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Introduction Below are entries from a search of the Online Mendelian Inheritance in Man database. Clicking on the entry number will show the complete entry (see sample Heading List) and links to other databases (see Database List). top of page

Pituitary 219 entries found, searching for "pituitary" *173110 POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1 *602149 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PITX1 #262650 PITUITARY DWARFISM IV *601538 PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR; PROP1 *139250 GROWTH HORMONE 1; GH1 #145650 HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION *601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2 *262600 PITUITARY DWARFISM III *102981 ADENYLATE CYCLASE ACTIVATING POLYPEPTIDE 1, RECEPTOR FOR; ADCYAP1R1 *173120 SECRETORY GRANULE NEUROENDOCRINE PROTEIN 1; SGNE1 #275100 THYROTROPIN DEFICIENCY, ISOLATED *600264 ARGININE VASOPRESSIN RECEPTOR 1B; AVPR1B #173100 PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL DOMINANT 219090 CUSHING DISEASE, PITUITARY #262400 PITUITARY DWARFISM I *312000 PANHYPOPITUITARISM; PHP *604147 PITUITARY TUMOR-TRANSFORMING GENE 1; PTTG1 262700 PITUITARY DWARFISM WITH SMALL SELLA TURCICA #262500 PITUITARY DWARFISM II *102980 ADENYLATE CYCLASE ACTIVATING POLYPEPTIDE 1; ADCYAP1 #188570 THYROID HORMONE RESISTANCE 202150 ADRENAL HYPOPLASIA, CONGENITAL, WITH ABSENT PITUITARY LUTEINIZING HORMONE *604231 PITUITARY TUMOR-TRANSFORMING GENE 2; PTTG2 262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA *192321 VASOACTIVE INTESTINAL PEPTIDE RECEPTOR 1; VIPR1 *602669 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 3; PITX3 221750 DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM *139320 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE 1; GNAS1 *131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1 *190160 THYROID HORMONE RECEPTOR, BETA; THRB *102200 ACROMEGALY *192340 ARGININE VASOPRESSIN; AVP *600577 LIM HOMEO BOX PROTEIN 3; LHX3 *190120 THYROID HORMONE RECEPTOR, ALPHA-1; THRA *139191 GROWTH HORMONE-RELEASING HORMONE RECEPTOR; GHRHR *137035 GALANIN; GAL *139190 GROWTH HORMONE-RELEASING HORMONE; GHRH #174800 MCCUNE-ALBRIGHT SYNDROME; MAS *122561 CORTICOTROPIN-RELEASING HORMONE RECEPTOR 1; CRHR1 *601898 GROWTH HORMONE SECRETAGOGUE RECEPTOR; GHSR 602146 LIM HOMEO BOX PROTEIN 4 #182230 SEPTOOPTIC DYSPLASIA *601663 ESTROGEN RECEPTOR 2; ESR2 *308700 KALLMANN SYNDROME 1; KAL1 *139360 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE 2; GNAI2 *176960 PROTEIN KINASE C, ALPHA; PRKCA *160980 CARNEY COMPLEX; CNC *600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A 227200 EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPHIC *176830 PROOPIOMELANOCORTIN; POMC #145000 HYPERPARATHYROIDISM 1; HRPT1 *138040 NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 1; NR3C1 *300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC *153620 MACROPHAGE MIGRATION INHIBITORY FACTOR; MIF *138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR 229070 FOLLICLE-STIMULATING HORMONE, ISOLATED DEFICIENCY OF *152760 GONADOTROPIN-RELEASING HORMONE 1; GNRH1 276400 TWINNING, DIZYGOTIC *188595 THYROTROPH EMBRYONIC FACTOR; TEF *188545 THYROTROPIN-RELEASING HORMONE RECEPTOR; TRHR *184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1 *601802 HOMEO BOX GENE EXPRESSED IN ES CELLS; HESX1 104600 AMENORRHEA-GALACTORRHEA SYNDROME *109684 17-@BETA-HYDROXYSTEROID DEHYDROGENASE I; HSD17B1 *109685 17-@BETA-HYDROXYSTEROID DEHYDROGENASE II; HSD17B2 *147380 INHIBIN, ALPHA; INHA *201400 ACTH DEFICIENCY *601860 17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4 #146510 PALLISTER-HALL SYNDROME; PHS 241540 HYPOPITUITARISM, CONGENITAL, WITH CENTRAL DIABETES INSIPIDUS *236100 HOLOPROSENCEPHALY 1, ALOBAR; HPE1 *264300 PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA *300207 G PROTEIN-COUPLED RECEPTOR 50; GPR50 *300000 OPITZ SYNDROME *139313 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-11; GNA11 *137295 GATA-BINDING PROTEIN 2; GATA2 *167050 OXYTOCIN--NEUROPHYSIN I; OXT *275120 THYROTROPIN-RELEASING HORMONE DEFICIENCY *133430 ESTROGEN RECEPTOR 1; ESR1 *601576 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, SIGMA; PTPRS *601007 LEPTIN RECEPTOR; LEPR *236700 MCKUSICK-KAUFMAN SYNDROME; MKKS *245800 LAURENCE-MOON SYNDROME *269700 BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY; BSCL *176760 PROLACTIN; PRL *602663 PROLACTIN-RELEASING HORMONE *122559 CORTICOTROPIN RELEASING HORMONE-BINDING PROTEIN; CRHBP #530000 KEARNS-SAYRE SYNDROME; KSS 130720 EMPTY SELLA TURCICA, PRIMARY, WITH GENERALIZED DYSPLASIA *277170 VARADI-PAPP SYNDROME #125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE *300100 ADRENOLEUKODYSTROPHY; ALD *122560 CORTICOTROPIN-RELEASING HORMONE; CRH *136530 FOLLICLE-STIMULATING HORMONE, BETA POLYPEPTIDE; FSHB *147370 INSULIN-LIKE GROWTH FACTOR 1 RECEPTOR; IGF1R *603473 LARGE TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG 1; LATS1 *602996 IMMEDIATE-EARLY RESPONSE 3; IER3 253320 MULTICORE MYOPATHY WITH MENTAL RETARDATION, SHORT STATURE, AND HYPOGONADOTROPIC HYPOGONADISM *114130 CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA *240200 HYPOADRENOCORTICISM, FAMILIAL *600633 TREFOIL FACTOR 3; TFF3 600634 PROLACTINOMA, FAMILIAL *601233 INHIBIN, BETA C; INHBC #103900 ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE #103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO 245590 LARON SYNDROME, TYPE II *107910 CYTOCHROME P450, SUBFAMILY XIX; CYP19 *162361 NESCIENT HELIX LOOP HELIX 2; NHLH2 *152780 LUTEINIZING HORMONE, BETA POLYPEPTIDE; LHB *134920 FIBROBLAST GROWTH FACTOR 2; FGF2 #180500 RIEGER SYNDROME, TYPE 1; RIEG1 *209900 BARDET-BIEDL SYNDROME, TYPE 2; BBS2 *215470 CHORIORETINAL DYSTROPHY, SPINOCEREBELLAR ATAXIA, AND HYPOGONADOTROPIC HYPOGONADISM 146390 HYPOPITUITARISM ASSOCIATED WITH 18p- SYNDROME *127000 KENNY-CAFFEY SYNDROME, TYPE 2 #176410 PRECOCIOUS PUBERTY, MALE-LIMITED *152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR 219080 CUSHING DISEASE, ADRENAL *114855 CARBOXYPEPTIDASE E; CPE #157170 HOLOPROSENCEPHALY 2; HPE2 *126450 DOPAMINE RECEPTOR D2; DRD2 *176640 PRION PROTEIN; PRNP *201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY *300065 FSH PRIMARY RESPONSE, RAT, HOMOLOG 1; FSHPRH1 *603044 PLEOMORPHIC ADENOMA GENE-LIKE 1; PLAGL1 *602730 ACTIVIN A RECEPTOR, TYPE IIB; ACVR2B *600935 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 8; KCNJ8 *603759 LIM HOMEO BOX PROTEIN 2; LHX2 *602899 MITOGEN-ACTIVATED PROTEIN KINASE 13; MAPK13 *601413 DEIODINASE, IODOTHYRONINE, TYPE II; DIO2 308200 ICHTHYOSIS AND MALE HYPOGONADISM *274600 PENDRED SYNDROME; PDS #265800 PYCNODYSOSTOSIS *600950 ARYLALKYLAMINE N-ACETYLTRANSFERASE; AANAT 300270 ADRENOMYODYSTROPHY 216100 CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY *215400 CHORDOMA #192605 VENTRICULAR TACHYCARDIA, FAMILIAL *190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1 *188380 THYMOPOIETIN; TMPO #184700 POLYCYSTIC OVARY SYNDROME 1; PCO1 #241850 HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE *180200 RETINOBLASTOMA; RB1 *176795 PRO-MELANIN-CONCENTRATING HORMONE; PMCH *216550 COHEN SYNDROME; COH1 *240300 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I *182451 SOMATOSTATIN RECEPTOR 1; SSTR1 219050 CRYPTORCHIDISM, UNILATERAL OR BILATERAL *176400 PRECOCIOUS PUBERTY *168468 PARATHYROID HORMONE RECEPTOR 1; PTHR1 #275200 THYROTROPIN, UNRESPONSIVENESS TO #218700 HYPOTHYROIDISM, ATHYREOTIC *179820 RENIN; REN *164160 LEPTIN; LEP 269150 SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME #300068 ANDROGEN INSENSITIVITY SYNDROME; AIS *162200 NEUROFIBROMATOSIS, TYPE I; NF1 *160900 DYSTROPHIA MYOTONICA; DMPK *157145 MICROSEMINOPROTEIN, BETA; MSMB *269500 SCLEROSTEOSIS *300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK 176670 PROGERIA #308370 INFERTILE MALE SYNDROME #270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS *150200 CHORIONIC SOMATOMAMMOTROPIN HORMONE 1; CSH1 *224120 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I; CDAN1 #274300 THYROID HORMONE UNRESPONSIVENESS *147892 DEIODINASE, IODOTHYRONINE, TYPE I; DIO1 *231550 ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME; AAA *165195 OPIOID RECEPTOR, DELTA-1; OPRD1 *600418 AMPHIPHYSIN; AMPH *600493 EGF-LIKE MODULE CONTAINING MUCIN-LIKE HORMONE RECEPTOR; EMR1 *600494 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 2; POU3F2 *147440 INSULIN-LIKE GROWTH FACTOR I; IGF1 *600617 STEROIDOGENIC ACUTE REGULATORY PROTEIN; STAR #145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1 *142385 HEPATIC LEUKEMIA FACTOR; HLF *600730 G PROTEIN-COUPLED RECEPTOR 7; GPR7 *600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B *164177 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1 *600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11 *600945 UROCORTIN; UCN *228000 FARBER LIPOGRANULOMATOSIS *139240 GROWTH HORMONE 2; GH2 *137241 GASTRIC INHIBITORY POLYPEPTIDE RECEPTOR; GIPR *152391 ARACHIDONATE 12-OXIDOREDUCTASE; ALOX12 *136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR *131340 PRODYNORPHIN; PDYN #130650 BECKWITH-WIEDEMANN SYNDROME; BWS *128990 EARLY GROWTH RESPONSE 1; EGR1 *601773 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, N; PTPRN *123812 CYCLIC AMP RESPONSE ELEMENT MODULATOR; CREM *118930 SECRETOGRANIN II; SCG2 *601861 REGULATORY FACTOR X-ASSOCIATED PROTEIN; RFXAP *118860 CHORIONIC GONADOTROPIN, BETA CHAIN; CGB *601970 VASOACTIVE INTESTINAL PEPTIDE RECEPTOR 2; VIPR2 *602034 CORTICOTROPIN-RELEASING HORMONE RECEPTOR 2; CRHR2 *118444 CHOLECYSTOKININ A RECEPTOR; CCKAR #109400 BASAL CELL NEVUS SYNDROME; BCNS *602352 GONADOTROPIN-RELEASING HORMONE 2; GNRH2 *602358 HYPOCRETIN; HCRT *602390 HEMOCHROMATOSIS, TYPE 2; HFE2 *107740 APOLIPOPROTEIN D; APOD *106165 ANGIOTENSIN RECEPTOR 1; AGTR1 *147950 KALLMANN SYNDROME 2; KAL2 *602885 G PROTEIN-COUPLED RECEPTOR 38; GPR38 *602886 G PROTEIN-COUPLED RECEPTOR 39; GPR39 *600019 CYTOCHROME b561; CYB561 *102576 ACTIVIN A RECEPTOR, TYPE I; ACVR1 *600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2 *603106 NEURONATIN; NNAT *603129 LIM DOMAIN ONLY 4; LMO4 *102500 ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE *147620 INTERLEUKIN 6; IL6 *604143 EXTRA SPINDLE POLES, S. CEREVISIAE, HOMOLOG OF 208910 ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLY DEATH *604153 G PROTEIN-COUPLED RECEPTOR 66; GPR66 *604155 G PROTEIN-COUPLED RECEPTOR 69A; GPR69A *102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA top of page

Sample Entry Headings DESCRIPTION NOMENCLATURE CLINICAL FEATURES OTHER FEATURES INHERITANCE MAPPING MOLECULAR GENETICS DIAGNOSIS CLINICAL MANAGEMENT POPULATION GENETICS ANIMAL MODEL ALLELIC VARIANTS View List of allelic variants REFERENCES *SEE ALSO CONTRIBUTORS CREATION DATE EDIT HISTORY MINI-MIM CLINICAL SYNOPSIS Database Links MEDLINE Citations Protein Links Nucleotide Links Genome Link Cardiff Human Gene Mutation Database Gene Map GDB Coriell Cell Line Repository Nomenclature Database top of page

About Notes Notes from the Embryology Program compiled and written by Dr Mark Hill. Note Links to OMIM Entries and PubMed are copies of originals for computers without internet access. Computers with internet access can directly access these databases. Note that reference lists are only relevant to the date that the original search was carried out. top of page

m.hill@unsw.edu.au Date Last Modified: 8/12/99 This site maintained by Dr M. Hill