OMIM - 102200
SOMATOTROPHINOMA, FAMILIAL, INCLUDED
Somatotrophinoma Autosomal dominant; recessive gene loss at 11q13 for somatotrophinoma
OMIM - 102660
Adamantinoma of long bones Autosomal dominant
OMIM - 103900
;;FH I ; ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE ; GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM GSH;; GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM GRA;; ACTH-DEPENDENT HYPERALDOSTERONISM, SYNDROME OF
Multiple adrenocortical adenomas; Hyperaldosteronism; Failure of saline infusion to suppress plasma aldosterone; Failure of furosemide or low sodium diet to stimulate plasma renin
OMIM - 104600
Pituitary adenoma Autosomal dominant
OMIM - 105580
CLOACOGENIC CARCINOMA, INCLUDED
Anal canal squamous carcinoma Autosomal dominant
OMIM - 108330 ;;CYTOCHROME P450, AROMATIC COMPOUND-INDUCIBLE ; ARYL HYDROCARBON HYDROXYLASE AHH;; FLAVOPROTEIN-LINKED MONOOXYGENASE ; CYTOCHROME P1-450, DIOXIN-INDUCIBLE ; CYTOCHROME P1-450, INDUCIBLE BY 2,3,7,8-TETRACHLORODIBENZO-P-DIOXIN ; TCDD-INDUCIBLE CYTOCHROME P1-450; P450DX ; POLYCYCLIC AROMATIC COMPOUND-INDUCIBLE P450
High-inducibility phenotype at greater risk for bronchogenic carcinoma
Autosomal dominant (15q22-qter)
OMIM - 109350 ;;GER BARRETT METAPLASIA, INCLUDED ; BARRETT ESOPHAGUS, INCLUDED ; ADENOCARCINOMA OF ESOPHAGUS, INCLUDED
Adenocarcinoma of the esophagus risk about 10% Columnar epithelium-lined distal esophagus Autosomal dominant
OMIM - 109543
;;DISRUPTED IN B-CELL MALIGNANCY DBM;; LEUKEMIA, CHRONIC LYMPHOCYTIC, B-CELL ; BCLL
B-cell chronic lymphocytic leukemia (CLL) Autosomal dominant (13q14)
OMIM - 109560
;;BCL4, FORMERLY
Chronic lymphocytic leukemia Chromosome 19 rearrangement, e.g. t(14;19)(q32;13.1)
OMIM - 112250
;;DMSMFH ; BONE DYSPLASIA WITH MEDULLARY FIBROSARCOMA BDMF;; BONE DYSPLASIA WITH MALIGNANT FIBROUS HISTIOCYTOMA
Malignant fibrous histiocytoma Bone lesions follow minimal trauma Multiple necrosis in large tubular bone diaphyses; Diaphyseal medullary stenosis with overlying cortic
OMIM - 113970 BL
Burkitt lymphoma; Causally related to the Epstein-Barr virus Chromosomal translocations involving the MYC gene (8q24) and the lambda (22q) or the kappa (2p) light chain or h
OMIM - 114400 LCFS2
;;CANCER FAMILY SYNDROME
Multiple primary malignant neoplasms; Primary colon (esp. right colon) and endometrial carcinoma; Breast cancer with ovarian cancer, sarcoma, brain tumors, leukemia, or gastrointestinal carcinoma
OMIM - 114450
Familial cancer; Possible radiogenic tumor origin In vitro resistance to cell killing by gamma-irradiation Autosomal dominant
OMIM - 114480
BREAST CANCER, FAMILIAL ; BREAST CANCER, FAMILIAL MALE, INCLUDED
Breast cancer
OMIM - 114500 HNPCC ;;COLON CANCER, FAMILIAL NONPOLYPOSIS ; COLORECTAL CANCER CRC;; LYNCH CANCER FAMILY SYNDROME I
Hereditary nonpolyposis colorectal carcinoma; Associated endometrial carcinoma, atypical endometrial hyperplasia, uterine leiomyosarcoma, bladder transitional carcinoma, gastric, biliary
OMIM - 114835
;;SERINE ESTERASE 1; SES1;; CARBOXYLESTERASE, LIVER ; CARBOXYLESTERASE 2, FORMERLY CES2, FORMERLY MONOCYTE ESTERASE DEFICIENCY, INCLUDED ; MONOCYTE CARBOXYLESTERASE DEFICIENCY, INCLUDED
Increased frequency of CES1 deficiency in non-Hodgkin lymphoma (NHL) and B-cell chronic lymphocytic leukemia (CLL) CES1 deficiency reported in rheumatoid arthritis
