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A genetic disorder is a genetic problem caused by one or more abnormalities in the genome, especially a condition that is present from birth (congenital). Most genetic disorders are quite rare and affect one person in every several thousands or millions. Genetic disorders may be hereditary, passed down from the parents' genes. In other genetic disorders, defects may be caused by new mutations or changes to the DNA. In such cases, the defect will only be passed down if it occurs in the germ line. The same disease, such as some forms of cancer, may be caused by an inherited genetic condition in some people, by new mutations in other people, and mainly by environmental causes in other people. Whether, when and to what extent a person with the genetic defect or abnormality will actually suffer from the disease is almost always affected by the environmental factors and events in the person's development. Some types of recessive gene disorders confer an advantage in certain environments when only one copy of the gene is present. [1]

Contents

1 Single-gene

1.1 Autosomal dominant 1.2 Autosomal recessive 1.3 X-linked dominant 1.4 X-linked recessive 1.5 Y-linked 1.6 Mitochondrial

2 Multiple genes 3 Diagnosis 4 Prognosis 5 Treatment 6 See also 7 References 8 External links

Single-gene[edit]

Prevalence of some single-gene disorders[citation needed]

Disorder prevalence (approximate)

Autosomal dominant

Familial hypercholesterolemia 1 in 500

Polycystic kidney disease 1 in 1250

Neurofibromatosis type I 1 in 2,500

Hereditary
Hereditary
spherocytosis 1 in 5,000

Marfan syndrome 1 in 4,000[2]

Huntington's disease 1 in 15,000[3]

Autosomal recessive

Sickle cell anaemia 1 in 625

Cystic fibrosis 1 in 2,000

Tay-Sachs disease 1 in 3,000

Phenylketonuria 1 in 12,000

Mucopolysaccharidoses 1 in 25,000

Lysosomal acid lipase deficiency 1 in 40,000

Glycogen storage diseases 1 in 50,000

Galactosemia 1 in 57,000

X-linked

Duchenne muscular dystrophy 1 in 7,000

Hemophilia 1 in 10,000

Values are for liveborn infants

A single-gene disorder is the result of a single mutated gene. Over 4000 human diseases are caused by single-gene defects.[4] Single-gene disorders can be passed on to subsequent generations in several ways. Genomic imprinting
Genomic imprinting
and uniparental disomy, however, may affect inheritance patterns. The divisions 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 of which achondroplasics could be viewed as carriers. Sickle-cell anemia
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.[5] When a couple where one partner or both are sufferers or carriers of a single-gene disorder wish to have a child, they can do so through in vitro fertilization, which means they can then have a preimplantation genetic diagnosis to check whether the embryo has the genetic disorder.[6] Autosomal dominant[edit] 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.[7] The chance a child will inherit the mutated gene is 50%. Autosomal dominant conditions sometimes have reduced penetrance, which means 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,[8] neurofibromatosis type 1, neurofibromatosis type 2, Marfan syndrome, hereditary nonpolyposis colorectal cancer, hereditary multiple exostoses (a highly penetrant autosomal dominant disorder), Tuberous sclerosis, Von Willebrand disease, and acute intermittent porphyria. Birth defects are also called congenital anomalies. Autosomal recessive[edit] 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% risk with each pregnancy of having a child affected by the disorder. Examples of this type of disorder are Albinism, Medium-chain acyl-CoA dehydrogenase deficiency, 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.[9][10]

