Endokrinologie und Stoffwechsel
Aarskog Syndrom, Faciogenitale Dysplasie 1
(FGD1-Gen, MIM #305400)
Acyl-CoA Dehydrogenase, long chain Defizienz
(ACADL-Gen, MIM *609676)
Acyl-CoA Dehydrogenase, very long chain Defizienz
(ACADVL-Gen, MIM *609575)
Alagille Syndrom
(Jagged-1 Gene, JAG, AGS MIM +601920; NOTCH2-Gen, MIMM *600275)
Albright-Syndrom
(Guanin-Nucleotide-Binding-Proteine, GNAS-Gen, MIM +139320)
Aldolase B Defizienz
(Fruktose Intoleranz, ALDOB-Gen, MIM +229600)
Angiotensin Converting Enzyme
(ACE-Gen, I/D-Polymorphismus, MIM +106180)
Apolipoporotein AI/CIII
(Apolipoprotein-Cluster Chrosome 11, ApoA1/CIII-Gene, MIM *107680 und MIM *107720)
Apolipoprotein AIV
(ApoA4-Gen, MIM *107690)
Apolipoprotein AV
(ApoA5-Gen, MIM *606368)
Apolipoprotein B
(ApoB 100-Gen, Arg3500Gln, MIM +107730)
Apolipoprotein E
(ApoE, E2/E3/E4-Isoforms, MIM +107741)
ATP-Bindungs Cassette Transporter A 1
(ABCA1-Gen, MIM +600046)
Azoospermie
(AZF, MIM #415000; USP9Y-Gen, MIM *400005)
Carnitin Defizienz
(primary systemic, Solute Carrier Family 22 member 5, SLC22A5-Gen, MIM *603377)
Catechol-O-Methyltransferase
(Catechol- und Östrogenkatabolism, COMT-Gen, MIM +116790)
Cholesterolester Transferprotein
(Lipid-Transfer-Protein, CETP-Gen, MIM *118470)
11-β-Cortisol-Ketoreduktase-Defizienz
(11-β-Hydroxysteroid-Dehydrogenase, HSD11-Gen, MIM +218030)
Cystische Fibrose, CBAVD
(CFTR1-Gen, MIM *602421)
Cytochrom P450 Oxidoreductase
(POR, MIM *124015)
Diabetes insipidus
(Neurohypophyseal Type, Arginine Vasopressin, AVP-Gen, MIM *192340)
Ehlers-Danlos-Syndrome Typ VIIa
(Collagen-1A1-Gen, COL1A1, MIM *120150)
Familiäre Hypercholesterinämie
(LDL-Rezeptor-Gen, LDLR, MIM *606945)
Familiäre hypokalziurische Hyper- and Hypokalzämie
(Calcium-Sensing- Receptor-Gen, CASR, MIM +601199)
Familiäre Schilddrüsenhormone Resistenz
(Thyroid Hormone-β-Receptor, THRB-Gen, MIM *190160)
Familiärer Hyperaldosteronismus
(Glucocorticoid suppressable, Chimeric CYP11B1/CYP11B2, GRA, MIM #103900)
Familiäres Mittelmeerfieber
(Recurrent Polyserositis, FMF, MEVF-Gen *608107)
Follikel-stimulierendes-Hormon FSH-Receptor
(FSH-Receptor, FSHR-Gen, MIM *136435)
Galactosidase alpha Defizienz, Morbus Fabry
(alpha Galactosidase, GLA-Gen, MIM *300644)
Gaucher Syndrom, Typ I, II and III
(acid-beta glucosidase GBA-Gen, MIM *606463)
Glutarazidämie I
(Glutaryl-CoA dehydrogenase, GCDH-Gen, MIM *608801)
Glykogen Speicher-Krankheit II
(Morbus Pompe, saure alpha-1,4-Glucosidase, GAA-Gen, MIM *606800)
Hämochromatose
(HFE-Gen, MIM +235200)
High Density Bone Mass
(HBM, LDL-Receptor Related Protein 5, LPR5, MIM *603506)
HPT-Jaw Tumor Syndrome
(Parafibromin-Gen, HRTP2-Gen, MIM 145001)
Hyperbilirubinämie, Gilbert Syndrome
(UGT1A1-Gen, MIM *191740)
Hypercholesterinämie, autosomal dominant
(LDL-Rezeptor-Gen, MIM*606945, ApoB, MIM *107730, PCSK9-Gen +607786
Hyperlipoproteinämie Typ 1
(Lipoproteinlipase-Gen, LPL-Gen, MIM *609708)
Hypophosphatämie, Hereditär Typ 1 und 2
(Vitamine-D-resistente Rachitis, X-chromosomal, Hyp1 und Hyp2, PHEX-Gen, MIM *300550)
Hypophosphatasie
(Alkalische Phosphatase -Leber/Niere/Knochen, ALPL-Gen, MIM *171760)
Isoveleriansäure Azädimie