OMIM - 114900
Intestinal carcinoid; Appendiceal carcinoid; Malignant carcinoid of ileum Autosomal dominant
OMIM - 115310 ;;PHEOCHROMOCYTOMA, EXTRAADRENAL, AND CERVICAL PARAGANGLIOMA
Carotid body tumors; Multiple extraadrenal pheochromocytomas Autosomal dominant; )
? same as Paragangliomata (OMIM - 168000
OMIM - 117600
Cerebral fibrosarcoma Autosomal Dominant
OMIM - 117800
Positive correlation between wet ear wax and breast cancer Axillary odor association Autosomal Dominant
OMIM - 118330
Increased lower lip squamous cell carcinoma Autosomal dominant
OMIM - 118350
Cutaneous angiolipomas; Retroperitoneal chemodectomas Autosomal dominant
OMIM - 118865
Benign tumefaction of a chorista (embryonic tissue rest) Histopathology shows bone formation with trabeculae, blood-filled cavernous spaces, and cells typical of bone formation (osteob
OMIM - 120435 ;;FCC1;; COCA1;; COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; HNPCC1;; HNPCC MutS, E. COLI, HOMOLOG OF, 2, INCLUDED MSH2, INCLUDED
Nonpolyposis colon cancer Up to 60% of cases of nonpolyposis colon cancer Autosomal dominant (2p16)
OMIM - 120436 ;;FCC2;; COCA2;; COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2 MutL, E. COLI, HOMOLOG OF, 1, INCLUDED MLH1, INCLUDED
Nonpolyposis colon cancer Up to 30% of cases of nonpolyposis colon cancer Autosomal dominant (3p23-p21.3)
OMIM - 124030 CYP2D ;;P450DB1;; DEBRISOQUINE HYDROXYLATION ; DEBRISOQUINE 4-HYDROXYLASE SPARTEINE OXIDATION, INCLUDED ; NORTRIPTYLINE OXIDATION, INCLUDED ; CYP2D6, INCLUDED ; CYP2D6L, INCLUDED
Susceptibility to bladder and lung cancer Autosomal recessive (22q13.1)
OMIM - 126340 ;;DNA REPAIR DEFECT EM9 OF CHINESE HAMSTER OVARY CELLS, COMPLEMENTATION OF EM9
DNA repair defect XPD protein mutation Associated with: Xeroderma pigmentosum; Cockayne syndrome; Trichothiodystrophy Autosomal dominant (19q13.2-q13.3)
OMIM - 131440 ;;MPE EMP
Malignant eosinophil proliferation Autosomal dominant (12p13)
OMIM - 131445
Ependymoma Mosaicism for loss of chromosome 22 in tumor tissue Autosomal dominant
OMIM - 131750 ;;ALBOPAPULOID DOMINANT DYSTROPHIC EB EBDD EPIDERMOLYSIS BULLOSA, PRETIBIAL, WITH LICHENOID FEATURES, INCLUDED
Malignancy increased in healed lesions Congenital or neonatal onset Anchoring fibril defect; Deranged glycosaminoglycan metabolism Autosomal dominant mutatio
OMIM - 133239
Esophageal cancer Frequent loss of heterozygosity of APC and/or MCC genes Autosomal dominant
OMIM - 133450 EWING SARCOMA, INCLUDED EWS, INCLUDED; ES, INCLUDED;; NEUROEPITHELIOMA, PERIPHERAL, INCLUDED PNE, INCLUDED;; ASKIN TUMOR, INCLUDED ; ESTHESIONEUROBLASTOMA, INCLUDED
Ewing sarcoma; Peripheral neuroepithelioma; Askin tumor (thoracopulmonary malignancy) Frequent t(11;22)(q24;q12) Autosomal dominant
OMIM - 133510 XERODERMA PIGMENTOSUM II, INCLUDED XP2, INCLUDED;; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B, INCLUDED XPB, INCLUDED;; XP, GROUP B, INCLUDED XPBC, INCLUDED
Xeroderma pigmentosum complementation group B (type II); Xeroderma pigmentosum-Cockayne syndrome complex DNA excision-repair cross-complementing (ERCC3) gene defect
OMIM - 133530 ;;UV-DAMAGE, EXCISION REPAIR OF, UV-135; UVDR ERCM2;; ULTRAVIOLET SENSITIVITY, MOUSE, COMPLEMENTATION OF ; RAD2, YEAST, HOMOLOG OF ; XERODERMA PIGMENTOSUM, GROUP G CORRECTING PROTEIN XPGC;; XPG XERODERMA PIGMENTOSUM/COCKAYNE SYNDROME COMPLEX, INCLUDED ; XPG/CS, INCLUDED
