Term
| FBN1 gene encodes Fibrillin 1 |
|
Definition
|
|
Term
| FBN1 (fibrillin gene) for Marfran syndrome located on |
|
Definition
|
|
Term
| Dislocation of lens (ectopia lentis) typical feature in this as well as severe myopia and retinal detatchment |
|
Definition
|
|
Term
| Arachnodactyly,Dolichocephalism, pectus excavatum, pectus carinatum, kyphoscoliosis |
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Definition
|
|
Term
| High arch palate and dental crowding |
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Definition
|
|
Term
| Chromosome 15, FBN1, Fibrillin, Autosomal dominant, missense |
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Definition
|
|
Term
| hyperelasticity, fragility of skin, joint hypermobility, bleeding diathesis |
|
Definition
| Ehlers-Danlos Syndromes (EDSs) |
|
|
Term
| All ten types of this share a generalized defect in collagen |
|
Definition
| Ehlers-Danlos Syndromes (EDSs) |
|
|
Term
| May be Autosomal Dom/Recessive/Autosomal/X-Linked |
|
Definition
| Ehlers-Danlos Syndromes (EDSs) |
|
|
Term
|
Definition
| von Recklinghausen Disease |
|
|
Term
1) Disfiguring Neurofibromas
2) Cafe au lait spots
3) Lisch nodules -pigmented iris spots
4) Freckles in groin or Axilla
5)Gliomas of optic nerve
6) Skeletal abnormalities - thinning of long bones |
|
Definition
| von Recklinghausen Disease |
|
|
Term
| benign schwann cell tumor of peripheral nerves |
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Definition
|
|
Term
| These disorders invovled cells from neural crest: including mealnocytes and endoneurial fibroblast |
|
Definition
| von Recklinghausen Disease |
|
|
Term
| mutations on long arm of chromosome 17 (17q11.2) |
|
Definition
| von Recklinghausen Disease |
|
|
Term
| deletions, missense, and nonsense muations of a tumor supressor gene cause this |
|
Definition
| von Recklinghausen Disease |
|
|
Term
|
Definition
|
|
Term
| proto-oncogene whose proteins are inactivated by NF1 gene product (tumor supressor) |
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Definition
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|
Term
| loss of this activity permits uncontrolled ras activation predisposing to formation of neurofibromas |
|
Definition
|
|
Term
| Syndrome defined by bilateral tumors of eighth cranial nerve (Acoustic neuromas) and by Meningiomas and Gliomas |
|
Definition
| Central neurofibromatosis (Neurofibromatosis type II) |
|
|
Term
| located on Long arm of chromosome 22 |
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Definition
|
|
Term
| encodes tumor supressor gene termed merlin or schwannomin |
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Definition
|
|
Term
| Two of the following can be present without along the complete cardinal sign for diagnosis of this: neurofibroma, meningioma, glioma, schwannoma, or juvenile posterior lenticular opacity |
|
Definition
| Central neurofibromatosis (NFII) |
|
|
Term
1 in 500 adults heterozygous in US
1 in 1,000,000 homozygous |
|
Definition
| Familial hypercholesterolemia |
|
|
Term
| Mutation in gene on short arm of chromosome 19 |
|
Definition
| Familial Hypercholesterolemia |
|
|
Term
| mutation in gene for *cell surface receptor* that removes LDL |
|
Definition
| Familial Hypercholesterolemia |
|
|
Term
| nodules of lipid laden macrophages seen in Familial Hypercholesterolemia |
|
Definition
|
|
Term
|
Definition
| Familial Hypercholesterolemia |
|
|
Term
|
Definition
|
|
Term
| oxidized in LIVER to TYROSINE |
|
Definition
|
|
Term
| interference w/ AA transport in brain leads to decreased synthesis of Neurotransmitters and defective synthesis of myelin |
|
Definition
|
|
Term
| fair skin, blond hair, blue eyes |
|
Definition
|
|
Term
| Mousy or Musty odor in Urine and sweat |
|
Definition
|
|
Term
| Deficiency of Galactose - 1 phosphate Uridyltransferase |
|
Definition
| Galactosemia (auto rec., enzyme) |
|
|
Term
| Reduction in glactose -> glucose |
|
Definition
| Galactosemia (auto rec., enzyme) |
|
|
Term
| Hepatosplenomegaly, jaundice, hypoglycemia, cataracts, mental retardation are common in infants |
