Possible Causes for autosomal dominant Hypercholesterolemia RATIONALE: Autosomal-dominant hypercholesterolemia (ADH) is characterized by elevated low-density lipoprotein cholesterol levels and increased risk for coronary vascular disease [ncbi.nlm.nih.gov] Severe hypercholesterolemia associated or not with xanthomas in a child may suggest the diagnosis of homozygous autosomal dominant hypercholesterolemia (ADH), autosomal recessive [ncbi.nlm.nih.gov] Alagille syndrome is a rare autosomal-dominant genetic disorder caused by defects in the Notch signaling pathway, which involves multiple organ systems. [ncbi.nlm.nih.gov] Ichthyosis Vulgaris Abstract Five patients with autosomal dominant ichthyosis vulgaris (ADI) were studied to see whether the abnormal keratinization was associated with disturbances of the appearance [ncbi.nlm.nih.gov] Wells RS, Kerr CB (1966) Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. [link.springer.com] This condition is inherited in an autosomal dominant pattern. [monarchinitiative.org] Familial Hypercholesterolemia Type 1 Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol [ncbi.nlm.nih.gov] Abstract Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol [dx.doi.org] Heterozygous Familial Hypercholesterolemia HeFH is an autosomal dominant disorder; if one inherits the mutated gene that causes high cholesterol levels from only one parent, HeFH will be inherited. [patientworthy.com] In this autosomal dominant disease, the concentration of plasma low-density lipoprotein cholesterol (LDL-C) is strongly elevated since birth. [mdpi.com] As a genetic condition, it runs in the family–specifically, FH is an autosomal dominant genetic disorder, meaning that only one parent needs to have the condition for his [thefhfoundation.org] Familial Adenomatous Polyposis English familial adenomatous polyposis autosomal dominant disease that is has material basis in mutations in the APC gene and involves formation of numerous polyps in the [wikidata.org] Familial adenomatous polyposis is a rare autosomal dominant intestinal syndrome with a high rate of malignant transformation. [ncbi.nlm.nih.gov] The syndrome is inherited by an autosomal dominant gene, the adenomatous polyposis coli (APC) gene. [ncbi.nlm.nih.gov] Lynch Syndrome Type 1 Summary Currarino syndrome is a rare autosomal dominant disorder and the human homeobox gene, HLXB9, is the major causative locus. [jmg.bmj.com] Lynch syndrome (hereditary non-polyposis colorectal cancer; HNPCC) is an autosomal dominant cancer predisposition syndrome with high penetrance. [ncbi.nlm.nih.gov] Lynch syndrome is an autosomal-dominant cancer syndrome that can be identified with microsatellite instability molecular tests or immunohistochemical stains on pathologic [ncbi.nlm.nih.gov] Acanthosis Nigricans Acanthosis nigricans has been described in several autosomal dominant skeletal dysplasia syndromes due to germline FGFR3 mutations, but rarely specifically in patients with [ncbi.nlm.nih.gov] Unilateral acanthosis nigricans Unilateral acanthosis nigricans, sometimes referred to as nevoid acanthosis nigricans, is believed to be inherited as an autosomal dominant [emedicine.com] dominant fashion with variable phenotypic penetrance. [emedicine.com] Hypertrophic Cardiomyopathy This report describes the novel sampling of autosomal dominant polycystic kidney disease (ADPKD) combined with hypertrophic cardiomyopathy (HCM). [ncbi.nlm.nih.gov] Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease with variable clinical features that is inherited as autosomal dominant with variable penetrance [ncbi.nlm.nih.gov] Autosomal dominant disorders that present in the young with LVH include Noonan's syndrome. [patient.info] Exostosis (OBQ12.20) Which of the following radiographs (Figures A-E) is consistent with a disorder that is inherited in an autosomal-dominant inheritance pattern? [orthobullets.com] dominant manner? [orthobullets.com] Risk factors Inheritance is autosomal dominant, with near-complete penetrance. [patient.info] Restless Legs Syndrome This is the third reported autosomal-dominant locus for RLS and the first autosomal-dominant RLS locus in the French-Canadian population. [ncbi.nlm.nih.gov] This is the second RLS locus identified so far and the first consistent with an autosomal dominant inheritance pattern. [doi.org] They detected an autosomal-dominant locus mapping to chromosome 20p13, with a maximum multipoint lod score of 3.86 at marker D20S849. [ncbi.nlm.nih.gov] Congenital Deafness Homepage Rare diseases Search Search for a rare disease Autosomal dominant optic atrophy and congenital deafness ORPHA:3212 Synonym(s): Konigsmark-Knox-Hussels syndrome Prevalence [orpha.net] The DFNA25 locus for autosomal dominant nonsyndromic hereditary hearing