In Autosomal Dominant Inheritance Cgi Photoid

In Autosomal Dominant Inheritance Cgi Photoid

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MedGen UID: 141047 • Concept ID: C0443147 • Genetic Function; Intellectual Product
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. [from HPO ]
Sharma A,
Bosman LP,
Tichnell C,
Nanavati J,
Murray B,
Nonyane BAS,
Tandri H,
Calkins H,
James CA
Circ Genom Precis Med
2022 Jun;15(3):e003530.
Epub 2022 May 17
doi: 10.1161/CIRCGEN.121.003530.
PMID: 35579515
Cortés-Martín J,
Díaz-Rodríguez L,
Piqueras-Sola B,
Rodríguez-Blanque R,
Bermejo-Fernández A,
Sánchez-García JC
Int J Environ Res Public Health
2020 Aug 25;17(17)
doi: 10.3390/ijerph17176174.
PMID: 32854429 Free PMC Article
Waung MW,
Taylor A,
Qualmann KJ,
Burish MJ
JAMA Neurol
2020 Jul 1;77(7):887-896.
doi: 10.1001/jamaneurol.2020.0682.
PMID: 32310255 Free PMC Article
Gasser S,
Reichenspurner H,
Girdauskas E
BMC Cardiovasc Disord
2018 Feb 27;18(1):41.
doi: 10.1186/s12872-018-0755-y.
PMID: 29486707 Free PMC Article
Berciano J,
García A,
Gallardo E,
Peeters K,
Pelayo-Negro AL,
Álvarez-Paradelo S,
Gazulla J,
Martínez-Tames M,
Infante J,
Jordanova A
J Neurol
2017 Aug;264(8):1655-1677.
Epub 2017 Mar 31
doi: 10.1007/s00415-017-8474-3.
PMID: 28364294

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Autosomal dominant; Autosomal Dominant
Autosomal dominant inheritance (263681008); Autosomal dominant (263681008); AD - Autosomal dominant (263681008)

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Home Browse by Disease Kabuki Syndrome Kabuki Syndrome
Kabuki syndrome is a rare disorder that affects multiple parts of the body. It is present from birth. Specific symptoms and severity can vary. Features often include a characteristic facial appearance; skeletal abnormalities; short stature; heart defects; and intellectual disability. Other signs and symptoms may include seizures, microcephaly, weak muscle tone (hypotonia), eye problems, cleft palate, and dental problems. A variety of other health problems may also occur. Kabuki syndrome is most often caused by a genetic change in the KMT2D gene, and inherited in an autosomal dominant manner. Some cases are due to a genetic change in the KDM6A gene and are inherited in an X-linked dominant manner.
In the U.S., this disease is estimated to be less than
Population Estimate Symptoms Onset Symptoms Cause Specialists Genetic Testing FDA Approved Drugs * Patient Organizations Resources
*Data may be currently unavailable to GARD at this time.
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
The common ages for symptoms to begin in this disease are shown above by the colored icon(s).
This information comes from Orphanet
These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom. This disease might cause these symptoms:
Synonym: Dermatoglyphic Abnormalities
Synonym: Abnormally Shaped Vertebrae
Synonym: Abnormal Localisation of Kidneys
Synonym: Whites of Eyes Are A Bluish-Gray Colour
Synonym: Sagittal Clefting of Vertebrae
Synonym: Decrease in Size of The Outer Layer of The Brain Due to Loss of Brain Cells
Synonym: Ectopic Kidney with Fusion
Synonym: Duplicated Renal Collecting System
Synonym: Too Much Cerebrospinal Fluid in The Brain
Synonym: Missing between One and Six Teeth
Synonym: Joints Move Beyond Expected Range of Motion
Synonym: Decreased Corneal Diameter
Synonym: Involuntary, Rapid, Rhythmic Eye Movements
Synonym: Skin Tag on The Posterior Cheek
Synonym: Susceptibility to Infection
Synonym: Sensorineural Hearing Loss
Synonym: Shortened Middle Finger Bones
Synonym: Stature below 3rd Percentile
Synonym: Ureteropelvic Junction Stenosis
All Systems Cardiovascular System Digestive System Endocrine System Immune System Musculoskeletal System Nervous System Skin System
The cardiovascular system is made up of the heart and blood vessels, including the arteries, veins, and capillaries. Common symptoms of problems in the cardiovascular system include high blood pressure, heart rate or heart rhythm problems, chest pain or discomfort, pain or tingling in the hands or feet, and fatigue. Diseases of the cardiovascular system may be diagnosed and treated by a cardiologist.
Medical Term Abnormal cardiac septum morphology
Abnormal form of the vertebral bodies
Abnormal cardiac septum morphology Abnormal dermatoglyphics Abnormal form of the vertebral bodies Abnormal localization of kidney Abnormality of dental morphology Abnormality of immune system physiology Abnormality of the dentition Blue sclerae Butterfly vertebrae Cerebral cortical atrophy Cleft palate Coarctation of aorta Coloboma Conductive hearing impairment Congenital diaphragmatic hernia Crossed fused renal ectopia Cryptorchidism Duplicated collecting system Eversion of lateral third of lower eyelids Failure to thrive Feeding difficulties Hemivertebrae High palate Highly arched eyebrow Hip dislocation Hydrocephalus Hydronephrosis Hypodontia Hypoplasia of penis Hypospadias Hypotonia Joint hyperflexibility Lip pit Long eyelashes Macrotia Mask-like facies Microcephaly Microcornea Microdontia Nystagmus Obesity Oral cleft Preauricular skin tag Precocious puberty Protruding ear Ptosis Recurrent infections Renal hypoplasia/aplasia Scoliosis Seizure Sensorineural hearing impairment Short 5th finger Short columella Short middle phalanx of finger Short stature Small hand Sparse lateral eyebrow Strabismus Ureteropelvic junction obstruction Ventriculomegaly Vertebral clefting Widely spaced teeth
This information comes from the Human Phenotype Ontology (HPO)
Good communication between the patient, family, and medical team can lead to an accurate diagnosis. In addition, health care decisions can be made together which improves the patient’s well-being and quality of life.
The National Library of Medicine's Unified Medical Language System (UMLS) is used to classify and organize diseases and disease categories.
Reference: UMLS Vocabulary Standards and Mappings Downloads
Data from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.

