genomic Glycogen storage diseases 1 in 50,000
imprinting and Galactosemia 1 in 57,000
uniparental disomy,
X-linked
however, may affect
Duchenne muscular dystrophy 1 in 7,000
inheritance patterns.
The divisions Hemophilia 1 in 10,000
Values are for liveborn infants
between recessive
and dominant types are not "hard and fast" although the divisions between autosomal and X-
linked types are (since the latter types are distinguished purely based on the chromosomal
location of the gene). For example, achondroplasia is typically considered a dominant disorder,
but children with two genes for achondroplasia have a severe skeletal disorder that
achondroplasics could be viewed as carriers of. Sickle-cell anemia is also considered a recessive
condition, but heterozygous carriers have increased resistance to malaria in early childhood,
which could be described as a related dominant condition.[citation needed] When a couple where one
partner or both are sufferers or carriers of a single gene disorder and wish to have a child they
can do so through IVF which means they can then have PGD (pre-implantation genetic
diagnosis) to check whether the fertilised egg has had the genetic disorder passed on.[4]

Autosomal dominant

Main article: Autosomal dominant#Autosomal dominant gene

Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal
dominant disorder. Each affected person usually has one affected parent. There is a 50% chance
that a child will inherit the mutated gene. Conditions that are autosomal dominant sometimes
have reduced penetrance, which means that although only one mutated copy is needed, not all
individuals who inherit that mutation go on to develop the disease. Examples of this type of
disorder are Huntington's disease, neurofibromatosis type 1, Marfan syndrome, hereditary
nonpolyposis colorectal cancer, and hereditary multiple exostoses, which is a highly penetrant
autosomal dominant disorder. Birth defects are also called congenital anomalies.

Autosomal recessive

Main article: Autosomal dominant#Autosomal recessive allele

Two copies of the gene must be mutated for a person to be affected by an autosomal recessive
disorder. An affected person usually has unaffected parents who each carry a single copy of the
mutated gene (and are referred to as carriers). Two unaffected people who each carry one copy
of the mutated gene have a 25% chance with each pregnancy of having a child affected by the
disorder. Examples of this type of disorder are cystic fibrosis, sickle-cell disease, Tay-Sachs
disease, Niemann-Pick disease, spinal muscular atrophy, and Roberts syndrome. Certain other
phenotypes, such as wet versus dry earwax, are also determined in an autosomal recessive
fashion.[5][6]

X-linked dominant

Main article: X-linked dominant

X-linked dominant disorders are caused by mutations in genes on the X chromosome. Only a
few disorders have this inheritance pattern, with a prime example being X-linked
hypophosphatemic rickets. Males and females are both affected in these disorders, with males
typically being more severely affected than females. Some X-linked dominant conditions such as
Rett syndrome, incontinentia pigmenti type 2 and Aicardi syndrome are usually fatal in males
either in utero or shortly after birth, and are therefore predominantly seen in females. Exceptions
to this finding are extremely rare cases in which boys with Klinefelter syndrome (47,XXY) also
inherit an X-linked dominant condition and exhibit symptoms more similar to those of a female
in terms of disease severity. The chance of passing on an X-linked dominant disorder differs
between men and women. The sons of a man with an X-linked dominant disorder will all be
unaffected (since they receive their father's Y chromosome), and his daughters will all inherit the
condition. A woman with an X-linked dominant disorder has a 50% chance of having an affected
fetus with each pregnancy, although it should be noted that in cases such as incontinentia
pigmenti only female offspring are generally viable. In addition, although these conditions do not
alter fertility per se, individuals with Rett syndrome or Aicardi syndrome rarely reproduce.[citation
needed]

X-linked recessive

Main article: X-linked recessive

X-linked recessive conditions are also caused by mutations in genes on the X chromosome.
Males are more frequently affected than females, and the chance of passing on the disorder
differs between men and women. The sons of a man with an X-linked recessive disorder will not
be affected, and his daughters will carry one copy of the mutated gene. A woman who is a carrier
of an X-linked recessive disorder (XRXr) has a 50% chance of having sons who are affected and
a 50% chance of having daughters who carry one copy of the mutated gene and are therefore
carriers. X-linked recessive conditions include the serious diseases Hemophilia A, Duchenne
muscular dystrophy, and Lesch-Nyhan syndrome as well as common and less serious conditions
such as male pattern baldness and red-green color blindness. X-linked recessive conditions can
sometimes manifest in females due to skewed X-inactivation or monosomy X (Turner
syndrome).

