Rare Genetic Disorders Index

In Advocacy by Cameron

There are over 6,000 diseases that are currently classified as rare, and that number is constantly growing. One of the biggest hurdles to the diagnosis and treatment for the millions of people with rare diseases is awareness of these rare diseases. Lack of awareness is a problem apparent amongst researchers and medical professionals as well as patients and carers.

Tomorrow, Friday 25th April, is Undiagnosed Children’s Awareness Day 2014, and to celebrate and continue their mission to improve understanding and awareness of thousands of rare diseases, the Rare genomics Institute has published a fantastic ebook covering many aspects of the rare disease industry and the journeys of patients, from symptoms to treatment.

Part of the ebook is dedicated to providing an accessible index of genetic rare disease, with diseases split into categories, along with information about therapy options, prevalence and diagnostics.

To find out more about current research and development for specific diseases, click on the disease in the ‘diseases’ catagory.


Description Diseases Incidence Diagnostics Therapies
Blood Disorders and Immune-deficiencies Diseases that result in the absence or dysfunction of the different types of cells and factors in the blood (e.g. red blood cells, white blood cells, platelets, coagulation factors) Sickle Cell Anemia, Hereditary Spherocytosis, Hemophilia, Thalassemia, Von Willebrand disease, Thrombophilia, Combined immune-deficiencies, Hypogamma-globulinemia, McLeod syndrome 1 in 5000 in the U.S. (Sickle cell anemia). 1 in 600 African-American infants (Sickle Cell Anemia). 1 in 5000 in the U.S. (Hereditary Spherocytosis). Genetic testing, blood smear, antigen assay, collagen binding assay, blood count, bleeding time, platelet count, pro- thrombin time Blood transfusion, bone marrow or cord blood transplants, hydroxyurea, folic acid, analgesics, oxygen supplementation
Chromosomal Caused by chromosomal alterations (deletions, amplifications, duplications, etc.). Down syndrome (Trisomy 21), Wolf–Hirschhorn syndrome, Velocardiofacial syndrome, Trisomy 18, Trisomy 13, Cri-du-chat, Williams syndrome, DiGeorge syndrome 1 in 1,000 births (Down syndrome). 1 in ~3000 live births (DiGeorge syndrome). 1 in ~40,000 births (Cri-du-chat). Chromosomal karyotype, ultrasound, blood-based bio-markers, chorionic villus sampling (CVS), amniocentesis, analysis of circulating fetal DNA. Symptom based therapy. Supportive therapy, occupational therapy, physical therapy, speech-language therapy
Cognitive and Developmental Category of diseases that primarily affect learning, memory, perception, and problem solving, social ability, communication, intellectual ability, and restricted, repetitive, and stereotyped patterns of behavior. Autism and autism spectrum disorders (may or may not include intellectual disability), Fragile X syndrome, other syndromic and non-syndromic intellectual disabilities. Older criteria included Asperger syndrome and pervasive developmental disorder not otherwise specified (PDD-NOS). 1 in 88 births in the U.S. (Autism). 1 in 4,000 males and 1 in 8,000 females (Fragile X Syndrome). Frequency of intellectual disabilities of all degrees ranges from 1-3% of the population. Genetic testing, Southern blot analysis test, polymerase chain reaction (PCR) analysis, physician assessment based on standard criteria. Supportive therapy, applied behavior analysis (ABA), medications, occupational therapy, physical therapy, speech-language therapy, pharmacotherapy
Connective Tissue Alterations in these genes may change the structure and development of skin, bones, joints, the heart, blood vessels, lungs, eyes, and ears. Marfan syndrome, Ehlers-Danlos syndrome, Loeys–Dietz syndrome, Epidermolysis Bullosa, Alport syndrome, Stickler syndrome, Congenital contractural arachnodactyly (Beal’s syndrome) 1 in 5,000 to 10,000 (Marfan syndrome) ~50 in 1 million live births (Epidermolysis Bullosa), 1 in 5,000 people (Erhlers-Danlos syndrome) Genetic testing, clinical presentation, collagen typing via skin biopsy, echocardiogram, and lysyl hydroxylase or oxidase activity. Pharmacotherapy (e.g. beta-blockers, losartan, analgesics), symptom treatment, brace for scoliosis, surgery to repair aorta, eye surgery
Skeletal A subset of connective tissue disorders that include rare heritable diseases that affect bones and/or joints. Achondroplasia, Spina Bifida, Treacher Collins syndrome, McCune–Albright syndrome, Hypophosphatasia, Osteogenesis imperfect. 1 in 25,000 (Achondroplasia) 1 case for every 20,000 live births (Osteogenesis Imperfecta) Genetic testing. Clinical presentation, SDS-PAGE, Cyanogen bromide (CNBr) mapping, thermal stability studies Surgery, supportive orthopedic, somatotropin (recombinant human growth hormone), nutritional counseling