Reference: Access aggregated data from Orphanet at Orphadata . Orphanet is an online database of rare diseases and orphan drugs. Copyright, INSERM 1997. Reference: Download data from HPO . Kohler S, Gargano M, Matentzoglu N, et al., The Human Phenotype Ontology in 2021 , Nucleic Acids Research, Volume 49, Issue D1, 8 January 2021, Pages D1207–D1217.
Data from the National Center for Biotechnology Information's MedGen is used to provide genetic testing information available for a disease.

Reference: MedGen Data Downloads and FTP
Data from the National Library of Medicine's Newborn Screening Coding and Terminology Guide is used to note if a disease is included on Federal or State recommendations for newborn screening testing.

Reference: Data from the Newborn Screening Coding and Terminology Guide is available here. Downs SM, van Dyck PC, Rinaldo P, et al. Improving newborn screening laboratory test ordering and result reporting using health information exchange . J Am Med Inform Assoc. 2010 Jan-Feb;17(1):13-8.
Content References: National Academies of Sciences, Engineering, and Medicine. 2015. Improving Diagnosis in Health Care . Washington, DC: The National Academies Press. U.S. Department of Health and Human Services, Office of Disease Prevention and Health Promotion. (2015). Health Literacy Online: A Guide for Simplifying the User Experience .
GARD Genetic and Rare Diseases Information Center
Many rare diseases have limited information. Currently GARD is able to provide the following information for this disease:
An anomaly of the intra-atrial or intraventricular septum.
An anomaly of the intra-atrial or intraventricular septum.
Kabuki syndrome is a genetic disease, which means that it is caused by one or more genes not working correctly.
Disease causing variants in the following gene(s) are known to cause this disease: KMT2D, KDM6A
All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):
Describe details about the symptoms. Because there may be many different causes for a single symptom, it is best not to make a conclusion about the diagnosis. The detailed descriptions help the medical provider determine the correct diagnosis. To help describe a symptom:

Working with a medical team to find a diagnosis can be a long process that will require more than one appointment. Make better health decisions by being prepared for the first visit with each member of the medical team.

