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0000559 | GHR | https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair | null | C0343073 | T047 | Disorders | KWWH | 0000559-1 | keratoderma with woolly hair | information | What is (are) keratoderma with woolly hair ? | Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. The wool... | Description Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also spar... |
0000559 | GHR | https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair | null | C0343073 | T047 | Disorders | KWWH | 0000559-2 | keratoderma with woolly hair | frequency | How many people are affected by keratoderma with woolly hair ? | Keratoderma with woolly hair is rare; its prevalence worldwide is unknown. Type I (Naxos disease) was first described in families from the Greek island of Naxos. Since then, affected families have been found in other Greek islands, Turkey, and the Middle East. This form of the condition may affect up to 1 in 1,000 peo... | Description Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also spar... |
0000559 | GHR | https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair | null | C0343073 | T047 | Disorders | KWWH | 0000559-3 | keratoderma with woolly hair | genetic changes | What are the genetic changes related to keratoderma with woolly hair ? | Mutations in the JUP, DSP, DSC2, and KANK2 genes cause keratoderma with woolly hair types I through IV, respectively. The JUP, DSP, and DSC2 genes provide instructions for making components of specialized cell structures called desmosomes. Desmosomes are located in the membrane surrounding certain cells, including skin... | Description Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also spar... |
0000559 | GHR | https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair | null | C0343073 | T047 | Disorders | KWWH | 0000559-4 | keratoderma with woolly hair | inheritance | Is keratoderma with woolly hair inherited ? | Most cases of keratoderma with woolly hair have an autosomal recessive pattern of inheritance, 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 usually do not show signs and symptoms of t... | Description Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also spar... |
0000559 | GHR | https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair | null | C0343073 | T047 | Disorders | KWWH | 0000559-5 | keratoderma with woolly hair | treatment | What are the treatments for keratoderma with woolly hair ? | These resources address the diagnosis or management of keratoderma with woolly hair: - Gene Review: Gene Review: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 11 ... | Description Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also spar... |
0000565 | GHR | https://ghr.nlm.nih.gov/condition/knobloch-syndrome | null | C1849409 | T019|T047 | Disorders | retinal detachment and occipital encephalocele | 0000565-1 | Knobloch syndrome | information | What is (are) Knobloch syndrome ? | Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect. A characteristic feature of Knobloch syndrome is extreme nearsightedness (high myopia). In addition, several other eye abnormalities are common in people with this condition. Most affected individuals have vitreoretinal d... | Description Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect. A characteristic feature of Knobloch syndrome is extreme nearsightedness (high myopia ). In addition, several other eye abnormalities are common in people with this condition. Most affected individuals have vit... |
0000565 | GHR | https://ghr.nlm.nih.gov/condition/knobloch-syndrome | null | C1849409 | T019|T047 | Disorders | retinal detachment and occipital encephalocele | 0000565-2 | Knobloch syndrome | frequency | How many people are affected by Knobloch syndrome ? | Knobloch syndrome is a rare condition. However, the exact prevalence of the condition is unknown. | Description Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect. A characteristic feature of Knobloch syndrome is extreme nearsightedness (high myopia ). In addition, several other eye abnormalities are common in people with this condition. Most affected individuals have vit... |
0000565 | GHR | https://ghr.nlm.nih.gov/condition/knobloch-syndrome | null | C1849409 | T019|T047 | Disorders | retinal detachment and occipital encephalocele | 0000565-3 | Knobloch syndrome | genetic changes | What are the genetic changes related to Knobloch syndrome ? | Mutations in the COL18A1 gene can cause Knobloch syndrome. The COL18A1 gene provides instructions for making a protein that forms collagen XVIII, which is found in the basement membranes of tissues throughout the body. Basement membranes are thin, sheet-like structures that separate and support cells in these tissues. ... | Description Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect. A characteristic feature of Knobloch syndrome is extreme nearsightedness (high myopia ). In addition, several other eye abnormalities are common in people with this condition. Most affected individuals have vit... |
0000565 | GHR | https://ghr.nlm.nih.gov/condition/knobloch-syndrome | null | C1849409 | T019|T047 | Disorders | retinal detachment and occipital encephalocele | 0000565-4 | Knobloch syndrome | inheritance | Is Knobloch 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. | Description Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect. A characteristic feature of Knobloch syndrome is extreme nearsightedness (high myopia ). In addition, several other eye abnormalities are common in people with this condition. Most affected individuals have vit... |
