Emerging Diseases
Diseases that are in the process of being officially classified.
As more information becomes available about rare diseases, the number of officially recognized rare diseases increases. Up until 2020, the estimate of the number of individual rare diseases was often cited as between 5,000 and 8,000, depending on the source.
However, the official number of rare diseases is now believed to be more than 10,000.[1] There are also some rare diseases which currently may not have a formal name; these diseases may typically be referred to by a variant in a gene. We acknowledge these rare and ultra-rare diseases as “emerging diseases” and strongly advocate for them to be recognized, counted and supported.
It may take several years for a rare disease to be officially classified in medical databases and be given a formal disease name. While these emerging diseases are going through this process, it is important that we acknowledge the debilitating impacts they have on patients, families and care partners. Global Genes champions all rare diseases and for this reason, we have created the list of emerging diseases below.
| Gene | Symptoms |
| SLC6A1 | SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) is characterized by mild-to-severe developmental delay and/or intellectual disability, hypotonia, epilepsy, movement disorders (e.g., tremor, stereotypies, ataxia), and neurobehavioral and/or psychiatric manifestations (e.g., autism spectrum disorder, attention-deficit/hyperactivity disorder, aggression, anxiety, and/or sleep disturbances). Language skills, particularly expressive language, are often more significantly affected than motor development. Developmental regression has been reported. Gastrointestinal manifestations (e.g., constipation, diarrhea) are also common. |
| HUWE1 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE: Affected individuals show global developmental delay from infancy, with variably impaired intellectual development and poor or absent speech, often with delayed walking. Dysmorphic features are common and can include macrocephaly, microcephaly, deep-set eyes, hypotelorism, small palpebral fissures, dysplastic, large, or low-set ears, long face, bitemporal narrowing, high-arched palate, thin upper lip, and scoliosis or mild distal skeletal anomalies, such as brachydactyly or tapered fingers. Males tend to have cryptorchidism. Other features, such as hypotonia, seizures, and delayed bone age, are more variable |
| DEAF1 | Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures (NEDHELS) is an autosomal recessive disorder characterized by hypotonia, poor feeding, and global developmental delay apparent from infancy. Most patients have poor overall growth, poor eye contact, sleep disturbances, and severely impaired expressive language. Affected individuals also tend to have behavioral problems, microcephaly, and variable dysmorphic features; many develop seizures. Brain imaging may show enlarged ventricles, thin corpus callosum and brainstem, and white matter abnormalities. The phenotype is variable. |
| UBA5 | Variants in UBA5 have been reported to cause developmental and epileptic encephalopathy-44 (DEE44)which is an autosomal recessive neurologic disorder characterized by refractory infantile spasms or myoclonus, impaired motor function, developmental delay, intellectual disability and brain pathology. |
| SLC13A5 | SLC13A5 has symptoms of Frequent seizures (up to 100s daily), Prolonged seizures (lasting minutes or hours), Movement and balance problems, Behavioral and developmental delays, Severe difficulty with speech production with better ability to understand language, Sleeping difficulties,Eating difficulties. |
If you don’t see a condition listed above, please check the RARE List.