X-linked dominant[edit] Main article: X-linked dominant 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
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
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
X-linked dominant
disorder has a 50% chance of having an affected fetus with each pregnancy, although 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
Rett syndrome
or Aicardi syndrome rarely reproduce.[citation needed] X-linked recessive[edit] Main article: X-linked recessive inheritance 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[edit] Main article: Y linkage Y-linked disorders are caused by mutations on the Y chromosome. These conditions may only be transmitted from the heterogametic sex (e.g. male humans) to offspring of the same sex. More simply, this means that Y-linked disorders in humans can only be passed from men to their sons; females can never be affected because they do not possess Y-allosomes. Y-linked disorders are exceedingly rare but the most well-known examples typically cause infertility. Reproduction in such conditions is only possible through the circumvention of infertility by medical intervention. Mitochondrial[edit] Main article: Mitochondrial disease This type of inheritance, also known as maternal inheritance, applies to genes encoded by mitochondrial DNA. Because only egg cells contribute mitochondria to the developing embryo, only mothers can pass on mitochondrial DNA
DNA
conditions to their children. An example of this type of disorder is Leber's hereditary optic neuropathy. It is important to stress that the vast majority of mitochondrial disease (particularly when symptoms develop in early life) is actually caused by an underlying nuclear gene defect, and most often follows autosomal recessive inheritance.[citation needed] Multiple genes[edit] Genetic disorders may also be complex, multifactorial, or polygenic, meaning they are likely associated with the effects of multiple genes in combination with lifestyles 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. Studies which aim to identify the cause of complex disorders can use several methodological approaches to determine genotype-phenotype associations. One method, the genotype-first approach, starts by identifying genetic variants within patients and then determining the associated clinical manifestations. This is opposed to the more traditional phenotype-first approach, and may identify causal factors that have previously been obscured by clinical heterogeneity, penetrance, and expressivity. 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 intellectual disability mood disorder obesity refractive error infertility

Diagnosis[edit] See also: Prenatal diagnosis Due to the wide range of genetic disorders that are presently known, diagnosis of a genetic disorder is widely varied and dependent of the disorder. Most genetic disorders are diagnosed at birth or during early childhood however some, such as Huntington's disease, can escape detection until the patient is well into adulthood. The basic aspects of a genetic disorder rests on the inheritance of genetic material. With an in depth family history, it is possible to anticipate possible disorders in children which direct medical professionals to specific tests depending on the disorder and allow parents the chance to prepare for potential lifestyle changes, anticipate the possibility of stillbirth, or contemplate termination.[11] Prenatal diagnosis can detect the presence of characteristic abnormalities in fetal development through ultrasound, or detect the presence of characteristic substances via invasive procedures which involve inserting probes or needles into the uterus such as in amniocentesis.[12] Prognosis[edit] Not all genetic disorders directly result in death; however, there are no known cures for genetic disorders. Many genetic disorders affect stages of development, such as Down syndrome, while others result in purely physical symptoms such as muscular dystrophy. Other disorders, such as Huntington's disease, show no signs until adulthood. During the active time of a genetic disorder, patients mostly rely on maintaining or slowing the degradation of quality of life and maintain patient autonomy. This includes physical therapy, pain management, and may include a selection of alternative medicine programs. Treatment[edit]

From personal genomics to gene therapy

See also: Gene therapy The treatment of genetic disorders is an ongoing battle with over 1800 gene therapy clinical trials having been completed, are ongoing, or have been approved worldwide.[13] Despite this, most treatment options revolve around treating the symptoms of the disorders in an attempt to improve patient quality of life. Gene therapy
Gene therapy
refers to a form of treatment where a healthy gene is introduced to a patient. This should alleviate the defect caused by a faulty gene or slow the progression of disease. A major obstacle has been the delivery of genes to the appropriate cell, tissue, and organ affected by the disorder. How does one introduce a gene into the potentially trillions of cells which carry the defective copy? This question has been the roadblock between understanding the genetic disorder and correcting the genetic disorder.[14] See also[edit]

FINDbase (the Frequency of Inherited Disorders database) Genetic epidemiology Inborn errors of metabolism List of genetic disorders Population groups in biomedicine Mendelian
Mendelian
error

References[edit]

