COL4A1 mutations are responsible for a wide range of abnormalities affecting mainly the brain and the retinal vasculature, the anterior and posterior ocular structures and the renal glomerules. Clinical spectrum of type IV collagen (COL4A1) mutations: a novel MedlinePlus also links to health information from non-government Web sites. Illumina's Sequencing by Synthesis (SBS) technology (MiSeq Personal Sequencer, Illumina) analyzed the generated amplicons. HHS Vulnerability Disclosure, Help In people with HANAC syndrome, angiopathy affects several parts of the body. Any muscle may be affected, and cramps usually last from a few seconds to a few minutes, although in some cases they can last for several hours. ACS Omega. Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. A similar term, variable expressivity, describes when affected individuals have widely varying signs and symptoms. Affected individuals may have no observable symptoms or only isolated migraines with aura. The cells of the retina trigger nerve impulses that run from the optic nerve to the brain to form sight. After the COL4A1 mutation was found, systemic manifestations of COL4A1 mutations were investigated. COL4A1 mutations as a monogenic cause of cerebral Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations. In: Pagon RA, Bird TD, Dolan CR, et al., GeneReviews. It looks like nothing was found at this location. The effects of the disorder range from subtle or mild to severe, depending on associated brain abnormalities. The proportion of cases caused by a de novopathogenic variant is estimated to be at least 27%. What does it mean to have a COL4A1 gene mutation: The COL4A1 gene provides instructions for making one component of type IV collagen, which is a flexible protein important in the structure of many. 1 Survivors often have a severely diminished quality of life, require long-term care, and are at high risk . Role of COL4A1 in small-vessel disease and hemorrhagic stroke. See our, Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome, URL of this page: https://medlineplus.gov/genetics/condition/hereditary-angiopathy-with-nephropathy-aneurysms-and-muscle-cramps-syndrome/. doi: 10.1038/gim.2015.30, 21. I cannot describe the feeling of seeing your child healed. Suite 500 Phone: 203-263-9938 Pediatricians are physicians who specialize in the childhood disorders and are often the first to detect patients with COL4A1/A2-related disorders. PV and VW followed the children at the Neuropediatrics clinic of the same hospital. Mutations in COL4A1 or COL4A2 cause Gould Syndrome and, because these two proteins are found in almost all tissues; nearly any organ can be affected. After a normal neonatal period, those affected develop a rapidly progressive course involving irritability, hyperaesthesia, visual and hearing loss, severe cognitive and motor deterioration, and seizures. She had seizures every day, couldnt gain weight, sleep right, or generally enjoy her life. Vahedi K, Alamowitch S. Clinical spectrum of type IV collagen (COL4A1) (2009) 73:187382. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. the basement membranes surrounding the body's blood vessels, National Organization for Rare Disorders (NORD), BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES. doi: 10.1038/jp.2013.135, 29. Affected infants and children can exhibit delays in reaching developmental milestones and varying degrees of intellectual disability. Oct;152A(10):2550-5. doi: 10.1002/ajmg.a.33659. https://nord1dev.wpengine.com/for-patients-and-families/information-resources/info-clinical-trials-and-research-studies/, For information about clinical trials sponsored by private sources, contact: One year later, right hemiparesis became clinically evident with a lack of right voluntary hand prehension in association with right hemineglect. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. Neurol. Together, these studies suggest that certain unknown variants of COL4A1 and COL4A2 might contribute to chronic vascular dysfunction. 4 Both . Clin Genet. What are the different ways a genetic condition can be inherited? Focke JK, Veltkamp R, Bauer P, Kraemer M. J Neurol. There is in addition a specific phenotype called HANAC with constant nephropathy, muscle cramps and frequent intracranial aneurysms. (19). Still other individuals may not develop any symptoms until well into adulthood. Feb;24(1):63-8. doi: 10.1097/WCO.0b013e32834232c6. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3459649/, Federico A, Di Donato I, Bianchi S, et al. 2015;17:843-853. https://www.nature.com/articles/gim2014210, Yoneda Y, Haginoya K, Kato M, et al. Genet Med. When an individual tests positive for a mutation but does not manifest the effects, it is referred to as having incomplete or reduced penetrance. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. When these ropes are secreted, they assemble into net-like structures outside the cells. MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. Changing lives of those with rare disease. NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations. Image showed ventricular asymmetry and brain MRI confirmed right frontotemporal dilatation (B). (2010) 14:1827. Interpretation of variant significance was done according to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines (20). Rouaud T, Labauge P, Lasserve ET, Mine M, Coustans M, Deburghgraeve V, et al. 2008 May;192(5):971-84; discussion 984-6. doi: 10.1056/NEJMoa053727, 7. Abnormal blood vessels in the brain are a major consequence of COL4A1 and COL4A2 gene mutations. This group rarely survives beyond 2 years. This site needs JavaScript to work properly. Axenfeld-Rieger is a collection of abnormalities affecting the front of the eye including the iris (colored part of the eye) and cornea (abnormally small corneas called microcornea), which is the transparent membrane that covers the eyes. CADASIL patients can experience progressive memory loss, deterioration of intellectual abilities and loss of balance with a progressive worsening of these symptoms, but symptoms are usually less severe and occur later in life. Pediatr Neurol. Mutated patients develop a diffuse small vessel disease of the brain as shown by a diffuse leukoencephalopathy on MRI. For example, treatment may include physical therapy, speech therapy, anti-convulsant medications for seizures, and a shunt to treat hydrocephalus by draining excess fluid from the skull. Volonghi I, Pezzini A, Del Zotto E, Giossi A, Costa P, Ferrari D, Padovani A. 2010 Aug;41(8):e513-8. Aura refers to additional neurological symptoms that occur with, or sometimes before, the development of the migraine headache. Comparison of Clinical, Radiographic, and Histological Features in COL4A1 Syndrome Compared With Other Single Gene Disorders Causing SVD. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. She also showed severe hypermetropia. Suite 310 Neurologic phenotypes associated with COL4A1/2 mutations Vermeulen RJ, Peeters-Scholte C, Van Vugt JJMG, Barkhof F, Rizzu P, Van der Schoor SRD, et al. Ultrasound in utero from IV-6 (A). He smiled, caught it, and asked Zeeva if he could throw it back. NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. They are typically characterized by abnormal blood vessels in the brain (cerebral vasculature defects), eye development defects (ocular dysgenesis), muscle disease (myopathy), and kidney abnormalities (renal pathology); however, many other aspects of the syndrome including abnormalities affecting the structure of the brain (cerebral cortical abnormalities) and lung (pulmonary) abnormalities continue to emerge and the full spectrum is still uncharacterized. Smoking, which also increases the risk of stroke, physical activities that can cause head trauma such as contact sports, and the use of anti-clotting (anticoagulant) medications, should be avoided. (For more information on this disorder, choose cadasil as your search term in the Rare Disease Database. If neither parent carries the mutation, it is considered de novo which means that the mutation is a new occurrence. (2014) 34:757. Figure 3. During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. What does it mean if a disorder seems to run in my family? The COL4A1 gene has 52 exons and most of the pathogenic variants are distributed across exons 10 to 47 in the triple-helix domain. She was struggling to advance both cognitively and physically because of uncontrolled epilepsy. We therefore began our analysis of mutant Col4a1 G498V mice by examining the retinal vascular network at three and nine months of age. Various treatments have been reported in the medical literature as part of single case reports or small series of patients. Muscle cramps can be spontaneous or triggered by exercise. Acute urinary retention due to a novel collagen COL4A1 mutation. Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder. J Neurol Sci. In people with HANAC syndrome, the vasculature and other tissues within the kidneys, brain, muscles, eyes, and throughout the body weaken. We describe here the phenotype of a likely pathogenic gene variant, p.Gly743Val, which is responsible for a missense mutation in the COL4A1 gene exon 30 in a three generation family with severe hypermetropia and highly penetrant porencephaly in the absence of systemic manifestations. We are a registered 501(c)3 Nonprofit dedicated to providing hope and help to children and adults with Gould Syndrome; affecting COL4A1 and COL4A2 genes. Arch Neurol. COL4A1 brain small-vessel disease is an autosomal dominant condition resulting from a mutation to the COL4A1 gene, located on the long arm of chromosome 13, that normally encodes for the alpha-1 chain of type IV collagen 1-6. The networks formed by the COL4A1 and COL4A2 proteins are called basement membranes and are present in every organ of the body. Careers. Since fewer than 100 families have been reported, the exact prevalence of COL4A1-related disorders is not well-established. Given the variable expressivity of these mutations, COL4A1/A2-related disorders are likely under diagnosed and the exact number of people who have these disorders is unknown. It is ubiquitously expressed in many tissues and cell types. doi: 10.1111/j.1469-8749.2011.04198.x, 26. Phone: 617-249-7300, Danbury, CT office (2017) 377:111931. A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family. Neurology. COL4A1/A2-related disorders are dominant genetic disorders. (2008) 23:17. All individuals with this condition have arteries that twist and turn abnormally within the light-sensitive tissue at the back of the eyes (arterial retinal tortuosity). eCollection 2022 Nov 8. Neurology. In a retrospective study of 52 patients with COL4A1 mutations, stroke occurred in 17.3% of subjects and MRI showed white matter abnormalities (63.5%), subcortical microbleeds (52.9%), porencephaly (46%), enlarged spaces around blood vessels, (19.2%), and small infarctions (13.5%). (2015) 17:84353. Clinical Testing and Workup Affected individuals may also experience seizures and migraine headaches accompanied by visual sensations known as auras. doi: 10.1038/nmeth.2890, 22. Exon mutations of the COL4A1 genes are responsible for a broad spectrum of cerebral, ocular, and systemic manifestations. For example, networks of COL4A1 and COL4A2 are present in the basement membranes of blood vessels. Mosaic individuals are likely less severely affected, or even asymptomatic, because they have many cells that secrete COL4A1 normally and that can compensate for those cells that cannot. COL4A1-related brain small-vessel disease is part of a group of conditions called the COL4A1-related disorders. doi: 10.1212/WNL.0b013e3181c3fd12, 9. doi: 10.1007/s00417-014-2800-6, 12. The variant was confirmed by bidirectional fluorescence DNA sequencing (Sanger method). Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. Antiinflammatory therapy with canakinumab for atherosclerotic disease. This review dsecribes the clinical spectrum of a newly identified disorder related to COL4A1 gene mutations. Teaching families how to advocate for their loved ones and access medical information. 2012;322:25-30. https://www.ncbi.nlm.nih.gov/pubmed/22868088, Shah S, Ellard S, Kneen R, et al. Some affected individuals may develop weakness or paralysis of one side of the body (hemiparesis or hemiplegia) and have seizures. The degree of mosaicism is highly variable ranging from only a small percent of cells with the mutation to nearly all cells carrying the mutation and depends on the stage during development that the mutation occurred. This condition causes mutations in genes that produce a specific type of collagen. The COL4A1 and COL4A2 genes were screened in proband IV-6. Fax: 203-263-9938, Washington, DC Office There are notable differences in the specific signs and symptoms (clinical heterogeneity), and different organs are affected to different degrees between patients even among members of a family who carry the same gene mutation. Various muscles can be affected and muscle strength can become weakened. Here we report a family in which three siblings presented severe hypermetropia and porencephaly. What does it mean if a disorder seems to run in my family? When this enzyme is elevated, it is a sign of muscle damage. Neurology. This can manifest as porencephaly if the vessels rupture in utero, hemorrhagic stroke postnatally or in adults, or even small cerebral microbleeds that might go unnoticed except on MRI. 2017;57-58:29-44. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5328961/, Sondergaard CB, Nielsen JE, Hansen CK, Christensen H. Hereditary cerebral small vessel disease and stroke. See our, COL4A1-related brain small-vessel disease, URL of this page: https://medlineplus.gov/genetics/condition/col4a1-related-brain-small-vessel-disease/. Dominant genetic disorders occur when only a single copy of a non-working gene is necessary to cause a particular disease. The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and review of the literature. Stroke subtype, vascular risk factors, and total MRI brain small-vessel disease burden. The blood vessels as well as thin sheet-like structures called basement membranes that separate and support cells are weakened and more susceptible to breakage. doi: 10.1002/ana.23736, 4. A dashed arrow indicates secondary atrophy in the left cerebral peduncle. Individuals with HANAC syndrome also experience a variety of eye problems. can also contribute. 8600 Rockville Pike doi: 10.2214/ajr.149.2.351, 19. Research in mice with Col4a1 mutations suggests that the position of the mutation is very important. Front Aging Neurosci. (E,F) IV-3Brain MRI showed left frontotemporal dilatation and diffusion tensor imaging (DTI) sequences demonstrated no left corticospinal tract (cranio-caudal fibers, indigo, with arrows). When we didnt feel we had any options left for treatment, Individuals with COL4A1 or COL4A2 mutations can also develop formation of clefts or slits in the two halves of the brain (schizencephaly) in which cerebral hemispheres are missing and replaced with sacs filled with cerebrospinal fluid (hydranencephaly), abnormal folds in the brain surface (polymicrogyria) or abnormalities in the normal laying of the neuronal cells in the brain (cortical lamination defects). IV-3 and IV-6 are closely followed by a neuropediatrician (VW). government site. Collagen, type IV, alpha 1 - Wikipedia What are the different ways a genetic condition can be inherited? In people with COL4A1-related brain small-vessel disease, the vasculature in the brain weakens, which can lead to blood vessel breakage and stroke. People with HANAC syndrome develop kidney disease (nephropathy). Ann Neurol. doi: 10.1111/cge.12379, 13. Stroke is a leading cause of death and serious long-term disability in developed nations. The .gov means its official. Some individuals do not have any observable symptoms (asymptomatic); others can develop severe, even life-threatening complications. Am J Med Genet. Additionally, consultation with a genetic counselor is strongly recommended for affected individuals and their families and psychosocial support for the entire family is essential. (2014) 252:178994. Each child of an individual with a COL4A1-related disorder has a 50% chance of inheriting the pathogenic variant. National Library of Medicine It affects mainly young adults, children and more typically neonates. In the human genome, there are 46 chromosomes. There are no standardized treatment protocols or guidelines for affected individuals. Mutations in COL4A3, COL4A4 and COL4A5 were found in the early 1990's in patients with Alport Syndrome. The ultimate goal of IAMRARE is to unite patients and research communities in the improvement of care and drug development. Genet Med. Shah S, Kumar Y, McLean B, Churchill A, Stoodley N, Rankin J, et al. Information on current clinical trials is posted on the Internet at https://clinicaltrials.gov/. It is passed through families in a autosomal dominant fashion. Cerebral small vessel disease with hemorrhage is likely milder continuum from porencephaly and exhibits many of the same symptoms (with the exception of the brain cavities). This page is currently unavailable. Depending on the cell type that acquires the mutation and when the mutation arises, the individual may have many or few cells with the mutation. Vilain C, Van Regemorter N, Verloes A, David P, Van Bogaert P. Neuroimaging fails to identify asymptomatic carriers of familial porencephaly. Mutations in the COL4A1 gene cause HANAC syndrome. She, then, developed seizures which were controlled by valproic acid. Neurology. Type IV collagen is an important component of basement membranes in many tissues, especially blood vessels 1-6. COL4A1 Mutations Cause Neuromuscular Disease with - ScienceDirect Rare disorders often go misdiagnosed or undiagnosed, making it difficult to determine their true frequency in the general population. N Engl J Med. doi: 10.1126/science.1109418, 5. II-2 had a limp since childhood attributed to forceps delivery. 