|
Definition
| Galactosemia (auto rec., enzyme) |
|
|
Term
| fatty liver, bile duct proliferation, and cirrosis within 6 months of age |
|
Definition
| Galactosemia (auto rec., enzyme) |
|
|
Term
| Mutations in genes for acid hydrolases |
|
Definition
| Lysosomal Storage Diseases (auto rec., enzyme) |
|
|
Term
| cells distend which occurs at expensive of other critical cell components -- affects particularly the BRAIN and HEART leading to failure of cell function |
|
Definition
| Lysosomal Storage Diseases (auto rec., enzyme) |
|
|
Term
| Accumulation of Glucosylceramide in Macrophage Lysosomes |
|
Definition
| Gaucher Disease (auto rec., enzyme) |
|
|
Term
Lipid-laden macrophages seen in : Liver, Lymphatic Nodes, Bone marrow, Spleen
Splenic Enlargement nearly universal |
|
Definition
| Gaucher Disease (auto rec., enzyme) |
|
|
Term
|
Definition
| Type 1 Gaucher (auto rec., enzyme) |
|
|
Term
|
Definition
| Type 2 Gaucher (auto rec., enzyme) |
|
|
Term
Diagnosed as ADULTS
splenomegaly w/ symptoms (leucopenia and thrombocytopenia) NO BRAIN INVOLVEMNT - normal life span |
|
Definition
| Type 1 Gaucher (auto rec., enzyme) |
|
|
Term
| presents by 3 months of age w/ hepatosplenomegaly AND neurological signs |
|
Definition
| Type 2 Gaucher (auto rec., enzyme) |
|
|
Term
Classic triad of:
trismus-strabismus, backward flex neck
most patients die by 1 year |
|
Definition
| Type 2 Gaucher (auto rec., enzyme) |
|
|
Term
| GM2 Gangliosidosis Type 1 |
|
Definition
| Tay-Sachs Disease (auto rec., enzyme) |
|
|
Term
| 6-10 month old catostrophic |
|
Definition
| Tay-Sachs Disease (auto rec., enzyme) |
|
|
Term
| Accdumulation of Ganglioside in neurons in CNS leads to rapid MOTOR and MENTAL degeneratoin |
|
Definition
| Tay-Sachs Disease (auto rec., enzyme) |
|
|
Term
| Involvement of retinal ganglion cells detected as a *CHERRY RED SPOT* |
|
Definition
| Tay-Sachs Disease (auto rec., enzyme) |
|
|
Term
| Enzyme defect: Hexosaminidase |
|
Definition
| Tay-Sachs Disease (auto rec., enzyme) |
|
|
Term
| Lysosomal storage of Sphingomyelin in machrophages of many organs including HEPATOCYTES AND BRAIN |
|
Definition
| Nienmann-Pick Disease (auto rec., enzyme) |
|
|
Term
Type A appears in Infancy with SPLEEN, LIVER, and PSYCHOMOTOR RETARDATION
-death by 3 yrs |
|
Definition
| Nienmann-Pick Disease (auto rec., enzyme) |
|
|
Term
| Type B : Heaptosplenomegaly minimal Neurological symptoms and survival to adulthood |
|
Definition
| Nienmann-Pick Disease (auto rec., enzyme) |
|
|
Term
| Group of lysosomal storage diseases in which glycosaminoglycans accumulate in many organs |
|
Definition
| Mucopolysaccharidoses (enzyme) |
|
|
Term
| All MPSs are inheirited as autosomal rec. except for this which is X linked recessive |
|
Definition
|
|
Term
| undegraded GAGs tend to accumulate in connective tissues, mononuclear phagocytes (including Kupffer cells, endothelial cells, neurons, and hepatocytes |
|
Definition
| Mucopolysaccharidoses (enzyme) |
|
|
Term
| The most important lesions involve the CNS, skeleton, and heart; although hepatosplenomegaly and corneal clouding are common |
|
Definition
| Mucopolysaccharidoses (enzyme) |
|
|
Term
| Initialy CNS only accumulates product later extensive loss of neurons and increasing gliosis occur leading to cortical atrophy. |
|
Definition
| Mucopolysaccharidoses (enzyme) |
|
|
Term
| Communicating hydrocephalus, due to meningeal involvement is common |
|
Definition
| Mucopolysaccharidoses (enzyme) |
|
|
Term
| affects skeleton when product accumulates in CHONDROCYTES, eventually interfering with normal endochondral ossification |
|
Definition
| Mucopolysaccharidoses (enzyme) |
|
|
Term
| Cardiac lesions are often severe. Thickening and distension of valves chordae tendinae, and endocardium. |
|
Definition
| Mucopolysaccharidoses (enzyme) |
|
|
Term
| Coronary arteries are narrowed by INTIMAL thickening caused by product deposits in smooth muscle cells |
|
Definition
| Mucopolysaccharidoses (enzyme) |
|
|
Term
Hepatosplenomegaly occurs due to distension of KUPFFER CELLS in liver and HEPATOCYTES.