^ Mitton, Jeffery, B (2002). "Heterozygous Advantage". eLS. doi:10.10.38/npg.els.0001760.  access-date= requires url= (help) ^ Keane MG; Pyeritz RE (May 2008). "Medical management of Marfan syndrome". Circulation. 117 (21): 2802–13. doi:10.1161/CIRCULATIONAHA.107.693523. PMID 18506019.  ^ Walker FO (2007). "Huntington's disease". Lancet. 369 (9557): 218–28 [221]. doi:10.1016/S0140-6736(07)60111-1. PMID 17240289.  ^ "Genetic link to 4,000 diseases". Archived from the original on 2014-12-23.  ^ Williams T. N.; Obaro S. K. (2011). "Sickle cell disease and malaria morbidity: a tale with two tails". Trends in Parasitology. 27 (7): 315–320. doi:10.1016/j.pt.2011.02.004.  ^ 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. Retrieved 2009-04-01.  ^ Griffiths, Anthony J.F.; Wessler, Susan R.; Carroll, Sean B.; Doebley, John (2012). "2: Single-Gene Inheritance". Introduction to Genetic Analysis (10th ed.). New York: W.H. Freeman and Company. p. 57. ISBN 978-1-4292-2943-2.  ^ Griffiths, Anthony J.F.; Wessler, Susan R.; Carroll, Sean B.; Doebley, John (2012). Introduction to Genetic Analysis (10th ed.). New York: W.H. Freeman and Company. p. 58. ISBN 978-1-4292-2943-2.  ^ Wade, Nicholas (January 29, 2006). "Japanese Scientists Identify Ear Wax Gene". New York Times.  ^ 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.  ^ Milunsky, edited by Aubrey (2004). Genetic disorders and the fetus : diagnosis, prevention, and treatment (5th ed.). Baltimore: Johns Hopkins University Press. ISBN 0801879280. CS1 maint: Extra text: authors list (link) ^ "Diagnostic Tests – Amniocentesis". Harvard Medical School. Archived from the original on 2008-05-16. Retrieved 2008-07-15.  ^ Ginn, Samantha L.; Alexander, Ian E.; Edelstein, Michael L.; Abedi, Mohammad R.; Wixon, Jo (February 2013). " Gene therapy
Gene therapy
clinical trials worldwide to 2012 - an update". The Journal of Gene Medicine. 15 (2): 65–77. doi:10.1002/jgm.2698.  ^ Verma, I. M. (22 August 2013). "Gene Therapy That Works". Science. 341 (6148): 853–855. doi:10.1126/science.1242551. 

External links[edit]

Public Health Genomics at CDC OMIM — Online Mendelian
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
Disease
Information from the Human Genome Project Global Genes Project, Genetic and Rare Diseases Organization

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Personal genomics

Data collection

Biobank Biological database

Field concepts

Biological specimen De-identification Human genetic variation Genetic linkage Single-nucleotide polymorphisms Identity by descent Genetic disorder

Applications

Personalized medicine Predictive medicine Genetic epidemiology

Analysis techniques

Whole genome sequencing Genome-wide association study SNP array

Major projects

Human Genome Project International HapMap Project 1000 Genomes Project Human Genome Diversity Project

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Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies

(1) Basic domains

1.2

Feingold syndrome Saethre–Chotzen syndrome

1.3

Tietz syndrome

(2) Zinc finger DNA-binding domains

2.1

(Intracellular receptor): Thyroid hormone resistance Androgen insensitivity syndrome

PAIS MAIS CAIS

Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis

2.2

Barakat syndrome Tricho–rhino–phalangeal syndrome

2.3

Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy
Myotonic dystrophy
2

2.5

Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains

3.1

ARX

Ohtahara syndrome Lissencephaly
Lissencephaly
X2

MNX1

Currarino syndrome

HOXD13

SPD1 Synpolydactyly

PDX1

MODY 4

LMX1B

Nail–patella syndrome

MSX1

Tooth and nail syndrome OFC5

PITX2

Axenfeld syndrome
Axenfeld syndrome
1

POU4F3

DFNA15

POU3F4

DFNX2

ZEB1

Posterior polymorphous corneal dystrophy Fuchs' dystrophy
Fuchs' dystrophy
3

ZEB2

Mowat–Wilson syndrome

3.2

PAX2

Papillorenal syndrome

PAX3

Waardenburg syndrome
Waardenburg syndrome
1&3

PAX4

MODY 9

PAX6

Gillespie syndrome Coloboma of optic nerve

PAX8

Congenital
Congenital
hypothyroidism 2

PAX9

STHAG3

3.3

FOXC1

Axenfeld syndrome
Axenfeld syndrome
3 Iridogoniodysgenesis, dominant type

FOXC2

Lymphedema–distichiasis syndrome

FOXE1

Bamforth–Lazarus syndrome

FOXE3

Anterior segment mesenchymal dysgenesis

FOXF1

ACD/MPV

FOXI1

Enlarged vestibular aqueduct

FOXL2

Premature ovarian failure 3

FOXP3

IPEX

3.5

IRF6

Van der Woude syndrome Popliteal pterygium syndrome

(4) β-Scaffold factors with minor groove contacts

4.2

Hyperimmunoglobulin E syndrome

4.3

Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome

4.7

Campomelic dysplasia MODY 3 MODY 5 SF1

SRY XY gonadal dysgenesis Premature ovarian failure 7

SOX10

Waardenburg syndrome
Waardenburg syndrome
4c Yemenite deaf-blind hypopigmentation syndrome

