Medical Genetics Ι Endocrinology and metabolism

Endocrinology and metabolism

Aarskog Syndrome, Faciogenital Dysplasia 1
FGD1-Gene, MIM #305400

Acyl-CoA Dehydrogenase, long chain Deficiency
ACADL-Gene, MIM *609676

Acyl-CoA Dehydrogenase, very long chain Deficiency
ACADVL-Gene, MIM *609575

Alagille Syndrome
Jagged-1 Gene, JAG, AGS MIM +601920; NOTCH2-Gene, MIMM *600275

Albright-Syndrome
Guanine-Nucleotide-Binding-Protein, GNAS-Gene, MIM +139320

Aldolase B Deficiency
Fructose Intolerance, ALDOB-Gene, MIM +229600

Angiotensin Converting Enzyme
ACE-Gene, I/D-Polymorphism, MIM +106180

Apolipoporotein AI/CIII
Apolipoprotein-Cluster Chrosome 11, ApoA1/CIII-Gene, MIM *107680 and MIM *107720

Apolipoprotein AIV
ApoA4-Gene, MIM *107690

Apolipoprotein AV
ApoA5-Gene, MIM *606368

Apolipoprotein B
ApoB 100-Gene, Arg3500Gln, MIM +107730

Apolipoprotein E
ApoE, E2/E3/E4-Isoforms, MIM +107741

ATP-Binding Cassette Transporter A 1
ABCA1-Gene, MIM +600046

Azoospermia
AZF, MIM #415000; USP9Y-Gene, MIM *400005

Carnitin Deficiency
Primary systemic, Solute Carrier Family 22 member 5, SLC22A5-Gene, MIM *603377

Catechol-O-Methyltransferase
Catechol- and Estrogencatabolism, COMT-Gene, MIM +116790

Cholesterolester Transferprotein
Lipid-Transfer-Protein, CETP-Gene, MIM *118470

11-β-Cortisol-Ketoreductase-Deficiency
11-β-Hydroxysteroid-Dehydrogenase, HSD11-Gene, MIM +218030

Cystic Fibrosis, CBAVD
CFTR1-Gene, MIM *602421

Cytochrom P450 Oxidoreductase
POR.Gene, MIM *124015

Diabetes insipidus
Neurohypophyseal Type, Arginine Vasopressin, AVP-Gene, MIM *192340

Ehlers-Danlos-Syndrome Type VIIa
Collagen-1A1-Gene, COL1A1, MIM *120150

Familial Hypercholesterolemia
LDL-Receptor-Gene, LDLR, MIM *606945

Familial hypocalciuric hyper- and hypokalcemia
Calcium-Sensing- Receptor-Gene, CASR, MIM +601199

Familial Thyroid Hormone Resistance
Thyroid Hormone-β-Receptor, THRB-Gene, MIM *190160

Familial Hyperaldosteronism
Glucocorticoid suppressable, Chimeric CYP11B1/CYP11B2, GRA, MIM #103900

Familial Mediterranian Fever
Recurrent Polyserositis, FMF, MEVF-Gene *608107

Follicle-Stimulation Hormone Receptor FSH-Receptor
FSH-Receptor, FSHR-Gene, MIM *136435

Galactosidase alpha Deficiency, Morbus Fabry
alpha Galactosidase, GLA-Gene, MIM *300644

Gaucher Syndrome, TypeI, II and III
acid-beta Glucosidase, GBA-Gene, MIM *606463

Glutaracidemia I
Glutaryl-CoA dehydrogenase, GCDH-Gene, MIM *608801

Glykogen Storage Disease II
Morbus Pompe, acidic alpha-1,4-Glucosidase, GAA-Gene, MIM *606800

Hemochromatosis
HFE-Gene, MIM +235200

High Density Bone Mass
HBM, LDL-Receptor Related Protein 5, LPR5-Gene, MIM *603506

HPT-Jaw Tumor Syndrome
Parafibromin-Gene, HRTP2-Gene, MIM 145001

Hyperbilirubinemia, Gilbert Syndrome
UGT1A1-Gene, MIM *191740

Hypercholesterolemia, autosomal dominant
LDL-Rezeptor-Gene, MIM*606945, ApoB, MIM *107730, PCSK9-Gen +607786

Hyperlipoproteinemia Type 1
Lipoproteinlipase-Gene, LPL-Gene, MIM *609708

Hypophosphatemia, Hereditary Type 1 und 2
Vitamine-D-resistant Ricketts, X-chromosomal, PHEX-Gene, MIM *300550

Hypophosphatasia
Alkaline Phosphatase -Liver/Kidney/Bone Type, ALPL-Gene, MIM *171760

