Autosomal Dominant with Complete Penetrance Causes & Reasons

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Autosomal Dominant with Complete Penetrance Symptom Checker: Possible causes include Achondroplasia. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.

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Possible Causes

Achondroplasia

It is inherited as an autosomal dominant disease with essentially complete penetrance. [ncbi.nlm.nih.gov]

Achondroplasia is inherited as an autosomal dominant with essentially complete penetrance. [2] Patients demonstrate unique radioclinical features that are readily detectable [doi.org]

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Gorlin Syndrome

Gorlin syndrome, also known as Basal Cell Nevus Syndrome (BCNS), is a rare autosomal dominant disorder with complete penetrance and variable expressivity. [ncbi.nlm.nih.gov]

This disease has an autosomal dominant inheritance pattern with complete penetrance and extremely variable expressivity. [moh-it.pure.elsevier.com]

[…] with complete penetrance and variable expressivity. [ncbi.nlm.nih.gov]

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Exostosis

Risk factors Inheritance is autosomal dominant, with near-complete penetrance. [patient.info]

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Polydactyly of a Biphalangeal Thumb

dominant inheritance with reduced penetrance Preaxial polydactyly Preaxial polydactyly type I Complete or partial duplication of a normal biphalangeal thumb Varies from extra [en.wikibooks.org]

dominant with complete penetrance Sporadic cases occur in 1/10,000 births Mirror hands and feet Polydactyly of hand or foot with appearance of mirror duplication around midline [en.wikibooks.org]

[…] distal phalanx and nail on fifth digit 10 times more common in African-Americans than Caucasians Unilateral in 2/3 of cases, affects left side twice as commonly as right Autosomal [en.wikibooks.org]

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Autosomal Dominant Prognathism

dominant disorder with complete penetrance and variable expressivity. [mjdrdypu.org]

Crouzon syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. [dolphintherapy.eu]

Most striking characteristic is melanotic macular pigmentation on eyes, nose and mouth, Lips, Buccal mucosa of 98% pt (diminishes w/age) Autosomal Dominant Inheritance, complete [quizlet.com]

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Holt Oram Syndrome

In contrast to the general autosomal dominant inheritance with complete penetrance, our observation suggests a paternal mutation, resulting in mosaicism, probably restricted [ncbi.nlm.nih.gov]

Holt-Oram Syndrome is an autosomal dominant condition with complete penetrance and which involves upper limb skeletal and cardiac abnormalities. [ncbi.nlm.nih.gov]

The Holt-Oram syndrome or atriodigital dysplasia is an autosomal dominant disorder with near complete penetrance and variable expression, caused by mutations of the TBX5 gene [ncbi.nlm.nih.gov]

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Calcium Pyrophosphate Arthropathy

Some cases are familial, usually transmitted in an autosomal dominant pattern, with complete penetration by age 40. [merckmanuals.com]

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Alzheimer Disease

OBJECTIVE: To perform PGD for early-onset Alzheimer disease (AD), determined by nearly completely penetrant autosomal dominant mutation in the amyloid precursor protein (APP [ncbi.nlm.nih.gov]

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Fibrodysplasia Ossificans Progressiva

Abstract Fibrodysplasia Ossificans Progressiva (FOP) is a rare hereditary connective tissue disease, genetically inherited as an autosomal dominant trait with complete penetrance [ncbi.nlm.nih.gov]

The disease is determined as an autosomal dominant trait which has complete penetrance but variable expressivity. [ncbi.nlm.nih.gov]

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Hereditary Hyperekplexia

Hyperekplexia is usually familial, most often autosomal dominant with complete penetrance and variable expression. [pmj.bmj.com]

dominant manner and with complete penetrance of the mutant GLRA1 allele, as all the R271Q mutation carriers were affected. [jmg.bmj.com]

dominant with complete penetrance and variable expression. 23 Autosomal recessive form and sporadic cases have also been described. 24 The genetic basis is a mutation usually [pmj.bmj.com]

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Familial Adenomatous Polyposis

FAP is an autosomal dominant inherited disease with near complete penetrance. [clinicaladvisor.com]

Familial polyposis syndromes have autosomal dominant inheritance with almost complete penetrance but marked variation in expression. [patient.info]

Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome with near complete penetrance whereby hundreds to thousands of polyps develop in the colon. [clinicaladvisor.com]

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Ichthyosis Vulgaris

Genetically, IV is thought to be an autosomal dominant disorder with virtually complete penetrance (Wells and Kerr 1966). [nature.com]

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Hand-Foot-Genital Syndrome

dominant pattern with complete penetrance. [oxfordindex.oup.com]

[…] and HOXC13, in which abnormalities occur with homozygous mutations, all of these human syndromes are associated with heterozygous HOX mutations that are inherited in an autosomal [oxfordindex.oup.com]

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Polyarthritis

Axenfled-Rieger syndrome is autosomal dominant in most cases, but it can also occur sporadically. [5] It has complete penetrance with variable expressivity and is associated [eyewiki.aao.org]

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Hypertrophic Cardiomyopathy

dominant trait, as it is in human FCHM, with penetrance that increases to 100% in adulthood. [doi.org]

Although penetrance may not be 100% in some human families with FHCM, often it is complete, as in our cats. 17 18 19 HCM in our colony of Maine coon cats has most of the common [doi.org]

[…] occurring and heritable form of HCM has been identified. 12 13 14 15 However, a heritable basis for HCM in pigs is suspected. 16 HCM in these cats appears to be inherited as an autosomal [doi.org]