Epigenetic Epigenetics involves genetic control by factors other than an individual’s DNA sequence. One type is imprinting, where certain genes are expressed in a parent-of-origin-specific manner. Prader Willi syndrome, Angelman syndrome, Beckwith-Wiedemann syndrome, Silver-Russell syndrome Between 1 in 10,000 to 1 in 25,000 births (Prader Willi syndrome). Between 1 in 50,000 to 1 in 100,000 births (Silver-Russell syndrome) Genetic testing (DNA-based methylation testing), clinician assessment, high resolution chromosomal analysis (HRCA), fluorescence in situ hybridization (FISH) Physical therapy, growth hormones, supportive therapy, physical therapy, behavioral therapy, sleep treatment, pharmacotherapy
Endocrine The endocrine system is a complex collection of hormone-producing glands that control basic body functions such as growth and sexual development. Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency, McCune-Albright syndrome, Kallmann syndrome, 21-hydroxylase deficiency Up to 1 in 100,000 – 200,000 births (CAH). 1-10 in 1 million population (McCune-Albright syndrome) Genetic testing, kidney function testing, steroid assays, cortisol, aldosterone, serum electrolytes Steroids or hormonal supplementation, fertility treatments, pharmacotherapy, surgery
Metabolic Inherited conditions that result in dysfunctional metabolism, which involves the chemical reactions in the body to convert or use energy. Most are due to an enzyme deficiency. Phenylketonuria (PKU), Maple syrup urine disease (MSUD), Smith–Lemli–Opitz syndrome, Lesch-Nyhan syndrome, medium chain Co-A dehydrogenase deficiency, galactosemia 1 in 15,000 births in the U.S. (PKU). 1 in 180,000 births in the U.S. (MSUD). 1 in 380,000 population (Lesch-Nyhan syndrome). Genetic sequencing, enzyme assay, analyte assay, amino acid analysis via ion exchange/ gas chromatography or tandem mass spectro-metry Dietary changes, pharmacotherapy, enzyme replacement, bone marrow or organ transplant, behavioral management, ortho-pedic intervention
Lysosomal Storage Disorders A subset of metabolic disorders that specifically have dysfunction in the lysosome, which are organelles in the cells that break down waste products of metabolism. Hurler syndrome, Sanfilippo syndrome, and other MPS syndromes, Niemann-Pick disease, Tay-Sachs disease, Gaucher disease, Fabry disease, Krabbe disease, Pompe disease 1 in 25,000 births in the U.S. (MPS syndromes) 1 case per 40,000 population (Pompe Disease) Genetic sequencing, enzyme assay, quantitative and fractionation test via electrophoresis or chromatography. Enzyme replacement, bone marrow or organ transplantation, symptomatic therapy, pharmacotherapy, physical therapy.
Neurological Neurological disorders include seizures, sleep disorders, trauma, infections, movement disorders and spinal cord injuries Microcephaly, Huntington disease, Aicardi syndrome, Severe myoclonic epilepsy in infancy (Dravet syndrome), Lennox Gastaut syndrome, Landau-Kleffner syndrome (LKS), Infantile Spasm (West Syndrome), Early infantile epileptic encephalopathy (Ohtahara syndrome) 1 in ~10,000 (genetic epilepsy) 1 in ~30,000 (Dravet syndrome) 1 per ~4000 live births (Lennox-Gastaut Syndrome) 900 cases reported in the U.S. (Aicardi syndrome) Head circumference, genetic testing, triplet repeat testing, complete blood count, electrolytes, glucose, urine organic acids, hepatic enzymes, creatine kinase, serum amino acids, endocrine tests, cerebrospinal fluid evaluation Pharmacotherapy, hormone therapy, physical therapy, nutritional therapy (e.g. ketogenic), intravenous immunoglobulin (IVIG)
Neuromuscular Neuromuscular disorders affect the nerves that control voluntary muscles including arms and legs. They may also affect heart muscle. Dystonias (including Generalized, Focal, Segmental), Muscular dystrophies (including Duchenne, Becker’s, Limb-girdle, congenital, facioscapulohumeral, oculopharyngeal, distal, and Emery-Dreifuss) 1 in 3500 live male births (Duchenne). 1 in 30,000 live male births (Becker’s). Genetic testing, Magnetic resonance imaging (MRI) and computed tomography (CT) scanning of the brain, blood chemistries, liver functions, ceruloplasmin levels Physical therapy, supportive therapy, muscle relaxants, surgery, nutritional therapy, pharmaco-therapy, neurochemo-lytic interventions, deep brain stimulation
Respiratory Diseases that affect the lung and respiration. Cystic fibrosis, alpha-1 antitrypsin deficiency, interstitial lung disease, pulmonary arterial hypertension 1 in 3,200 births in the U.S. (Cystic fibrosis) 1 in ~4,000 in U.S. European ancestry (alpha-1 antitrypsin deficiency) Genetic testing, lung function testing, serum alpha1-antitrypsin levels, functional assay, hepatic function Supportive therapy, antibiotics, pharmacotherapy, gene therapy, surgery, dietary changes