Also accumulation of filled up macrophages in SPLEEN |
|
Definition
| Mucopolysaccharidoses (enzyme) |
|
|
Term
| Most severe clinical form of MPS: protype for syndromes |
|
Definition
| Hurler syndrome (auto rec. enzyme) |
|
|
Term
|
Definition
| Hurler syndrome (auto rec. enzyme) |
|
|
Term
Coarse facial features, hearing loss, corneal clouding and progressive mental deterioration
+ Hepatosplenomegaly, skeletal deformities |
|
Definition
| Hurler syndrome (auto rec. enzyme) |
|
|
Term
| Coarse facial features and dwarfism used to be called gargoylism |
|
Definition
| Hurler syndrome (auto rec. enzyme) |
|
|
Term
| Enzyme defect L-Iduronsulfate sulfatase |
|
Definition
| Hunter syndrome (x linked rec. enzyme) |
|
|
Term
Tissues invovled: skin, retina, heart, and bone
Life expetancy: second decade to normal (milder form) |
|
Definition
| Hunter syndrome (x linked rec. enzyme) |
|
|
Term
| All but X-linked phosphorylase kinase deficiency are autosomal recessive |
|
Definition
|
|
Term
| Due to accumulation of glycogen itself |
|
Definition
| Pompe disease, Anderson Disease (auto rec. Enzymes) |
|
|
Term
| Due to lack of glucose from glycogen metabolism |
|
Definition
| Von Gierke, McArdle disease (auto rec. enzymes) |
|
|
Term
| Glucose 6 phosphate is lacking |
|
Definition
| Von Gierke Disease (auto rec. enzyme) |
|
|
Term
|
Definition
| Von Gierke Disease (auto rec. enzyme) |
|
|
Term
Glycogen accumulates in liver.
Inability of liver to convert glycogen to glucose.
Hepatomegaly hypoglycemia
With treatment prognosis for normal mental development and longevity are pretty good |
|
Definition
| Von Gierke Disease (auto rec. enzyme) |
|
|
Term
|
Definition
| Pompe Disease (auto rec. enzyme) |
|
|
Term
| Deficiency in lysosomal enzyme: alpha glucosidase |
|
Definition
| Pompe Disease (auto rec. enzyme) |
|
|
Term
| Leads to accumulation of undegraded glycogen in LYSOSOMES of many cells |
|
Definition
| Pompe Disease(auto rec. enzyme) |
|
|
Term
| Involves virtually all organs and results in death from heart failure before 2. Juvenile and adult variants less common and have better prognosis |
|
Definition
| Pompe Disease (auto rec. enzyme) |
|
|
Term
| Patients do not suffer from hypoglycemia because all the metabolic pathways of glycogen syntehsis and degredation in cyto are intact |
|
Definition
| Pompe Disease (auto rec. enzyme) |
|
|
Term
|
Definition
| Andersen Disease (auto rec. enzyme) |
|
|
Term
| branching enzme amyloglucantransferase lacking |
|
Definition
| Andersen Disease (auto rec. enzyme) |
|
|
Term
| Formation and accumulation of abnormal toxic form of glycogen, amylopectin |
|
Definition
| Andersen Disease (auto rec. enzyme) |
|
|
Term
"Abnormal Product" deposits in the liver, heart, muscle, and nervous system
Children die between 2 and 4 years of age from cirrosis of liver |
|
Definition
| Andersen Disease (auto rec. enzyme) |
|
|
Term
| Liver transplantation is curative |
|
Definition
| Andersen Disease (auto rec. enzyme) |
|
|
Term
|
Definition
| McArdle Disease (auto rec. enzyme) |
|
|
Term
| Lack of muscle phosphorylase |
|
Definition
| McArdle Disease (auto rec. enzyme) |
|
|
Term
| lacks enzyme which releases glucose 1 phosphate from glycogen (muscle phosphorylase) |
|
Definition
| McArdle Disease (auto rec. enzyme) |
|
|
Term
