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| Endokrinologie und Stoffwechsel |
| Acyl-CoA Dehydrogenase,
long chain deficiency (ACADL, MIM 609676) |
| Acyl-CoA Dehydrogenase,
very long chain deficiency (ACADVL, MIM 609575) |
| Alagille Syndrom (JAG1-Gen, JAG, AGS MIM 118450) |
| Albright-Syndrom (Guanin-Nukleotid-Bindungsprotein, GNAS. MIM 139320) |
| Aldolase B Mangel (Fruktose Intoleranz, ALDOB, MIM 229600) |
| Alport-Syndrom X-linked (Col4A5-Gen, ATS , MIM 301050) |
| Angiotensin-konvertierendes
Enzym (ACE, I/D-Polymorphismus, MIM 106180) |
| Apolipoprotein AI/CIII (Apolipoprotein-Cluster Chromosom 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-Isoformen, MIM 107741) |
| ATP-Binding Cassette Transporter A 1 (ABCA1-Gen, MIM 600046) |
| Carnitin-Mangel (primär systemisch, Solute Carrier Family 22 member 5, SLC22A5, MIM 603377) |
| Catechol-O-Methyltransferase (Catechol- und Östrogenkatabolismus, COMT, MIM 116790) |
| Cholesterolester Transferprotein (Lipid-Transfer-Protein, CETP, MIM 118470) |
| 11-β-Cortisol-Ketoreduktase-Mangel (11-β-Hydroxysteroid-Dehydrogenase,HSD11, MIM 218030) |
| Diabetes insipidus (Neurohypophyseal Typ, Arginine Vasopressin-Gen, AVP, MIM 192340) |
| Ehlers-Danlos-Syndrom Typ VIIa (Collagen-1A1-Gen, COL1A1, MIM 120150) |
| Östrogen-α-Rezeptor (Östrogen Rezeptor α-Gen, ESRA, MIM 133430) |
| Östrogen-β-Rezeptor (Östrogen Rezeptor β-Gen, ESRB, MIM 601663) |
| Faziogenitale
Dysplasie 1 (Aarskog Syndrom, FGD1, MIM 305400) |
| Familiärer Hyperaldosteronismus (Glucocorticoid supprimierbar, Chimeric CYP11B1/CYP11B2, GRA, MIM202010) |
| Familiäre
Hypercholesterinämie (LDL-Rezeptor-Gen, MIM 606945; Neural-Apoptosis-Gen, NARC1-Gen, 607786) |
| Familiäre hypocalcurische
Hyper- und Hypocalcämie (Calcium-Sensing- Rezeptor-Gen, CASR, MIM 601199) |
| Familiäres Mittelmeerfieber (periodische Polyserositis, FMF, MIM 249100) |
| Familiäre
Schilddrüsenhormonresistenz (Schilddrüsenhormon-β-Rezeptor, THRB, MIM 190160) |
| Follikel-stimulierender
Hormonrezeptor (FSH-Rezeptor, FSHR, MIM 136435) |
| Gaucher Krankheit,
Typ I, II and III (saure β-Glukosidase Gendefekt GBA, MIM 606463) |
| Glutaric Acidemia
I (Glutaryl-CoA dehydrogenase, GDH, MIM 608801) |
| Glykogen-Speicher-Krankheit
II (Pompe disease, acid alpha-1,4-glucosidase, (GAA, MIM 600800) |
| Hämochromatose (HFE-Gen, MIM 235200) |
| High Density Bone Mass (HBM, LDL-Rezeptor Related Protein 5, LPR5, MIM 603506) |
| HPT-Jaw Tumor Syndrom (HRTP2, Parafibromin-Gen, MIM 145001) |
| Hyperbillirubinämie,
Gilbert-Syndrom (UGT1A1-Gen MIM 191740) |
| Hyperlipoproteinämie
Typ 1 (Lipoproteinlipase-Gen, LPL, MIM 238600) |
| Hereditäre Hypophosphatämie
Typ 1 und 2 (Vitamin-D-resistente Ricketts, X-chromosomal, Hyp1 und Hyp2, MIM 307800) |
| Hypophosphatasie (Alkalische Phosphatase –Leber/Niere/Knochen, ALPL, MIM171760) |
| Isovaleric Acidemia (Isovaleryl CoA dehydrogenase gene, IVD, MIM 607036) |
| KLOTHO (Suszeptibilität für CHD, Longevity, KL, MIM 604824)) |
| Laktoseintoleranz (Hypolaktasie, Lactase, LCT, MIM 603202) |
| Matrix Metalloproteinase 3 (Human Fibroblast Stromelysin, MMP3, MIM 185250) |
| McCune-Albright Syndrom (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) |
| Multipler Acyl-CoA
Dehydrogenase Mangel (glutaric aciduria 2; ETFA-gene, MIM 608503; ETFB-gene, MIM 130410, or ETFDH-gene, MIM 231675) |
| Multiple Exostosis
Typ 1 (Multiple Osteochondromatosis Typ 1, Exostosin 1, EXT1, MIM 133700) |
| Multiple Exostosis
Typ 2 (Exostosin 2, EXT2, MIM 133701) |
| Niemann-Pick
Krankheit, Typ A (Sphingomyelin phosphodiesterase-1 gene, SMPD1, MIM 607608) |
| Niemann-Pick
Krankheit, Typ C1 (NPC1-gene, MIM 607623) |
| Nitroxid Synthase Typ 3 (endothelial, eNOS, MIM163729) |
| Osteogensis
imperfecta Typ I und Typ III (Kollagen-1A1-Gen, COL1A1, MIM 120150) |
Osteoporose-Pseudogliom-Syndrom |
| Paraoxonase (PON1, MIM 168820) |
| Pendred-Syndrom (Schwerhörigkeit und Struma, Solute carrier Family 26 Member 4, SLC26A4, MIM 605646) |
| Peroxisomenproliferation
aktivierender Rezeptor α (PPARA, MIM 170998) |
| Peroxisomenproliferation
aktivierender Rezeptor γ (PPARG, MIM 601487) |
| Polyglanduläre
endokrine Insuffizienz Typ I (Autoimmunregulatorisches Gen, AIRE, MIM 240300) |
| Propionic acidemia (propionyl-CoA carboxylase, PCCA, MIM 232000, or PCCB, MIM 232050) |
| Pseudoaldosteronismus, Liddle Syndrom (SCNN1B-Gen MIM 600760; SCNN1G-Gen600761) |
| Pseudo-Vitamin
D-Resistenz Ricketts (25-Hydroxy-Vitamine-D-α-Hydroxylase-Mangel, CYP27B1, MIM 264700) |
| Spondyloepiphysal Dysplasia tarda (Osteochondrodysplasiie, X-chromosomal, SEDL, MIM 300202) |
| Steroid-5α-Reduktase
2 (Männlicher Pseudohermaphroditismus,SRD5A2, 607306) |
| Testikuläre
Feminisation, Androgenresistenz (Androgenrezeptor-Gen, AR, MIM 313700) |
| TSH-Resistenz (Thyrotropinrezeptor, TSHR, MIM 603372) |
| β-Thalassämie (Hämoglobin-β-Locus, MIM 141900) |
| Tyrosinaemia,
Typ I (Fumarylacetoacetate hydrolase, FAH, MIM 276700) |
| Vitamin-D-Resistenz (Vitamin-D-Rezeptor-Gen, VDR, MIM (601769) |
| Variegata Porphyria (Protoporphyrinogen Oxidase, PPOX, MIM 600923) |
| Wolfram-Syndrom (Wolframin-Gen, MIM 606201) |
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