Isoveleric Acidemia
Isovaleryl CoA dehydrogenase Gene, IVD-Gene, MIM *607036

KLOTHO
Susceptibility for CHD, Longevity, KL-Gene, MIM +604824

Lactose Intolerance
Hypolactasia, Lactase, LCT-Gene, MIM *603202

Matrix Metalloproteinase 3
Human Fibroblast Stromelysin, MMP3-Gene, MIM *185250

McCune-Albright Syndrom
Guanine-Nucleotide-Bindingprotein, GNAS-Gene, MIM +139320

Methymalonic Aciduria, cblB TYPE
MMAB-Gene, MIM *607568

Methymalonic Aciduria
Methymalonyl-CoA Mutase, MUT-Gene, MIM *609058

Methymalonic Aciduria, cblA Type
MMAA-Gene, MIM *607481

Multiple Acyl-CoA Dehydrogenase Deficiency
Glutaric Aciduria 2; ETFA-Gene, MIM *608503; ETFB-Gene, MIM *130410, ETFDH-Gene, MIM *231675

Multiple Exostosis Type 1
Multiple Osteochondromatosis Type 1, Exostosin 1, EXT1-Gene, MIM *608177

Multiple Exostosis Type 2
Multiple Osteochondromatosis Type 2, Exostosin 2, EXT2-Gene, MIM #133701

Niemann-Pick Krankheit Type A
Sphingomyelin phosphodiesterase-1-Gen SMPD1, MIM *607608

Niemann-Pick Disease Type C1
NPC1-Gene, MIM *607623

Nitroxid Synthase Type 3
endothelial, eNOS-Gene, MIM +163729

Osteochondrodysplasia, X-chromosomal
Spondyloepiphysal Dysplasia tarda, SEDL, TRAPPC2-Gene, MIM *300202

Osteogenesis Imperfecta Type I und Type IIa
COL1A1-Gene, MIM *120150, Col1A2-Gene, MIM *120160

Osteogenesis Imperfecta TypeIIb und TypeVII
CRTAP-Gene, MIM *605497

Osteoporosis Pseudoglioma Syndrome
OPP, LDL-Receptor Related Protein 5, LPR5, MIM *603506

Estrogen Receptor 1
Estrogen Receptor 1 alpha, ESRA-Gene, MIM +133430

Estrogen Rezeptor 2
Estrogen Receptor 2 beta, ESR2-Gene, MIM *601663

Paraoxonase
PON1-Gene, MIM +168820

Pendred-Syndrome
Deafness and Goiter, Solute carrier Family 26 Member 4, SLC26A4-Gene, MIM *605646

Peroxisome Proliferator Activated Receptor α
PPARA-Gene, MIM +170998

Peroxisome Proliferator Activated Receptor γ
PPARG-Gene, MIM *601487

Polyglandulare endocrine Insufficiency Type I
Autoimmune-Regulator, AIRE-Gene, MIM *607358

Polymerase-Gamma
POLG1-Gene, MIM *174763

Propionic Acidemia
Propionyl-CoA Carboxylase, PCCA-Gene, MIM *232000; PCCB-Gene, MIM *232050

Pseudoaldosteronism, Liddle Syndrome
SCNN1B-Gene MIM *600760; SCNN1G-Gene MIM *600761

Pseudohypoparathyroidism, Type IA; PHP1A
GNAS-Gene, MIM +139320

Pseudo-Vitamin-D-resistant Ricketts
25-Hydroxy-Vitamine-D-α-Hydroxylase-Deficiency, CYP27B1-Gene, MIM *609506

Ribonuclease L
RNAsel-Gene, MIM *180435

Steroid-11-β-Hydroxylase- Deficiency
Congenital Adrenal Hyperplasia, CYP11B1-Gene, MIM 610613

Steroid-17-α-Hydroxylase-Deficiency
Congenital Adrenal Hyperplasia, CYP17-Gene, MIM *609300

Steroid-21-Hydroxylase-Defizienz
Congenital Adrenal Hyperplasia, CYP21A2-Gene, MIM +201910

Steroid-3-β-Dehydrogenase-Defizienz
Congenital Adrenal Hyperplasia, 3HSD-Gene, +MIM 201810

Steroid-5α-Reductase2
Male Pseudohermaphroditism, SRD5A2-Gene, *607306

Androgen Insensitivity Syndrome, Testicular Feminisation
Androgen Receptor, AR-Gene, MIM *313700

β-Thalassemie, Sickle Cell Anemia
Hemoglobin-ß-Locus, HBB-Gene, MIM +141900

TSH-Resistance
Thyrotropin Rezeptor, TSHR-Gene, MIM +603372

Tyrosinemia Type I
Fumarylacetoacetate Hydrolase, FAH-Gene, MIM +276700

Variegata Porphyria
Protoporphyrinogen Oxidase, PPOX-Gene, MIM *600923

Vitamin-D-Resistance
Vitamin-D-Receptor, VDR-Gene, MIM *601769

Wolfram-Syndrome
Wolframin, WFS1-Gene, MIM *606201