Xeroderma pigmentosum complementation group G
Xeroderma pigmentosum-Cockayne syndrome complex DNA excision-repair cross-complementing (ERCC5) gene defect Autosomal do
OMIM - 135000
Increased lung cancer Diffuse pulmonary fibrosis Autosomal dominant; ? same as idiopathic pulmonary fibrosis
OMIM - 135290 ;;FIBROMATOSIS, FAMILIAL INFILTRATIVE FIF
Predisposed to desmoid tumor; ? Predisposed to colon cancer Autosomal dominant
OMIM - 137215
Gastric cancer Gastric dysplasia; Chronic atrophic gastritis; Intestinal metaplasia
OMIM - 137800 GLIOBLASTOMA MULTIFORME, INCLUDED GLM, INCLUDED; GBM, INCLUDED;; ASTROCYTOMA, INCLUDED
Brain glioma multiforme Loss of heterozygosity in tumors, esp chrom. 10 and 19q Autosomal dominant vs. recessive
OMIM - 142630
Generalized maximally pea-sized histiocytic skin tumors Onset in early adolescence Autosomal dominant
OMIM - 147800 ;;JOINT CONTRACTURES WITH OTHER ABNORMALITIES
Congenital neuroblastoma Multiple ventricular septal defects Single sternal ossification center; Talipes equinovarus Stillborn or death in infancy
OMIM - 148000 ;;MULTIPLE IDIOPATHIC PIGMENTED HEMANGIOSARCOMA
Kaposi sarcoma Red-purple nodules, plaques, and macules; Limb edema Rarely familial Autosomal dominant
OMIM - 148390
Internal malignancies; Uterine carcinoma Fibroblasts show gross cytopathic changes, low survival indices, and increased DNA single-strand break frequency following long-wave ultravi
OMIM - 151590 LSA
Vulvar LSA may predispose to squamous cell carcinoma Autosomal dominant
OMIM - 151623 LFS ;;SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI ; SBLA SYNDROME LI-FRAUMENI SYNDROME-VARIANT, INCLUDED ; LFS-VARIANT, INCLUDED
Rhabdomyosarcoma; Soft tissue sarcomas; Breast cancer; Brain tumors; Osteosarcoma; Leukemia; Adrenocortical carcinoma; Lymphocytic or histiocytic lymphoma; Lung adenocarcin
OMIM - 153600 WM
Increased frequency of lymphoma, leukemia, and adenocarcinom of lung Polyneuropathy Impaired lymphocyte transformation with phytohemagglutinin; Polyclonal elevation of IgM
OMIM - 155240 MTC ;;MTC1;; MTCF
Medullary thyroid carcinoma; No other primary tumors Autosomal dominant
OMIM - 155255 ;;MDB
Medulloblastoma Isochromosome 17q frequent in cytogenetic studies; Loss of heterozygosity for 17p sequences in 45% of medulloblastomas Autosomal dominant
OMIM - 156240
Malignant mesothelioma Hereditary predisposing factor
OMIM - 156610 ;;SKIN CREASES, MULTIPLE BENIGN RING-SHAPED, OF LIMBS
Localized neuroblastoma Congenital heart defect Spontaneous resolution of skin creases in childhood Autosomal dominant
OMIM - 161550
Nasopharyngeal cancer 100-fold higher frequency in southern China than Europe; Males more frequently affected than females; HLA linked gene confers greatly ineased risk
OMIM - 162091 ;;NEURILEMMOMATOSIS, CONGENITAL CUTANEOUS
Neurilemmomas; Schwannomas; Acoustic neuromas Autosomal dominant
OMIM - 162240 ;;NPDC SYNDROME ; DUODENAL CARCINOID SYNDROME
Duodenal carcinoid tumor; Neurofibromatosis; Pheochromocytoma Obstructive jaundice Autosomal dominant
OMIM - 162260 NF3A ;;NEUROFIBROMATOSIS, TYPE III, OF RICCARDI NF-III;; NEUROFIBROMATOSIS, TYPE III, RICCARDI TYPE NEUROFIBROMAS, PALMAR CUTANEOUS, INCLUDED