Y-linked

Main article: Y linkage

Y-linked disorders are caused by mutations on the Y chromosome. Because males inherit a Y
chromosome from their fathers, every son of an affected father will be affected. Because females
inherit an X chromosome from their fathers, female offspring of affected fathers are never
affected.

Since the Y chromosome is relatively small and contains very few genes, there are relatively few
Y-linked disorders.[citation needed] Often the symptoms include infertility, which may be
circumvented with the help of some fertility treatments. Examples are male infertility and
hypertrichosis pinnae.[citation needed]

Mitochondrial

Main article: Mitochondrial disease

This type of inheritance, also known as maternal inheritance, applies to genes in mitochondrial
DNA. Because only egg cells contribute mitochondria to the developing embryo, only mothers
can pass on mitochondrial conditions to their children. An example of this type of disorder is
Leber's hereditary optic neuropathy.

Multifactorial and polygenic (complex) disorders

Genetic disorders may also be complex, multifactorial, or polygenic, meaning that they are likely
associated with the effects of multiple genes in combination with lifestyle and environmental
factors. Multifactorial disorders include heart disease and diabetes. Although complex disorders
often cluster in families, they do not have a clear-cut pattern of inheritance. This makes it
difficult to determine a person’s risk of inheriting or passing on these disorders. Complex
disorders are also difficult to study and treat because the specific factors that cause most of these
disorders have not yet been identified.
On a pedigree, polygenic diseases do tend to “run in families”, but the inheritance does not fit
simple patterns as with Mendelian diseases. But this does not mean that the genes cannot
eventually be located and studied. There is also a strong environmental component to many of
them (e.g., blood pressure).

• asthma
• autoimmune diseases such as multiple sclerosis
• cancers
• ciliopathies
• cleft palate
• diabetes
• heart disease
• hypertension
• inflammatory bowel disease
• mental retardation
• mood disorder
• obesity
• refractive error
• infertility

Prognosis and treatment of genetic disorders

This section requires expansion.
See also: Huntington's disease clinical research

Genetic disorders rarely have effective treatments, though gene therapy is being tested as a
possible treatment for some genetic diseases, including some forms of retinitis pigmentosa[7]

• Gauchers disease is a genetic disease affecting metabolism. It is more treatable then most
other genetic diseases, and can be treated with enzyme replacement therapy, medication
miglustat, and bone marrow transplantion.[8]

See also
• Genetic epidemiology
• Inborn errors of metabolism
• List of genetic disorders
• Medical genetics
• Population groups in biomedicine

References
1. ^ WGBH Educational Foundation
2. ^ Keane MG, Pyeritz RE (May 2008). "Medical management of Marfan
syndrome". Circulation 117 (21): 2802–13.
doi:10.1161/CIRCULATIONAHA.107.693523. PMID 18506019.
http://circ.ahajournals.org/cgi/content/full/117/21/2802.
3. ^ Walker FO (2007). "Huntington's disease". Lancet 369 (9557): 221.
doi:10.1016/S0140-6736(07)60111-1. PMID 17240289.
4. ^ Kuliev A, Verlinsky Y (2005). "Preimplantation diagnosis: A realistic option
for assisted reproduction and genetic practice". Curr. Opin. Obstet. Gynecol. 17 (2): 179–
 83. doi:10.1097/01.gco.0000162189.76349.c5. PMID 15758612.
http://meta.wkhealth.com/pt/pt-core/template-
journal/lwwgateway/media/landingpage.htm?issn=1040-
872X&volume=17&issue=2&spage=179. Retrieved 2009-04-01.
5. ^ Wade, Nicholas (January 29, 2006). "Japanese Scientists Identify Ear Wax
Gene". New York Times.
6. ^ Yoshiura K, Kinoshita A, Ishida T, et al. (March 2006). "A SNP in the
ABCC11 gene is the determinant of human earwax type". Nat. Genet. 38 (3): 324–30.
doi:10.1038/ng1733. PMID 16444273.
7. ^ Retinitis Pigmentosa: Treatment & Medication~treatment at eMedicine
8. ^ Gaucher's disease:Treatments and drugs, eMedicine WebMD, 2009-07-11,
accessed 2010-03-31.

