Medical Genetics is a book by Dr. Ian Young. This post has some notes from the book on diseases that involve genetic abnormalities.
Chromosome Abnormalities
Down syndrome: 47,XX,+21
Edwards syndrome: 46,XY,+18
Klinefelter syndrome: 47,XXY
Patau syndrome: 47,XX,+13
Turner syndrome: 45,X
XYY syndrome: 47,XYY
Microdeletion Syndromes
Angelman syndrome: 15q11-13
DiGeorge syndrome: 22q11
Prader-Willi syndrome: 15q11-q13
WAGR syndrome: 11p13
Williams syndrome: 7q11.2
Genes and Loci Involved in Diseases and Disorders
A1 brachydactyly: IHH
Achondroplasia: FGFR3
Acute lymphocytic leukemia: BCR-ABL
Adrenal failure: SF1
Adult polycystic kidney disease: PKD1
Alveolar rhabdomyosarcoma: PAX3
Alzheimer disease: APP, APOE, PS1, PS2
Androgen insensitivity: AR
Aniridia: PAX6
Apert syndrome: FGFR2
Basal cell nevus syndrome: PTCH
Beare-Stevenson syndrome: FGFR2
Bladder cancer: H-RAS
Breast cancer: BRCA1, BRCA2, ERBB2
Burkitt’s lymphoma: CMYC
Campomelic dysplasia: SOX9
Childhood leukemia: LMO2
Chronic granulomatous disease: CYBB
Chronic myeloid leukemia: BCR-ABL
Colorectal cancer: K-RAS, NF1, APC
Congenital glaucoma: CYP1B1
Congenital heart defects: NKX2-5
Congenital hypothyroidism: PAX8
Coronary artery disease: ACE
Craniosynostosis, Boston type: MSX2
Crouzon syndrome: FGFR2, FGFR3
Currarino syndrome: HLXB9
Cystic fibrosis: CFTR
Denys-Drash syndrome: WT1
Duchenne muscular dystrophy: DYS
EEC syndrome: TP63
Familial adenomatous polyposis: APC
Familial breast cancer: BRCA1, BRCA2
Female pseudohermaphroditism: SRY
Fragile X syndrome: FMR1
Greig cephalopolysyndactyly syndrome: GLI3
Hand-foot-genital syndrome: HOXA
Hemochromatosis: C282Y
Hereditary non-polyposis colon cancer: MLH1, MSH2, MSH3, MSH6, PMS2
Hirschsprung disease: RET, GDNF, NTN, EDNRB, EDN3
Holoprosencephaly: SHH, GLI2
Huntington disease: IT15
Hypochondroplasia: FGFR3
Hypodontia: PAX9
Leri-Weill dyschondrosteosis: SHOX
Leukemia: CYP2D6
Li-Fraumeni syndrome: TP53
Lung cancer: K-RAS
Male pseudohermaphroditism: SRY
Malignant hypothermia: RYR1
Marfan syndrome: FBN1
Maturity-onset diabetes of the young, type 4: IDX1
Melanoma: NF1
Muenke syndrome: FGFR3
Multiple endocrine adenomatosis type 2: RET
Myeloid leukemia: N-RAS
Myotonic dystrophy: DMPK
Nail-patella syndrome: LMX1B
Neuroblastoma: NMYC, NF1
Neurofibromatosis type 1: NF1
Neurofibromatosis type 2: NF2
Neural tube defects: MTHFR
Ornithin transcarbamylase deficiency: OTC
Pallister-Hall syndrome: GLI3
Pancreatic cancer: K-RAS
Papillary thyroid cancer: RET
Parietal foramina: MSX2
Pfeiffer syndrome: FGFR1, FGFR2
Proteus syndrome: PTEN
Pseudocholinesterase deficiency: BCHE
Radioulnar synostosis: HOXA
Reiger syndrome: PITX2
Renal-coloboma syndrome: PAX2
Retinitis pigmentosa: ROM1
Retinoblastoma: RB1
Rett syndrome: MECP2
Schizophrenia: DTNBP1, NRG1
Synpolydactyly: HOXD
Thanatophoric dysplasia (type 1 and type 2): FGFR3
Thrombocytopenia: HOXA
Treatment related leukemia: CYP3A4
Tuberous sclerosis: TSC1, TSC2
Type 1 diabetes: IDDM1, IDDM2
Type 2 diabetes: MODY1, MODY2, MODY3, MODY4
Von Hippel-Lindau syndrome: VHL
Waardenburg syndrome type 1: PAX3
Waardenburg syndrome type 2: PAX3, SOX10
Waardenburg syndrome type 4: SOX10
Witkop syndrome: MSX1
X-linked severe combined immunodeficiency: IL2RG