Bilateral acoustic neuromas; Posterior fossa and upper cervical meningiomas; Spinal/paraspinal neurofibromas No iris Lisch nodules CNS tumors by second or early third dec
OMIM - 163955
Giant cell lesions of bone and soft tissue Short stature Hypertelorism Prominent posteriorly angulated ears Short webbed neck Cubitus valgus
OMIM - 165660 ;;OSTEOSARCOMA, LIMB ANOMALIES, AND ERYTHROID MACROCYTOSIS WITH MEGALOBLASTIC MARROW
Osteosarcoma Clinodactyly; Absent digital ray in foot; Radioulnar synostosis Macrocytosis without anemia Autosomal dominant
OMIM - 166000 ;;ENCHONDROMATOSIS ; DYSCHONDROPLASIA ; OLLIER DISEASE MAFFUCCI SYNDROME, INCLUDED
Chondrosarcoma; Ovarian juvenile granulosa cell tumor with precocious pseudopuberty Most cases sporadic Enchondromata ? Autosomal dominant form
OMIM - 167000 OVARIAN CANCER, FAMILIAL, INCLUDED ; OVARIAN TUMOR, INCLUDED ; PERITONEAL OVARIAN CARCINOMATOSIS, INCLUDED
Ovarian cancer; Dysgerminoma; Ovarian papillary adenocarcinoma; Serous ovarian cystadenocarcinoma; Breast cancer Frequent loss of heterozygosity at 6q24-q27
OMIM - 167250
Giant cell tumor; Osteogenic sarcoma Nuclear and cytoplasmic tubular filamentous inclusions in osteoclasts Autosomal dominant
OMIM - 167300
Extramammary Paget disease; Internal malignancy Eczematous eruptions with weeping and crust formation Rare familial cases
OMIM - 168461 ;;PARATHYROID ADENOMATOSIS 1; PRAD1;; B-CELL CLL/LYMPHOMA 1; BCL1;; B-CELL LEUKEMIA 1
Parathyroid adenomas Overexpressed PRAD1 Autosomal dominant; ? BCL1 gene same as PRAD1
OMIM - 171300
Adrenal medullary tumor Tachycardia; Congestive heart failure Sweating; Cafe-au-lait spots; Hemangiomata Episodic hypertension Hypertensive
OMIM - 171350 ;;PARAGANGLIOMAS, HEREDITARY EXTRAADRENAL
Primary extraadrenal pheochromocytoma; Pheochromocytoma of organ of Zuckerkandl; Pheochromocytoma at the aortic bifurcation; Pheochromocytoma oflower urinary tract; Pheochromocytoma of
OMIM - 171420
Pheochromocytoma; Islet cell tumor Cafe-au-lait spots; Axillary freckling; Sweating Tachycardia; Congestive heart failure Episodic hypertension
OMIM - 172800 PBT ;;PIEBALDISM
Frequent epitheliomas Occasional deafness Rare Hirschsprung disease Autosomal dominant (4q11-q12)
OMIM - 173420
Hematologic neoplasms; Neuroblastoma Autosomal dominant
OMIM - 174900 ;;PJI ; JUVENILE INTESTINAL POLYPOSIS JIP;; POLYPOSIS, FAMILIAL, OF ENTIRE GASTROINTESTINAL TRACT ; JUVENILE POLYPOSIS SYNDROME JPS JUVENILE POLYPOSIS OF STOMACH, INCLUDED
Colon cancer (cancer not arising in polyps) Digital clubbing Failure to thrive Anemia Hypoalbuminemia; Hypokalemia; Pedunculated spherical smooth po
OMIM - 175020
Stomach adenocarcinoma propensity
OMIM - 176450 ;;CURRARINO TRIAD SACRAL AGENESIS SYNDROME, INCLUDED ; SACRAL AGENESIS, HEREDITARY, WITH PRESACRAL MASS, ANTERIOR MENINGOCELE, AND/OR TERATOMA, AND ANORECTAL MALFORMATION, INCLUDED ; SCRA1, INCLUDED
Presacral teratoma Sacral defect Anal stenosis; Imperforate anus Primitive sciatic artery; Arteriovenous shunting Sacral meningomyelocele;
OMIM - 176797 ;;PROMYELOCYTIC LEUKEMIA ZINC FINGER PLZF PLZF-RARA FUSION GENE, INCLUDED
APL with variant translocation t(11;17)(q23;21) has PLZF (promyelocytic leukemia zinc finger) fusion to the RARA (retinoic acid receptor) gene on chromosome 17
OMIM - 176807
Early onset prostate cancer Autosomal dominant form
