Autosomal Dominant diseases at a glance
Autosomal dominant disorders are
manifested in the heterozygous state ,so that at least one parent of an index
case is usually affected ;both males and females are affected ,and both can
transmit the condition .When an affected person marries an unaffected one ,every
child has one chance in two of having diseases.,
In autosomal dominant diseases both
sex are equally affected and risk remains the same for each successive pregnancy.
50% offspring’s are affected if one heterogygus parent and one unaffected
parent. 75% offspring’s are affected if two heterogygus parents And 100^
offspring’s are affected if one homogygus affected parents.
Example: There are about 1500 autosomal dominant disorder,here some important are given
1.
Achondroplasia
2.
Adult
polycystic kidney diseases
3.
Acute
intermittent porphyria
4.
Ehelers-Danlos
syndrome
5.
Erythropoitic
protoporphyria
6.
Facio-scapulo-humeral
muscular dystrophy
7.
Familial
adenometous polyposis coli
8.
Familial
hypercholesterolaemia
9.
Gardner’s
syndrome
10. Hepatic porphyrias
11. Hereditary haemorrhagic telangiectasia (OslerWeber-Rendu Diseases)
12. Hereditary sensory and motor neuropathy
13. Hereditary spherocytosis
14. Hutingtong
chorea
15. Hypertrophic obstructive cardiomyopathy
16. Myotonic dystrophy / Distrophia myotonica
17. Marfan’s syndrome
18. Neurofibromatosis type 1 & 2
19. Noonan syndrome
20. Neurohypophysial Diabetes incipidus
21. Osteogenesis imperfecta
22. Pseudo hypoparathyroidism
23. Retinitis pigmentosa
24. Retinoblastoma
25. Tuberous sclerosis
26. Von Hippel –Lindau disease
27. Von Willebrand’s diseases etc.
Collected and concise only for postgraduate students, Pictures are collected from Google.
Some data are collected from Robbins and Cotran
pathologic basis of disease (8th edition)
For more information please visit...
https://en.m.wikipedia.org/wiki/Category:Autosomal_dominant_disorders
http://www.gpnotebook.co.uk/simplepage.cfm?ID=1248526374
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