Tumor Predisposition Syndrome 1 |
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Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Lung Cancer |
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Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Li-Fraumeni Syndrome |
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Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
N Syndrome |
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Cryptorchidism, Leukemia, Neoplasm, Abnormality of chromosome stability |
OMIM:310465 |
Fanconi Anemia, Complementation Group G |
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Abnormality of chromosome stability, Leukemia, Myelodysplasia |
OMIM:614082 |
Bazex Syndrome |
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Neoplasm, Lung adenocarcinoma, Liposarcoma |
ORPHA:166113 |
Fanconi Renotubular Syndrome 5 |
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Emphysema, Lung adenocarcinoma, Pulmonary fibrosis |
OMIM:618913 |
Asbestos Intoxication |
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Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
Fanconi Anemia, Complementation Group D1 |
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Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... |
OMIM:605724 |
Mosaic Variegated Aneuploidy Syndrome 4 |
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Abnormality of chromosome stability |
OMIM:620153 |
Ataxia-Telangiectasia |
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Elevated hepatic transaminase, Recurrent respiratory infections, Abnormality of chromosome stabil... |
ORPHA:100 |
Fanconi Anemia, Complementation Group T |
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Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
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Abnormality of chromosome stability |
OMIM:600546 |
Immunodeficiency 54 |
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Chromosome breakage, Lymphoproliferative disorder, Recurrent respiratory infections, Hepatomegaly |
OMIM:609981 |
Fraxf Syndrome |
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Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
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Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
Nijmegen Breakage Syndrome-Like Disorder |
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Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Fanconi Anemia, Complementation Group S |
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Chromosome breakage, Ovarian carcinoma, Breast carcinoma, Ovarian neoplasm |
OMIM:617883 |
Adrenocortical Carcinoma |
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Adrenocortical carcinoma, Lung adenocarcinoma |
ORPHA:1501 |
Lig4 Syndrome |
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Hepatomegaly, Abnormality of chromosome stability, Cryptorchidism, Lymphoma, Acute leukemia |
ORPHA:99812 |
Fanconi Anemia, Complementation Group N |
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Nephroblastoma, Medulloblastoma, Neuroblastoma, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Fragile X Syndrome |
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Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism |
OMIM:300624 |
Transcobalamin Deficiency |
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Abnormality of chromosome stability |
ORPHA:859 |
Fanconi Anemia, Complementation Group O |
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Cryptorchidism, Chromosome breakage |
OMIM:613390 |
Bloom Syndrome |
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Chromosome breakage, Abnormality of chromosome stability, Cryptorchidism, Lymphoma, Recurrent upp... |
OMIM:210900 |
Legius Syndrome |
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Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Scleroderma, Familial Progressive |
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Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Fanconi Anemia, Complementation Group E |
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Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dim... |
OMIM:600901 |
Fragile X Syndrome |
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Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Fanconi Anemia, Complementation Group P |
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Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Squamous cell carcinoma |
OMIM:613951 |
Fanconi Anemia, Complementation Group A |
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Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dim... |
OMIM:227650 |
Fanconi Anemia, Complementation Group J |
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Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Dermatomyositis |
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Recurrent respiratory infections, Gastrointestinal stroma tumor, Lymphoma, Abnormal pulmonary int... |
ORPHA:221 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
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Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Opsoclonus-Myoclonus Syndrome |
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Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Cancer-Associated Retinopathy |
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Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Radial-Renal Syndrome |
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Chromosome breakage |
OMIM:179280 |
Fanconi Anemia, Complementation Group C |
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Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dim... |
OMIM:227645 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Fanconi Anemia, Complementation Group Q |
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Chromosome breakage, Biliary atresia |
OMIM:615272 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Cryptorchidism, Chromosome breakage |
OMIM:617052 |
Nijmegen Breakage Syndrome |
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Recurrent sinopulmonary infections, Abnormality of chromosome stability, Recurrent respiratory in... |
ORPHA:647 |
Fanconi Anemia, Complementation Group D2 |
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Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dim... |
OMIM:227646 |
Fanconi Anemia, Complementation Group V |
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Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Icf Syndrome |
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Recurrent respiratory infections, Abnormality of chromosome stability |
ORPHA:2268 |
Fanconi Anemia, Complementation Group B |
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Abnormality of chromosome stability, Abnormal lung lobation |
OMIM:300514 |
Fanconi Anemia, Complementation Group I |
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Chromosomal breakage induced by crosslinking agents |
OMIM:609053 |
Fanconi Anemia, Complementation Group F |
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Cryptorchidism, Pneumonia, Chromosomal breakage induced by crosslinking agents |
OMIM:603467 |
Lambert-Eaton Myasthenic Syndrome |
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Small cell lung carcinoma |
ORPHA:43393 |
Fanconi Anemia, Complementation Group U |
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Chromosome breakage |
OMIM:617247 |
Fanconi Anemia, Complementation Group R |
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Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Chromosomal breakage induced by crosslinking agents |
OMIM:620133 |
Riddle Syndrome |
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Pneumonia, Bronchitis, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Chromosom... |
ORPHA:420741 |
Fanconi Anemia, Complementation Group L |
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Chromosome breakage, Chromosomal breakage induced by crosslinking agents |
OMIM:614083 |
Fanconi Anemia |
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Abnormality of chromosome stability, Myelodysplasia, Cryptorchidism, Azoospermia, Abnormality of ... |
ORPHA:84 |
Cartilage-Hair Hypoplasia |
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Hepatomegaly, Abnormality of chromosome stability |
ORPHA:175 |
Meningioma |
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Neoplasm of the anterior pituitary, Neurofibroma, Chromosomal breakage induced by ionizing radiat... |
ORPHA:2495 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Pancreatic adenocarcinoma, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of t... |
ORPHA:99889 |
Revesz Syndrome |
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Abnormality of chromosome stability |
OMIM:268130 |
Sotos Syndrome |
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Sacrococcygeal teratoma, Astrocytoma, Cryptorchidism, Small cell lung carcinoma, Hydrocele testis... |
ORPHA:821 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
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Decreased mitochondrial number |
ORPHA:352470 |
Seckel Syndrome 8 |
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OMIM:615807 |
Seckel Syndrome |
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ORPHA:808 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
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OMIM:615156 |