OMIM - 176873 ;;PROTEIN KINASE p58; PK58; p58;; CDC-RELATED PROTEIN KINASE p58;; PITSLRE B
PK58 involved in tumors with 1p36 deletion Autosomal dominant
OMIM - 176960 PRKCA ;;PKCA
Pituitary tumor (e.g. .0001 Pituitary tumor, invasive); Tumor-specific deletion in a primary melanoma cell line Autosomal dominant (17q22-q23.2)
OMIM - 178500 ;;HAMMAN-RICH DISEASE ; FIBROSING ALVEOLITIS, CRYPTOGENIC
Increased alveolar cell carcinoma (ACC) Increased collagenase in lower respiratory tract; Increased gamma globulin; Alveolar inflammation; Overproduction of platelet-derived grow
OMIM - 179755 PRCC ;;RCCP1 PRCC/TFE3 FUSION GENE, INCLUDED
Multiple papillary renal cell carcinomas No loss of heterozygosity at loci on 3p Translocation t(X 1)(p11;q21) associated Autosomal dominant
OMIM - 179760
Sporadic, nonpapillary renal cell carcinoma Loss of 14q22-qter segment in tumors Autosomal dominant
OMIM - 179770
Sporadic, nonpapillary renal cell carcinoma 5q22-qter region trisomy in tumors Autosomal dominant
OMIM - 180730
Basal cell carcinomas; Trichoepitheliomas Skin change onset at ages 7 to 10 years Elastin loss and clumping in skin Autosomal dominant
OMIM - 181030 ;;SGPA ; PSA
Pleomorphic benign salivary gland adenoma (PSA) Chromosome 8 or 12q rearrangements Autosomal dominant
OMIM - 181035 SAS
Malignant fibrous histiocytoma Sarcoma amplified sequence; Chromosome rearrangements of 12q common in myxoid liposarcoma, benign lipoma, and uterine leiomyoma
OMIM - 181600 TYS ;;SCLEROATROPHIC AND KERATOTIC DERMATOSIS OF LIMBS ; HURIEZ SYNDROME HRZ
Frequent skin and bowel cancer Autosomal dominant (4q28-q31)
OMIM - 182280 ;;SCLC1;; SCLC SCCL
Small-cell lung cancer Sensitive to chemotherapy and radiotherapy 3p23-p14 chromosome deletion in tumor Autosomal dominant
OMIM - 184500 ;;SEBACEOUS CYSTS, MULTIPLE
Malignant transformation of steatocystoma Autosomal dominant
OMIM - 186770 ;;T-CELL ACUTE LYMPHOCYTIC LEUKEMIA ; T-CELL LEUKEMIA 3; TCL3
T-cell acute lymphoblastic leukemias Elevated TCL3 expression in leukemic cells with t(10; 14) translocation Autosomal dominant
OMIM - 188470 FTC
Follicular thyroid carcinoma Loss of heterozygosity (LOH) on chromosome 3p Autosomal dominant
OMIM - 188550 ;;PAPILLARY CARCINOMA OF THYROID PACT; PTC; TPC;; FAMILIAL NONMEDULLARY THYROID CANCER FNMTC;; NONMEDULLARY THYROID CARCINOMA NMTC THYROID PAPILLARY CARCINOMA ONCOGENE, INCLUDED
Papillary carcinoma of thyroid; Reported colon and other abdominal cancer in relatives Onset earlier than in sporadic cases Frequent inv(10)(q11.2q21) producing chimeric tran
OMIM - 188825
Frequent allelic deletion in breast cancer patients Tissue inhibitor of metalloproteinase-2 Autosomal dominant (17q25)
OMIM - 189990 MYB ;;ONCOGENE MYB ; AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG ; ONCOGENE AMV
Allelic deletions of MYB correlate with progression and metastasis of some carcinomas and sarcomas Translocation in T cell acute lymphatic leukemia and in some ovarian cancers
OMIM - 190020 HRAS ;;HRAS1;; HARVEY MURINE SARCOMA VIRUS ONCOGENE RASH1;; TRANSFORMATION GENE: ONCOGENE HAMSV V-HA-RAS VIRAL ONCOGENE HOMOLOG PSEUDOGENE, INCLUDED HRASP, INCLUDED;; ONCOGENE HARVEY RAS2, INCLUDED HRAS2, INCLUDED
Bladder cancer (e.g. .0001); Melanoma; Mammary carcinosarcoma; Lung carcinoma; Renal pelvic carcinoma; Colon cancer;