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PLoS One

PMC4229186

Published online 2014 Nov 12. doi: 10.1371/journal.pone.0112430

1
Depts. of Developmental Biology and Genetics, Stanford University, Stanford, CA, United States of America

2
Institute for Systems Biology, Seattle, WA, United States of America

3
Gerontology Research Group, Los Angeles, CA, United States of America

4
David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, United States of America

UCL Institute of Neurology, United Kingdom

Competing Interests: The authors have declared that no competing interests exist.
Received 2014 Jul 22; Accepted 2014 Sep 29.
This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
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Characteristics of supercentenarians.
Age is age at death or last reported age alive. Age at (blood) draw was validated as described in methods. Sex is female (F) or male (M). Race (or ethnicity) is Caucasian (CAU), Hispanic (HIS) or African-American (AA). Major age-related diseases were known events of cancer, cardiovascular disease, stroke, Alzheimer’s or type 2 diabetes at blood draw (i.e. enrollment). Functional status is indicated as: ••• (good), •• (moderate) or • (poor). Hearing: ••• good in both ears; •• impaired in one, good in other ear; • impaired in both ears. Vision: ••• could read newspaper; •• could watch television; • could do neither. Teeth: ••• had teeth of their own; • no teeth of their own. Communication: ••• talked independently and coherently; •• slow speech, needed interpreter; • incoherent or no communication. Mobility: ••• could walk; •• uses wheelchair; • bed confined.
Baseline statistics of follow-up cohorts.
Ages for Georgia Centenarian Study subjects were obtained from Corriell website. Number of females from NHLBI cohort was derived for X chromosome genotypes. Age information for NHLBI controls was obtained from www.nhlbi.nih.gov/recovery/media/NHLBI_DNA_cohort.htm .
Protein-altering variants in TSHZ3 in Georgia Centenarian cohort.
Position (bp) on chromosome 19 (Chr19) of variant, reference (Ref) and Variant (Var) allele, Amino Acid (AA) position, AA1 (ref), AA2 (var), Supercentenarian carriers (shown for reference), Centenarians carriers, Nonagenarians carriers, Minor allele frequency (MAF) in 1000G EUR.
1.
Coles LS, Muir ME, Young RD (2014) Validated worldwide supercentenarians, living and recently deceased . Rejuvenation Res
17 : 80–83
10.1089/rej.2014.1553
[ PubMed ] [ CrossRef ] [ Google Scholar ]
2.
Evert J, Lawler E, Bogan H, Perls T (2003) Morbidity profiles of centenarians: survivors, delayers, and escapers . J Gerontol A Biol Sci Med Sci
58 : 232–237. [ PubMed ] [ Google Scholar ]
3.
Terry DF, Wilcox MA, McCormick MA, Perls TT (2004) Cardiovascular disease delay in centenarian offspring . J Gerontol A Biol Sci Med Sci
59 : 385–389. [ PubMed ] [ Google Scholar ]
4.
Willcox DC, Willcox BJ, Wang N-C, He Q, Rosenbaum M, et al. (2008) Life at the extreme limit: phenotypic characteristics of supercentenarians in Okinawa . J Gerontol A Biol Sci Med Sci
63 : 1201–1208. [ PubMed ] [ Google Scholar ]
5.
Andersen SL, Sebastiani P, Dworkis DA, Feldman L, Perls TT (2012) Health span approximates life span among many supercentenarians: compression of morbidity at the approximate limit of life span . J Gerontol A Biol Sci Med Sci
67 : 395–405
10.1093/gerona/glr223
[ PMC free article ] [ PubMed ] [ CrossRef ] [ Google Scholar ]
6.
Pavlidis N, Stanta G, Audisio RA (2012) Cancer prevalence and mortality in centenarians: a systematic review . Crit Rev Oncol Hematol
83 : 145–152
10.1016/j.critrevonc.2011.09.007
[ PubMed ] [ CrossRef ] [ Google Scholar ]
7.
Herskind AM, McGue M, Holm NV, Sørensen TI, Harvald B, et al. (1996) The heritability of human longevity: a population-based study of 2872 Danish twin pairs born 1870–1900 . Hum Genet
