fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Autosomal recessive nonsyndromic congenital nuclear cataract ?
What are the signs and symptoms of Autosomal recessive nonsyndromic congenital nuclear cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive nonsyndromic congenital nuclear cataract. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cataract - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Autosomal recessive nonsyndromic congenital nuclear cataract
What are the symptoms of Aniridia absent patella ?
What are the signs and symptoms of Aniridia absent patella? The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia absent patella. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the iris 90% Patellar aplasia 90% Cataract 50% Cryptorchidism 50% Glaucoma 50% Hernia of the abdominal wall 50% Muscular hypotonia 50% Ptosis 50% Aniridia - Aplasia/Hypoplasia of the patella - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Aniridia absent patella
What is (are) Ehlers-Danlos syndrome ?
Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that is caused by abnormalities in the structure, production, and/or processing of collagen. There are 6 major forms of EDS: hypermobility type, classic type, vascular type, kyphoscoliosis type, arthrochalasia type, and dermatosparaxis type. Although other forms of the condition exist, they are extremely rare and are not well-characterized. The signs and symptoms of EDS vary by type and range from mildly loose joints to life-threatening complications. Features shared by many types include joint hypermobility and soft, velvety skin that is highly elastic (stretchy) and bruises easily. Changes (mutations) in a variety of genes may lead to EDS; however, the underlying genetic cause in some families is unknown. Depending on the subtype, EDS may be inherited in an autosomal dominant or an autosomal recessive manner. There is no specific cure for EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. + GARD + Ehlers-Danlos syndrome
What are the symptoms of Ehlers-Danlos syndrome ?
What are the signs and symptoms of Ehlers-Danlos syndrome? There are six major types of Ehlers-Danlos syndrome (EDS). Although there is significant overlap in associated features, the subtypes are classified based on their unique signs and symptoms: Hypermobility type - characterized primarily by joint hypermobility affecting both large (elbows, knees) and small (fingers, toes) joints which may lead to recurrent joint dislocations and subluxations (partial dislocation). Affected people generally experience skin involvement (soft, smooth and velvety skin with easy bruising) and chronic pain of the muscles and/or bones, as well. Classic type - associated with extremely elastic (stretchy), smooth skin that is fragile and bruises easily; wide, atrophic scars (flat or depressed scars); and joint hypermobility. Molluscoid pseudotumors (calcified hematomas over pressure points such as the elbow) and spheroids (fat-containing cysts on forearms and shins) are frequently diagnosed in affected people. Hypotonia and delayed motor development may occur, as well. Vascular type - characterized by thin, translucent skin that is extremely fragile and bruises easily. Arteries and certain organs such as the intestines and uterus are also fragile and prone to rupture. Affected people typically have short stature; thin scalp hair; and characteristic facial features including large eyes, a thin nose and lobeless ears. Joint hypermobility is present, but generally confined to the small joints (fingers, toes). Other common features include club foot; tendon and/or muscle rupture; acrogeria (premature aging of the skin of the hands and feet); early onset varicose veins; pneumothorax (collapse of a lung); gingival (gums) recession; and a decreased amount of subcutaneous (under the skin) fat. Kyphoscoliosis type - associated with severe hypotonia at birth, delayed motor development, progressive scoliosis (present from birth), and scleral fragility. Affected people may also have easy bruising; fragile arteries that are prone to rupture; unusually small cornia; and osteopenia (low bone density). Other common features include a "marfanoid habitus" which is characterized by long, slender fingers (arachnodactyly); unusually long limbs; and a sunken chest (pectus excavatum) or protruding chest (pectus carinatum). Arthrochalasia type - characterized by severe joint hypermobility and congenital hip dislocation. Other common features include fragile, elastic skin with easy bruising; hypotonia; kyphoscoliosis (kyphosis and scoliosis); and mild osteopenia. Dermatosparaxis type - associated with extremely fragile skin leading to severe bruising and scarring; saggy, redundant skin, especially on the face; and hernias. For more information on each subtype, please click on the links above. You can also find more detailed information on Medscape Reference's Web site or the Ehlers-Danlos National Foundation's Web site. Although other forms of the condition exist, they are extremely rare and are not well-characterized. + GARD + Ehlers-Danlos syndrome
What causes Ehlers-Danlos syndrome ?