OMIM - 190040 PDGFB ;;V-SIS PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE ; PLATELET-DERIVED GROWTH FACTOR, B CHAIN ; PDGF, B CHAIN ; PDGF2;; ONCOGENE SIS ; SIMIAN SARCOMA VIRAL ONCOGENE HOMOLOG SSV
Meningioma (e.g. .0001) Chromosomal translocations involving 22q12 in most cases of Ewing sarcoma Autosomal dominant (22q13.1)
OMIM - 190070 KRAS2 ;;KIRSTEN MURINE SARCOMA VIRUS 2; RASK2;; ONCOGENE KRAS2 V-KI-RAS1 PSEUDOGENE, INCLUDED KRAS1P, INCLUDED;; ONCOGENE KRAS1, INCLUDED ; KIRSTEN RAS1, INCLUDED RASK1, INCLUDED
Lung cancer (e.g. .0001); Squamous cell lung cancer (e.g. .0002) Bladder cancer (e.g. .0002); Breast cancer (e.g. .0003); Transitional cell bladder cancer (e.g. .0004); Pancreatic carc
OMIM - 190080 MYC ;;ONCOGENE MYC ; AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG ; PROTOONCOGENE HOMOLOGOUS TO MYELOCYTOMATOSIS VIRUS
Burkitt lymphoma (e.g. .0001) 65% of 57 Burkitt lymphomas tested exhibited at least 1 amino acid substitution in MYC Chromosome translocations 8;14,2;8 or 8;22 i
OMIM - 190160 THRB ;;V-ERB-A AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBA2;; ONCOGENE ERBA2;; ERBA-BETA GENERALIZED RESISTANCE TO THYROID HORMONE, INCLUDED GRTH, INCLUDED
Deleted in small cell lung carcinoma Thyroid hormone receptor defect; High levels of thyroid hormones; Inappropriate secretion of TSH Autosomal dominant (3p24.3)
OMIM - 190920 TPBG; M6P1
Premalignant dysplasia of cervix Marker for cervical premalignant dysplastic changes Autosomal dominant (6q14-q15)
OMIM - 192090 ;;CADHERIN, EPITHELIAL ; E-CADHERIN CDHE; ECAD;; UVOMORULIN UVO;; CALCIUM-DEPENDENT ADHESION PROTEIN, EPITHELIAL
Cancer invasion and metastasis trigger; Endometrial carcinoma (e.g. .0001); Ovarian carcinoma (e.g. .0003) Reduced expression of E-cadherin; Cell-cell adhesion system dysfunction
OMIM - 194070 ;;NEPHROBLASTOMA
Wilms tumor; Mesothelioma, multicystic type (e.g. Mesothelioma .0016) Aniridia; Iris dysplasia; Cataract Hemihypertrophy Mental retardation
OMIM - 194071 ;;WILMS TUMOR 2; WT2
Wilms tumor Autosomal dominant (11p15.5); WAGR complex can be a contiguous gene syndrome; at least 3 genes can produce Wilms tumor: one in 11p13, one in 11p15.5
OMIM - 194080 ;;DRASH SYNDROME ; DENYS-DRASH SYNDROME ; NEPHROPATHY, WILMS TUMOR, AND GENITAL ANOMALIES
Wilms tumor; Gonadoblastoma Male pseudohermaphroditism; Nephropathy; Primary amenorrhea; Nephrotic syndrome Renal failure before age 3 years;
OMIM - 194090
Wilms tumor Autosomal dominant (16q); WAGR complex can be a contiguous gene syndrome; at least 3 genes can produce Wilms tumor: one in 11p13, one in 11p15.5
OMIM - 194533 ;;ZINC FINGER PROTEIN HF.10; HF10
Frequently deleted in small cell lung cancer and renal carcinoma Autosomal dominant (3p22-p21)
OMIM - 202300 ADCC ADRENOCORTICAL CARCINOMA CHROMOSOME REGION, INCLUDED ADCR, INCLUDED
Adrenocortical carcinoma Autosomal recessive
OMIM - 202700 ;;AGRANULOCYTOSIS, INFANTILE GENETIC ; KOSTMANN DISEASE ; NEUTROPENIA, SEVERE CONGENITAL SCN
Acute monocytic leukemia Hypergammaglobulinemia Autosomal recessive
OMIM - 267730
Reticulum cell sarcoma Autosomal recessive in several families
OMIM - 268210 ;;RHABDOMYOSARCOMA, EMBRYONAL, 1; RMSE1;; RHABDOMYOSARCOMA CHROMOSOMAL REGION RMSCR
Embryonal rhabdomyosarcoma Autosomal recessive
OMIM - 268220 ;;RHABDOMYOSARCOMA, ALVEOLAR RMSA