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Essential Tremor

Traditionally, ET was viewed as autosomal dominant with complete penetrance by age 65. [ncbi.nlm.nih.gov]

Segregation analysis indicated autosomal dominant inheritance and penetrance was virtually complete by the age of 65 years. [ncbi.nlm.nih.gov]

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Crouzon Syndrome

dominant, with complete penetrance and variable expressivity. [6] In about 25% of cases, a negative family history of Crouzon syndrome is observed, with the condition in [emedicine.com]

[…] craniosynostosis, with the estimated birth prevalence ranging widely, from 1 in 25,000 in early studies [3] to 1 in 60,000 in later studies. [4, 5] Inheritance of Crouzon syndrome is autosomal [emedicine.com]

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Gardner Syndrome

The documented frequency of Gardner's syndrome is in between 1 in 1400 and 12000 live births.[2] The inheritance pattern is autosomal dominant with complete penetrance. [contempclindent.org]

dominant disorder with complete penetrance and variable expression. [jiaomr.in]

The disease is due to a single pleiotropic gene and has an autosomal dominant pattern of inheritance with complete penetrance and variable expression. [jpeds.com]

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Habrodysplasia

The disease is determined as an autosomal dominant trait which has complete penetrance but variable expressivity. [jmg.bmj.com]

It is an inherited autosomal dominant disorder with complete penetration but variable gene expressivity. [slideshare.net]

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Polymorphous Corneal Dystrophy

Inheritance of the mouse PPCD1 phenotype is autosomal dominant, with complete penetrance on the sensitive DBA/2J background and decreased penetrance on the C57BL/6J background [ncbi.nlm.nih.gov]

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Dehydration

Autosomal dominant inheritance with complete penetrance was assumed, and the frequency of the disease allele was set at 0.0001. [ahajournals.org]

Phenotypically, Char syndrome has been notable for the autosomal dominant inheritance of PDA and facial dysmorphism. [ahajournals.org]

Analyses for the present study were consistent with complete disease penetrance and established that the phenotype varied, even within families. [ahajournals.org]

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Lamellar Cataract

The most frequent mode of transmission is autosomal dominant with complete penetrance. [emedicine.medscape.com]

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Familial Recurrent Peripheral Facial Palsy

We here describe a three-generation family with six affected individuals where IFP segregates in an autosomal dominant manner with high or complete penetrance. 2. [hindawi.com]

The mode of inheritance of IFP has previously been suggested as autosomal dominant with low or variable penetrance, but the present family indicates an autosomal dominant [hindawi.com]

[…] trait with high or complete penetrance. [hindawi.com]

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Basal Cell Carcinoma

dominant disorder with an estimated prevalence of 1 in 57,000 individuals.[ 36 ] The syndrome is notable for complete penetrance and high levels of variable expressivity, [cancer.gov]

Associated With a Predisposition to Basal Cell Carcinoma Basal cell nevus syndrome BCNS, also known as Gorlin Syndrome, Gorlin-Goltz syndrome, and nevoid BCC syndrome, is an autosomal [cancer.gov]

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Intestinal Pseudo-Obstruction

DISCUSSION An autosomal dominant mode of inheritance with complete penetrance is clear in the familial cases with ACTG2 pathogenic variants. [journals.lww.com]

Autosomal recessive inheritance of CIPO is highly likely in children of consanguineous unions (17,18) or in affected siblings with healthy parents (bearing in mind gonadal [journals.lww.com]

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Infantile Convulsions and Choreoathetosis

dominant fash-complete penetrance (Valente et al., 2000).terogeneity is less likely, and sporadic casesal PKC with seemingly autosomal reces-tance may be explained by reduced [documents.tips]

[…] dependingaturation, results in different neurologicalin the ICCA syndrome.e-wide linkage analysis of Japaneseith PKCMIM: 128200) generally occurs as a famil-inherited in an autosomal [documents.tips]

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Cloverleaf Skull

dominance with complete penetrance is characteristic, despite variable expressivity. 1 It has been speculated that sporadic cases of Pfeiffer syndrome have been related to [consultant360.com]

Inheritance Inheritance is autosomal dominant with virtually complete penetrance. [emedicine.medscape.com]

[…] embryonic development and are more frequently the cause of Pfeiffer syndrome. 3 More than 40 different mutations in FGFR2 have been identified as causing Pfeiffer syndrome. 3 Autosomal [consultant360.com]

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Marfan Syndrome

The pattern of transmission is autosomal dominant with complete penetrance. There are over 1,000 genetic mutations, almost all unique to an affected family. [patient.info]

Table 1 Simplified revised Ghent criteria Table 2 Scoring of systemic features Genetic basis and pathogenesis MFS is an autosomal dominant condition exhibiting complete penetrance [jcmr-online.biomedcentral.com]

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Spinal Osteochondrosis

Analysis of the mode of inheritance in a sample of 90 pedigrees derived from the Siberian population supported an autosomal dominant mode of inheritance with complete penetrance [orpha.net]

ORPHA:3135 Classification level: Disorder Synonym(s): Familial Scheuermann juvenile kyphosis Familial spinal osteochondrosis Prevalence: - Inheritance: Autosomal dominant [orpha.net]

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Tietz Syndrome

Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion. [ncbi.nlm.nih.gov]

Abstract Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion. [ncbi.nlm.nih.gov]

autosomal dominant fashion. [dx.doi.org]

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