| Symptoms appear in adolescence or early adulthood and consist in muscle crams and spasms during exercise |
|
Definition
| McArdle Disease (auto rec. enzyme) |
|
|
Term
| myocytolysis and resulting myoglobinuira |
|
Definition
| McArdle Disease (auto rec. enzyme) |
|
|
Term
| Most common lethal genetic disorder in white population |
|
Definition
| Cystic Fibrosis (auto rec. enzyme) |
|
|
Term
| The gene messed up is on the long arm of chromosome 7 |
|
Definition
| Cystic Fibrosis (auto rec. enzyme) |
|
|
Term
| Affects many organs that produce exocrine secretions |
|
Definition
| Cystic Fibrosis (auto rec. enzyme) |
|
|
Term
| Chronic Pancreatitis in 85% of pts wit this |
|
Definition
| Cystic Fibrosis (auto rec. enzyme) |
|
|
Term
| Secondary Biliary Cirrhosis due to obstruction of flow of bile |
|
Definition
| Cystic Fibrosis (auto rec. enzyme) |
|
|
Term
| Meconium Ileus (failure to pass Meconium in immediate post partum period) in 5% to 10% of newborns with this |
|
Definition
| Cystic Fibrosis (auto rec. enzyme) |
|
|
Term
Almost all boys will have atrophy of Reproductive Duct System, Vas Deferent, epidymis, and seminal vesicles
only 2 to 3 percent are fertile |
|
Definition
| Cystic Fibrosis (auto rec. enzyme) |
|
|
Term
| Most common chromosomal disorder |
|
Definition
| Down Syndrome (Trisomy 21) |
|
|
Term
NON DISJUNCTION in FIRST meiotic division : 92 to 95% of patients
Translocation of extra long arm of chromsome to another acrocentric chromosome casuses about 5%
MOSAICISM by nondisjunction during MITOSIS in SOMATIC cell early in embryogenesis is 2% |
|
Definition
| Down Syndrome (Trisomy 21) |
|
|
Term
Strong association with Alzheimer Disease
dont need to know but b-amyloid is encoded on same chromosome |
|
Definition
| Down Syndrome (Trisomy 21) |
|
|
Term
| High risk of developing Leukemia at all ages |
|
Definition
| Down Syndrome (Trisomy 21) |
|
|
Term
| Atrial/Ventricular defects, Tetralogy of Fallot, Patent Ductus Arterisus (PDA) |
|
Definition
| Down Syndrome (Trisomy 21) |
|
|
Term
| Irides speckled with Brushfield Spots |
|
Definition
| Down Syndrome (Trisomy 21) |
|
|
Term
| Hirschsprung disease (megacoloon) 2-3 perent of children |
|
Definition
| Down Syndrome (Trisomy 21) |
|
|
Term
|
Definition
| Edwards syndrome (Trisomy 18) |
|
|
Term
| 80% without heart disease can survive 30 years. 10% reach age 70. Majority who make it to middle age have Alzheimers |
|
Definition
| Down Syndrome (Trisomy 21) |
|
|
Term
| Second most common autosomal syndrome |
|
Definition
| Edwards syndrome (Trisomy 18) |
|
|
Term
| prominent cause of Male hypognadism and infertility |
|
Definition
|
|
Term
80% have one extra X Chromosome
Minority are mosaics (46 XY/47 XXY)
Minority has more than two X chromosomes (48 XXXY) |
|
Definition
|
|
Term
| Up to four extra chromosomes |
|
Definition
|
|
Term
| Additional X chromosomes due to Meiotic non disjunction during GAMETOGENESIS |
|
Definition
|
|
Term
| testes do not responde to Gonadotropin stimulation |
|
Definition
|
|
Term
| Seminiferous tubules suffer atrophy, hyalinization, and peritubular fibrosis |
|
Definition
|
|
Term
| Leydig cells increased in number, but function impaired even w/ elevated LH levels (low test) |
|
Definition
|
|
Term
| Female escutcheon (female pattern of pubic hair) |
|
Definition
|
|
Term
Increased FSH, LH, erstradiol levels
estradiol: testosterone ratio increases
