The genetic basis of heart disease
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The following is a list of genetic disorders and their origins. Besides, most disorders are a code that indicates the type of fertilization and the chromosome involved.
- P - Point mutation, or any insertion/deletion entirely inside one gene
- D - Deletion of a gene or genes
- C - Whole chromosome extra, missing, or both - see chromosomal aberrations
- T - Trinucleotide repeat disorders - gene is extended in length
Common disorders
| Disorder | Mutation | Chromosome |
|---|---|---|
| 22q11.2 deletion syndrome | D | 22q |
| Angelman syndrome | DCP | 15 |
| Canavan disease | 17p | |
| Celiac disease | ||
| Charcot-Marie-Tooth disease | ||
| Color blindness | P | X |
| Cri du Chat | D | 5 |
| Cystic fibrosis | P | 7q |
| Down syndrome | C | 21 |
| Duchenne muscular dystrophy | D | Xp |
| Hemophilia | P | X |
| Klinefelter syndrome | C | X |
| Neurofibromatosis | 17q/22q/? | |
| Phenylketonuria | P | 12q |
| Prader-Willi syndrome | DC | 15 |
| Sickle-cell disease | P | 11p |
| Spina bifida | P | 1 |
| Tay-Sachs disease | P | 15 |
| Turner syndrome | C | X |
0–9
| Disorder | Mutation | Chromosome |
|---|---|---|
| 18p deletion syndrome | D | 18p |
| 21-hydroxylase deficiency | 6p21.3 | |
| 45,X see Turner syndrome | C | X |
| 47,XX,+21 see Down syndrome | C | 21 |
| 47,XXX see triple X syndrome | C | X |
| 47,XXY see Klinefelter syndrome | C | X |
| 47,XY,+21 see Down syndrome | C | 21 |
| 47,XYY syndrome | C | Y |
| 5-ALA dehydratase-deficient porphyria see ALA dehydratase deficiency | ||
| 5-aminolaevulinic dehydratase deficiency porphyria see ALA dehydratase deficiency | ||
| 5p deletion syndrome see Cri du chat | D | 5p |
| 5p- syndrome see Cri du chat | D | 5p |
A
B
C
D
E
| Disorder | Mutation | Chromosome |
|---|---|---|
| Early-Onset familial alzheimer disease (EOFAD) see Alzheimer disease#type 1 see Alzheimer disease#type 3 see Alzheimer disease#type 4 | ||
| EDS see Ehlers-Danlos syndrome | ||
| Ehlers-Danlos syndrome | ||
| Ekman-Lobstein disease see osteogenesis imperfecta | ||
| Entrapment neuropathy see hereditary neuropathy with liability to pressure palsies | ||
| Epiloia see tuberous sclerosis | ||
| EPP see erythropoietic protoporphyria | ||
| Erythroblastic anemia see beta thalassemia | ||
| Erythrohepatic protoporphyria see erythropoietic protoporphyria | ||
| Erythroid 5-aminolevulinate synthetase deficiency see X-linked sideroblastic anemia | ||
| Erythropoietic porphyria see congenital erythropoietic porphyria | ||
| erythropoietic protoporphyria | ||
| Erythropoietic uroporphyria see congenital erythropoietic porphyria | ||
| Eye cancer see retinoblastoma FA - Friedreich ataxia see Friedreich ataxia |
F
G
| Disorder | Mutation | Chromosome |
|---|---|---|
| G6PD deficiency | ||
| Galactokinase deficiency disease see galactosemia | ||
| Galactose-1-phosphate uridyl-transferase deficiency disease see galactosemia | ||
| galactosemia | ||
| Galactosylceramidase deficiency disease see Krabbe disease | ||
| Galactosylceramide lipidosis see Krabbe disease | ||
| galactosylcerebrosidase deficiency see Krabbe disease | ||
| galactosylsphingosine lipidosis see Krabbe disease | ||
| GALC deficiency see Krabbe disease | ||
| GALT deficiency see galactosemia | ||
| Gaucher disease | ||
| Gaucher-like disease see pseudo-Gaucher disease | ||
| GBA deficiency see Gaucher disease type 1 | ||
| GD see Gaucher's disease | ||
| Genetic brain disorders | ||
| genetic emphysema see alpha-1 antitrypsin deficiency | ||
| genetic hemochromatosis see hemochromatosis | ||
| Giant cell hepatitis, neonatal see Neonatal hemochromatosis | ||
| GLA deficiency see Fabry disease | ||
| Glioblastoma, retinal see retinoblastoma | ||
| Glioma, retinal see retinoblastoma | ||
| globoid cell leukodystrophy (GCL, GLD) see Krabbe disease | ||
| globoid cell leukoencephalopathy see Krabbe disease | ||
| Glucocerebrosidase deficiency see Gaucher disease | ||
| Glucocerebrosidosis see Gaucher disease | ||
| Glucosyl cerebroside lipidosis see Gaucher disease | ||
| Glucosylceramidase deficiency see Gaucher disease | ||
| Glucosylceramide beta-glucosidase deficiency see Gaucher disease | ||
