مرض وراثي - المعرفة

Genetic disorder
التبويب والمصادر الخارجية
التخصص	علم الوراثة الطبي
Patient UK	فشل عرض الخاصية P1461: لم يتم العثور على الخاصية P1461. مرض وراثي
MeSH	D030342
[edit on Wikidata]

المرض الوراثي genetic disorder، هو مرض ينتجع عن خلل في جين أو كروموسوم واحد أو أكثر، خاصة عند حدوثه قبل الولادة. معظم الأمراض الوراثية نادرة جداً وتصيب شخص كل عدة آلاف أو ملايين شخص.

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الأمراض أحادية الجين

انتشار بعض الأمراض أحادية الجين
انتشار المرض (تقريبياً)
وراثي سائد
فرط كوليستيرول الدم العائلي	1 كل 500
كلية متعددة الكيسات	1 كل 1250
ورام ليفي عصبي - النمط الأول	1 كل 2,500
كثرة كرات الدم الحمراء الوراثية	1 كل 5,000
متلازمة مارفان	1 في 4,000 ^[1]
مرض هنتنگتون	1 كل 15,000 ^[2]
وراثي متنحي
فقر الدم المنجلي	1 كل 625 (أفريقي)
تليف كيسي	1 كل 2,000 (قوقازي)
عوز ليباز البروتين الشحمي العائلي	1 كل 40,000
داء تاي زاكس	1 كل 3,000 (اليهود الأمريكان)
بيلة الفينيل كيتون	1 كل 12,000
أدواء عديد السكاريد المخاطي	1 كل 25,000
داء اختزان الگليكوجين	1 كل 50,000
وجود الگالاكتوز في الدم	1 in 57,000
مرتبط بالكرموسوم إكس
Duchenne muscular dystrophy	1 كل 7,000
هيموفيليا	1 كل 10,000
القيم حسب عدد الأطفال الأحياء

الوراثي المتنحي

الوراثي السائد

السائد بالكروموسوم إكس

المتنحي المرتبط بالكرموسوم إكس

المرتبط بالكرموسوم واي

المتقدري

متعددة العوامل ومتعددة الجينات (معقدة)

تشخيص وعلاج الأمراض الوراثية

انظر أيضا

المصادر

^ Keane MG, Pyeritz RE (2008). "Medical management of Marfan syndrome". Circulation. 117 (21): 2802–13. doi:10.1161/CIRCULATIONAHA.107.693523. PMID 18506019. {{cite journal}}: Unknown parameter |month= ignored (help)
^ Walker FO (2007). "Huntington's disease". Lancet. 369 (9557): 221. doi:10.1016/S0140-6736(07)60111-1. PMID 17240289. {{cite journal}}: More than one of |pages= and |page= specified (help)

وصلات خارجية

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

v t e 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 2 2.5: Autoimmune polyendocrine syndrome type 1
(3) Helix-turn-helix domains	3.1: ARX (Ohtahara syndrome, Lissencephaly X2) • HLXB9 (Currarino syndrome) • HOXD13 (SPD1 Synpolydactyly) • IPF1 (MODY 4) • LMX1B (Nail–patella syndrome) • MSX1 (Tooth and nail syndrome, OFC5) • PITX2 (Axenfeld syndrome 1) • POU4F3 (DFNA15) • POU3F4 (DFNX2) • ZEB1 (Posterior polymorphous corneal dystrophy 3, Fuchs' dystrophy 3) • ZEB2 (Mowat-Wilson syndrome) 3.2: PAX2 (Papillorenal syndrome) • PAX3 (Waardenburg syndrome 1&3) • PAX4 (MODY 9) • PAX6 (Gillespie syndrome, Coloboma of optic nerve) • PAX8 (Congenital hypothyroidism 2) • PAX9 (STHAG3) 3.3: FOXC1 (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 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)
see also transcription factors ب بنيوية (پروكسي, skel, cili, متق, نوا, sclr) • تخليق دنا/رنا/پروتين (دنسخ, trfc, tscr, tltn) • غشاء (icha, slcr, atpa, abct, othr) • transduction (iter, csrc, itra), trfk