What causes Ehlers-Danlos syndrome? Ehlers-Danlos syndrome can be caused by changes (mutations) in several different genes (COL5A1, COL5A2, COL1A1, COL3A1, TNXB, PLOD1, COL1A2, and ADAMTS2). However, the underlying genetic cause is unknown in some families. Mutations in these genes usually alter the structure, production, and/or processing of collagen or proteins that interact with collagen. Collagen provides structure and strength to connective tissues throughout the body. A defect in collagen can weaken connective tissues in the skin, bones, blood vessels, and organs resulting in the features of the disorder. + GARD + Ehlers-Danlos syndrome
Is Ehlers-Danlos syndrome inherited ?
Is Ehlers-Danlos syndrome inherited? The inheritance pattern of Ehlers-Danlos syndrome (EDS) varies by subtype. The arthrochalasia, classic, hypermobility, and vascular forms of the disorder usually have an autosomal dominant pattern of inheritance. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with one of these subtypes has a 50% chance with each pregnancy of passing along the altered gene to his or her child. The dermatosparaxis and kyphoscoliosis types of EDS are inherited in an autosomal recessive pattern. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. + GARD + Ehlers-Danlos syndrome
How to diagnose Ehlers-Danlos syndrome ?
How is Ehlers-Danlos syndrome diagnosed? A diagnosis of Ehlers-Danlos syndrome is typically based on the presence of characteristic signs and symptoms. Depending on the subtype suspected, some of the following tests may be ordered to support the diagnosis: Collagen typing performed on a skin biopsy may aid in the diagnosis of vascular type, arthrochalasia type, and dermatosparaxis type. Collagen is a tough, fiber-like protein that makes up about a third of body protein. It is part of the structure of tendons, bones, and connective tissues. People with Ehlers-Danlos syndrome often have abnormalities of certain types of collagen. Genetic testing is available for many subtypes of Ehlers-Danlos syndrome; however, it is not an option for most families with the hypermobility type. Imaging studies such as CT scan, MRI, ultrasound, and angiography may be useful in identifying certain features of the condition. Urine tests to detect deficiencies in certain enzymes that are important for collagen formation may be helpful in diagnosing kyphoscoliosis type. + GARD + Ehlers-Danlos syndrome
What are the treatments for Ehlers-Danlos syndrome ?
How might Ehlers-Danlos syndrome be treated? There is no specific cure for Ehlers-Danlos syndrome (EDS). The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. Because the features of EDS vary by subtype, management strategies differ slightly. For more specific information on the treatment of each subtype, please click on the links below: Hypermobility type Classic type Vascular type Kyphoscoliosis type Arthrochalasia type Dermatosparaxis type Please speak to your healthcare provider if you have any questions about your personal medical management plan. + GARD + Ehlers-Danlos syndrome
What is (are) Adult-onset vitelliform macular dystrophy ?
Adult-onset vitelliform macular dystrophy (AVMD) is an eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pigment to accumulate in cells underlying the macula, eventually damaging the cells. Signs and symptoms usually begin between ages 30 and 50 and include blurred and/or distorted vision, which can progress to central vision loss over time.Historically, AVMD has been characterized as a genetic disorder caused by mutations in the PRPH2, BEST1, IMPG1, and IMPG2 genes; however, recent studies focused on genetic testing suggest that there may be other unidentified genes and/or environmental causes.The majority of cases due to a mutation in the identified genes are inherited in an autosomal dominant manner; however not all individuals have AVMD have a family history and not all individuals who inherit a causative gene mutation develop symptoms. + GARD + Adult-onset vitelliform macular dystrophy
What are the symptoms of Adult-onset vitelliform macular dystrophy ?
