ENDOCRINE FEATURES

Associated diseases: MULLERIAN APLASIA AND HYPERANDROGENISM, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, ?NARCOLEPSY 7, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, BARTTER SYNDROME, TYPE 2, MICROPHTHALMIA, SYNDROMIC 6, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, ACRODERMATITIS ENTEROPATHICA, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, KOWARSKI SYNDROME, BOUCHER-NEUHAUSER SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, KENNY-CAFFEY SYNDROME, TYPE 1, LARON DWARFISM, MANDIBULOACRAL DYSPLASIA, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, PREMATURE OVARIAN FAILURE 9, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, VELOCARDIOFACIAL SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, HYPERPROINSULINEMIA, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, SECKEL SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, PEUTZ-JEGHERS SYNDROME, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, ?TETRA-AMELIA SYNDROME, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ACROMELIC FRONTONASAL DYSOSTOSIS, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, CARPENTER SYNDROME, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, CULLER-JONES SYNDROME, LUSCAN-LUMISH SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, ?WEBB-DATTANI SYNDROME, ?PREMATURE OVARIAN FAILURE 10, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2}, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, HEMOCHROMATOSIS, TYPE 4, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, COWDEN SYNDROME 7, GLYCOGEN STORAGE DISEASE IC, BARTTER SYNDROME, TYPE 4B, DIGENIC, CORNELIA DE LANGE SYNDROME 5, HEMOCHROMATOSIS TYPE 1, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, TUBEROUS SCLEROSIS-1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, HYPERALDOSTERONISM, FAMILIAL, TYPE III, PLEUROPULMONARY BLASTOMA, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, CARNEY COMPLEX, TYPE 1, THRYOID DYSHORMONOGENESIS 6, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, THYROID DYSHORMONOGENESIS 5, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, ?SPERMATOGENIC FAILURE 14, PANCREATIC AGENESIS 2, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP B, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, SILVER-RUSSELL SYNDROME, OVARIAN DYSGENESIS 4, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, PANHYPOPITUITARISM, X-LINKED, MITCHELL-RILEY SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, PERRAULT SYNDROME 4, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, RENAL CYSTS AND DIABETES SYNDROME, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, PRECOCIOUS PUBERTY, CENTRAL, 2, WOODHOUSE-SAKATI SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, MITOCHONDRIAL MYOPATHY WITH DIABETES, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, ?PERRAULT SYNDROME 2, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, THYROID DYSHORMONOGENESIS 2A, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, PANCREATIC AND CEREBELLAR AGENESIS, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, [PHENYLTHIOCARBAMIDE TASTING], MARTSOLF SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, CORTISONE REDUCTASE DEFICIENCY 1, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, CORTISONE REDUCTASE DEFICIENCY 2, PERRAULT SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, MODY, TYPE II, MECKEL SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, GLYCEROL KINASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, 46XY SEX REVERSAL 3, ADRENAL CORTICAL CARCINOMA, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, MICROPHTHALMIA, SYNDROMIC 14, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, BLOOM SYNDROME, OVARIAN DYSGENESIS 3, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, GITELMAN SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, VON WILLEBRAND DISEASE, PLATELET-TYPE, OLIGOSYNAPTIC INFERTILITY, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HEMOCHROMATOSIS, TYPE 3, LEOPARD SYNDROME 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, MENTAL RETARDATION, X-LINKED 102, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP E, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, {HASHIMOTO THYROIDITIS}, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, JOHANSON-BLIZZARD SYNDROME, DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD, HARTSFIELD SYNDROME, DIGEORGE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5, LEPRECHAUNISM, PEROXISOME BIOGENESIS DISORDER 2B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, HYDROLETHALUS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, AXENFELD-RIEGER SYNDROME, TYPE 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, SERKAL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, 3-M SYNDROME 1, WOLFRAM SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, VITAMIN D-DEPENDENT RICKETS, TYPE I, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA IIA, COHEN SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ?JOUBERT SYNDROME 26, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, ?CHARGE SYNDROME, CHARGE SYNDROME, RITSCHER-SCHINZEL SYNDROME 1, BORJESON-FORSSMAN-LEHMANN SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, PITUITARY HORMONE DEFICIENCY, COMBINED, 2, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, FRASIER SYNDROME, LIDDLE SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, BARTTER SYNDROME, TYPE 3, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ?46XY SEX REVERSAL 5, PALLISTER-HALL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, HYPERPARATHYROIDISM 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ALSTROM SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?HYPERPROLACTINEMIA, PENDRED SYNDROME, GLUCOCORTICOID RESISTANCE, PRIMROSE SYNDROME, INTERSTITIAL LUNG AND LIVER DISEASE, BARDET-BIEDL SYNDROME 6, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, GLUTARIC ACIDURIA III, LYMPHEDEMA, HEREDITARY, III, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, GLYCOGEN STORAGE DISEASE XII, THYROID HORMONE RESISTANCE, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, MODY, TYPE I, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, FUHRMANN SYNDROME, ROTHMUND-THOMSON SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, HOLOPROSENCEPHALY-2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, THYROID DYSHORMONOGENESIS 1, BAMFORTH-LAZARUS SYNDROME, TENORIO SYNDROME, PANCREATIC AGENESIS 1, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, BARTTER SYNDROME, TYPE 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, HOLOPROSENCEPHALY-9, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, PREMATURE OVARIAN FAILURE 8, OLIVER-MCFARLANE SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, THYROID DYSHORMONOGENESIS 3, PERLMAN SYNDROME, PERRAULT SYNDROME 5, CHILD SYNDROME, PREMATURE OVARIAN FAILURE 5, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SCHAAF-YANG SYNDROME, ?PRECOCIOUS PUBERTY, CENTRAL, 1, KENNY-CAFFEY SYNDROME, TYPE 2, THYROID DYSHORMONOGENESIS 4, ?SPERMATOGENIC FAILURE 13, WOLCOTT-RALLISON SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2, GLUCOCORTICOID DEFICIENCY 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, HAMAMY SYNDROME, LIPOID ADRENAL HYPERPLASIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, KABUKI SYNDROME 1, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, PERRAULT SYNDROME 3

Associated genes: TSC2, AMACR, SLC5A5, DYRK1B, GP1BA, GNAS, ENPP1, TTC7A, NSDHL, IL17RD, B2M, LHCGR, AKT2, SPINK1, KIF7, H6PD, POR, TNXB, PTEN, SUGCT, GCM2, XRCC4, SOX2, APOA1, FSHR, PTPN22, AR, RNF216, THRA, LMNB2, GNRHR, MT-ND6, HMGA1, LEP, FGF17, NR0B1, KCNJ1, SLC30A8, AP2S1, AAAS, MKKS, MKRN3, TAS2R38, LARS2, CYP21A2, GNAS-AS1, PNPLA6, DUSP6, FOXE1, SLC12A1, GATA1, CP, ALDOA, MT-TE, IL2RA, NRAS, HNF1B, RAB3GAP2, SETD2, STAG3, SCNN1B, FAM111B, IARS2, CTDP1, PITX2, FLRT3, SLC40A1, AIP, LHB, TANGO2, GLI3, RECQL4, MT-TH, PEX5, GH1, PAX4, TAC3, HMBS, CUL4B, EIF2B1, EIF2B5, PTPN11, GMPPA, DICER1, SPRY4, IER3IP1, LIPE, MCM4, DMXL2, GATA4, ZMPSTE24, RAB40AL, CLCNKB, CCDC170, RNF113A, CTNS, HLA-DQB1, SARS2, PDX1, POLR3B, ZFP57, PPP1R15B, NR3C1, TSC1, MCM8, PDE4D, PRDM5, CCBE1, FSHB, ARMC5, IRX5, MKS1, MTNR1B, SEMA3E, SNRPN, WDR11, ICR1, PDE11A, HARS2, PROP1, TAF4B, FGA, ZBTB20, LRBA, WT1, NDUFB11, PROK2, MT-CO3, NBN, AKR1C4, CYP11B1, CDC73, USP8, HSD11B1, AARS2, CUL7, GLRX5, SHOC2, FOXL2, CLCNKA, MPI, CIDEC, ERCC3, FGFR1, AVP, POLG, UBR1, POC1A, STAR, CYP27B1, GK, PTH, LIPC, MEN1, GDNF, FANCA, STAT3, NOBOX, NFKB2, MGME1, SLC2A2, MT-TL1, MEF2A, SLC29A3, NEUROD1, RIN2, NIN, B4GALNT1, KCNJ5, BMP2, MT-TS2, NDN, VDR, TP53, IRS2, LHX4, BSND, GLI2, LYZ, AIRE, PCSK1, PEX1, TEX15, TGFB1, IGF2, HYLS1, TSHR, GATA6, KMT2D, TACR3, DCAF17, APPL1, SDHB, TBCE, CACNA1C, TFR2, DUOX2, SLC2A4, BLM, MT-TQ, ZSWIM6, IL6, PIK3R1, DUOXA2, CTLA4, HSD3B2, ESR1, C10orf2, GCGR, LMNA, PLAGL1, SALL1, BLK, TBX19, MAPK8IP1, NRXN1, CYP11B2, PMM2, PPP1R3A, MAGEL2, FOXI1, ERCC8, VPS13B, STK11, KIAA0556, FMR1, CDKN1C, BCOR, PNPLA2, FANCM, ABCD1, CDKAL1, GATA3, ARNT2, MOG, RSPO1, HTR1A, SCNN1G, SLC39A4, ANOS1, KCNJ18, PTF1A, CCND1, SOX3, MT-TK, NNT, MSMO1, CEL, ICK, HSD17B3, GLIS3, PTPN1, NKX2-1, TBX1, INS, ABCC8, BSCL2, TPO, DIS3L2, DDX3X, OAS1, SDHD, STAT1, MAB21L2, VHL, USP9X, KIF1B, STEAP3, BRCA1, SEMA3A, MT-ND1, POLD1, EIF2B2, HNF1A, TSHB, H19, NONO, ALMS1, POLG2, G6PC3, SERPINC1, IRS1, IGF2BP2, HDAC8, STUB1, MT-ND4, WNT3, NR5A1, AKR1C2, HADH, TP63, HFM1, TMEM127, HAMP, PCNT, CBX2, FEZF1, FOXD3, CACNA1S, STRADA, TRH, PSMC3IP, IYD, HRAS, CISD2, EIF2AK3, AGPAT2, PRLR, SLC12A3, CYP17A1, SLC37A4, CAV1, IGSF1, PAPSS2, KISS1, CNBP, SRD5A3, ACP5, FANCE, TBX3, PPARG, CAPN10, FAM111A, OTX2, PRKAR1A, KISS1R, RBM28, BTK, TG, SIX3, MARS2, NEUROG3, ZMYND15, BMP4, WNT4, WFS1, POU1F1, HLA-DQA1, THRB, RFX6, PTCH1, WNT7A, CHD7, KRAS, NKX2-5, EIF2B4, WRN, TCF7L2, GAS1, CACNA1D, GHSR, TRMT10A, LHX3, CDKN1B, GNAI2, HS6ST1, IFNG, MT-TD, MAX, GHR, SLC19A2, PROKR2, GLUD1, SEC23B, LRP6, PAX8, PLIN1, TTR, KCNJ11, GNA11, GJA1, SOX9, HNF4A, KCNQ1OT1, CASR, GCK, SMARCAL1, FOXP3, NDUFS1, SRD5A2, PIEZO1, GPD2, SLC26A4, MT-TS1, ITCH, ATP7B, RNF125, SIL1, ITPR3, HESX1, POLR3A, MCM9, RAB23, RETN, HSD17B4, PHF6, ENTPD1, ATM, NSD1, PRKACA, FXN, INSR, KIAA0196, EIF2B3, CEP57, SLC16A1, MARS, PTRF, MT-ND5, RET, ARX, CLPP, DNAJC3, GNRH1, CYC1, STX16, BMPR1B, HFE2, HFE, SHH