loss has been mapped to 12q21-q24 by linkage analysis. [ncbi.nlm.nih.gov] These results provide evidence that haploinsufficiency for a gene or genes in 12q22-q24.1 is associated with autosomal dominant deafness. [ncbi.nlm.nih.gov] Multiple Self-Healing Squamous Epithelioma Abstract Multiple self-healing squamous epithelioma (MSSE), also known as Ferguson-Smith Disease, is a rare cancer-associated genodermatosis with an autosomal dominant inheritance [ncbi.nlm.nih.gov] AB - Multiple self-healing squamous epithelioma - Ferguson-Smith disease (MSSE) is an autosomal dominant inherited disease with multiple, recurrent, histologically malignant [research.regionh.dk] Multiple self-healing squamous epithelioma (MSSE; MIM 132800), also known as Ferguson-Smith disease, is an autosomal dominant skin disorder caused by mutations in TGFBR1. [ctgt.net] Ondine Syndrome Disease Type of connection Hirschsprung disease Haddad syndrome Waardenburg-Shah syndrome Neuroblastoma WAGR syndrome Pilocytic astrocytoma Autosomal dominant nonsyndromic [csbg.cnb.csic.es] dominant or Not applicable Age of onset: Infancy, Neonatal ICD-10: G47.3 OMIM: 209880 UMLS: C1275808 MeSH: - GARD: 8535 MedDRA: 10007982 10066131 The documents contained [orpha.net] […] agammaglobulinemia Precursor B-cell acute lymphoblastic leukemia 5q14.3 microdeletion syndrome Early-onset autosomal dominant Alzheimer disease Hereditary cerebral hemorrhage [csbg.cnb.csic.es] Hereditary Leiomyomatosis and Renal Cell Cancer The clinical diagnosis of the autosomal dominant hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome was confirmed by identification of a fumarate hydratase gene [ncbi.nlm.nih.gov] HLRCC syndrome is a rare autosomal dominant disease, with patients at increased risk for cutaneous leiomyomas, early-onset uterine leiomyomas and aggressive renal carcinoma [ncbi.nlm.nih.gov] Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant syndrome characterized by skin piloleiomyomas, uterine leiomyomas and papillary type 2 renal [ncbi.nlm.nih.gov] X-Linked Parkinsonism with Spasticity Dominant Whispering Dysphonia Reported in one large Australian family DYT-5 A (GCH1) B (TH) 14q22.1-q22.2 Dopa Responsive Dystonia; Segawa Syndrome A is Autosomal Dominant [cmdg.org] Dominant Atypical Parkinson Disease Parkinson Disease 1, Autosomal Dominant Lewy Body PARK1 168601 Genetic Test Registry Parkinson Disease 2, Autosomal Recessive Juvenile [ukgtn.nhs.uk] He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.com] Retinitis Pigmentosa In some patients with autosomal dominant retinitis pigmentosa, the disease is caused by one of a variety of mutations of the rhodopsin gene. [ncbi.nlm.nih.gov] Genetic heterogeneity is present in autosomal dominant retinitis pigmentosa. [doi.org] Our data identified two new autosomal dominant mutations in PRPF31, expanding the mutational spectrum of this gene. [ncbi.nlm.nih.gov] Benign Adult Familial Myoclonic Epilepsy Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME): Probable first family from India. [annalsofian.org] Multipoint linkage analysis was performed using LINKMAP 5.1 software assuming an autosomal dominant trait with 0.99 penetrance and frequency of 0.001. [ncbi.nlm.nih.gov] Abstract Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant condition characterized by cortical tremor and generalized seizures, mapped on chromosome [ncbi.nlm.nih.gov] Generalized Epilepsy with Febrile Seizures Plus Inheritance is generally autosomal dominant with incomplete penetrance, but this may not be the only situation. [epilepsy.com] Inheritance was autosomal dominant with a penetrance of about 80%. A variety of epilepsy phenotypes occurred predominantly during childhood. [ncbi.nlm.nih.gov] Pedigree analysis indicated autosomal dominant transmission. [ncbi.nlm.nih.gov] Familial Infantile Myoclonic Epilepsy Autosomal recessive nonsyndromic hearing loss, DFNB86. Profound prelingual deafness. Autosomal dominant nonsyndromic hearing loss, DFNA65. [ncbi.nlm.nih.gov] […] recessive non-syndromic hearing loss (DFNB86; AR), and autosomal dominant non-syndromic hearing loss (DFNA65; AD). [f1000research.com] Deafness, autosomal dominant, 65 (DFNA65) [MIM:616044]: A form of non-syndromic sensorineural hearing loss. [genecards.org] Benign Familial Infantile Epilepsy Type 4 Abstract Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder that occurs in infancy and has autosomal-dominant inheritance. [ncbi.nlm.nih.gov] The condition is inherited with an autosomal dominant transmission. There are several genes responsible for this syndrome, on chromosomes 2, 16 and 19. [en.wikipedia.org] The mode of inheritance of BFIS usually is autosomal dominant, reduced penetrance has been reported. [molgen.ua.ac.be] Dilated Cardiomyopathy Type 3B