External links
• Public Health Genomics at CDC
• OMIM — Online Mendelian Inheritance in Man, a catalog of human genes and genetic
disorders
• Genetic and Rare Diseases Information Center (GARD) Office of Rare Diseases (ORD),
National Institutes of Health (NIH)
• CDC’s National Center on Birth Defects and Developmental Disabilities
• Genetic Disease Information from the Human Genome Project

[show]v · d · eGenetic disorder, protein biosynthesis: Transcription

factor/coregulator deficiencies

[show]v · d · eGenetic disorder, membrane: Solute carrier disorders

[show]v · d · eGenetic disorder, membrane: cell surface receptor deficiencies

TSHR (CHNG1 congenital hypothyroidism) · LHCGR (Male-limited precocious puberty) ·

ClassFSHR (XX gonadal dysgenesis) · EDNRB (ABCD syndrome, Waardenburg syndrome 4B,
A Hirschsprung's disease 2) · AVPR2 (Nephrogenic diabetes insipidus 1) · PTGER2 (Aspirin-
induced asthma)

Class
PTH1R (Jansen's metaphyseal chondrodysplasia)
B

Class
CASR (Familial hypocalciuric hypercalcemia)
C
Class
FZD4 (Exudative vitreoretinopathy 1)
F

ROR2 (Robinow syndrome) · FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome) ·

FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon
syndrome, Jackson-Weiss syndrome) · FGFR3 (Achondroplasia, Hypochondroplasia,
RTK
Thanatophoric dysplasia, Muenke syndrome) · INSR (Donohue syndrome · Rabson–
Mendenhall syndrome) · NTRK1 (Congenital insensitivity to pain with anhidrosis) · KIT
(KIT Piebaldism, Gastrointestinal stromal tumor)

AMHR2 (Persistent Mullerian duct syndrome II)

TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia) ·

STPK
TGFBR1/TGFBR2 (Loeys-Dietz syndrome)

PRKAG2 (Wolff–Parkinson–White syndrome)

GC GUCY2D (Leber's congenital amaurosis 1)

[show]v · d · eGenetic disorder, membrane: Channelopathy

CACNA1A (Familial hemiplegic migraine 1, Episodic ataxia 2) · CACNA1C (Timothy

Voltage-syndrome, Brugada syndrome 3, Long QT syndrome 8) · CACNA1F (Ocular albinism
gated 2, CSNB2A) · CACNA1S (Hypokalemic periodic paralysis, Thyrotoxic periodic
paralysis 1) · CACNB2 (Brugada syndrome 4)

Ligand
RYR1 (Malignant hyperthermia, Central core disease)
gated

Erythromelalgia · Hypokalemic periodic paralysis · Hyperkalemic periodic

paralysis · Bartter syndrome 3&4 · Brugada syndrome 1&6 · Familial hemiplegic
Voltage-gatedmigraine 3 · Generalized epilepsy with febrile seizures plus · Paramyotonia
congenita · Febrile seizure 3 · Long QT syndrome 3, 10 · Paroxysmal extreme
pain disorder

Constitutively
Liddle's syndrome · Pseudohypoaldosteronism 1AR
active

Jervell and Lange-Nielsen syndrome · Romano-Ward syndrome · Brugada syndrome

Voltage-
5 · Episodic ataxia 1 · Short QT syndrome · Neuromyotonia/Isaacs syndrome · Long
gated
QT syndrome 1, 5, 6 · Familial atrial fibrillation 3

Inward- Andersen-Tawil syndrome · Bartter syndrome 2 · Thyrotoxic periodic paralysis 2 ·

rectifier Long QT syndrome 7 · KCNJ11 (TNDM3)
 [show]v · d · eGenetic disorder, organelle: Peroxisomal disorders and lysosomal
structural disorders (E80.3, 277.86)

[show]v · d · eGenetic disorder, organelle: Ciliopathy

[show]v · d · eGenetic disorder, extracellular: scleroprotein disease (excluding

laminin and keratin)

Retrieved from "http://en.wikipedia.org/wiki/Genetic_disorder"

Categories: Genetics | Genetic disorders | Medical genetics
Hidden categories: Articles needing additional references from October 2008 | All articles
needing additional references | All articles with unsourced statements | Articles with unsourced
statements from April 2010 | Articles with unsourced statements from September 2009 | Articles
to be expanded from August 2010 | All articles to be expanded

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