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| Endocrinology and Metabolism |
| Acyl-CoA Dehydrogenase,
long chain deficiency (ACADL, MIM 609676) |
| Acyl-CoA Dehydrogenase,
very long chain deficiency (ACADVL, MIM 609575) |
| Alagille Syndrome (Jagged-1 Gene, JAG, AGS MIM 118450) |
| Albright-Syndrome (Guanin-Nucleotide-Binding-Gene, GNAS. MIM 139320) |
| Aldolase B Deficiency (Fructose Intolerance, ALDOB, MIM 229600) |
| Alport Syndrome,
X-linked (Col4A5-Gene, ATS , MIM 301050) |
| Angiotensin
Converting Enzyme (ACE, I/D-Polymorphism, MIM 106180) |
| Apolipoprotein
AI/CIII (Apolipoprotein-Cluster Chromosome 11, ApoA1/CIII, MIM 107680 and 107720) |
| Apolipoprotein
AIV (ApoA4, MIM 107690) |
| Apolipoprotein
AV (ApoA5, MIM 606368) |
| Apolipoprotein
B (ApoB 100, Arg3500Gln, MIM 107730) |
| Apolipoprotein
E (ApoE, E2/E3/E4-Isoforms, MIM 107741) |
| ATP-Binding
Cassette Transporter A 1 (ABCA1-Gen, MIM 600046) |
| Carnitine Deficiency (primary systemic, Solute Carrier Family 22 member 5, SLC22A5, MIM 603377) |
| Catechol-O-Methyltransferase (Catechol- und Estrogencatabolism, COMT, MIM 116790) |
| Cholesterolester
Transferprotein (Lipid-Transfer-Protein, CETP, MIM 118470) |
| 11-β-Cortisol-Ketoreductase-Deficiency (11-β-Hydroxysteroid-Dehydrogenase,HSD11, MIM 218030) |
| Diabetes insipidus (Neurohypophyseal Type, Arginine Vasopressin-Gene, AVP, MIM 192340) |
| Ehlers-Danlos-Syndrome
Typ VIIa (Collagen-1A1-Gen, COL1A1, MIM 120150) |
| Estrogen-α-Receptor (Estrogen Receptor α-Gene, ESRA, MIM 133430) |
| Estrogen-β-Receptor (Estrogen Receptor β-Gene, ESRB, MIM 601663) |
| Faciogenital
Dysplasia 1 (Aarskog Syndrome, FGD1, MIM 305400) |
| Familial Hyperaldosteronism (Glucocorticoid suppressable, Chimeric CYP11B1/CYP11B2, GRA, MIM202010) |
| Familial Hypercholesterinemia (LDL-Receptor-Gene, MIM 606945; Neural-Apoptosis-Gene, NARC1-Gen, 607786) |
| Familial hypocalciuric
Hyper- and Hypocalcemia (Calcium-Sensing- Receptor-Gene, CASR, MIM 601199) |
| Familial Mediterranian
Fever (Recurrent Polyserositis, FMF, MIM 249100) |
| Familial Thyroid
Hormone Resistance (Thyroid Hormone-β-Receptor, THRB, MIM 190160) |
| Follicle-Stimulating
Hormone Receptor (FSH-Receptor, FSHR, MIM 136435) |
| Gaucher Disease, Type I, II and III
(acid-beta glucosidase GBA, MIM 606463) |
| Glutaric Acidemia I (Glutaryl-CoA dehydrogenase, GDH, MIM 608801) |
| Glycogen Storage Disease II (Pompe disease, acid alpha-1,4-glucosidase, (GAA, MIM 600800) |
| Hemochromatosis (HFE-Gene, MIM 235200) |
| High Density
Bone Mass (HBM, LDL-Receptor Related Protein 5, LPR5, MIM 603506) |
| HPT-Jaw Tumor
Syndrome (HRTP2, Parafibromin-Gene, MIM 145001) |
| Hyperbilirubinemia,
Gilbert Syndrome (UGT1A1-Gene MIM 191740) |
| Hyperlipoproteinemia
Typ 1 (Lipoproteinlipase-Gene, LPL, MIM 238600) |