What are the signs and symptoms of Adult-onset vitelliform macular dystrophy? Signs and symptoms of adult-onset vitelliform macular dystrophy typically begin during mid-adulthood, in the fourth or fifth decade of life. At the time of diagnosis, individuals may have minimal visual symptoms (such as mild blurring) or mild metamorphopsia (distorted vision). Cells underlying the macula become more damaged over time, which can cause slowly progressive vision loss. The condition is usually bilateral (affecting both eyes). It usually does not affect peripheral vision or the ability to see at night. Studies have revealed much variability in the signs, symptoms and progression of this condition. It has been reported that while one individual may not have significant changes in visual acuity over several years, another may experience ongoing visual loss. It has been suggested that in the majority of affected individuals, progression of functional loss is limited. In general, the long-term outlook (prognosis) is usually good, but loss of central visual function is possible. The Human Phenotype Ontology provides the following list of signs and symptoms for Adult-onset vitelliform macular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the macula 90% Visual impairment 90% Abnormality of color vision 50% Abnormality of retinal pigmentation 50% Choroideremia 50% Visual field defect 50% Retinal detachment 7.5% Autosomal dominant inheritance - Macular atrophy - Macular dystrophy - Metamorphopsia - Photophobia - Reduced visual acuity - Vitelliform-like macular lesions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Adult-onset vitelliform macular dystrophy
What causes Adult-onset vitelliform macular dystrophy ?
What causes adult-onset vitelliform dystrophy? Historically, adult-onset vitelliform macular dystrophy (AVMD) was defined as a genetic disorder; however, recent studies have concluded that only a minority of cases have an identified genetic cause, suggesting that there might be other underlying causes of environmental origin, genetic origin, or a mix of genetics and environment (multifactorial).  More studies are needed to better define other underlying causes that might be present, whether of genetic or environmental origin.  Currently known genetic causes include mutations in the PRPH2, BEST1, IMPG1, and IMPG2 genes. It is additionally suspected that AVMD might be associated with a single-nucleotide polymorphism (variant DNA sequence) in the HTRA1 gene. Single-nucleotide polymorphisms in the HTRA1 gene are additionally associated with age-related macular degeneration. + GARD + Adult-onset vitelliform macular dystrophy
Is Adult-onset vitelliform macular dystrophy inherited ?
How is adult-onset vitelliform macular dystrophy inherited? The majority of cases with an identified family history or genetic cause are inherited in an autosomal dominant manner. This means that in order to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from a new (de novo) mutation in the gene. These cases occur in people with no history of the disorder in their family. When caused by a known mutation inherited in an autosomal dominant manner, a person with adult-onset macular dystrophy (AVMD) has a 50% chance with each pregnancy of passing along the altered gene to his or her child.  The inheritance pattern of AVMD can be confusing as not all individuals with AVMD have a family history and not all individuals who inherit a causative gene mutation develop symptoms. + GARD + Adult-onset vitelliform macular dystrophy
What are the treatments for Adult-onset vitelliform macular dystrophy ?
How might adult-onset vitelliform macular dystrophy be treated? Management for this condition should include a comprehensive eye examination, including dilation, once or twice a year to rule out any possible complications. If vision is impaired, patients should be referred for low vision testing and rehabilitation. Intravitreal injections of either Ranibizumab or Bevacizumab may be effective in the short-term. Transcorneal electrical stimulation has also been found to improve visual acuity in individuals with this condition. + GARD + Adult-onset vitelliform macular dystrophy
What is (are) Granuloma annulare ?
Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown. + GARD + Granuloma annulare
What are the symptoms of Granuloma annulare ?
What symptoms are associated with granuloma annulare? People with this condition usually notice a ring of small, firm bumps (papules) over the backs of the forearms, hands or feet. Occasionally, multiple rings may be found. Rarely, granuloma annulare may appear as a firm nodule under the skin of the arms or legs. + GARD + Granuloma annulare
What causes Granuloma annulare ?
What causes granuloma annulare? The cause of granuloma annulare is unknown, although there is much evidence that it is linked to the immune system. It has been reported to follow insect bites; sun exposure; tuberculin skin tests, ingestion of allopurinol; trauma; and viral infections, including Epstein-Barr, HIV, hepatitis C, and herpes zoster. Occasionally, granuloma annulare may be associated with diabetes or thyroid disease. + GARD + Granuloma annulare
What are the treatments for Granuloma annulare ?
