fenil210/Med-Lamma huggingface dataset:
How many people are affected by auriculo-condylar syndrome ?
Auriculo-condylar syndrome appears to be a rare disorder. More than two dozen affected individuals have been described in the medical literature. + GHR + auriculo-condylar syndrome
What are the genetic changes related to auriculo-condylar syndrome ?
Auriculo-condylar syndrome can be caused by mutations in either the GNAI3 or PLCB4 gene. These genes provide instructions for making proteins that are involved in chemical signaling within cells. They help transmit information from outside the cell to inside the cell, which instructs the cell to grow, divide, or take on specialized functions.  Studies suggest that the proteins produced from the GNAI3 and PLCB4 genes contribute to the development of the first and second pharyngeal arches, which are structures in the embryo that ultimately develop into the jawbones, facial muscles, middle ear bones, ear canals, outer ears, and related tissues. Mutations in these genes alter the formation of the lower jaw: instead of developing normally, the lower jaw becomes shaped more like the smaller upper jaw (maxilla). This abnormal shape leads to micrognathia and problems with TMJ function. Researchers are working to determine how mutations in these genes lead to the other developmental abnormalities associated with auriculo-condylar syndrome.  In some people with the characteristic features of auriculo-condylar syndrome, a mutation in the GNAI3 or PLCB4 gene has not been found. The cause of the condition is unknown in these individuals. + GHR + auriculo-condylar syndrome
Is auriculo-condylar syndrome inherited ?
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is typically sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.  Some people who have one altered copy of the GNAI3 or PLCB4 gene have no features related to auriculo-condylar syndrome. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene develop the condition and other people with a mutated gene do not. + GHR + auriculo-condylar syndrome
What are the treatments for auriculo-condylar syndrome ?
These resources address the diagnosis or management of auriculo-condylar syndrome:  - Genetic Testing Registry: Auriculocondylar syndrome 1  - Genetic Testing Registry: Auriculocondylar syndrome 2  - MedlinePlus Encyclopedia: Cleft Lip and Palate  - MedlinePlus Encyclopedia: Pinna Abnormalities and Low-Set Ears   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care + GHR + auriculo-condylar syndrome
What is (are) isobutyryl-CoA dehydrogenase deficiency ?
Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins. Normally, proteins from food are broken down into parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with IBD deficiency have inadequate levels of an enzyme that helps break down a particular amino acid called valine.  Most people with IBD deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition. A few children with IBD deficiency have developed features such as a weakened and enlarged heart (dilated cardiomyopathy), weak muscle tone (hypotonia), and developmental delay. This condition may also cause low numbers of red blood cells (anemia) and very low blood levels of carnitine, which is a natural substance that helps convert certain foods into energy. The range of signs and symptoms associated with IBD deficiency remains unclear because very few affected individuals have been reported. + GHR + isobutyryl-CoA dehydrogenase deficiency
How many people are affected by isobutyryl-CoA dehydrogenase deficiency ?
IBD deficiency is a rare disorder; approximately 22 cases have been reported in the medical literature. + GHR + isobutyryl-CoA dehydrogenase deficiency
What are the genetic changes related to isobutyryl-CoA dehydrogenase deficiency ?
Mutations in the ACAD8 gene cause IBD deficiency. This gene provides instructions for making the IBD enzyme, which is involved in breaking down valine. ACAD8 gene mutations reduce or eliminate the activity of the IBD enzyme. As a result, valine is not broken down properly. Impaired processing of valine may lead to reduced energy production and the features of IBD deficiency. + GHR + isobutyryl-CoA dehydrogenase deficiency
Is isobutyryl-CoA dehydrogenase deficiency inherited ?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. + GHR + isobutyryl-CoA dehydrogenase deficiency
What are the treatments for isobutyryl-CoA dehydrogenase deficiency ?
These resources address the diagnosis or management of isobutyryl-CoA dehydrogenase deficiency:  - Baby's First Test  - Genetic Testing Registry: Deficiency of isobutyryl-CoA dehydrogenase  - MedlinePlus Encyclopedia: Dilated Cardiomyopathy   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care + GHR + isobutyryl-CoA dehydrogenase deficiency
What is (are) Allan-Herndon-Dudley syndrome ?
Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before birth. Although affected males have impaired speech and a limited ability to communicate, they seem to enjoy interaction with other people.  Most children with Allan-Herndon-Dudley syndrome have weak muscle tone (hypotonia) and underdevelopment of many muscles (muscle hypoplasia). As they get older, they usually develop joint deformities called contractures, which restrict the movement of certain joints. Abnormal muscle stiffness (spasticity), muscle weakness, and involuntary movements of the arms and legs also limit mobility. As a result, many people with Allan-Herndon-Dudley syndrome are unable to walk independently and become wheelchair-bound by adulthood. + GHR + Allan-Herndon-Dudley syndrome
How many people are affected by Allan-Herndon-Dudley syndrome ?
Allan-Herndon-Dudley syndrome appears to be a rare disorder. About 25 families with individuals affected by this condition have been reported worldwide. + GHR + Allan-Herndon-Dudley syndrome
What are the genetic changes related to Allan-Herndon-Dudley syndrome ?
Mutations in the SLC16A2 gene cause Allan-Herndon-Dudley syndrome. The SLC16A2 gene, also known as MCT8, provides instructions for making a protein that plays a critical role in the development of the nervous system. This protein transports a particular hormone into nerve cells in the developing brain. This hormone, called triiodothyronine or T3, is produced by a butterfly-shaped gland in the lower neck called the thyroid. T3 appears to be critical for the normal formation and growth of nerve cells, as well as the development of junctions between nerve cells (synapses) where cell-to-cell communication occurs. T3 and other forms of thyroid hormone also help regulate the development of other organs and control the rate of chemical reactions in the body (metabolism).  Gene mutations alter the structure and function of the SLC16A2 protein. As a result, this protein is unable to transport T3 into nerve cells effectively. A lack of this critical hormone in certain parts of the brain disrupts normal brain development, resulting in intellectual disability and problems with movement. Because T3 is not taken up by nerve cells, excess amounts of this hormone continue to circulate in the bloodstream. Increased T3 levels in the blood may be toxic to some organs and contribute to the signs and symptoms of Allan-Herndon-Dudley syndrome. + GHR + Allan-Herndon-Dudley syndrome
Is Allan-Herndon-Dudley syndrome inherited ?
This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. She can pass on the mutated gene, but usually does not experience signs and symptoms of the disorder. Carriers of SLC16A2 mutations have normal intelligence and do not experience problems with movement. Some carriers have been diagnosed with thyroid disease, a condition which is relatively common in the general population. It is unclear whether thyroid disease is related to SLC16A2 gene mutations in these cases. + GHR + Allan-Herndon-Dudley syndrome
What are the treatments for Allan-Herndon-Dudley syndrome ?
These resources address the diagnosis or management of Allan-Herndon-Dudley syndrome:  - Gene Review: Gene Review: MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency  - Genetic Testing Registry: Allan-Herndon-Dudley syndrome  - MedlinePlus Encyclopedia: Intellectual Disability  - MedlinePlus Encyclopedia: T3 Test   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care + GHR + Allan-Herndon-Dudley syndrome
What is (are) Manitoba oculotrichoanal syndrome ?
Manitoba oculotrichoanal syndrome is a condition involving several characteristic physical features, particularly affecting the eyes (oculo-), hair (tricho-), and anus (-anal).  People with Manitoba oculotrichoanal syndrome have widely spaced eyes (hypertelorism). They may also have other eye abnormalities including small eyes (microphthalmia), a notched or partially absent upper eyelid (upper eyelid coloboma), eyelids that are attached to the front surface of the eye (corneopalpebral synechiae), or eyes that are completely covered by skin and usually malformed (cryptophthalmos). These abnormalities may affect one or both eyes.  Individuals with Manitoba oculotrichoanal syndrome usually have abnormalities of the front hairline, such as hair growth extending from the temple to the eye on one or both sides of the face. One or both eyebrows may be completely or partially missing. Most people with this disorder also have a wide nose with a notched tip; in some cases this notch extends up from the tip so that the nose appears to be divided into two halves (bifid nose).  About 20 percent of people with Manitoba oculotrichoanal syndrome have defects in the abdominal wall, such as a soft out-pouching around the belly-button (an umbilical hernia) or an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel. Another characteristic feature of Manitoba oculotrichoanal syndrome is a narrow anus (anal stenosis) or an anal opening farther forward than usual. Umbilical wall defects or anal malformations may require surgical correction. Some affected individuals also have malformations of the kidneys.  The severity of the features of Manitoba oculotrichoanal syndrome may vary even within the same family. With appropriate treatment, affected individuals generally have normal growth and development, intelligence, and life expectancy. + GHR + Manitoba oculotrichoanal syndrome
How many people are affected by Manitoba oculotrichoanal syndrome ?
