![]() ![]() Orphanet is an online database of rare diseases and orphan drugs. Reference: Access aggregated data from Orphanet at Orphadata.Reference: UMLS Vocabulary Standards and Mappings Downloadsĭata from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.The National Library of Medicine's Unified Medical Language System (UMLS) is used to classify and organize diseases and disease categories. When two carriers of an autosomal recessive disease have children, there is a 25% (1 in 4) chance to have a child who has the disease. Carriers of an autosomal recessive disease usually do not have any symptoms of the disease. Each parent is a carrier which means they have a pathogenic variant in only one copy of the gene. Mutation is an older term that is still sometimes used to mean pathogenic variant.Ī person who has an autosomal recessive disease receives a gene with a pathogenic variant from each of their parents. Recessive means that both copies of the responsible gene must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Genes, like chromosomes, usually come in pairs. Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Sources to Learn More: What Is a Gene? (MedlinePlus) What Are Proteins and What Do They Do? (MedlinePlus)Īutosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Sources to Learn More: What Is a Gene? (MedlinePlus) What Are Proteins and What Do They Do? (MedlinePlus) Understanding what genes are and how changes in genes may affect the body can help you on the journey to diagnosis and treatment of a genetic disease. Others make RNA molecules that are involved in chemical reactions in the body. Some genes can turn other genes on or off. Proteins are needed for the structure, function, and regulation of the body's cells, tissues, and organs. Some genes serve as the instructions to make proteins. ![]() ![]() DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins.Įach gene performs a different job in our cells. Cells are the building blocks of all living things and specialized cells form our body's organs and tissues. Genes are part of our DNA, the basic genetic material found in each of our body's cells. Understanding what genes are and how changes in genes may affect the body can help you on the journey to diagnosis and treatment of a genetic disease. Excessive skin wrinkling on dorsum of hands and fingers Abnormality of the cheek Broad nasal tip Carious teeth Congenital hip dislocation Coxa vara Cryptorchidism Cutis laxa Decreased muscle mass Deep palmar crease Deep plantar creases Delayed closure of the anterior fontanelle Delayed eruption of teeth Delayed speech and language development Downslanted palpebral fissures Epicanthus Excessive wrinkled skin Failure to thrive Fragmented elastic fibers in the dermis Generalized joint laxity Global developmental delay High myopia High palate Hypertelorism Infantile muscular hypotonia Inguinal hernia Intrauterine growth retardation Kyphoscoliosis Lipodystrophy Long philtrum Low-set ears Multiple palmar creases Multiple plantar creases Nasal speech Osteopenia Pectus excavatum Pes planus Postnatal growth retardation Premature rupture of membranes Progressive microcephaly Prominent nasolabial fold Prominent veins on trunk Recurrent sinopulmonary infections Short stature Slender long bones with narrow diaphyses Small, conical teeth Smooth philtrum Sparse hair Thick cerebral cortex Umbilical hernia Wormian bones Atrial septal dilatation Cerebellar vermis hypoplasia Dandy-Walker malformation Progressive cerebellar ataxia Slurred speech Status epilepticus Abnormality of the intrinsic pathway Emphysema ![]()
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