Index of Diseases


Primary Clinical Manifestation


Hered. Non-polyposis colon canc. (HNPCC)

multiple colon cancers

focal loss of heterozygosity for mutS and mutL mismatch repair system

Xeroderma Pigmentosa (XP)

severe multiple skin cancers following exposure to sunlight

no UV-damaged DNA repair

Li-Fraumeni's Syndrome

general cancers at early age

loss of p53, resulting in no apoptosis after DNA damage

trisomy 21 (Down's Syndrome)

mental retardation, growth

extra chromosome 21 (incidence: 1/700)

trisomy 13 (Patau's Syndrome)

neuro probs, holoprosencephaly, facial/body wall probs

extra chromosome 13 (incidence: 1/10000, 90% death by age 1)

trisomy 18 (Edward's Syndrome)

neuro probs, emaciated, rockerbottom feet, short sternum

extra chromosome 18 (incidence: 1/7000, 90% death by age 1)

Carchot-Marie-Tooth Syndrome

neuro probs, mental retardation

microduplication on chromosome 17

Cri-du-Chat Syndrome

malformed larynx (sounds like meow), mental retardation

deletion on chromosome 5p

Chronic Myelogenous Leukemia (CML)


philadelphia chromosome (translocation of chromosomes 9 and 22)

Prader-Willi Syndrome

hyptonia/hypoplasia/hypopig.,short/obese,mental retardation

uniparental disomy (chromosome 15 maternal only) lose SNRPN gene

Angelmann Syndrome

hypotonia,ataxic gait,laughter,seizure,microceph,big tongue

uniparental disomy (chromosome 15 paternal only) lose UBE3A (for prot.degrad in brain dev.)

Velo-Cardio-Facial Syndrome

cleft palate,mental retardation,hypernasal speech,heart probs

deletion of part of chromosome 21q (incidence: 1/2000-4000)

Digiorge syndrome

mental retardation

chromosomal microdeletion

Williams-Heart Syndrome

mental retardation

chromosomal microdeletion

Smith-Magen Syndrome

severe mental retardation

chromosomal microdeletion

Miller-Dieker Lysencephaly

smooth brain

chromosomal microdeletion

Aniridia-Wilms' Tumor Association

renal tumors

chromosomal microdeletion

Hydatiform Mole

cyst in uterus (placental tumor)

no maternal contribution-only extraembryonic tissue

Ovarian Teratoma

ovarian cyst (disorganized embryonic tissue)

no paternal contribution-only embryonic tissue

Beckwith-Wiedemann Syndrome

large infant, large tongue, Wilms' tumor, omphalocele

two paternal chromosome 11 (imprinted IGF2, etc)

Turner's Syndrome

gonadal streak/amenhorrea/infertile, short, aortic coarction

only one X chromosome (45, X)-only women affected (incidence: 1/3000)

Klinefelter Syndrome

hypogonadism, small testes, azoospermia, intertile, tall

47, XXY karyotype-only men affected (incidence: 1/1000)

XYY Syndrome

tall, impulsive, violent (maybe)

XYY karyotype-only men affected (incidence: 1/1000)

Trisomy X

tall, mental retardation, often normal

XXX karyotype-only women affected (incidence: 1/1000)

Familial Retinoblastoma

retinal tumors

focal loss of heterozygosity for Rb tumor suppressor gene


short stature/limbs, normal size head, mental retardation

FGFR3 mutated-hypermorphic (repress bone development too well)-80% new mutation

thanatopheric dysplasia

ribcage too small, death upon birth

FGFR3 mutated-100% new mutation (lethal)

FGFR3-associated coroneal craniosynostosis

coroneal craniosynostosis

FGFR3 mutated

Huntington's Disease

progressive dementia/psych, invol. movement (chorea)

expansion of polyglutamine repeat at C-terminus of Huntington gene (incidence: 3-7/100000)

Lowe Syndrome

ocular/cerebral/renal problems

defective inisitol metabolism

Coffin-Lowry Syndrome

severe mental retardation, short

genetic mutation


no sep. of brain hemisphere, middle part of face missing

genetic mutation

Holt-Oram Syndrome

congenital heart defects, no thumb/radius

genetic mutation

Campomelic Dysplasia

thin bones, chest wall too small, usually death at birth

single copy of SOX9 gene

Marfan Syndrome

heart valve probs/retinal detachment, tall, aortic aneurism

deletion on chromosome 15q, missing fibrillin

Osteogenesis Imperfecta

fragile bones, short

collagen mutation

Ehlers-Danlos Syndrome

flexible joints/skin, weak blood vessals (internal bleeding)

collagen mutation

Hereditary spherocystosis

chronic hemolytic anemia

spectrin mutation

Polycystic Kidney Disease

multiple cysts on kidney

focal loss of heterozygosity of polycystin gene (chromosome 16p)

Cystic Fibrosis

thick secretions, pneumonia, pancreatic insuff, death by 30

defective chloride pump (mutation on chromosome 7)

Kennedy's Disease

no antigen receptor

triplet repeat expansion

Spinocerebral Ataxia Type I

neuro probs

triplet repeat expansion

Deutorubropallidolucian atrophy


triplet repeat expansion

Friedrich's Ataxia


triplet repeat expansion (in chrom. 9 intron-recessive)

Fragile X Syndrome

mental retardation, tall then short, microcephaly, large testic.

loss of function of FMR1 gene (incidence: 1/2000-6000)

Myotonic Dystrophy

myotonia, cardiac arrhythmia, cataracts, diabetes

triplet repeat expansion-chromosome 19q (incidence: 1/7000-8000)

MERFF (monocl. epilep. ragged red fibers)

myopathy (ragged fibers), CNS degen, hearing loss, ataxia

nonsense point mutation on mtDNA respiratory chain protein

MELAS (mito.myopath,enceph,lactate,stroke)

lactic acidosis, myopathy, encephaly, strokelike, dementia

point mutation in mtDNA tRNA

Duchenne's Muscular Dystrophy

muscle degeneration, pseudohypertrophy, resp.insuff

mutation of dystrophin gene (death by 20s)

Spina Bifida

large head, severe neuro probs, early death

failure of neural tube to close

brachydactyly type C

shortening of finger bones (thumb,2,3,5 metacarpal)

mutation in CDMP1 (TGFbeta protein)