0000565 | GHR | https://ghr.nlm.nih.gov/condition/knobloch-syndrome | null | C1849409 | T019|T047 | Disorders | retinal detachment and occipital encephalocele | 0000565-5 | Knobloch syndrome | treatment | What are the treatments for Knobloch syndrome ? | These resources address the diagnosis or management of Knobloch syndrome: - American Academy of Ophthalmology: Eye Smart - Genetic Testing Registry: Knobloch syndrome 1 - JAMA Patient Page: Retinal Detachment - National Eye Institute: Facts About Retinal Detachment - Prevent Blindness America: Retinal Tears and De... | Description Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect. A characteristic feature of Knobloch syndrome is extreme nearsightedness (high myopia ). In addition, several other eye abnormalities are common in people with this condition. Most affected individuals have vit... |
0000203 | GHR | https://ghr.nlm.nih.gov/condition/coloboma | null | C0009363 | T019 | Disorders | congenital ocular coloboma|microphthalmia, isolated, with coloboma|ocular coloboma|uveoretinal coloboma | 0000203-1 | coloboma | information | What is (are) coloboma ? | Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that ... | Description Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye , including the colored part of the eye called the iris; the retina , which is the specialized light-sensitiv... |
0000203 | GHR | https://ghr.nlm.nih.gov/condition/coloboma | null | C0009363 | T019 | Disorders | congenital ocular coloboma|microphthalmia, isolated, with coloboma|ocular coloboma|uveoretinal coloboma | 0000203-2 | coloboma | frequency | How many people are affected by coloboma ? | Coloboma occurs in approximately 1 in 10,000 people. Because coloboma does not always affect vision or the outward appearance of the eye, some people with this condition are likely undiagnosed. | Description Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye , including the colored part of the eye called the iris; the retina , which is the specialized light-sensitiv... |
0000203 | GHR | https://ghr.nlm.nih.gov/condition/coloboma | null | C0009363 | T019 | Disorders | congenital ocular coloboma|microphthalmia, isolated, with coloboma|ocular coloboma|uveoretinal coloboma | 0000203-3 | coloboma | genetic changes | What are the genetic changes related to coloboma ? | Coloboma arises from abnormal development of the eye. During the second month of development before birth, a seam called the optic fissure (also known as the choroidal fissure or embryonic fissure) closes to form the structures of the eye. When the optic fissure does not close completely, the result is a coloboma. The ... | Description Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye , including the colored part of the eye called the iris; the retina , which is the specialized light-sensitiv... |
0000203 | GHR | https://ghr.nlm.nih.gov/condition/coloboma | null | C0009363 | T019 | Disorders | congenital ocular coloboma|microphthalmia, isolated, with coloboma|ocular coloboma|uveoretinal coloboma | 0000203-4 | coloboma | inheritance | Is coloboma inherited ? | Most often, isolated coloboma is not inherited, and there is only one affected individual in a family. However, the affected individual is still at risk of passing the coloboma on to his or her own children. In cases when it is passed down in families, coloboma can have different inheritance patterns. Isolated colobom... | Description Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye , including the colored part of the eye called the iris; the retina , which is the specialized light-sensitiv... |
0000203 | GHR | https://ghr.nlm.nih.gov/condition/coloboma | null | C0009363 | T019 | Disorders | congenital ocular coloboma|microphthalmia, isolated, with coloboma|ocular coloboma|uveoretinal coloboma | 0000203-5 | coloboma | treatment | What are the treatments for coloboma ? | These resources address the diagnosis or management of coloboma: - Genetic Testing Registry: Congenital ocular coloboma - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 1 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 2 - Genetic Testing Registry: Microphthalmia, isolated, wi... | Description Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye , including the colored part of the eye called the iris; the retina , which is the specialized light-sensitiv... |
0000571 | GHR | https://ghr.nlm.nih.gov/condition/lacrimo-auriculo-dento-digital-syndrome | null | C0265269 | T047 | Disorders | lacrimoauriculodentodigital syndrome|LADD syndrome|Levy-Hollister syndrome | 0000571-1 | lacrimo-auriculo-dento-digital syndrome | information | What is (are) lacrimo-auriculo-dento-digital syndrome ? | Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digital). The l... | Description Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digi... |
0000571 | GHR | https://ghr.nlm.nih.gov/condition/lacrimo-auriculo-dento-digital-syndrome | null | C0265269 | T047 | Disorders | lacrimoauriculodentodigital syndrome|LADD syndrome|Levy-Hollister syndrome | 0000571-2 | lacrimo-auriculo-dento-digital syndrome | frequency | How many people are affected by lacrimo-auriculo-dento-digital syndrome ? | LADD syndrome appears to be a rare condition; at least 60 cases have been described in the scientific literature. | Description Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digi... |
0000571 | GHR | https://ghr.nlm.nih.gov/condition/lacrimo-auriculo-dento-digital-syndrome | null | C0265269 | T047 | Disorders | lacrimoauriculodentodigital syndrome|LADD syndrome|Levy-Hollister syndrome | 0000571-3 | lacrimo-auriculo-dento-digital syndrome | genetic changes | What are the genetic changes related to lacrimo-auriculo-dento-digital syndrome ? | Mutations in the FGFR2, FGFR3, or FGF10 gene can cause LADD syndrome. The FGFR2 and FGFR3 genes provide instructions for making proteins that are part of a family called fibroblast growth factor receptors. The FGF10 gene provides instructions for making a protein called a fibroblast growth factor, which is a family of... | Description Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digi... |
