Genetic Conditions Inheritence Pattern

Acute Intermittent Porphryia

AD (10% Symptomatic)

Alpha Thalassemia

AR (Complex)

Beta Thalassemia

AR

Factor V Leiden

AD, AR

Hemophilia A

XLR

Hemophilia B

XLR

Hemochromatos is

AR (low penetrance)

22q11 Deletion

AD (93% de novo)

Alagille Syndrome

AD (50-70% de novo)

Brugada

AD

Hereditary Hemmorrhagic Telangiectasia

AD

Holt Oram

AD (85% de novo)

LEOPARD

AD

Noonan Syndrome

AD

Williams

AD (most de novo)

HBOC (Hereditary Breast and Ovarian Cancer)

AD

FAP (familial adenomatous polyposis)

AD (15-30% de novo)

HNPCC (hereditary nonpolyposis colorectal cancer) aka Lynch Syndrome

AD

Li Fraumeni

AD

MEN1

AD

MEN2

AD

NF2 (Neurofibromatosis type 2)

AD

PTEN Hamartoma Tumor Syndrome

AD

Tuberous Sclerosis

AD (66% de novo)

Von-Hippel Lindau

AD

Xeroderma Pigmentosum

AR

Aarskog Syndrome

XLR

Antley Bixler Syndrome

AR

Bardet-Biedl Syndrome

AR (10% triallelic)

BOR Syndrome

AD

CHARGE (Coloboma, Heart defects, Choanal atresia, Retardation of growth and development, Genital and urinary tract abnormalities, Ear and hearing problems) Association

AD

Coffin Lowry Syndrome

XLD

Cornelia de Lange

AD, XLR

Cri du Chat

AD (12% due to translocation/i nv in parents, 85% de novo)

Fryns Syndrome

AR

Greig Cephalopolysyn dactyly

AD

Joubert Syndrome

AR

1p36 deletion

De novo (Most maternally derived)

Prader Willi Syndrome

Autosomal, paternal

Rubenstein-Tay bi

AD (most de novo!)

Smith Magenis

AD (usually sporadic)

Triploidy

Sporadic

Trisomy 13

20% due to translocation

Trisomy 18

Less than 1% due to translocation

Trisomy 21

5% due to Robertsonian translocation or iso21

VACTERL (Vertebral defects, Anorectal malformations, Cardiac defects, Tracheoesophageal fistula, Esophageal atresia, Renal defects, Limb defects) Association

Isolated

Wolf-Hirschorn

87% de novo, 13% from balanced translocation parent

Hidrotic Ectodermal Dysplasia

AD

Hypohidrotic Ectodermal Dysplasia

XLR

Incontinentia Pigmenti

XLD (male lethal)

Oculocutaneous Albinism

AR

ALS (Amyotrophic lateral sclerosis)

AD

CMT (Charcot-Marie-Tooth disease)

AD

DMD (Duchenne muscular dystrophy)/BMD (Becker muscular dystrophy)

XLR

Friedreich's Ataxia

AR

Hereditary Neuropathy with Liability to Pressure Palsies

AD

Limb Girdle Muscular Dystrophy

AR

Myotonic Dystrophy Type 1

AD

Nemalin Myopathy

AR or AD

SMA (Spinal Muscular Atrophy)

AR

Syndromic Congenital Muscular Dystrophy

AR

Tay Sachs

AR

Beckwith-Wiedmann

AD (15%)

Sotos Syndrome

AD

Ataxia Telangiectasia

AR

Bloom Syndrome

AR

Fanconi Anemia

AR

X Linked Adrenoleukodyst rophy

XLR

Alzheimer's Disease (Before 60)

AD

Angelman Syndrome

Autosomal, maternal

CADASIL (Cerebral, Autosomal dominant, Arteriopathy, Subcortical, Infarcts and leukoencephalopathy)

AD

Canavan Disease

AR

Familial Dysautonomia

AR

Fragile X

XLR

Huntington's disease

AD

Krabbe

AR

NF1 (Neurofibromatosis Type 1)

AD (50% de novo)

Parkinson Disease

AD, AR, Multifactorial

Rett Syndrome

XLD

Wilson Disease

AR

X Linked Agammaglob ulinemia

XLR

Familial Mediterranean Fever

AR

Alpha-1-Antitryp sin Deficiency

AR

CFTR Related Disorders

AR

BPES (Blepharophimosis, ptosis, epicanthus inversus syndrome)

AD (50% de novo)

Congenital Hearing Loss

AR

Hermansky-Pudlak Syndrome

AR

Jervell-Lange- Nielsen Syndrome

AR

Leber Hereditary Optic Neuropathy

Mitochondrial

Pendred Syndrome

AR

Usher Syndrome

AR

Waardenburg Syndrome

AD

Achondroplasia

AD

Cleidocranial Dysplasia

AD

Diastrophic Dysplasia

AR

FGFR-Related Craniosynostosis

AD

Hypochondroplasia

AD

Multiple Exostoses Syndrome

AD

Osteogenesis Imperfecta

AD (rare AR)

Saethre-Chotzen Syndrome

AD