WHO-ICD-10 version:2010 Congenital malformations, deformations and chromosomal abnormalities Congenital malformations of the circulatory system Mode of Inheritance Autosomal [cags.org.ae] 6 Bauer R...Straub V 19259135 2009 32 Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy [malacards.org] The pattern of inheritance was autosomal dominant in most families. [revespcardiol.org] Familial Medullary Thyroid Carcinoma Abstract Medullary thyroid carcinoma (MTC) occurs as a component of three well-described autosomal dominant familial cancer syndromes. [ncbi.nlm.nih.gov] Abstract The syndrome of familial medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid hyperplasia is inherited as an autosomal dominant trait, and is characterized [ncbi.nlm.nih.gov] Abstract Multiple endocrine neoplasia type 2A (MEN2A) and familial medullary thyroid carcinoma (FMTC) are autosomal dominant inherited cancer syndromes with incomplete penetrance [ncbi.nlm.nih.gov] Non-Syndromic Ocular Stickler Syndrome Type 1 Graefe’s Arch Clin Exp Ophthalmol 233:772–776 Titel Autosomal dominant rhegmatogenous retinal detachment—clinical appearance and surgical outcome Autoren: Thomas Theelen Sioe [springermedizin.de] Homepage Rare diseases Search Search for a rare disease Autosomal dominant rhegmatogenous retinal detachment Disease definition A rare, hereditary, non-syndromic form of vitreoretinopathy [orpha.net] Invest Ophthalmol Vis Sci 44:4035–4043 CrossRefPubMed Go SL, Maugeri A, Mulder JJ, van Driel MA, Cremers FP, Hoyng CB (2003) Autosomal dominant rhegmatogenous retinal detachment [springermedizin.de] Hereditary Spherocytosis In the autosomal dominant form of HS, red cell spectrin levels range from 60-80% of normal. [emedicine.com] Band 3 deficiency Band 3 deficiency has been recognized in 10-20% of patients with mild-to-moderate autosomal dominant HS. [emedicine.com] Of particular interest, 75-80% of patients with autosomal dominant HS have combined spectrin and ankyrin deficiency and the two proteins are diminished equally. [emedicine.com] Marfan Syndrome It has been reported that mutations in the fibrillin‑1 gene (FBN1) account for 90% of autosomal dominant cases of MFS. [ncbi.nlm.nih.gov] dominant trait. [icd9data.com] Marfan syndrome is an autosomal-dominant genetic disorder that affects connective tissues. [ncbi.nlm.nih.gov] Catecholaminergic Polymorphic Ventricular Tachycardia Autosomal dominant inheritance was seen in 8% of the patients' families. beta Blockers completely controlled CPVT in only 31% of cases. [ncbi.nlm.nih.gov] When CPVT results from mutations in the RYR2 gene, it has an autosomal dominant pattern of inheritance. [cpvt.weebly.com] Variants in the RYR2 gene can be found in the autosomal dominant form of the disease, whereas for the autosomal recessive form, they can be found in the CASQ2 gene. [icm-mhi.org] Progressive Myoclonic Epilepsy Type 7 Heritability: Autosomal dominant inheritance Clinical Modifiers: Progressive AKA: progressive myoclonus epilepsy type 7, progressive myoclonic epilepsy due to KV3.1 deficiency [monarchinitiative.org] dominant Age of onset: Childhood ICD-10: G40.3 OMIM: 616187 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes [orpha.net] New chapters devoted exclusively to Panayiotopoulos syndrome, myoclonic status epilepticus, and autosomal dominant focal epilepsies, among others, cover even more ground than [books.google.de] Dilated Cardiomyopathy Type 2B Dilated cardiomyopathy, sudden cardiac death, hypoplastic discs, and retinal detachment: a new autosomal dominant syndrome J A Goodship 1, J O'Sullivan 2, P F Chinnery 3, [jmg.bmj.com] Autosomal dominant or X-linked? [thecardiologyadvisor.com] Cutis laxa, autosomal dominant 3 616603 138250 Autosomal dominant ALDH18A1 10q24.1 Spastic paraplegia 9A, autosomal dominant 601162 138250 Autosomal dominant ALDH3A2 17p11.2 [mnglabs.com] Benign Lipomatous Neoplasm This patient also had coincidental autosomal dominant polycystic kidney disease. [ncbi.nlm.nih.gov] Autosomal-dominant inheritance also may occur, as illustrated in the current case report. [mdedge.com] A patient with familial angiolipomatosis in whom an autosomal dominant mode of inheritance could be established is described. [ncbi.nlm.nih.gov] Erythropoietic Protoporphyria The boundary between autosomal dominant and autosomal recessive inheritance may not always be distinct. [ncbi.nlm.nih.gov] Erythropoietic protoporphyria (EPP) is an autosomal dominant disorder of heme synthesis, causing excess of protoporphyrin in blood, skin, liver, and other organs. [ncbi.nlm.nih.gov] Erythropoietic protoporphyria (EPP) is a rare autosomal dominant disorder of haem biosynthesis resulting from a partial decrease in ferrochelatase (FECH) activity which leads [ncbi.nlm.nih.gov]