Alveolar rhabdomyosarcoma Autosomal recessive
OMIM - 273300 TERATOMA, TESTICULAR, INCLUDED ; SEMINOMA, INCLUDED ; GERM CELL TUMOR, INCLUDED GCT, INCLUDED;; MALE GERM CELL TUMOR, INCLUDED MGCT, INCLUDED
Male germ cell tumors (GCT); Seminoma; Testicular teratoma Loss of 12q chromosomal material Autosomal recessive
OMIM - 274230
Thymoma Respiratory insufficiency Autosomal recessive
OMIM - 274260
Malignant epithelial thymus tumor; Thymic carcinoma; Spindle cell thymoma Hypogammaglobulinemia Autosomal recessive
OMIM - 274600 PDS ;;DEAFNESS WITH GOITER ; GOITER-DEAFNESS SYNDROME THYROID HORMONOGENESIS, GENETIC DEFECT IN, IIB, INCLUDED ; THYROID HORMONE ORGANIFICATION DEFECT IIB, INCLUDED
Thyroid carcinoma Thyroid hormone organification defect Autosomal recessive
OMIM - 277970
Predisposition to malignancy, esp. reticuloendothelial Death in first decade Platelet surface glycoproteins abnormal; High IgA and IgE
Variable IgG
Low IgM
OMIM - 278720 XPC ;;XPCC ; XP, GROUP C ; XERODERMA PIGMENTOSUM III XP3
Especially prone to malignant melanoma Defective DNA repair after ultraviolet radiation damage Autosomal recessive
OMIM - 300033 ;;MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 7;; ALL1 FUSED GENE FROM X CHROMOSOME AFX1
Mixed-lineage leukemia Chromosome translocation t(X 11)(q13;q23) X-linked
OMIM - 300310 ;;XLA2
Increased risk of colorectal cancer Rheumatoid-arthritis-like syndrome Recurrent fever Reduced peripheral blood lymphocyte ecto-5-prime-nucleotidase;
OMIM - 301050 ATS ;;NEPHROPATHY AND DEAFNESS ALPORT SYNDROME-LIKE HEREDITARY NEPHRITIS, INCLUDED ASLHN, INCLUDED; ASLN, INCLUDED
Diffuse leiomyomatosis Men more severely affected than women Microscopic hematuria; Urinary red cell casts; Proteinuria; Cylindruria; Leukocyturia;
OMIM - 305000 DKC ;;ZINSSER-COLE-ENGMAN SYNDROME
Frequent cancer in leukoplakia of anus or mouth, or in skin; Hodgkin disease; Pancreatic adenocarcinoma, Opportunistic infections; Elevated immunoglobulin levels
OMIM - 306100 GDXY ;;SWYER SYNDROME TESTIS-DETERMINING FACTOR, X-CHROMOSOMAL, INCLUDED TDFX, INCLUDED;; SEX-REVERSING LOCUS ON X, INCLUDED SRVX, INCLUDED
Increased neoplasia (gonadoblastomas and germinomas) Normal stature X-linked (Xp22.3-p21)
OMIM - 308940 ;;DIFFUSE LEIOMYOMATOSIS WITH ALPORT SYNDROME DL-ATS
Diffuse leiomyomatosis Esophageal leiomyomatosis; Postprandial vomiting Decreased renal function; Genital leiomyomatosis Cataract; Anterior lenticonus
OMIM - 310465 NSX
Lymphoblastic leukemia with mediastinal mass Increased chromosome breakage; Possible DNA polymerase alpha defect X-linked
OMIM - 311010 ;;ONCOGENE ARAF1;; RAFA1;; ONCOGENE PKS2
Oncogene ARAF1 Serine/threonine-specific kinase activity X-linked (Xp11.4-p11.2)
OMIM - 311030 MCF2 ;;ONCOGENE MCF2;; ONCOGENE DBL DBL
Oncogene MCF2 Serine phosphorylase activity X-linked (Xq27)
OMIM - 311040 ELK1 ;;ONCOGENE ELK1 ELK2, MEMBER OF ETS ONCOGENE FAMILY, PSEUDOGENE 1, INCLUDED
Oncogene ELK-1 Near breakpoint in t(X
18)(p11.2;q11.2), characteristic of synovial sarcoma X-linked (Xp11.2)
OMIM - 312800 HEMISACRUM, FAMILIAL, TYPE I, INCLUDED ; ANOSACRAL ANOMALIES, INCLUDED
Synovial sarcoma Translocation t(X 18)(p11;q11) in tumor cells X-linked
OMIM - 424500 GBY
Gonadoblastoma risk Phenotypic females with dysgenetic gonads Presence of Y-chromosomal material Y-linked (pericentromeric vs. Yq)