v t e Genetic disorder, membrane: Solute carrier disorders
1-10	SLC1A3 (Episodic ataxia 6) • SLC2A1 (De Vivo disease) • SLC2A5 (Fructose malabsorption) • SLC2A10 (Arterial tortuosity syndrome) • SLC3A1 (Cystinuria) • SLC4A1 (Hereditary spherocytosis 4/Hereditary elliptocytosis 4) • SLC4A11 (Congenital endothelial dystrophy type 2, Fuchs' dystrophy 4) • SLC5A1 (Glucose-galactose malabsorption) • SLC5A2 (Renal glycosuria) • SLC5A5 (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 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 ب بنيوية (پروكسي, skel, cili, متق, نوا, sclr) • تخليق دنا/رنا/پروتين (دنسخ, trfc, tscr, tltn) • غشاء (icha, slcr, atpa, abct, othr) • transduction (iter, csrc, itra), trfk

Genetic disorder, membrane: cell surface receptor deficiencies

G protein-coupled receptor
(including hormone)

Class A	TSHR (Congenital hypothyroidism 1) • LHCGR (Male-limited precocious puberty) • FSHR (XX gonadal dysgenesis) • EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2) • AVPR2 (Nephrogenic diabetes insipidus 1) • PTGER2 (Aspirin-induced asthma)
Class B	PTH1R (Jansen's metaphyseal chondrodysplasia)
Class C	CASR (Familial hypocalciuric hypercalcemia)
Class F	FZD4 (Familial exudative vitreoretinopathy 1)

Enzyme-linked receptor
(including
growth factor)

RTK	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 insensitivity to pain with anhidrosis) • KIT (KIT Piebaldism, Gastrointestinal stromal tumor)
STPK	AMHR2 (Persistent Mullerian duct syndrome II) TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia) • TGFBR1/TGFBR2 (Loeys-Dietz syndrome)
GC	GUCY2D (Leber's congenital amaurosis 1)

JAK-STAT

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

MPL (Congenital amegakaryocytic thrombocytopenia)

TNF receptor

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

Lipid receptor

LRP: LRP2 (Donnai-Barrow syndrome) • LRP4 (Cenani Lenz syndactylism) • LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, 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 Hypohidrotic ectodermal dysplasia) • PTCH1 (Nevoid basal cell carcinoma syndrome) • BMPR1A (BMPR1A Juvenile polyposis syndrome) • IL2RG (X-linked severe combined immunodeficiency)

see also cell surface receptors
ب بنيوية (پروكسي, skel, cili, متق, نوا, sclr) • تخليق دنا/رنا/پروتين (دنسخ, trfc, tscr, tltn) • غشاء (icha, slcr, atpa, abct, othr) • transduction (iter, csrc, itra), trfk

مرض وراثي, membrane: Channelopathy

Calcium channel

Voltage-gated	CACNA1A (Familial hemiplegic migraine 1, Episodic ataxia 2, Spinocerebellar ataxia type-6) • CACNA1C (Timothy syndrome, Brugada syndrome 3, Long QT syndrome 8) • CACNA1F (Ocular albinism 2, CSNB2A) • CACNA1S (Hypokalemic periodic paralysis 1, Thyrotoxic periodic paralysis 1) • CACNB2 (Brugada syndrome 4)
Ligand gated	RYR1 (Malignant hyperthermia, Central core disease) • RYR2 (CPVT1, ARVD2)

Sodium channel

Voltage-gated

SCN1A (Familial hemiplegic migraine 3, GEFS+ 2, Febrile seizure 3A) • SCN1B (Brugada syndrome 6, GEFS+ 1) • SCN4A (Hypokalemic periodic paralysis 2, Hyperkalemic periodic paralysis, Paramyotonia congenita, Potassium-aggravated myotonia) • SCN4B (Long QT syndrome 10) • SCN5A (Brugada syndrome 1, Long QT syndrome 3) • SCN9A (Erythromelalgia, Febrile seizure 3B, Paroxysmal extreme pain disorder, Congenital insensitivity to pain)

Constitutively active

SCNN1B/SCNN1G (Liddle's syndrome) • SCNN1A/SCNN1B/SCNN1G ( Pseudohypoaldosteronism 1AR)