| Hypophosphatemia,
Hereditary Type 1 and 2 (Vitamine-D-resistant Ricketts, X-chromosomal, Hyp1 und Hyp2, MIM 307800) |
| Hypophosphatasia (Alcaline Phosphatase –Liver/Kidney/Bone, ALPL, MIM171760) |
| Isovaleric Acidemia (Isovaleryl CoA dehydrogenase gene, IVD, MIM 607036) |
| KLOTHO (Susceptibility for Coronary Heart Disease, Longevity, KL, MIM 604824)) |
| Lactose Intolerance (Hypolactasia, Lactase, LCT, MIM 603202) |
| Matrix Metalloproteinase
3 (Human Fibroblast Stromelysin, MMP3, MIM 185250) |
| McCune-Albright
Syndrome (Guanin-Nucleotide-Bindingprotein, GNAS, MIM 139320) |
| Methymalonic
Aciduria (Methymalonyl-CoA mutase, MUT, MIM 609058) |
| Methymalonic
Aciduria, cblA TYPE (MMAA-Gene, MMA, MIM 602481) |
| Methymalonic
Aciduria, cblB TYPE (MMAB-Gene, MMA, MIM 251110) |
| Multiple Acyl-CoA
Dehydrogenase Deficiency (glutaric aciduria 2; ETFA-gene, MIM 608503; ETFB-gene, MIM 130410, or ETFDH-gene, MIM 231675) |
| Multiple Exostosis
Type 1 (Multiple Osteochondromatosis Type 1, Exostosin 1, EXT1, MIM 133700) |
| Multiple Exostosis
Type 2 (Exostosin 2, EXT2, MIM 133701) |
| Niemann-Pick
Disease, Type A (Sphingomyelin phosphodiesterase-1 gene, SMPD1, MIM 607608) |
| Niemann-Pick
Disease, Type C1 (NPC1-gene, MIM 607623) |
| Nitroxid Syntase
Type 3 (endothelial, eNOS, MIM163729) |
| Osteogenesis
Imperfecta Type I und Type III (Collagen-1A1-Gene, COL1A1, MIM 120150) |
Osteoporosis
Pseudoglioma Syndrome |
| Paraoxonase (PON1, MIM 168820) |
| Pendred-Syndrome (Deafness and Goiter, Solute carrier Family 26 Member 4, SLC26A4 Gene, MIM 605646) |
| Peroxisome Proliferator
activated Receptor α (PPARA, MIM 170998) |
| Peroxisome Proliferator
activated Receptor gamma (PPARG, MIM 601487) |
| Polyglandular
endocrine Insufficiency Type I (Autoimmune-Regulator-Gene, AIRE, MIM 240300) |
| Propionic acidemia (propionyl-CoA carboxylase, PCCA, MIM 232000, or PCCB, MIM 232050) |
| Pseudoaldosteronismus,
Liddle Syndrome (SCNN1B-Gene MIM 600760; SCNN1G-Gene600761) |
| Pseudo-Vitamine-D-resistant
Ricketts (25-Hydroxy-Vitamine-D-α-Hydroxylase-Deficiency, CYP27B1, MIM 264700) |
| Spondyloepiphysal
Dysplasia tarda (Osteochondrodysplasia, X-chromosomal, SEDL, MIM 300202) |
| Steroid-5α-Reductase2 (Male Pseudohermaphroditism,SRDA2, 607306) |
| Testicular Feminisation,
Androgen Resistance (Androgen Receptor Gene, AR, MIM 313700) |
| TSH-Resistance (Thyrotropin receptor, TSHR, MIM 603372) |
| β-Thalassemia (Hemoglobin-β-Locus, MIM 141900) |
| Tyrosinemia,
Type I (Fumarylacetoacetate hydrolase, FAH, MIM 276700) |
| Vitamine-D-Resistance (Vitamine-D-Receptor-Gene, VDR, MIM (601769) |
| Variegata Porphyria (Protoporphyrinogen Oxidase, PPOX, MIM 600923) |
| Wolfram-Syndrome (Wolframin-Gene, MIM 606201) |
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