Manitoba oculotrichoanal syndrome is estimated to occur in 2 to 6 in 1,000 people in a small isolated Ojibway-Cree community in northern Manitoba, Canada. Although this region has the highest incidence of the condition, it has also been diagnosed in a few people from other parts of the world. + GHR + Manitoba oculotrichoanal syndrome
What are the genetic changes related to Manitoba oculotrichoanal syndrome ?
Manitoba oculotrichoanal syndrome is caused by mutations in the FREM1 gene. The FREM1 gene provides instructions for making a protein that is involved in the formation and organization of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues.  The FREM1 protein is one of a group of proteins, including proteins called FRAS1 and FREM2, that interact during embryonic development as components of basement membranes. Basement membranes help anchor layers of cells lining the surfaces and cavities of the body (epithelial cells) to other embryonic tissues, including those that give rise to connective tissues such as skin and cartilage.  The FREM1 gene mutations that have been identified in people with Manitoba oculotrichoanal syndrome delete genetic material from the FREM1 gene or result in a premature stop signal that leads to an abnormally short FREM1 protein. These mutations most likely result in a nonfunctional protein.  Absence of functional FREM1 protein interferes with its role in embryonic basement membrane development and may also affect the location, stability, or function of the FRAS1 and FREM2 proteins. The features of Manitoba oculotrichoanal syndrome may result from the failure of neighboring embryonic tissues to fuse properly due to impairment of the basement membranes' anchoring function. + GHR + Manitoba oculotrichoanal syndrome
Is Manitoba oculotrichoanal syndrome inherited ?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. + GHR + Manitoba oculotrichoanal syndrome
What are the treatments for Manitoba oculotrichoanal syndrome ?
These resources address the diagnosis or management of Manitoba oculotrichoanal syndrome:  - Gene Review: Gene Review: Manitoba Oculotrichoanal Syndrome  - Genetic Testing Registry: Marles Greenberg Persaud syndrome  - MedlinePlus Encyclopedia: Omphalocele Repair   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care + GHR + Manitoba oculotrichoanal syndrome
What is (are) juvenile Paget disease ?
Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured).  The signs of juvenile Paget disease appear in infancy or early childhood. As bones grow, they become progressively weaker and more deformed. These abnormalities usually become more severe during the adolescent growth spurt, when bones grow very quickly.  Juvenile Paget disease affects the entire skeleton, resulting in widespread bone and joint pain. The bones of the skull tend to grow unusually large and thick, which can lead to hearing loss. The disease also affects bones of the spine (vertebrae). The deformed vertebrae can collapse, leading to abnormal curvature of the spine. Additionally, weight-bearing long bones in the legs tend to bow and fracture easily, which can interfere with standing and walking. + GHR + juvenile Paget disease
How many people are affected by juvenile Paget disease ?
Juvenile Paget disease is rare; about 50 affected individuals have been identified worldwide. + GHR + juvenile Paget disease
What are the genetic changes related to juvenile Paget disease ?
Juvenile Paget disease is caused by mutations in the TNFRSF11B gene. This gene provides instructions for making a protein that is involved in bone remodeling, a normal process in which old bone is broken down and new bone is created to replace it.  Bones are constantly being remodeled, and the process is carefully controlled to ensure that bones stay strong and healthy. Mutations in the TNFRSF11B gene lead to a much faster rate of bone remodeling starting early in life. Bone tissue is broken down more quickly than usual, and when new bone tissue grows it is larger, weaker, and less organized than normal bone. This abnormally fast bone remodeling underlies the problems with bone growth characteristic of juvenile Paget disease. + GHR + juvenile Paget disease
Is juvenile Paget disease inherited ?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. + GHR + juvenile Paget disease
What are the treatments for juvenile Paget disease ?
