Table 1 Example multiplex disease communities where monogenic disorders were grouped together with the complex diseases for which they increase risk (Communities 12, 16, 21, and 22), and Mendelian diseases with severe phenotypes were found in smaller communities (Communities 31, 40, 73, and 82)
Multiplex disease community # | Diseases |
|---|---|
12 | asphyxiating thoracic dystrophy, autistic disorder, Bardet-Biedl syndrome, erythropoietic protoporphyria, generalized epilepsy with febrile seizures plus, glycogen storage disease IV, hypermethioninemia, Joubert syndrome, Meckel syndrome, nephronophthisis, nephrotic syndrome, orofaciodigital syndrome, renal-hepatic-pancreatic dysplasia, Senior-Loken syndrome, thrombophilia, triple-A syndrome |
16 | basal cell carcinoma, breast cancer, Denys-Drash syndrome, desmoplastic medulloblastoma, Fanconi’s anemia, Frasier syndrome, hereditary breast ovarian cancer, holoprosencephaly, malignant mesothelioma, medulloblastoma, nephroblastoma, nephrotic syndrome, nevoid basal cell carcinoma syndrome, pancreatic cancer |
21 | alcohol dependence, cerebrovascular disease, DiGeorge syndrome, essential hypertension, factor V deficiency, factor XIII deficiency, Hermansky-Pudlak syndrome, homocystinuria, panic disorder, prothrombin deficiency, schizophrenia, thrombophilia |
22 | cataract, diabetic ketoacidosis, Donohue Syndrome, hyperinsulinemic hypoglycemia, maturity-onset diabetes of the young, nonpapillary renal cell carcinoma, pancreatic agenesis, renal cell carcinoma, type 1 diabetes mellitus, type 2 diabetes mellitus, Wolfram syndrome |
31 | achondrogenesis type IB, atelosteogenesis, Beare-Stevenson cutis gyrata syndrome, Boomerang dysplasia, diastrophic dysplasia, Larsen syndrome, multiple epiphyseal dysplasia, osteoarthritis, pseudoachondroplasia |
40 | cardiofaciocutaneous syndrome, Coffin-Lowry syndrome, cutaneous porphyria, fragile X syndrome, non-syndromic X-linked intellectual disability, Rett syndrome, Smith-Lemli-Opitz syndrome |
73 | bronchiectasis, Camurati-Engelmann disease, cystic fibrosis, Liddle syndrome |
82 | glycine encephalopathy, Pfeiffer syndrome, Rubinstein-Taybi syndrome |