Potassium channel

Voltage-gated

KCNA1 (Episodic ataxia 1) • KCNA5 (Familial atrial fibrillation 7) • KCNC3 (Spinocerebellar ataxia type-13) • KCNE1 (Jervell and Lange-Nielsen syndrome, Long QT syndrome 5) • KCNE2 (Long QT syndrome 6) • KCNE3 (Brugada syndrome 5) • KCNH2 (Short QT syndrome) • KCNQ1 (Jervell and Lange-Nielsen syndrome, Romano-Ward syndrome, Short QT syndrome, Long QT syndrome 1, Familial atrial fibrillation 3) • KCNQ2 (BFNS1}

Inward-rectifier

KCNJ1 (Bartter syndrome 2) • KCNJ2 (Andersen-Tawil syndrome, Long QT syndrome 7, Short QT syndrome) • KCNJ11 (TNDM3) • KCNJ18 (Thyrotoxic periodic paralysis 2)

Chloride channel

CFTR (Cystic fibrosis, Congenital absence of the vas deferens) • CLCN1 (Thomsen disease, Myotonia congenita) • CLCN5 (Dent's disease) • CLCN7 (Osteopetrosis A2, B4 • BEST1 (Vitelliform macular dystrophy) • CLCNKB (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 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
ب بنيوية (پروكسي, skel, cili, متق, نوا, sclr) • تخليق دنا/رنا/پروتين (دنسخ, trfc, tscr, tltn) • غشاء (icha, slcr, atpa, abct, othr) • transduction (iter, csrc, itra), trfk

v t e مرض وراثي، organelle: Peroxisomal disorders and lysosomal structural disorders (E80.3, 277.86)
Peroxisome biogenesis disorder	Zellweger syndrome • Autosomal 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/Adrenomyeloneuropathy
Lysosomal	Danon disease
انظر أيضاً: پروتينات، وسيطة ب بنيوية (پروكسي, skel, cili, متق, نوا, sclr) • تخليق دنا/رنا/پروتين (دنسخ, trfc, tscr, tltn) • غشاء (icha, slcr, atpa, abct, othr) • transduction (iter, csrc, itra), trfk

v t e مرض وراثي، العضية: Ciliopathy
بنيوية	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 ب بنيوية (پروكسي, skel, cili, متق, نوا, sclr) • تخليق دنا/رنا/پروتين (دنسخ, trfc, tscr, tltn) • غشاء (icha, slcr, atpa, abct, othr) • transduction (iter, csrc, itra), trfk

v t e الأمراض الوراثية، خارج الخلية: مرض الپروتين الصلب (عدا اللامينين والكيراتين)
مرض الكولاگن	COL1: Osteogenesis imperfecta • Ehlers–Danlos syndrome, types 1, 2, 7 COL2: Hypochondrogenesis • Achondrogenesis type 2 • Stickler syndrome • متلازمة مارشال • Spondyloepiphyseal dysplasia congenita • Spondyloepimetaphyseal dysplasia, Strudwick type • Kniest dysplasia (see also C2/11) COL3: Ehlers–Danlos syndrome, types 3 & 4 (Sack–Barabas syndrome) COL4: متلازمة ألپورت 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 1 COL9: Multiple epiphyseal dysplasia 2, 3, 6 COL10: Schmid metaphyseal chondrodysplasia COL11: Weissenbacher–Zweymüller syndrome • Otospondylomegaepiphyseal dysplasia (see also C2/11) COL17: Bullous pemphigoid
لامينين	Junctional epidermolysis bullosa • Laryngoonychocutaneous syndrome
أخرى	Congenital stromal corneal dystrophy • Raine syndrome • Urbach–Wiethe disease • TECTA (DFNA8/12, DFNB21)
انظر أيضا پروتينات ليفية ب بنيوية (پروكسي, skel, cili, متق, نوا, sclr) • تخليق دنا/رنا/پروتين (دنسخ, trfc, tscr, tltn) • غشاء (icha, slcr, atpa, abct, othr) • transduction (iter, csrc, itra), trfk