These resources address the diagnosis or management of juvenile Paget disease:  - Genetic Testing Registry: Hyperphosphatasemia with bone disease   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care + GHR + juvenile Paget disease
What is (are) autosomal recessive primary microcephaly ?
Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. The term "microcephaly" comes from the Greek words for "small head."  Infants with MCPH have an unusually small head circumference compared to other infants of the same sex and age. Head circumference is the distance around the widest part of the head, measured by placing a measuring tape above the eyebrows and ears and around the back of the head. Affected infants' brain volume is also smaller than usual, although they usually do not have any major abnormalities in the structure of the brain. The head and brain grow throughout childhood and adolescence, but they continue to be much smaller than normal.  MCPH causes intellectual disability, which is typically mild to moderate and does not become more severe with age. Most affected individuals have delayed speech and language skills. Motor skills, such as sitting, standing, and walking, may also be mildly delayed.  People with MCPH usually have few or no other features associated with the condition. Some have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family. The condition typically does not affect any other major organ systems or cause other health problems. + GHR + autosomal recessive primary microcephaly
How many people are affected by autosomal recessive primary microcephaly ?
The prevalence of all forms of microcephaly that are present from birth (primary microcephaly) ranges from 1 in 30,000 to 1 in 250,000 newborns worldwide. About 200 families with MCPH have been reported in the medical literature. This condition is more common in several specific populations, such as in northern Pakistan, where it affects an estimated 1 in 10,000 newborns. + GHR + autosomal recessive primary microcephaly
What are the genetic changes related to autosomal recessive primary microcephaly ?
MCPH can result from mutations in at least seven genes. Mutations in the ASPM gene are the most common cause of the disorder, accounting for about half of all cases.  The genes associated with MCPH play important roles in early brain development, particularly in determining brain size. Studies suggest that the proteins produced from many of these genes help regulate cell division in the developing brain.  Mutations in any of the genes associated with MCPH impair early brain development. As a result, affected infants have fewer nerve cells (neurons) than normal and are born with an unusually small brain. The reduced brain size underlies the small head size, intellectual disability, and developmental delays seen in many affected individuals. + GHR + autosomal recessive primary microcephaly
Is autosomal recessive primary microcephaly inherited ?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. + GHR + autosomal recessive primary microcephaly
What are the treatments for autosomal recessive primary microcephaly ?
These resources address the diagnosis or management of MCPH:  - Gene Review: Gene Review: Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders  - Genetic Testing Registry: Primary autosomal recessive microcephaly 1  - Genetic Testing Registry: Primary autosomal recessive microcephaly 2  - Genetic Testing Registry: Primary autosomal recessive microcephaly 3  - Genetic Testing Registry: Primary autosomal recessive microcephaly 4  - Genetic Testing Registry: Primary autosomal recessive microcephaly 5  - Genetic Testing Registry: Primary autosomal recessive microcephaly 6  - Genetic Testing Registry: Primary autosomal recessive microcephaly 7  - MedlinePlus Encyclopedia: Head Circumference   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care + GHR + autosomal recessive primary microcephaly
What is (are) multiple epiphyseal dysplasia ?
Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with multiple epiphyseal dysplasia have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood.  Recessive multiple epiphyseal dysplasia is distinguished from the dominant type by malformations of the hands, feet, and knees and abnormal curvature of the spine (scoliosis). About 50 percent of individuals with recessive multiple epiphyseal dysplasia are born with at least one abnormal feature, including an inward- and upward-turning foot (clubfoot), an opening in the roof of the mouth (cleft palate), an unusual curving of the fingers or toes (clinodactyly), or ear swelling. An abnormality of the kneecap called a double-layered patella is also relatively common. + GHR + multiple epiphyseal dysplasia
How many people are affected by multiple epiphyseal dysplasia ?
The incidence of dominant multiple epiphyseal dysplasia is estimated to be at least 1 in 10,000 newborns. The incidence of recessive multiple epiphyseal dysplasia is unknown. Both forms of this disorder may actually be more common because some people with mild symptoms are never diagnosed. + GHR + multiple epiphyseal dysplasia