| Glucosylceramide lipidosis see Gaucher disease | ||
| Glyceric aciduria see hyperoxaluria, primary | ||
| Glycine encephalopathy see Nonketotic hyperglycinemia | ||
| Glycolic aciduria see hyperoxaluria, primary | ||
| GM2 gangliosidosis, type 1 see Tay-Sachs disease | ||
| Goiter-deafness syndrome see Pendred syndrome | ||
| Graefe-Usher syndrome see Usher syndrome | ||
| Gronblad-Strandberg syndrome see pseudoxanthoma elasticum | ||
| Guenther porphyria see congenital erythropoietic porphyria | ||
| Gunther disease see congenital erythropoietic porphyria |
| Disorder | Mutation | Chromosome |
|---|---|---|
| Haemochromatosis see hemochromatosis | ||
| Hallgren syndrome see Usher syndrome | ||
| Hb S disease see sickle cell anemia | ||
| HCH see hypochondroplasia | ||
| HCP see hereditary coproporphyria | ||
| Head and brain malformations | ||
| Hearing disorders and deafness | ||
| Hearing problems in children | ||
| HEF2A see hemochromatosis#type 2 | ||
| HEF2B see hemochromatosis#type 2 | ||
| Hematoporphyria see porphyria | ||
| Heme synthetase deficiency see erythropoietic protoporphyria | ||
| Hemochromatoses see hemochromatosis | ||
| hemochromatosis | ||
| hemoglobin M disease see methemoglobinemia#beta-globin type | ||
| Hemoglobin S disease see sickle cell anemia | ||
| hemophilia | ||
| HEP see hepatoerythropoietic porphyria | ||
| hepatic AGT deficiency see hyperoxaluria, primary | ||
| hepatoerythropoietic porphyria | ||
| Hepatolenticular degeneration syndrome see Wilson disease | ||
| Hereditary arthro-ophthalmopathy see Stickler syndrome | ||
| Hereditary coproporphyria | ||
| Hereditary dystopic lipidosis see Fabry disease | ||
| Hereditary hemochromatosis (HHC) see hemochromatosis | ||
| Hereditary iron-loading anemia see X-linked sideroblastic anemia | ||
| Hereditary motor and sensory neuropathy see Charcot-Marie-Tooth disease | ||
| Hereditary motor neuronopathy see spinal muscular atrophy | ||
| Hereditary motor neuronopathy, type V see distal spinal muscular atrophy, type V | ||
| Hereditary Multiple Exostoses | ||
| Hereditary nonpolyposis colorectal cancer | DNA mismatch repair dysfunction usually in MSH2 and MLH1 genes | usually chromosomes 2 and 3 |
| Hereditary periodic fever syndrome see Mediterranean fever, familial | ||
| Hereditary Polyposis Coli see familial adenomatous polyposis | ||
| Hereditary pulmonary emphysema see alpha-1 antitrypsin deficiency | ||
| Hereditary resistance to activated protein C see factor V Leiden thrombophilia | ||
| Hereditary sensory and autonomic neuropathy type III see familial dysautonomia | ||
| Hereditary spastic paraplegia see infantile-onset ascending hereditary spastic paralysis | ||
| Hereditary spinal ataxia see Friedreich ataxia | ||
| Hereditary spinal sclerosis see Friedreich ataxia | ||
| Herrick's anemia see sickle cell anemia | ||
| Heterozygous OSMED see Weissenbacher-Zweymüller syndrome | ||
| Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweymüller syndrome | ||
| HexA deficiency see Tay-Sachs disease | ||
| Hexosaminidase A deficiency see Tay-Sachs disease | ||
| Hexosaminidase alpha-subunit deficiency (variant B) see Tay-Sachs disease | ||
| HFE-associated hemochromatosis see hemochromatosis | ||
| HGPS see Hutchinson-Gilford progeria syndrome | ||
| Hippel-Lindau disease see von Hippel-Lindau disease | ||
| HLAH see hemochromatosis | ||
| HMN V see distal spinal muscular atrophy, type V | ||
| HMSN see Charcot-Marie-Tooth disease | ||
| HNPCC see hereditary nonpolyposis colorectal cancer | ||
| HNPP see hereditary neuropathy with liability to pressure palsies | ||
| homocystinuria | ||
| Homogentisic acid oxidase deficiency see alkaptonuria | ||
| Homogentisic acidura see alkaptonuria | ||
| Homozygous porphyria cutanea tarda see hepatoerythropoietic porphyria | ||
| HP1 see hyperoxaluria, primary | ||
| HP2 see hyperoxaluria, primary | ||
| HPA see hyperphenylalaninemia | ||
| HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome | ||
| HSAN type III see familial dysautonomia | ||
| HSAN3 see familial dysautonomia | ||
| HSN-III see familial dysautonomia | ||
| Human dermatosparaxis see Ehlers-Danlos syndrome#dermatosparaxis type | ||