master genes

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Author:
embryo
ID:
137585
Filename:
master genes
Updated:
2012-02-25 11:02:40
Tags:
anatomy
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Description:
MS1/Mod 6: Anatomy, master genes of development
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  1. BMP4
    • brachydactyly: short digits
    • signaling molecule
  2. SHH
    • holoprosencephaly: hypoplasia or aplasia of forebrain and midline facial features
    • signaling molecule
  3. FGFR3
    • achondroplasia: short stature, proximal shortening of limbs macrocephaly
    • receptor molecule
  4. PTC
    • gorlin: overgrown organs, skeletal anomalies, basal cell carcinoma
    • receptor molecule
  5. RET
    • hirschsprung: aganglionic megacolon
    • receptor molecule
  6. KIT
    • piebaldism: hypopigmented patches of skin
    • receptor molecule
  7. PAX6
    • aniridia: hypoplasia or aplasia of iris
    • transcription factor
  8. SOX9
    • campomelic dwarfism: skeletal dysplasia, sex reversal
    • transcription factor
  9. SOX10
    • Hirschsprung: aganglionic megacolon with features of Waardenburg
    • transcription factor
  10. GLI3
    • polydactyly, post-axial: extra digits on ulnar side of hand and fibular side of foot
    • transcription factor
  11. HOXD13
    • synpolydactyly: fusion of extra digits to other digits
    • transcription factor
  12. PAX3
    • Waardenburg, Type I: hypopigmentation, hearing loss, dystopia canthorum
    • transcription factor
  13. MITF
    • Waardenburg, Type II: hypopigmentation, hearing loss
    • Transcription factor
  14. 7-dehydrocholesterol reductase
    • smith-lemli-opitz: mental retardation, syndactyly, multiple organ abnormalities
    • cholesterol metabolism

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