(Isovaleryl CoA dehydrogenase Gen, IVD-Gen, MIM *607036)
KLOTHO
(Susceptibility for CHD, Longevity, KL-Gen, MIM +604824)
Laktose Intoleranz
(Hypolaktasie, Latase, LCT-Gen, MIM *603202)
Matrix Metalloproteinase 3
(Human Fibroblast Stromelysin, MMP3-Gen, MIM *185250)
McCune-Albright Syndrom
(Guanin-Nucleotide-Bindingprotein, GNAS-Gen, MIM +139320)
Methymalonic Aciduria, cblB TYPE
(MMAB-Gen, MIM *607568 )
Methymalonsäure Acidurie
(Methymalonyl-CoA Mutase, MUT-Gen, MIM *609058)
Methymalonsäure Acidurie, cblA Typ
(MMAA-Gen, MIM *607481)
Multiple Acyl-CoA Dehydrogenase Defizienz
(Glutarsäure Acidurie 2; ETFA-Gene, MIM *608503; ETFB-Gen, MIM *130410, ETFDH-Gene, MIM *231675)
Multiple Exostosen Typ 1
(Multiple Osteochondromatosis Type 1,Exostosin 1, EXT1, MIM *608177)
Multiple Exostosen Typ 2
(Exostosin 2-Gen, EXT2, MIM #133701)
Niemann-Pick Krankheit Typ A
(Sphingomyelin phosphodiesterase-1-Gen (SMPD1, MIM *607608)
Niemann-Pick Krankheit Typ C1
(NPC1-Gen, MIM *607623)
Nitroxid Synthase Typ 3
(endothelial, eNOS-Gen, MIM +163729)
Osteochondrodysplasia, X-chromosomal
(Spondyloepiphysal Dysplasia tarda, SEDL, TRAPPC2-Gen, MIM *300202)
Osteogenesis Imperfecta Typ I und Typ IIa
(COL1A1-Gen, MIM *120150, Col1A2-Gen, MIM *120160)
Osteogenesis Imperfecta Typ IIb und Typ VII
(CRTAP-Gen, MIM *605497)
Osteoporosis Pseudoglioma Syndrom
(OPP, LDL-Receptor Related Protein 5, LPR5, MIM *603506)
Östrogen-α-Rezeptor
(Estrogen Receptor α-Gen, ESRA, MIM +133430)
Östrogen-β-Rezeptor
(Estrogen Receptor β-Gen, ESRB, MIM *601663)
Paraoxonase
(PON1-Gen, MIM +168820)
Pendred-Syndrom
(Hörstörung und Struma, Solute carrier Family 26 Member 4-Gen, SLC26A4, MIM *605646)
Peroxisome Proliferator activated Receptor α
(PPARA-Gen, MIM +170998)
Peroxisome Proliferator activated Receptor γ
(PPARG-Gen, MIM *601487)
Polyglanduläre endokrine Insufficienz Typ I
(Autoimmune-Regulator-Gen, AIRE, MIM *607358)
Polymerase-Gamma
(POLG1-Gen, MIM *174763)
Propionacädemie
(Propionyl-CoA Carboxylase Gen, PCCA-Gen, MIM *232000; PCCB-Gen, MIM *232050)
Pseudoaldosteronismus, Liddle Syndrom
(SCNN1B-Gene MIM *600760; SCNN1G-Gene MIM *600761)
Pseudohypoparathyreoidismus, Typ IA; PHP1A
(GNAS-Gen, MIM +139320)
Pseudo-Vitamin-D-resistente Rachitis
(25-Hydroxy-Vitamine-D-α-Hydroxylase-Defizienz, CYP27B1-Gen, MIM *609506)
Ribonuklease L
(RNAsel-Gen, MIM *180435)
Sichelzellanämie
(Steroid-11-β-Hydroxylase- Defizienz (CYP11B1-Gen, MIM 610613)
Steroid-17-α-Hydroxylase-Defizienz
(Cyp17-Gen, MIM *609300)
Steroid-21-Hydroxylase-Defizienz
(CYP21A2-Gen, MIM +201910)
Steroid-3-β-Dehydrogenase-Defizienz
(3HSD-Gen, +MIM 201810)
Steroid-5α-Reduktase2
(Männlicher Pseudohermaphroditismus, SRDA2-Gen, *607306)
Testikuläre Feminisierung, Androgen Resistenz
(Androgen Rezeptor Gen, AR, MIM *313700)
β-Thalassämie
(Hemoglobin-ß-Locus, HBB-Gen, MIM +141900)
TSH-Resistenz
(Thyrotropin Rezeptor- Gen, TSHR, MIM +603372)
Tyrosinämie, Typ I
(Fumarylacetoacetate Hydrolase, FAH-Gen, MIM +276700)
Variegata Porphyria
(Protoporphyrinogen Oxidase, PPOX-Gen, MIM *600923)
Vitamin-D-Resistenz
(Vitamin-D-Rezeptor, VDR-Gen, MIM *601769)
Wolfram-Syndrom
(Wolframin-Gene, WFS1, MIM *606201)