Inheritance of Diseases Flashcards
NF1, NF2, TSC
Autosomal Dominant
NF1 - Chromosome 17
NF 2 - Chromosome 22
TSC - Chromosome 16
LiFraumeni Syndrome
Autosomal Dominant
p53
Familial Hypercholesterolemia
Autosomal Dominant
Mutation in LDL or LDL receptors (ApoB100)
Cystinuria
Autosomal Recessive
Defect in PCT transporter - no reabsorption
Urinary Cyanide-Nitroprusside Test is diagnostic
PKU
Autosomal Recessive
No Phenylalanine Hydroxylase or BH4
Fabry Disease
X-Linked Recessive
Alpha-Galactosidase A
Von Hippel-Lindau Disease
Autosomal Dominant
Chromosome 3 –> Renal Cell Carcinoma
Bruton Agammaglobulinemia
X-Linked Recessive
Defect in BTK gene - Tyrosine Kinase
Hunter Syndrome
X-Linked Recessive
Iduronate sulfatase
Lesch-Nyhan Syndrome
X-Linked Recessive
Absent HGPRT
TX: Allopurinol or Febuxostat
Sickle Cell Anemia
Autosomal Recessive
Glutamic Acid to Valine Missense in Beta Globin gene
Chromosome 11
Rett’s Syndrome
X-Linked Dominant
De novo mutation of MECP2
Wiskott-Aldrich Syndrome
X-Linked Recessive
WASp gene
Thrombocytopenia, Eczema, Recurrent infections
CAG repeats
Huntington Disease
Autosomal Dominant
Atrophy of Caudate and Putamen
Chromosome 4
Hurler Syndrome
Autosomal Recessive
a-L-Iduronidase
Gargoylism, Airway obstruction, Corneal Clouding, Hepatosplenomegaly
GAA
Friedrich Ataxia
Chromosome 9 - Frataxin gene
Necessary for Mitochondrial IRON REGULATION - free radical damage to neurons
Diabetes, Pes Cavus, Kyphoscoliosis, Hypertorphic Cardiomyopathy
Huntington Disease
Autosomal Dominant
CAG Repeats - Chromosome 4
Hereditary Hemorrhagic Telangiectasia
Autosomal Dominant
Osler Weber Rendu
Glycogen Storage Diseases
Autosomal Recessive
CTG repeats
Myotonic Dystrophy
Cataracts
Toupee
Gonadal Atrophy
Cystic Fibrosis
Autosomal Recessive
CFTR - Deletion of Phe508
Chromosome 7
MSUD
Autosomal Recessive
Decreased Branched Chain alpha-Ketohydrogenase
THIAMINE as Cofactor
CGG repeats
Fragile X
X-Linked Dominant
FMR1 gene - Hypermethylation
Marfan Syndrome
Autosomal Dominant
Fibrillin-1 - Chromosome 15
Forms a sheath around elastin
Fragile X
X-Linked Dominant
CGG Repeats
FMR1 gene - Hypermethylation
Duchenne (and Becker) Muscular Dystrophy
X-Linked Recessive DMD gene - point mutation, either frameshift or non-frameshift Dilated Cardiomyopathy (vs. Freidrich which is HCM)
Childhood Polycystic Kidney Disease
Autosomal Recessive
Associated with Congenital Hepatic fibrosis
Can lead to Potter sequence
Achondroplasia
Autosomal Dominant
FGFR3 gene
G6PD Deficiency
X-Linked Recessive
Charcot Marie Tooth
X-Linked Dominant
Defective proteins for peripheral nerves or myelin sheath
Pes cavus, Hammer toe, Lower extremity weakness
Lysosomal Storage Diseases
except Fabry
Autosomal Recessive
Hereditary Spherocytosis
Autosomal Dominant
Ankyrin Band 3, Protein 4.2, Spectrin
TX: Splenectomy
Familial Adenomatous Polyposis
Autosomal Dominant
APC - Tumor Suppressor Gene
Chromosome 5
Multiple Endocrine Neoplasia
Autosomal Dominant
MEN1 - Menin Chromosome 11
MEN 2A/B - RET (Chromosome 10)
Wilson Disease
Autosomal Recessive
ATP7B gene - Copper Transporting ATPase
Chromosome 13
TX: Chelation with Penicillamine, Trientine, Oral Zinc
Kartagener Syndrome
Autosomal Recessive
Defect in Dynein arms affecting cilia
Albinism
Autosomal Recessive
Locus Heterogeneity - mutations at different loci
Chediak - LYST mutation
Loss of Tyrosine Hydroxylase
Hemochromatosis
Autosomal Recessive
HFE Gene - Chromosome 6
HLA-A3
Dilated/Restrictive Cardiomyopathy
Thalassemias
Autosomal Recessive
Allelic Heterogeneity - different mutations, same locus
Mutations in SPLICE SITES and Promoter Regions
Hemophilia A and B
X-Linked Recessive
A = Factor VIII B = Factor IX
Hemophilia C (AR) = Factor XI
Alport Syndrome
X-Linked Dominant
Type IV Collagen
Hearing loss, Cataracts, Nephritic Syndrome
“Can’t see, can’t pee, can’t hear a bee”
Adult Polycystic Kidney Disease
Autosomal Dominant
PKD1 (85%) - Chromosome 16
PKD2 (15%) - Chromosome 4
Berry aneurysms
TX: ACE-I’s or ARBs
Adrenoleukodystrophy
X-Linked Recessive
Disrupted VLCFA’s –> Excessive buildup in nercous system, adrenal gland, testes
Zellweger’s - peroxisomal disorder
Ornitine Transcarbamylase (OTC) Deficiency
X-Linked Recessive
Most common Urea Disorder - Hyperammonemia
Poliomyelitis/Werdnig-Hoffman
Autosomal Recessive
Congenital degeneration of Anterior Horn LMNs
Polio = Asymmetric weakness
Werdnig = Symmetric Weakness
Menke’s Disease
X-Linked Recessive
Impaired copper absorption (ATP7a)
Decreased acitivity of lysyl oxidase –> Decreased collagen cross-linking in ECM
Liddle Syndrome
Autosomal Dominant
all others are recessive - Bartter, Gitelmann
