# 09 AD

## AD

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Achondroplasia/README.md).. Autosomal Dominant [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/autosomal%20dominant%20polycystic%20kidney%20disease/README.md).. Autosomal Dominant [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/familial%20adenomatous%20polyposis/README.md).. Autosomal Dominant [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/familial%20hypercholesterolemia/README.md).. Autosomal Dominant [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/hereditary%20hemorrhagic%20telangiectasia,%20aka%20Osler%20Weber%20Renu/README.md).. Autosomal Dominant [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/hereditary%20spherocytosis/README.md).. Autosomal Dominant [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Huntington%20disease/README.md).. Autosomal Dominant [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Li-Fraumeni%20syndrome/README.md).. Autosomal Dominant [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Marfan%20syndrome/README.md).. Autosomal Dominant [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/multiple%20endocrine%20neoplasias/README.md).. Autosomal Dominant [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/neurofbromatosis%20type%201/README.md).. Autosomal Dominant [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/neurofbromatosis%20type%202/README.md).. Autosomal Dominant [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/tuberous%20sclerosis/README.md).. Autosomal Dominant [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/von%20Hippel-Lindau%20disease/README.md).. Autosomal Dominant

## X

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Ornithine%20transcarbamylase%20defciency/README.md).. X Linked [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Fabry%20disease/README.md).. X Linked [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Wiskott-Aldrich%20syndrome/README.md).. X Linked [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Ocular%20albinism/README.md).. X Linked [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/G6PD%20defciency/README.md).. X Linked [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Hunter%20syndrome/README.md).. X Linked [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Bruton%20agammaglobulinemia/README.md).. X Linked [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Hemophilia%20A%20and%20B/README.md).. X Linked [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Lesch-Nyhan%20syndrome/README.md).. X Linked [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Duchenne,%20Becker%20muscular%20dystrophy/README.md).. X Linked

## AR

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Albinism/README.md).. Autosomal Recessive [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/autosomal%20recessive%20polycystic%20kidney%20disease%20ARPKD/README.md).. Autosomal Recessive [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/cystic%20fbrosis/README.md).. Autosomal Recessive [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/glycogen%20storage%20diseases/README.md).. Autosomal Recessive [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/hemochromatosis/README.md).. Autosomal Recessive [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Kartagener%20syndrome/README.md).. Autosomal Recessive [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/mucopolysaccharidoses,%20except%20Hunter%20syndrome/README.md).. Autosomal Recessive [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/phenylketonuria/README.md).. Autosomal Recessive [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/sickle%20cell%20anemia/README.md).. Autosomal Recessive [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/sphingolipidoses,%20except%20Fabry%20disease/README.md).. Autosomal Recessive [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/thalassemias/README.md).. Autosomal Recessive [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Wilson%20disease/README.md).. Autosomal Recessive

## HLA

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/lupus%20HLA/README.md)DR2, 3., [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/graves%20HLA/README.md)B8, DR3., [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Addison%20HLA/README.md)B8, DR3, 4., [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Diabetes%201%20HLA/README.md)DR3, 4., [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Hashimoto%20HLA/README.md)DR3, 5., [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/celiac%20HLA/README.md)DQ2, 8., [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/addison,%20MG,%20Graves/README.md)B8., [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/psoriatic%20arthritis,%20ankylosing,%20IBD%20arthritis,%20reactive%20arthritis/README.md)B27., [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/MS,%20Hay%20fever,%20SLE,%20goodpasture/README.md)DR2., [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Diabetes%201,%20lupus,%20Graves,%20hashimoto,%20addison/README.md)DR3., [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/RA,%20Diabetes,%20Addison/README.md)DR4., [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/pernicious,%20hashimoto/README.md)DR5.,

## Oncogenes

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/ALK/README.md) Receptor tyrosine kinase.

Lung adenocarcinoma.,

Oncogene

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/BCR-ABL/README.md) Tyrosine kinase.

CML, ALL.,

Oncogene

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/BCL-2/README.md) Antiapoptotic molecule (inhibits apoptosis).

Follicular and diffuse large B cell lymphomas.,

Oncogene

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/BRAF/README.md) Serine/threonine kinase.

Melanoma, non-Hodgkin lymphoma, papillary thyroid carcinoma.,

Oncogene

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/c-KIT/README.md) Cytokine receptor

Gastrointestinal stromal tumor (GIST).,

Oncogene

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/c-MYC/README.md) Transcription factor

Burkitt lymphoma.,

Oncogene [\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/HER2/neu,%20c-erbB2/README.md) Receptor tyrosine kinase

Breast and gastric carcinomas.,

Oncogene

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/JAK2/README.md) Tyrosine kinase

Chronic myeloproliferative disorders.,

Oncogene

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/KRAS/README.md) GTPase

Colon cancer, lung cancer, pancreatic cancer.,

Oncogene

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/MYC-L1/README.md) Transcription factor

Lung tumor.,

Oncogene

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/MYC-N/README.md) Transcription factor

Neuroblastoma.,

Oncogene

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/RET/README.md) Receptor tyrosine kinase

MEN 2A and 2B, medullary thyroid cancer.,

Oncogene

## Tumor Suppressors

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/APC/README.md) Negative regulator of β-catenin/WNT pathway

Colorectal cancer (associated with FAP).,

Tumor suppressor

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/BRCA1/BRCA2/README.md) DNA repair protein

Breast, ovarian, and pancreatic cancer.,

Tumor suppressor

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/CDKN2A/README.md) p16, blocks G1 to S phase

Melanoma, pancreatic cancer.,

Tumor suppressor

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/DCC/README.md)Deleted in Colon Cancer

Colon cancer.,

Tumor suppressor

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/DPC4/SMAD4/README.md)Deleted in Pancreatic Cancer

Pancreatic cancer.,

Tumor suppressor

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/MEN1/README.md) Menin

MEN 1.,

Tumor suppressor

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/NF1/README.md) Neurofbromin (Ras GTPase activating protein)

Neurofibromatosis type 1.,

Tumor suppressor

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/NF2/README.md) Merlin (schwannomin) protein

Neurofibromatosis type 2.,

Tumor suppressor

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/PTEN/README.md) Tyrosine phosphatase of PIP3 (eg, protein kinase B \[AKT] activation)

Breast cancer, prostate cancer, endometrial cancer.,

Tumor suppressor

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Rb/README.md) Inhibits E2F; blocks G1 p S phase

Retinoblastoma, osteosarcoma.,

Tumor suppressor

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/TP53/README.md) p53, activates p21, blocks G1 to S phase

Most human cancers, Li-Fraumeni syndrome.,

Tumor suppressor

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/TSC1/README.md) Hamartin protein

Tuberous sclerosis.,

Tumor suppressor

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/TSC2/README.md) Tuberin protein

Tuberous sclerosis.,

Tumor suppressor

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/VHL/README.md) Inhibits hypoxia inducible factor 1a

von Hippel-Lindau disease.,

Tumor suppressor

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/WT1/README.md) Transcription factor that regulates urogenital development

Wilms tumor nephroblastoma.,

Tumor suppressor

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Genetics/Li-Fraumeni%20syndrome%20includes/README.md) SBLA cancer syndrome: Sarcoma, Breast, Leukemia, Adrenal gland..
