AR deficiency of the enzyme alpha-l-iduronidase

AR Deficiency of the enzyme alpha-l-iduronidase

Ar Hemoglobin abnormality (Hemoglobin S presence)

Ar abnormal production of hemoglobin A

Genetic Disorders Flashcards by frank mccormick

Connective Tissue Genetic Disorders Table

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Marfan’s Syndrome

Connective Tissue

fibrillin abnormalities

(some type I collagen)

FBN1 or TGF-BR2

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Ehlers-Danlos Syndrome

AD (most common)

Defects in type I and III collagen

COL3A1-type 3

COL1A2-type 7

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Homocystinuria

Deficiency of the enzyme cystathionine beta-synthase

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Muchopolysaccharidosis table:

All are AR, except Hunter (XR

alpha-L-iduronidase (Scheie and Hurler)

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Hunter Syndrome

X-linked Recessive

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Hurler’s syndrome

deficiency of the enzyme alpha-l-iduronidase

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Maroteaux-lamy syndrome

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Morquio Syndrome

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San Filippo Syndrome

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Scheie Syndrome

Deficiency of the enzyme alpha-l-iduronidase

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Muscular Dystrophies Table

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Duchenne Muscular Dystrophy

defect on the short arm of chromosome x

Dystrophin Gene

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Becker Dystrophy

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Fascioscapulohumeral dystrophy

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Limb-girdle dystrophy

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Steinert Disease

(myotonic dystrophy)

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Hematologic Disorders with Genetic components Table

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Hemophilia

Hemophila A: Factor 8 deficiency

Hemophila B: Factor 9 deficiency

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Sickle Cell Anemia

Hemoglobin abnormality

(Hemoglobin S presence)

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Gaucher’s Disease

deficient activity of the enzyme B-glucosidase

(glucocerebrosidase)

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Hemochormatosis

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Niemann-Pick Disease

accumulation of sphingomyelin in cellular lysosomes

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Thallassemia

abnormal production of hemoglobin A

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Von Willebrands Disease

Chromosomal disorders with MSK abnormalities

Down Syndrome

Trisomy 21

Angelman Syndrome

Chromosome 15 abnormality

Edward Syndrome

trisomy of chromosome 18

Fragile X syndrome

x-linked trait Xq27-28

Klinefelter Syndrome

XXY an extra x chromosome in men/boys

Langer-Geidion Syndrome

Sporadic mutation Chromosome 8 abnormality

Nail Patella Syndrome

AD LMX1B

Patau Syndrome

trisomy of chromosome 13

Turner Syndrome (XO)

one of the two chromosomes missing in affected girls and women SHOX

Neurologic Disorders with genetic components

Charcot-Marie-Tooth Disease

AD chromosome 17 defect for encoding peripheral myelin protein-22 PMP-22

Congential insensitivity to pain

Freidrich Ataxia

Huntington disease

Menkes Syndrome

Xr inability to absorb and use copper

Pelizaeus-Merzbacher disease

Xr defect in the gene for proteolipid

Spinal Muscular Atrophy

Sturge-Weber Syndrome

Sporadic mutation

Tay-Sachs disease

Ar deficiency in the enzyme hex-osaminindase A

Diseases associated with Neoplasias table:

Ewing's Sarcoma

11;22 translocation EWS/Fl11 fusion gene

Multipel Endocrine Neoplasia MEN

Type 1- AD- RET gene Type 2-AD Type 3-AD- Chromosome 10 abnormality

Neurofibromatosis type 1 and 2

AD NF1-chromosome 17 defect-codes for neurofibromin NF2: chromosome 22 defect **NF1** **NF2**

Synovial Sarcoma

(x;18) (p11;q1`1) **STT/SSX fusion gene**

Multiple Exostosis

AD EXT1 (greater burden of disease with increased risk of malignant transformation) EXT2/EXT3

Malignant Hyperthermia

Osteochondromatosis

Postaxial polydactyly

AD GLI3

Camptodactyly

Metabolic Bone Diseases

Hereditary Vitamin D dependent Rickets

Hypophosphatasia

Ar PHEX gene

Hypophosphatemic Rickets Vitamin D resistant Rickets

**XD** **PHEX**

Osteogeneis Imperfecta

AD Defect in type 1 collagen COL 1A1, COL1A2

Albright Hereditary osteodystrophy | (pseudohypoparathyroidism)

PTH has no effect at the target cells (kidney, bones and intestine

Onchronosis | (Alkaptonuria)

Ar defect in the homogentisic acid oxidase system

Osteopetrosis

AD-mild tarda form AR-infantile, Malignant CLCN7, TC1RG1

Dysplasia Genetic Conditions Table

Achondroplasia

AD defect in fibroblast growth factor receptor 3 FGF3R

Diastrophic Dysplasia

Ar mutation of a gene coding for a sulfate transport protein DTDST

Kneist Dysplasia

AD Defect in type II Collagen COL 2A1

Laron Dysplasia | (pituitary Dwarfism)

Ar defect in the growth hormone receptor

McCune Albright Syndrome Fibrous dysplasia Cafe-Au lait spots Precocious puberty

Germline defect in the GSA protein Mutation of the GSA subunit of the receptor/adenylyl cyclase coupling G proteins

Metaphyseal Chondrodysplasia Jansen Form

AD PTH, PTH related protein

Metaphyseal Chondrodysplasia Mckusick form

Ar ## Footnote **RMRP**

Metaphyseal Chondrodysplasia Schmid-Tarda form

AD Defect in type 10 cartilage **COL 10A1**

Multiple Epiphyseal dysplasia MED

AD ## Footnote **Cartilage oligomeric protein** **COMP**

Spondyloepiphseal Dysplasia

AD Defect in type II collagen linked to Xp22, 12-p22.31 SEDL, COL2A1

Apert Syndrome

FGF2R

Cleidocranial Dysplasia

AD mutation of a gene coding for a protein related to osteoblast function CBFA1