Basic Classification of Genetic Diseases

Duchenne MD

dystrophin abnormality

symptoms due to X-inactivation skewing

out of frame mutation (more severe)

mainly in males

Becker MD

dystrophin abnormality

symptoms due to X-inactivation skewing

in of frame mutation (less severe)

mainly in males

hemophilia

X linked recessive disorder

red-green colorblindness

X linked recessive disorder

Menkes syndrome

X-linked recessive

mainly in males

ATPase copper transport abnormality

hypophosphatemic rickets

X-linked dominant

PHEX mutation

Aicardi Syndrome

X-linked dominant

unknown gene

incontinentia pigmenti

X-linked dominant

IKBKG (NEMO) mutation

Rett Syndrome

X-linked dominant

MeCP2 mutation

MELAS

Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes

mitochondrial disorder

MERRF

mitochondrial disorder

myoclonic epilepsy with ragged red fibers

LHON

mitochondrial disorder

Leber's hereditary optic neuropathy

prader-willi syndrome

15q deletion

paternal genetic imprint

angelman syndrome

chromosome 15 deletion

maternal genetic imprint

Beckwith-Wiedemann syndrome

many different causes

maternal or paternal genomic imprinting varies

Russel-Silver Syndrome

11p15.5

uniparental disomy of chromosome 7

maternal or paternal genomic imprinting varies

myotonic dystrophy

autosomal dominant

inherited exclusively from mother

trinucleotide disorder

huntington disease

autosomal dominant

4p16.3 = CAG trinucleotide repear

Fragile X syndrome

most common inherited intellectual disability

CGG trinucleotide expansion in FMR1