4.11

Cleidocranial dysostosis

(0) Other transcription factors

0.6

Kabuki syndrome

Ungrouped

TCF4

Pitt–Hopkins syndrome

ZFP57

TNDM1

TP63

Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8

Transcription coregulators

Coactivator:

CREBBP

Rubinstein–Taybi syndrome

Corepressor:

HR (Atrichia with papular lesions)

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Genetic disorder, membrane: Solute carrier disorders

1-10

SLC1A3

Episodic ataxia
Episodic ataxia
6

SLC2A1

De Vivo disease

SLC2A5

Fructose malabsorption

SLC2A10

Arterial tortuosity syndrome

SLC3A1

Cystinuria

SLC4A1

Hereditary
Hereditary
spherocytosis 4/ Hereditary
Hereditary
elliptocytosis 4

SLC4A11

Congenital
Congenital
endothelial dystrophy type 2 Fuchs' dystrophy
Fuchs' dystrophy
4

SLC5A1

Glucose-galactose malabsorption

SLC5A2

Renal glycosuria

SLC5A5

Thyroid dyshormonogenesis
Thyroid dyshormonogenesis
type 1

SLC6A19

Hartnup disease

SLC7A7

Lysinuric protein intolerance

SLC7A9

Cystinuria

11-20

SLC11A1

Crohn's disease

SLC12A3

Gitelman syndrome

SLC16A1

HHF7

SLC16A2

Allan–Herndon–Dudley syndrome

SLC17A5

Salla disease

SLC17A8

DFNA25

21-40

SLC26A2

Multiple epiphyseal dysplasia 4 Achondrogenesis
Achondrogenesis
type 1B Recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia

SLC26A4

Pendred syndrome

SLC35C1

CDOG 2C

SLC39A4

Acrodermatitis enteropathica

SLC40A1

African iron overload

see also solute carrier family

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Cell surface receptor
Cell surface receptor
deficiencies

G protein-coupled receptor (including hormone)

Class A

TSHR ( Congenital
Congenital
hypothyroidism 1) LHCGR (Luteinizing hormone insensitivity, Leydig cell hypoplasia, Male-limited precocious puberty) FSHR (Follicle-stimulating hormone insensitivity, XX gonadal dysgenesis) GnRHR (Gonadotropin-releasing hormone insensitivity) EDNRB (ABCD syndrome, Waardenburg syndrome
Waardenburg syndrome
4a, Hirschsprung's disease 2) AVPR2
AVPR2
( Nephrogenic diabetes insipidus 1) PTGER2 (Aspirin-induced asthma)

Class B

PTH1R
PTH1R
(Jansen's metaphyseal chondrodysplasia)

Class C

CASR (Familial hypocalciuric hypercalcemia)

Class F

FZD4
FZD4
( Familial exudative vitreoretinopathy
Familial exudative vitreoretinopathy
1)

Enzyme-linked receptor (including growth factor)

RTK

ROR2
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, Thanatophoric dysplasia, Muenke syndrome) INSR (Donohue syndrome Rabson–Mendenhall syndrome) NTRK1 ( Congenital
Congenital
insensitivity to pain with anhidrosis) KIT (KIT Piebaldism, Gastrointestinal stromal tumor)

STPK

AMHR2 ( Persistent Müllerian duct syndrome
Persistent Müllerian duct syndrome
II)

TGF beta receptors: Endoglin/Alk-1/SMAD4 ( Hereditary
Hereditary
hemorrhagic telangiectasia) TGFBR1/TGFBR2 (Loeys–Dietz syndrome)

GC

GUCY2D
GUCY2D
( Leber's congenital amaurosis 1)

