Disease Browser
Parent Node: 46, XX Disorders of Sex Development (D058489) Parent Node: Gynecomastia (D006177) Parent Node: Infertility, Male (D007248) Parent Node: Metabolism, Inborn Errors (D008661) ..Starting node .. Aromatase deficiency (C537436) Child Nodes:
Sister Nodes: ..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784) ..3-Hydroxyacyl-CoA Dehydrogenase Deficiency (C535310) ..3-Methylglutaconic Aciduria (C579867) ..3-Methylglutaconic Aciduria Type IV (C565393) ..3-Methylglutaconic Aciduria, Type I (C562801) ..3-Methylglutaconic Aciduria, Type V (C565706) ..5-Nucleotidase syndrome (C535321) ..6-Phosphogluconolactonase Deficiency (C566803) ..Acetylcarnitine deficiency (C536006) ..Acholinesterasemia (C566750) ..Acid Phosphatase Deficiency (C562645) ..Adenine phosphoribosyltransferase deficiency (C538228) ..AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (OMIM:608688) ..alpha-Fetoprotein Deficiency (C566300) ..Amino Acid Metabolism, Inborn Errors (D000592) 169 ..Amino Acid Transport Disorders, Inborn (D020157) 3 ..Amobarbital, Deficient N-Hydroxylation of (C565959) ..Amyloidosis, Familial (D028226) 13 ..Arene Oxide Detoxification Defect (C565043) ..Aromatase deficiency (C537436) ..Aryl Hydrocarbon Hydroxylase Inducibility (C566250) ..BISPHOSPHOGLYCERATE MUTASE DEFICIENCY (OMIM:222800) ..Brain Diseases, Metabolic, Inborn (D020739) 218 ..Butyrylcholinesterase deficiency (C537417) ..Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type (C566751) ..Carbohydrate Metabolism, Inborn Errors (D002239) 169 ..Carnitine Acetyltransferase Deficiency (C563249) ..Carnitine palmitoyl transferase 2 deficiency (C535589) ..Chromate Resistance (C566125) ..COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426) ..Combined Malonic and Methylmalonic Aciduria (C580002) ..Combined Oxidative Phosphorylation Deficiency 1 (C563797) ..Combined Oxidative Phosphorylation Deficiency 4 (C565690) ..Combined Oxidative Phosphorylation Deficiency 5 (C567126) ..Congenital chloride diarrhea (C536210) ..Copper deficiency, familial benign (C535468) ..Costeff optic atrophy syndrome (C535311) ..Coumarin Resistance (C563039) ..Coumarin Sensitivity (C567276) ..CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320) ..Cytochrome-c Oxidase Deficiency (D030401) 2 ..Deafness hyperuricemia neurologic ataxia (C535995) ..Deoxyribose-5-Phosphate Aldolase Deficiency (C565112) ..Diarrhea 3, Secretory Sodium, Congenital (C562576) ..Diarrhea 3, Secretory Sodium, Congenital, Syndromic (C567490) ..Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099) ..Dihydropyrimidinase Deficiency (C562815) ..Diphenylhydantoin, Defect in Hydroxylation of (C565044) ..Drug Metabolism, Poor, CYP2C19-Related (C563703) ..Drug Metabolism, Poor, CYP2D6-Related (C563835) ..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657) ..Enterokinase Deficiency (C562649) ..Ethanolaminosis (C562651) ..Familial gynecomastia, due to increased aromatase activity (C000591739) ..Finnish lethal neonatal metabolic syndrome (C537934) ..Fumaric aciduria (C538191) ..Glucocorticoid Receptor Deficiency (C564221) ..Glutamate formiminotransferase deficiency (C537425) ..Glycoprotein Storage Disease (C565538) ..Glyoxalase II Deficiency (C564215) ..Growth Factors, Combined Defect of (C565529) ..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470) ..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700) ..Hyaluronan Metabolism, Defect in (C565742) ..Hyperbilirubinemia, Hereditary (D006933) 7 ..Hypercalcemia, Idiopathic, of Infancy (C562581) ..HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860) ..Hypoadiponectinemia (C567258) ..Hypokalemia, Familial (C562654) ..Hypoproteinemia, Hypercatabolic (C565476) ..Inosine Triphosphatase Deficiency (C564127) ..Intrinsic Factor and R Binder, Combined Congenital Deficiency of (C565461) ..Kallikrein, Decreased Urinary Activity of (C563653) ..L-Gulonolactone Oxidase, Nonfunctional (C565486) ..Lactate Dehydrogenase B Deficiency (C563641) ..Lactic Aciduria due to D-Lactic Acid (C565446) ..Leukotriene C4 Synthase Deficiency (C565439) ..Lipid Metabolism, Inborn Errors (D008052) 135 ..LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016) ..Lysosomal Storage Diseases (D016464) 106 ..Malonic aciduria (C535702) ..Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type (C563601) ..Mannose-Binding Protein Deficiency (C563602) ..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566) ..Metal Metabolism, Inborn Errors (D008664) 55 ..Methemoglobin Reductase Deficiency (C563171) ..Methylcobalamin Deficiency, CblG Type (C565394) ..Methylmalonyl-Coenzyme A mutase deficiency (C537573) ..Mitochondrial Complex II Deficiency (C565375) ..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624) ..Myeloperoxidase Deficiency (C562864) ..N acetyltransferase deficiency (C536107) ..Pancreatic Insufficiency, Combined Exocrine (C564907) ..Peroxisomal Disorders (D018901) 39 ..Phenacetin O-Deethylase, Deficiency of (C565127) ..Phenol sulfotransferase deficiency (C537895) ..Phosphoglycerate Kinase 1 Deficiency (C567067) ..Porphyrias (D011164) 18 ..Progeria (D011371) 11 ..Proguanil, Poor Metabolism of (C563704) ..Purine-Pyrimidine Metabolism, Inborn Errors (D011686) 24 ..Renal Tubular Transport, Inborn Errors (D015499) 76 ..Retinol-Binding Protein Deficiency (C566711) ..Steroid Metabolism, Inborn Errors (D043202) 34 ..Stomatocytosis I (C566111) ..Stomatocytosis II (C566110) ..Succinic Acidemia (C563952) ..THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120) ..Transcobalamin I Deficiency (C562798) ..Trimethylaminuria (C536561) ..Warfarin Sensitivity (C567080) ..Weinstein Kliman Scully syndrome (C536688) ..Wiedemann Oldigs Oppermann syndrome (C536705) ..Xanthinuria, Type I (C562584) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 856
Name: Aromatase deficiency
Definition:
Alternative IDs: OMIM:139300|OMIM:613546
ParentIDs: MESH:D006177|MESH:D007248|MESH:D008661|MESH:D058489
TreeNumbers: C12.294.365.700/C537436 |C12.706.316.064/C537436 |C13.351.875.253.064/C537436 |C16.131.939.316.064/C537436 |C16.320.565/C537436 |C17.800.090.875/C537436 |C18.452.648/C537436 |C19.391.119.064/C537436 |F03.800.399.500/C537436
Synonyms: AEXS |AROMATASE ACTIVITY, INCREASED GYNECOMASTIA, FAMILIAL, DUE TO INCREASED AROMATASE ACTIVITY, INCLUDED |AROMATASE EXCESS SYNDROME |GYNECOMASTIA, HEREDITARY, INCLUDED |Pseudohermaphroditism, female, due to placental aromatase deficiency
Slim Mappings: Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Mental disorder|Metabolic disease|Skin disease|Urogenital disease (female)|Urogenital disease (male)
Reference:
MedGen: C537436
MeSH: C537436
OMIM: 139300 ; Genes: CYP19A1 ; Phenotypes Disease Causing ClinVar Variants Variation_Name GeneID GeneSymbol ClinicalSignificance dbSNP RCVaccession TestedInGTR PhenotypeIDs Chromosome Start Stop HGVS_c HGVS_p HGVS_g OtherIDs Disease_ClinVar Disease_hgmd NM_014754.2(PTDSS1):c.794T>C (p.Leu265Pro) 9791 PTDSS1 Pathogenic 587777090 RCV000083282 ; N MedGen:C0432269,OMIM:151050,SNOMED CT:1393001 8 97316309 97316309 NM_014754.2:c.794T>C NP_055569.1:p.Leu265Pro 8:g.97316309T>C OMIM Allelic Variant:612792.0003 C1841762 139300 Familial gynecomastia, due to increased aromatase activity; C0432269 151050 Lenz-Majewski hyperostosis syndrome NM_014754.2(PTDSS1):c.805C>T (p.Pro269Ser) 9791 PTDSS1 Pathogenic 587777089 RCV000083281 ; N MedGen:C0432269,OMIM:151050,SNOMED CT:1393001 8 97316320 97316320 NM_014754.2:c.805C>T NP_055569.1:p.Pro269Ser 8:g.97316320C>T OMIM Allelic Variant:612792.0002 C1841762 139300 Familial gynecomastia, due to increased aromatase activity; C0432269 151050 Lenz-Majewski hyperostosis syndrome NM_014754.2(PTDSS1):c.1058A>G (p.Gln353Arg) 9791 PTDSS1 Pathogenic 587777088 RCV000083280 ; N MedGen:C0432269,OMIM:151050,SNOMED CT:1393001 8 97321835 97321835 NM_014754.2:c.1058A>G NP_055569.1:p.Gln353Arg 8:g.97321835A>G OMIM Allelic Variant:612792.0001 C1841762 139300 Familial gynecomastia, due to increased aromatase activity; C0432269 151050 Lenz-Majewski hyperostosis syndrome