2010 Background: COL4A1 mutations cause familial porencephaly, infantile hemiplegia, cerebral small vessel disease (CSVD), and hemorrhagic stroke. The site is secure. Copyright 2023 NORD National Organization for Rare Disorders, Inc. All rights reserved. This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder. It is possible that insufficient collagen in the basement membrane predisposes blood vessels in the brain to leak or rupture. These protein networks are the main component of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. COL4A1 encodes type IV collagen 1 chain, a crucial component of nearly all basement membrane including vasculature, renal glomerule and ocular structures. (2011) 42:13. Some individuals develop cysts on the kidney. (2018) 91:e207888. A Podcast For The Rare Disease Community, Policy Statements & Letters to Policymakers. COL4A1/COL4A2 gene mutations description, symptoms and the sub-diagnosis. 2009 Jun 25 [Updated 2016 Jul 7]. All authors contributed to the article and approved the submitted version. Curr Opin Neurol. 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. Lecordier S, Manrique-Castano D, El Moghrabi Y, ElAli A. Copyright 2023 by Gould Syndrome Foundation -. https://www.ncbi.nlm.nih.gov/pubmed/20558831, Alamowitch S, Plaisier E, Favrole P, et al. Zeevas brain to treat a cyst in her brain caused by porencephaly. Eur J Paediatr Neurol. The pathogenic mechanisms of COL4A1 mutations are not fully elucidated and may vary according to the mutation type, the affected exon (mutations responsible for systemic HANAC syndrome cluster at exon 24 and 25), the position of the mutation within the triple-helix domain, and the mutation location. Compared to other COL4A1-related disorders, the brain is only mildly affected in HANAC syndrome. Progressive cerebral atrophies in three children with COL4A1 mutations. COL4A1 is an essential component for basal membrane stability and exon mutations of COL4A1 gene mutations are responsible for a broad spectrum of systemic manifestations characterized by small vessel involvement of variable severity, including neurological ( 1) [porencephaly ( 2 - 4 ), hemorrhage ( 2, 5 - 7) and aneurysms ( 8 )], ophthalmological Quincy, MA 02169 Acute or chronic IOP elevation can lead to glaucoma where the increased pressure damages the optic nerve causing progressive and irreversible vision loss. The brain MRI of IV-6 disclosed a large right-sided frontoparietal cavity (Figure 3B) with communication to the lateral ventricle, isosignal to CFS. He also wanted to remove a shunt that was implanted in Slavotinek AM, Garcia ST, Chandratillake G, Bardakjian T, Ullah E, Wu D, et al. Urine analysis to test for blood or excess protein can be used to evaluate renal function and identify if the kidneys might be affected. Children inherit a full complement of chromosomes from each of their parent and so we carry two copies of each gene. No ophthalmological surgery was planned on annual control for any member, but only positive lens correction prescribed. Gould DB, Phalan FC, Breedveld GJ, Van Mil SE, Smith RS, Schimenti JC, et al. Individuals with this condition are at increased risk of having more than one stroke in their lifetime. 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. IV-3 had a left hemisphere porencephalic cyst and the lack of evidence of a left corticospinal tract on tractography (Figures 3E,F), IV-5 had a porencephalic cyst on the right lateral ventricle (Figure 3C), and III-3 had leukoencephalopathy (Figure 3D). Oral expression was reduced and neuropsychological testing revealed language delay with a prominent expression deficit. Type IV collagen networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature). 2013;73:48-57. https://www.ncbi.nlm.nih.gov/pubmed/23225343, Kuo DS, Labelle-Dumais C, Gould DB. Gould Syndrome - COL4A1 - COL4A2 genes - Gould Syndrome Foundation Gould Syndrome Foundation We are a registered 501 (c)3 Nonprofit dedicated to providing hope and help to children and adults with Gould Syndrome; affecting COL4A1 and COL4A2 genes. 