0000571 | GHR | https://ghr.nlm.nih.gov/condition/lacrimo-auriculo-dento-digital-syndrome | null | C0265269 | T047 | Disorders | lacrimoauriculodentodigital syndrome|LADD syndrome|Levy-Hollister syndrome | 0000571-4 | lacrimo-auriculo-dento-digital syndrome | inheritance | Is lacrimo-auriculo-dento-digital syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means a mutation in one copy of the FGFR2, FGFR3, or FGF10 gene in each cell is 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 o... | Description Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digi... |
0000571 | GHR | https://ghr.nlm.nih.gov/condition/lacrimo-auriculo-dento-digital-syndrome | null | C0265269 | T047 | Disorders | lacrimoauriculodentodigital syndrome|LADD syndrome|Levy-Hollister syndrome | 0000571-5 | lacrimo-auriculo-dento-digital syndrome | treatment | What are the treatments for lacrimo-auriculo-dento-digital syndrome ? | These resources address the diagnosis or management of lacrimo-auriculo-dento-digital syndrome: - American Academy of Ophthalmology: The Tearing Patient - Cincinnati Children's Hospital: Tear Duct Probing and Irrigation - Cleveland Clinic: Dry Eyes - Cleveland Clinic: Dry Mouth Treatment - Genetic Testing Registry... | Description Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digi... |
0000940 | GHR | https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-3 | null | C0024408 | T047 | Disorders | Azorean ataxia|Azorean disease|Machado-Joseph disease|MJD|SCA3 | 0000940-1 | spinocerebellar ataxia type 3 | information | What is (are) spinocerebellar ataxia type 3 ? | Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle sti... | Description Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia)... |
0000940 | GHR | https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-3 | null | C0024408 | T047 | Disorders | Azorean ataxia|Azorean disease|Machado-Joseph disease|MJD|SCA3 | 0000940-2 | spinocerebellar ataxia type 3 | frequency | How many people are affected by spinocerebellar ataxia type 3 ? | The prevalence of SCA3 is unknown. This condition is thought to be the most common type of spinocerebellar ataxia; however, all types of spinocerebellar ataxia are relatively rare. | Description Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia)... |
0000940 | GHR | https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-3 | null | C0024408 | T047 | Disorders | Azorean ataxia|Azorean disease|Machado-Joseph disease|MJD|SCA3 | 0000940-3 | spinocerebellar ataxia type 3 | genetic changes | What are the genetic changes related to spinocerebellar ataxia type 3 ? | Mutations in the ATXN3 gene cause SCA3. The ATXN3 gene provides instructions for making an enzyme called ataxin-3, which is found in cells throughout the body. Ataxin-3 is involved in a mechanism called the ubiquitin-proteasome system that destroys and gets rid of excess or damaged proteins. The molecule ubiquitin is a... | Description Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia)... |
0000940 | GHR | https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-3 | null | C0024408 | T047 | Disorders | Azorean ataxia|Azorean disease|Machado-Joseph disease|MJD|SCA3 | 0000940-4 | spinocerebellar ataxia type 3 | inheritance | Is spinocerebellar ataxia type 3 inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. As the altered ATXN3 gene is passed down from one generation to the next, the length of the CAG t... | Description Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia)... |
0000940 | GHR | https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-3 | null | C0024408 | T047 | Disorders | Azorean ataxia|Azorean disease|Machado-Joseph disease|MJD|SCA3 | 0000940-5 | spinocerebellar ataxia type 3 | treatment | What are the treatments for spinocerebellar ataxia type 3 ? | These resources address the diagnosis or management of SCA3: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 3 - Genetic Testing Registry: Azorean disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ... | Description Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia)... |
0000798 | GHR | https://ghr.nlm.nih.gov/condition/pilomatricoma | null | C0206711 | T191 | Disorders | benign pilomatricoma|benign pilomatrixoma|calcifying epithelioma of Malherbe|Malherbe calcifying epithelioma|pilomatrixoma | 0000798-1 | pilomatricoma | information | What is (are) pilomatricoma ? | Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, or legs. A pi... | Description Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, o... |
0000798 | GHR | https://ghr.nlm.nih.gov/condition/pilomatricoma | null | C0206711 | T191 | Disorders | benign pilomatricoma|benign pilomatrixoma|calcifying epithelioma of Malherbe|Malherbe calcifying epithelioma|pilomatrixoma | 0000798-2 | pilomatricoma | frequency | How many people are affected by pilomatricoma ? | Pilomatricoma is an uncommon tumor. The exact prevalence is unknown, but pilomatricoma probably accounts for less than 1 percent of all benign skin tumors. | Description Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, o... |
0000798 | GHR | https://ghr.nlm.nih.gov/condition/pilomatricoma | null | C0206711 | T191 | Disorders | benign pilomatricoma|benign pilomatrixoma|calcifying epithelioma of Malherbe|Malherbe calcifying epithelioma|pilomatrixoma | 0000798-3 | pilomatricoma | genetic changes | What are the genetic changes related to pilomatricoma ? | Mutations in the CTNNB1 gene are found in almost all cases of isolated pilomatricoma. These mutations are somatic, which means they are acquired during a person's lifetime and are present only in tumor cells. Somatic mutations are not inherited. The CTNNB1 gene provides instructions for making a protein called beta-ca... | Description Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, o... |
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