How might granuloma annulare be treated? Granuloma annulare is difficult to treat and there are a limited number of clinical trials to reliably inform patients and physicians of the treatment options. Fortunately, most lesions of granuloma annulare disappear with no treatment within two years. Sometimes, however, the rings can remain for many years. Very strong topical steroid creams or ointments may be used to speed the disappearance of the lesions. Injections of steroids directly into the rings may also be effective. Some physicians may choose to freeze the lesions with liquid nitrogen. In severe cases, ultraviolet light therapy (PUVA) or oral medications may be needed. Other treatments that have been tried include :   Dapsone (a type of antibiotic) for widespread granuloma annulare  Isotretinoin  Etretinate (not available in the US)  Hydroxychloroquine  Chloroquine  Cyclosporine  Niacinamide  Oral psoralen  Vitamin E combined with a 5-lipoxygenase inhibitor  Fumaric acid esters  Topical tacrolimus  Pimecrolimus  Infliximab (in a patient with disseminated granuloma annulare that did not respond to other treatments) A review article titled, 'Diagnosis and Management of Granuloma Annulare' provides additional information on treatment options for granuloma annulare: http://www.aafp.org/afp/20061115/1729.html  Also, an article from Medscape Reference provides information on treatment for granuloma annulare at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/1123031-overview + GARD + Granuloma annulare
What is (are) Buschke Ollendorff syndrome ?
Buschke Ollendorff syndrome (BOS) is a genetic condition of the connective tissue. Common signs and symptoms include non-cancerous skin lumps and spots of increased bone density (which can be seen on X-ray). Some people with BOS have both skin and bone symptoms, while others have one or the other.  Individual cases of BOS have occurred in association with joint pain, hearing disorders (e.g., otosclerosis), congenital spinal stenosis, craniosynostosis, and nail patella syndrome. Symptoms of BOS may begin at any age, but most often present before age 20. BOS is caused by mutations in the LEMD3 gene. The mutation results in a loss of protein (also named LEMD3) that results in the excessive formation of bone tissue. It is not clear how the LEMD3 mutations cause the skin lumps or other features of BOS.  BOS is inherited in an autosomal dominant fashion. Affected members of the same family can have very different symptoms. + GARD + Buschke Ollendorff syndrome
Is Buschke Ollendorff syndrome inherited ?
How is Buschke Ollendorff syndrome inherited? Buschke Ollendorff syndrome (BOS) is caused by mutations in the LEMD3 gene and is inherited in an autosomal dominant manner. This means that only one changed (mutated) copy of the gene in each cell is sufficient for a person to be affected by the condition. An affected individual may have inherited a mutated copy of the LEMD3 gene from an affected parent, or they may have been born with a new (de novo) mutation. There is a 50% (1 in 2) chance for each child of an affected individual to inherit the mutated gene, and a 50% chance for each child  to not inherit the mutated gene. It has been proposed that the inheritance of BOS shows incomplete penetrance. Penetrance refers to the proportion of people with a particular genetic change (such as a mutation in a specific gene) who exhibit signs and symptoms of a genetic disorder. If some people with the mutation do not develop features of the disorder, the condition is said to have reduced (or incomplete) penetrance. Reduced penetrance probably results from a combination of genetic, environmental, and lifestyle factors, many of which are unknown. This phenomenon can make it challenging for genetics professionals to interpret a persons family medical history and predict the risk of passing a genetic condition to future generations. This means that not all individuals who have a new or inherited mutation in the LEMD3 gene will necessarily develop signs and symptoms of BOS. + GARD + Buschke Ollendorff syndrome
How to diagnose Buschke Ollendorff syndrome ?
Is genetic testing available for Buschke Ollendorff syndrome? Yes. GeneTests lists the names of laboratories that are performing genetic testing for Buschke Ollendorff syndrome. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. + GARD + Buschke Ollendorff syndrome