2018;91:e2078-e2088. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. Feb;24(1):63-8. doi: 10.1097/WCO.0b013e32834232c6. Plaisier E, Chen Z, Gekeler F, Benhassine S, Dahan K, Marro B, Alamowitch S, Paques M, Ronco P. Am J Med Genet A. COL4A1 brain small-vessel disease - Radiopaedia Neurologic phenotypes associated with COL4A1/2 mutations: expanding the spectrum of disease. III-3 was asymptomatic but for severe hypermetropia and bilateral cataracts. These types of correlations can be difficult to detect in patients because of the broad genetic variability in humans. Axenfeld-Rieger anomaly and cataract can cause impaired vision. But she is learning to read, enjoys swimming, horseback riding, and is a glass jewelry and pottery artist. For asymptomatic patients, cerebral and vessel imaging for aneurysm screening and ophthalmologic follow-up are indicated (2). (2020). N Engl J Med. Type IV collagen molecules attach to each other to form complex protein networks. Epub 2010 Jun 17. The surgery COL4A1/A2-Related Disorders - Symptoms, Causes, Treatment | NORD Cereb Circ Cogn Behav. Disease Overview. An official website of the United States government. For example, Type I collagen mutations cause Osteogenesis Imperfecta (brittle bone disease), Type II collagen mutations cause chondrodysplasias (defects of cartilage) and mutations in Type III collagen cause a form of Ehlers-Danlos Syndrome. Our review highlights that COL4A1 mutations can present for the first time in adult life with features of cerebral SVD, including subcortical hemorrhage and ischemic stroke, . Standardized (15) familiar pedigree is showed in Figure 1. Advanced imaging techniques can include computerized tomography (CT) scanning and magnetic resonance imaging (MRI). This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). Stay Informed With NORDs Email Newsletter, Launching Registries & Natural History Studies, https://nord1dev.wpengine.com/for-patients-and-families/information-resources/info-clinical-trials-and-research-studies/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282239/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5328961/, https://www.ncbi.nlm.nih.gov/pubmed/28254515, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728690/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351667/, https://www.nature.com/articles/gim2014210, https://www.ncbi.nlm.nih.gov/pubmed/23225343, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3459649/, https://www.ncbi.nlm.nih.gov/pubmed/22868088, https://www.ncbi.nlm.nih.gov/pubmed/22574627, https://www.ncbi.nlm.nih.gov/pubmed/20558831, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2881859/, https://www.ncbi.nlm.nih.gov/pubmed/26610912, https://www.ncbi.nlm.nih.gov/books/NBK7046/, https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Cephalic-Disorders-Fact-Sheet, https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/, https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/, https://rarediseases.org/patient-assistance-programs/caregiver-respite/, Learn more about Patient Assistance Programs >, Arginine: Glycine Amidinotransferase Deficiency, https://rarediseases.org/non-member-patient/epilepsy-foundation/, Gould Syndrome Foundation (COL4a1/COL4A2), https://rarediseases.org/non-member-patient/gould-syndrome-foundation-col4a1-col4a2/, https://rarediseases.org/non-member-patient/national-kidney-foundation/, https://rarediseases.org/non-member-patient/nih-national-eye-institute/, NIH/National Institute of Neurological Disorders and Stroke, Aromatic L-Amino Acid Decarboxylase Deficiency, https://rarediseases.org/non-member-patient/nih-national-institute-of-neurological-disorders-and-stroke/, https://rarediseases.org/non-member-patient/the-arc/, Learn more about Patient Organization & Membership >, HANAC: hereditary angiopathy, nephropathy and cramps syndrome (OMIM #611773), POREN1: autosomal dominant type 1 porencephaly; porencephaly with infantile hemiplegia (OMIM #175780, RATOR: retinal arterial tortuosity (OMIM #180000), BSVD: brain small vessel disease with or without ocular anomalies (OMIM #607595), ICH: susceptibility to intracerebral hemorrhage (OMIM #614519).
Chicago Outfit 2021 Chart,
Vita Healthcare Group Ceo,
Why Does Baba Voss Walk Like That,
Hawaii Hurricanes Before 1950,
Articles C