Azospermia |
|
Definition
|
|
Term
| complete or partial X chromosome monosomy in phenotypic female |
|
Definition
|
|
Term
| 55% monosomy (45X karyotype) |
|
Definition
|
|
Term
| hallmark: sexula infantilism with primary amenorrhea and sterility |
|
Definition
|
|
Term
| ptergtium coli (webbed neck) short stature, broad chest, wide nipples, cubitus Valgus (wide carrying angle of arms) |
|
Definition
|
|
Term
| *Coarction of aorta (15% OF PATIENTS)** |
|
Definition
|
|
Term
| Pigmented nevi become prominent as patient ages |
|
Definition
|
|
Term
| Facial abnormalities: small mandible, prominent ears, epicanthal folds - defective hearing and vision |
|
Definition
|
|
Term
| 20% may be mentally defective |
|
Definition
|
|
Term
| greater risk of chronic autoimmune Thyroiditis and goiter |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Rudimentary ovaries w/ high pituitary Gonadotropin levels |
|
Definition
|
|
Term
| second most common genetic cause of mental retardation, after down syndrome |
|
Definition
|
|
Term
| prototype of diseases in which the mutation is characterized by a long REPEATING SEQUENCE OF THREE NUCLEOTIDES (share guanine (g) and cytosine (C) |
|
Definition
|
|
Term
| unusual mutation within the familial mental retardation-1 gene (FMR1) |
|
Definition
|
|
Term
| X linked disorder characterized by an inducible cytogenic abnormality in the X chromsome + unusual mutation within the FMR1 gene |
|
Definition
|
|
Term
| Long face w/ large mandible, large everted ears, large testicles (macro-orchidism observed in 90%+) |
|
Definition
|
|
Term
| prototype of disease associated with mitochondrial inheritance (mutation in mitochondrial DNA (mtDNA)) |
|
Definition
| Leber hereditary Optic Neuropathy |
|
|
Term
| Mutation is on the subunit genes of the oxidative phosphorylation chain in the mitochondria |
|
Definition
| Leber hereditary Optic Neuropathy |
|
|
Term
| Mostly affects organs dependent on oxidative phosphorylation: CNS, skeletal muscle, cardiac muscle, liver, kidneys |
|
Definition
| Leber hereditary Optic Neuropathy |
|
|
Term
| *NEURODEGENERATIVE* disease manifests as a progressive BILATERAL loss of cnetral vision |
|
Definition
| Leber hereditary Optic Neuropathy |
|
|
Term
| Visual impairment is first noted between ages 15 and 35, eventually leads to blindness |
|
Definition
| Leber hereditary Optic Neuropathy |
|
|
Term
| mental retardation, short stature, hypotonia, profound HYPERPHAGIA, obesity, small hands and feet, hypogonadism |
|
Definition
|
|
Term
| mentally retarded, also ataxic gait, seizures, INAPPROPRIATE LAUGHTER |
|
Definition
|
|
Term
| refered to as "happy puppets" due to ataxia and inapropriate laughter |
|
Definition
|
|
Term
| molecular basis is genomic imprinting |
|
Definition
| Angleman syndrome/Prader Willi syndrome |
|
|
Term
when maternal chromosome imprinted and only
*P*arental remains... |
|
Definition
|
|
Term
paternal gene on chrom 15 silenced
*m*aternal gene has deletion |
|
Definition
|
|
Term
*p*aternal gene on chrom 15 deleted
maternal gene silenced |
|
Definition
|
|
Term
Linkage analysis (indirect detection of mutatnt gene) RFLPs restriction fragment length polymorphisms
useful for prenatal diagnosis of |
|
Definition
| Cystic Fibrosis, Huntington Disease |
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|