OMIM - 480000 SRY ;;TESTIS-DETERMINING FACTOR TDF;; TESTIS-DETERMINING FACTOR ON Y TDY
Increased incidence of gonadoblastoma and germinoma 46,XY chromosomes Y-linked
OMIM - 489500 XGR ;;XG AND MIC2 EXPRESSION ON ERYTHROCYTES
Regulator of MIC2 expression Y-linked pseudoautosomal (Yp11 and Xp22.32)
OMIM - 600049 ;;MYELODYSPLASIA SYNDROME-ASSOCIATED SEQUENCE 1
Myelodysplasia syndrome Chromosome translocation t(3;21)(q26;q22) Autosomal dominant
OMIM - 600365 ABR
Medulloblastoma Gene deletion Autosomal dominant (17p13.3)
OMIM - 600541 ;;ETS TRANSLOCATION VARIANT 1;; ER81, MOUSE, HOMOLOG OF
Ewing sarcoma translocation variant Translocation t(7;22)(p22;q12) Autosomal dominant (7p22)
OMIM - 600630 UVS
No tumors Autosomal recessive; heterogeneous
OMIM - 600634
Prolactin-secreting pituitary adenoma; Prolactinoma Familial tendency independent of association with MEN-1
OMIM - 600841 ;;PROSTATIC CARCINOMA TUMOR-INDUCING GENE 1; PTI1
Prostatic carcinoma Expression in patient-derived prostatic carcinomas; No expression in benign prostatic hypertrophy or normal prostate tissue; RNA transcripts in human carcinoma c
OMIM - 600880 MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA, INCLUDED MOVC, INCLUDED
Hepatocellular carcinoma
OMIM - 601200 ;;PPB
Pleuropulmonary blastoma (PPB) Onset under 5 years; Association with other dysplasias, neoplasias, or malignancies Tumor lacks malignant epithelial elements
OMIM - 601363 ;;WT4;; FAMILIAL WILMS TUMOR 1; FWT1
Familial wilms tumor (WT) Average age of presentation 5 years Triphasic stromal, blastemal, and epithelial histology Autosomal dominant
OMIM - 601518 ;;PROSTATE CANCER SUSCEPTIBILITY 1; PCS1
Prostate cancer Autosomal dominant form
OMIM - 601606 ;;MFT ; TEM
Transformation of trichoepithelioma to basal cell carcinoma; ).
Occasional association with familial cylindromatosis (OMIM - 132700
OMIM - 601607 SUBFAMILY B, MEMBER 1; SMARCB1 ;;SNF5, YEAST, HOMOLOG OF SNF5;; INTEGRASE INTERACTOR 1; INI1;; MALIGNANT RHABDOID TUMOR SUPPRESSOR RHABDOID TUMOR, INCLUDED RDT, INCLUDED;; MALIGNANT RHABDOID TUMOR, INCLUDED MRT, INCLUDED;; BRAIN TUMOR, POSTERIOR FOSSA OF INFANCY, FAMILIAL, INCLUDED
Rhabdoid tumor Usual onset less than 2 years of age Frequent monsomy 22
OMIM - 601650 ;;GLOMUS TUMORS, FAMILIAL, 2
Familial nonchromaffin paragangliomas Earlier onset age in father-child pairs ? Autosomal dominant with maternal imprinting; genetic heterogeneity
OMIM - 601811
Osteosarcoma Microcephaly Round face; Flat nasal bridge Cataracts Low-set ears; Deformed ears Diabetes mellitus; Osteoporosis
OMIM - 601843 ;;SODIUM-IODIDE SYMPORTER NIS
Follicular adenoma of thyroid Parental consanguinity; Clinical and biologic response to potassium iodide treatment Iodide transport defect; Failure to concentrate radioiod
OMIM - 601894 ;;GFND ; GLOMERULAR NEPHRITIS, FAMILIAL, WITH FIBRONECTIN DEPOSITS ; FIBRONECTIN GLOMERULOPATHY
Renal cell carcinoma Huge glomerular electron-dense deposits containing 12-nm fibrils on EM
Anti-fibronectin antibody staining glomerular deposits; Proteinuria; Microscopic hema
OMIM - 601916 ARMET ;;ARGININE-RICH PROTEIN ARP
Frequent deletion in solid tumors; Specific mutation in some pancreatic cancers (e.g. .0001) Autosomal dominant
OMIM - 602084 ;;DEC
Endometrial carcinoma Loss of heterozygosity by deletion