Autosomal Dominant with Complete Penetrance Causes & Reasons

Neu starten

Ad Html Headline Ad Text Headline

Ad Label Ad Html Description Ad Text Description

Determine your risk of now. Restart test

Caution! In case of an emergency:

Seek emergency care

Caution! In case of an emergency: Seek emergency care

Hi, I'm Symptoma.

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.

For full functionality of this site it is necessary to enable JavaScript.

How to enable JavaScript?

Patient File

Sex unknown, Age unknown

Reported Symptoms

Autosomal Dominant with Complete Penetrance,

Negated

None

Unsure

None

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]

Show info

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]

Show info

Exostosis

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

Show info

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]

Show info

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]

Show info

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]

Show info

Calcium Pyrophosphate Arthropathy

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

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

Ichthyosis Vulgaris

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

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

Lamellar Cataract

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

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

⚕ Symptoma®️ is a digital health assistant but no replacement for the opinion and judgement of medical professionals. By using this website you fully understand and accept that it shall not be used as a diagnostic system for decision-making. It absolutely must not be used to obtain, replace or overrule a clinical diagnosis by a healthcare professional. It is always for the medical professional to make the final diagnosis. The medical information provided on this website is of a general nature and can not substitute for the advice of a medical professional (for example, a qualified doctor or physician)! Information from the internet could and should NOT be solely used to offer or render a medical opinion or otherwise engage in the practice of medicine.

[v-cloak]:not(.noscript-hide) { display: block; }