JAK-STAT

Type I cytokine receptor: GH (Laron syndrome) CSF2RA ( Surfactant metabolism dysfunction 4)

MPL ( Congenital
Congenital
amegakaryocytic thrombocytopenia)

TNF receptor

TNFRSF1A
TNFRSF1A
(TNF receptor associated periodic syndrome) TNFRSF13B
TNFRSF13B
( Selective immunoglobulin A deficiency
Selective immunoglobulin A deficiency
2) TNFRSF5 (Hyper-IgM syndrome type 3) TNFRSF13C
TNFRSF13C
(CVID4) TNFRSF13B
TNFRSF13B
(CVID2) TNFRSF6 ( Autoimmune lymphoproliferative syndrome 1A)

Lipid receptor

LRP: LRP2
LRP2
(Donnai–Barrow syndrome) LRP4 (Cenani–Lenz syndactylism) LRP5
LRP5
(Worth syndrome, Familial exudative vitreoretinopathy
Familial exudative vitreoretinopathy
4, Osteopetrosis
Osteopetrosis
1)

LDLR (LDLR Familial hypercholesterolemia)

Other/ungrouped

Immunoglobulin superfamily: AGM3, 6

Integrin: LAD1 Glanzmann's thrombasthenia Junctional epidermolysis bullosa with pyloric atresia

EDAR
EDAR
( EDAR
EDAR
hypohidrotic ectodermal dysplasia)

PTCH1
PTCH1
(Nevoid basal-cell carcinoma syndrome) BMPR1A
BMPR1A
( BMPR1A
BMPR1A
juvenile polyposis syndrome) IL2RG
IL2RG
(X-linked severe combined immunodeficiency)

See also cell surface receptors

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Diseases of ion channels

Calcium channel

Voltage-gated

CACNA1A

Familial hemiplegic migraine
Familial hemiplegic migraine
1 Episodic ataxia
Episodic ataxia
2 Spinocerebellar ataxia type-6

CACNA1C

Timothy syndrome Brugada syndrome
Brugada syndrome
3 Long QT syndrome
Long QT syndrome
8

CACNA1F

Ocular albinism 2 CSNB2A

CACNA1S

Hypokalemic periodic paralysis
Hypokalemic periodic paralysis
1 Thyrotoxic periodic paralysis
Thyrotoxic periodic paralysis
1

CACNB2

Brugada syndrome
Brugada syndrome
4

Ligand gated

RYR1

Malignant hyperthermia Central core disease

RYR2

CPVT1 ARVD2

Sodium channel

Voltage-gated

SCN1A

Familial hemiplegic migraine
Familial hemiplegic migraine
3 GEFS+ 2 Febrile seizure
Febrile seizure
3A

SCN1B

Brugada syndrome
Brugada syndrome
6 GEFS+ 1

SCN4A

Hypokalemic periodic paralysis
Hypokalemic periodic paralysis
2 Hyperkalemic periodic paralysis Paramyotonia congenita Potassium-aggravated myotonia

SCN4B

Long QT syndrome
Long QT syndrome
10

SCN5A

Brugada syndrome
Brugada syndrome
1 Long QT syndrome
Long QT syndrome
3

SCN9A

Erythromelalgia Febrile seizure
Febrile seizure
3B Paroxysmal extreme pain disorder Congenital
Congenital
insensitivity to pain

Constitutively active

SCNN1B/SCNN1G

Liddle's syndrome

SCNN1A/SCNN1B/SCNN1G

Pseudohypoaldosteronism
Pseudohypoaldosteronism
1AR

Potassium channel

Voltage-gated

KCNA1

Episodic ataxia
Episodic ataxia
1

KCNA5

Familial atrial fibrillation
Familial atrial fibrillation
7

KCNC3

Spinocerebellar ataxia type-13

KCNE1

Jervell and Lange-Nielsen syndrome Long QT syndrome
Long QT syndrome
5

KCNE2

Long QT syndrome
Long QT syndrome
6

KCNE3

Brugada syndrome
Brugada syndrome
5

KCNH2

Short QT syndrome

KCNQ1

Jervell and Lange-Nielsen syndrome Romano–Ward syndrome Short QT syndrome Long QT syndrome
Long QT syndrome
1 Familial atrial fibrillation
Familial atrial fibrillation
3

