Here I present: Victor McKusick, “Mendelian Inheritance in Man”, 1966. Chromosome #1.
REGION 1p3 TRAITS.
Cataracts.
Homocystinuria.
Malignant transformation suppression.
Neuroblastoma (neuroblastoma suppressor).
Hirschprung disease, cardiac defects.
Exostoses, multiple-like.
Schwartz-Jampel syndrome.
Opioid receptor.
Hypophosphatasia, infantile, childhood.
Hyperprolinemia, type II.
Breast cancer, ductal.
Bartter syndrome, type 3.
Cutaneous malignant melanoma / dysplasia nevus.
Prostate cancer.
P53-related protein.
Brain cancer.
Serotonin receptors.
Char-Marie-Tooth neuropathy.
Schnyder crystalline corneal dystrophy.
Muscular dystrophy, congenital.
Kostmann neutropenia.
REGION 1p2 TRAITS.
Erythrokeratodermia variability.
Oncogene MYC, lung carcinoma-derived.
Deafness, autosomal dominant and recessive.
Deafness, autosomal dominant.
Glucose transport defect, blood-brain barrier.
Porphyria.
Hypercholesterlemia, familial.
Epiphyseal dysplasia, multiple, type 2.
Neuropathy, paraneoplastic sensory.
Intervertebral disc disease.
Muscle-eye brain disease.
Lymphoma, non-Hodgkin.
Medulloblastoma.
Breast cancer, invasive intraductal.
Basal cell carcinoma.
Colon adenocarcinoma.
Corneal dystrophy, gelatinous drop-like.
Maple syrup urine disease, type II.
Leber congenital amaurosis.
Atrioventricular canal defect.
REGION 1p1 TRAITS.
Retinal dystrophy.
Fluorouracil toxicity, sensitivity to.
B-cell leukemia / lymphoma.
Zellweger syndrome.
Lymphoma, MALT and follicular.
Marshall syndrome.
Germ cell tumor.
Stargardt disease.
Sezary syndrome.
Retinitis pigmentosa.
Colon cancer.
Cone-rod dystrophy.
Neuroblastoma.
Macular dystrophy, age-related.
Glycogen storage disease.
Fundus flavimaculatus.
Osteopetrosis, autosomal dominant, type II.
Hypothyroidism, nongoitrous.
Waardenburg syndrome, type 2B.
Exostoses, multiple.
Vesicoureteral reflux.
REGION 1q1 TRAITS.
Pheochromocytoma.
Choreoathetosis / spasticity, episodic (paroxysmal).
Psoriasis susceptibility.
Hemochromatosis, type 2.
Limb-girdle muscular dystrophy, autosomal dominant.
Leukemia, acute.
Pycnodysostosis.
Gaucher disease.
Vohwinkel syndrome with Ichthyosis.
Medullary cystic kidney disease, autosomal dominant.
Erythrokeratoderma, progressive symmetric.
Renal cell carcinoma, papillary.
Anemia, hemolytic.
Insensitivity to pain, congenital, with anhidrosis.
Ellipticocytosis.
Medullary thyroid carcinoma.
Pyrpodysostosis.
Hyperlipidemia, familial combined.
Sperocytosis, recessive.
Hyperparathyroidism.
Schizophrenia.
REGION 1q2 TRAITS.
Lymphoma, progression of.
Lupus nephritis, susceptibility to.
Porphyria variegata.
Migraine, familial hemiplegic.
Hemorrhagic diathesis.
Emery-Dreifuss muscular dystrophy.
Thromboembolism susceptibility.
Cardiomyopathy, dilated.
Systemic lupus erythematosus, susceptibility.
Lipodystrophy, familial parietal.
Fish-odor syndrome.
Dejerine-Sottas disease, myelin P-related.
Prostate cancer, hereditary.
Hypomyelination, congenital.
Chronic granulomatous disease.
REGION 1q3 TRAITS.
Neutropenia, alloimmune neonatal.
Chitotriosidase deficiency.
Viral infections, recurrent.
Pseudohypoaldosteronism, type II.
Antithrombin III deficiency.
Hypokalemic periodic paralysis.
Atherosclerosis, susceptibility to.
Malignant hyperthermia susceptibility.
Glaucoma.
Glomerulopathy with fibronectin deposits.
Tumor potentiating region.
Metastasis suppressor.
Nephrotic syndrome.
Measles, susceptibility to.
Sjogren syndrome.
Van der Woude syndrome (lip pit syndrome).
Coagulation factor deficiency.
Rippling muscle disease.
Alzheimer disease.
Hypoparathyroidism-retardation-dysmorphism syndrome.
Cardiomyopathy.
REGION 1q4 TRAITS.
Ventricular tachycardia, stress-induced polymorphic.
Factor H deficiency.
Fumerase deficiency.
Membroproliferative glomerulonephritis.
Chediak-Higashi syndrome.
Hemolytic-uremic syndrome.
Muckle-Wells syndrome.
Nephropathy, chronic hypocomplementic.
Zellweger syndrome
Epidermolysis bullosa.
Adrenoleukodystrophy, neonatal.
Popliteala pterrygium syndrome.
Endometrial bleeding-associated factor.
Ectodermal dysplasia / skin fragility syndrome
Left-right axis malformation.
Usher syndrome, type 2A.
Prostate cancer, hereditary.
Kenny-Caffey syndrome.
Chondrodysplasia punctata, rhizomelic, type 2.
Diphenylhydantion toxicity,