97 : 319–323. [ PubMed ] [ Google Scholar ]
8.
Schoenmaker M, de Craen AJM, de Meijer PHEM, Beekman M, Blauw GJ, et al. (2006) Evidence of genetic enrichment for exceptional survival using a family approach: the Leiden Longevity Study . Eur J Hum Genet EJHG
14 : 79–84
10.1038/sj.ejhg.5201508
[ PubMed ] [ CrossRef ] [ Google Scholar ]
9.
vB Hjelmborg J, Iachine I, Skytthe A, Vaupel JW, McGue M, et al. (2006) Genetic influence on human lifespan and longevity . Hum Genet
119 : 312–321
10.1007/s00439-006-0144-y
[ PubMed ] [ CrossRef ] [ Google Scholar ]
10.
Sebastiani P, Perls TT (2012) The genetics of extreme longevity: lessons from the new England centenarian study . Front Genet
3 : 277
10.3389/fgene.2012.00277
[ PMC free article ] [ PubMed ] [ CrossRef ] [ Google Scholar ]
11.
Perls TT, Wilmoth J, Levenson R, Drinkwater M, Cohen M, et al. (2002) Life-long sustained mortality advantage of siblings of centenarians . Proc Natl Acad Sci U S A
99 : 8442–8447
10.1073/pnas.122587599
[ PMC free article ] [ PubMed ] [ CrossRef ] [ Google Scholar ]
12.
Perls T, Kohler IV, Andersen S, Schoenhofen E, Pennington J, et al. (2007) Survival of parents and siblings of supercentenarians . J Gerontol A Biol Sci Med Sci
62 : 1028–1034. [ PMC free article ] [ PubMed ] [ Google Scholar ]
13.
Rajpathak SN, Liu Y, Ben-David O, Reddy S, Atzmon G, et al. (2011) Lifestyle factors of people with exceptional longevity . J Am Geriatr Soc
59 : 1509–1512
10.1111/j.1532-5415.2011.03498.x
[ PMC free article ] [ PubMed ] [ CrossRef ] [ Google Scholar ]
14.
Suh Y, Atzmon G, Cho M-O, Hwang D, Liu B, et al. (2008) Functionally significant insulin-like growth factor I receptor mutations in centenarians . Proc Natl Acad Sci U S A
105 : 3438–3442
10.1073/pnas.0705467105
[ PMC free article ] [ PubMed ] [ CrossRef ] [ Google Scholar ]
15.
Willcox BJ, Donlon TA, He Q, Chen R, Grove JS, et al. (2008) FOXO3A genotype is strongly associated with human longevity . Proc Natl Acad Sci U S A
105 : 13987–13992
10.1073/pnas.0801030105
[ PMC free article ] [ PubMed ] [ CrossRef ] [ Google Scholar ]
16.
Nebel A, Kleindorp R, Caliebe A, Nothnagel M, Blanché H, et al. (2011) A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals . Mech Ageing Dev
132 : 324–330
10.1016/j.mad.2011.06.008
[ PubMed ] [ CrossRef ] [ Google Scholar ]
17.
Deelen J, Beekman M, Uh H-W, Helmer Q, Kuningas M, et al. (2011) Genome-wide association study identifies a single major locus contributing to survival into old age; the APOE locus revisited . Aging Cell
10 : 686–698
10.1111/j.1474-9726.2011.00705.x
[ PMC free article ] [ PubMed ] [ CrossRef ] [ Google Scholar ]
18.
Sebastiani P, Solovieff N, Dewan AT, Walsh KM, Puca A, et al. (2012) Genetic signatures of exceptional longevity in humans . PloS One
7 : e29848
10.1371/journal.pone.0029848
[ PMC free article ] [ PubMed ] [ CrossRef ] [ Google Scholar ]
19.
Sebastiani P, Riva A, Montano M, Pham P, Torkamani A, et al. (2012) Whole genome sequences of a male and female supercentenarian, ages greater than 114 years . Front Genet
2 : 90
10.3389/fgene.2011.00090
[ PMC free article ] [ PubMed ] [ CrossRef ] [ Google Scholar ]
20.
Ye K, Beekman M, Lameijer E-W, Zhang Y, Moed MH, et al. (2013) Aging as accelerated accumulation of somatic variants: whole-genome sequencing of centenarian and middle-aged monozygotic twin pairs . Twin Res Hum Genet Off J Int Soc Twin Stud
16 : 1026–1032
10.1017/thg.2013.73
[ PubMed ] [ CrossRef ] [ Google Scholar ]
21.
Holstege H, Pfeiffer W, Sie D, Hulsman M, Nicholas TJ, et al. (2014) Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis . Genome Res
24 : 733–742
10.1101/gr.162131.113
[ PMC free article ] [ PubMed ] [ CrossRef ] [ Google Scholar ]
22.
Untergasser A, Cutcutache I, Koressaar T, Ye J, Faircloth BC, et al. (2012) Primer3–new capabilitie
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