KCNQ2

BFNS1

Inward-rectifier

KCNJ1

Bartter syndrome
Bartter syndrome
2

KCNJ2

Andersen–Tawil syndrome Long QT syndrome
Long QT syndrome
7 Short QT syndrome)

KCNJ11

TNDM3

KCNJ18

Thyrotoxic periodic paralysis
Thyrotoxic periodic paralysis
2

Chloride channel

CFTR

Cystic fibrosis Congenital
Congenital
absence of the vas deferens

CLCN1

Thomsen disease Myotonia congenita

CLCN5

Dent's disease

CLCN7

Osteopetrosis
Osteopetrosis
A2, B4

BEST1

Vitelliform macular dystrophy

CLCNKB

Bartter syndrome
Bartter syndrome
3

TRP channel

TRPC6

FSGS2

TRPML1

Mucolipidosis type IV

Connexin

GJA1

Oculodentodigital dysplasia Hallermann–Streiff syndrome Hypoplastic left heart syndrome

GJB1

Charcot–Marie–Tooth disease
Charcot–Marie–Tooth disease
X1

GJB2

Keratitis–ichthyosis–deafness syndrome Ichthyosis hystrix Bart–Pumphrey syndrome Vohwinkel syndrome)

GJB3/GJB4

Erythrokeratodermia variabilis Progressive symmetric erythrokeratodermia

GJB6

Clouston's hidrotic ectodermal dysplasia

Porin

AQP2

Nephrogenic diabetes insipidus 2

See also: ion channels

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Genetic disorder, organelle: Peroxisomal disorders and lysosomal structural disorders (E80.3, 277.86)

Peroxisome biogenesis disorder

Zellweger syndrome Neonatal adrenoleukodystrophy Infantile Refsum disease Adult Refsum disease-2 RCP 1

Enzyme-related

Acatalasia RCP 2&3 Mevalonate kinase deficiency D-bifunctional protein deficiency Adult Refsum disease-1

Transporter-related

X-linked adrenoleukodystrophy

Lysosomal

Danon disease

See also: proteins, intermediates

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Diseases of cilia

Structural

receptor: Polycystic kidney disease

cargo: Asphyxiating thoracic dysplasia

basal body: Bardet–Biedl syndrome

mitotic spindle: Meckel syndrome

centrosome: Joubert syndrome

Signaling

Nephronophthisis

Other/ungrouped

Alström syndrome Primary ciliary dyskinesia Senior–Løken syndrome Orofaciodigital syndrome 1 McKusick–Kaufman syndrome Autosomal recessive polycystic kidney

See also: ciliary proteins

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Diseases of collagen, laminin and other scleroproteins

Collagen
Collagen
disease

COL1:

Osteogenesis imperfecta Ehlers–Danlos syndrome, types 1, 2, 7

COL2:

Hypochondrogenesis Achondrogenesis
Achondrogenesis
type 2 Stickler syndrome Marshall syndrome Spondyloepiphyseal dysplasia congenita Spondyloepimetaphyseal dysplasia, Strudwick type Kniest dysplasia
Kniest dysplasia
(see also C2/11)

COL3:

Ehlers–Danlos syndrome, types 3 & 4

Sack–Barabas syndrome

COL4:

Alport syndrome

COL5:

Ehlers–Danlos syndrome, types 1 & 2

COL6:

Bethlem myopathy Ullrich congenital muscular dystrophy

COL7:

Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Bart syndrome Transient bullous dermolysis of the newborn

COL8:

Fuchs' dystrophy
Fuchs' dystrophy
1

COL9:

Multiple epiphyseal dysplasia 2, 3, 6

COL10:

Schmid metaphyseal chondrodysplasia

COL11:

Weissenbacher–Zweymüller syndrome Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia
(see also C2/11)

COL17:

Bullous pemphigoid

COL18:

Knobloch syndrome

Laminin

Junctional epidermolysis bullosa Laryngoonychocutaneous syndrome

Other

Congenital
Congenital
stromal corneal dystrophy Raine syndrome Urbach–Wiethe disease TECTA

DFNA8/12, DFNB21

see als

.