List of Genetic Disorders

The following is a list of genetic disorders and if known, causal type of mutation and the chromosome involved. The list of human genes includes genes not listed here, which also affect predisposition toward certain diseases.

  • P – Point mutation, or any insertion/deletion entirely inside one gene
  • D – Deletion of a gene or genes
  • C – Whole chromosome extra, missing, or both (see chromosomal aberrations)
  • T – Trinucleotide repeat disorders: gene is extended in length

More common disorders

Disorder Mutation Chromosome
22q11.2 deletion syndrome D 22q
Angelman syndrome DCP 15
Canavan disease 17p
Coeliac disease
Charcot–Marie–Tooth disease
Color blindness P X
Cri du chat D 5
Cystic fibrosis P 7q
Down syndrome C 21
Duchenne muscular dystrophy D Xp
Haemochromatosis P 6
Haemophilia P X
Klinefelter syndrome C X
Neurofibromatosis 17q/22q/?
Phenylketonuria P 12q
Polycystic kidney disease P 16 (PKD1) or 4 (PKD2)
Prader–Willi syndrome DC 15
Sickle-cell disease P 11p
Tay–Sachs disease P 15
Turner syndrome C X

Read more about List Of Genetic Disorders:  Full List

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... Sortable table Disorder name Mutation type Chromosome 1p36 deletion syndrome D 1p36 18p deletion syndrome D 18p 21-hydroxylase deficiency 6p21.3 45,X C X 47,XX,+21 C ...

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