Autosomal Dominant: Causes & Reasons

Possible Causes for Autosomal Dominant

The boundary between autosomal dominant and autosomal recessive inheritance may not always be distinct. [ncbi.nlm.nih.gov]

dominant inheritance. erythropoietic protoporphyria (EPP) an autosomal-dominant disorder, a form of erythropoietic porphyria, characterized by increased levels of protoporphyrin [medical-dictionary.thefreedictionary.com]

Erythropoietic protoporphyria is inherited as an autosomal dominant genetic trait. Erythropoietic protoporphyria is one of a group of disorders known as the porphyrias. [dermis.net]

Myotonia permanens

Case Reports Autosomal dominant monosymptomatic myotonia permanens Eskild Colding-Jørgensen et al. Neurology. 2006. [pubmed.ncbi.nlm.nih.gov]

2,3 Autosomal dominant Autosomal recessive Autosomal dominant Autosomal dominant Autosomal dominant References Stunnenberg B. [unlockndm.eu]

This disease is inherited in the following pattern(s): Description Autosomal dominant inheritance Autosomal means the gene is located on any chromosome except the X or Y chromosomes [rarediseases.info.nih.gov]

Myotonia Levior

[…] myotonia congenita (Thomsen). 57 5 Steinmeyer K...Jentsch TJ 8112288 1994 6 Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). 57 5 George AL.. [malacards.org]

It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. [online-medical-dictionary.org]

2,3 Autosomal dominant Autosomal recessive Autosomal dominant Autosomal dominant Autosomal dominant References Stunnenberg B. [unlockndm.eu]

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]

Familial hypercholesterolemia is inherited in families in an autosomal dominant manner. [genome.gov]

FH is an autosomal dominant disease with a prevalence 1:500 (new study in Netherlands demonstrated 1:244) in population more frequent ... [centerwatch.com]

Ichthyosis Vulgaris

The histology of autosomal dominant ichthyosis vulgaris and X-linked ichthyosis was studied using biopsy material from the arm and leg. [jamanetwork.com]

Autosomal Dominant Ichthyosis Vulgaris. In: The Ichthyoses. [link.springer.com]

This condition is inherited in an autosomal dominant pattern. [monarchinitiative.org]

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 is an autosomal dominant disorder responsible for 2 to 3% of cases of colorectal cancer (CRC). [merckmanuals.com]

Lynch syndrome (hereditary non-polyposis colorectal cancer; HNPCC) is an autosomal dominant cancer predisposition syndrome with high penetrance. [ncbi.nlm.nih.gov]

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

FH can be inherited in a Mendelian fashion in either in an autosomal dominant manner (Autosomal Dominant Hypercholesterolemia) or an autosomal recessive manner (Autosomal [snpedia.com]

Inheriting FH: Understanding Autosomal Dominance The gene mutation that causes FH is autosomal dominant. [thefhfoundation.org]

Abstract Autosomal dominant hypercholesterolaemia is genetically heterogeneous, but most commonly (∼93%) caused by mutations in low-density lipoprotein receptor (LDLR), where [journals.sagepub.com]

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]

Learning points Unilateral nevoid acanthosis nigricans is a rare and benign form of acanthosis nigricans inherited as autosomal dominant. [casereports.bmj.com]

Unilateral acanthosis nigricans Unilateral acanthosis nigricans, sometimes referred to as nevoid acanthosis nigricans, is believed to be inherited as an autosomal dominant [emedicine.com]

Familial Adenomatous Polyposis

Abstract Familial adenomatous polyposis (FAP) is an autosomal dominant disorder characterized by the development of hundreds to thousands of colonic adenomas and an increased [ncbi.nlm.nih.gov]

Abstract Familial adenomatous polyposis (FAP), an autosomal dominant disease, is a colon cancer predisposition syndrome that manifests as a large number of adenomatous polyps [ncbi.nlm.nih.gov]

Familial adenomatous polyposis (FAP) is an autosomal dominant condition affecting nearly 1 in 5000 people and accounts for only about 1% of all CRCs. [ncbi.nlm.nih.gov]

Hypertrophic Cardiomyopathy

This report describes the novel sampling of autosomal dominant polycystic kidney disease (ADPKD) combined with hypertrophic cardiomyopathy (HCM). [ncbi.nlm.nih.gov]

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder characterized by unexplained left ventricular hypertrophy (increased heart muscle thickness), myocyte disarray [brighamandwomens.org]

Autosomal dominant disorders that present in the young with LVH include Noonan's syndrome. [patient.info]

Congenital Central Hypoventilation Syndrome

The mutated PHOX2B protein also interferes with the activity of the normal PHOX2B on the other chromosome. [3] Genetics CCHS can be from autosomal dominant inheritance or [emedicine.medscape.com]

Heritability: Autosomal dominant inheritance AKA: ondine's curse (formerly), congenital ondine curse, congenital central hypoventilation, Cchs with Hirschsprung disease, ondine [monarchinitiative.org]

Inheritance patterns and prenatal diagnosis Inheritance patterns The mutation in the PHOX2B gene is passed to children in an autosomal dominant manner. [contact.org.uk]

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]

So far, genetic CD has been shown to be passed on in either an autosomal dominant, autosomal recessive or in an X-linked manner. [symptoma.com]

Diabetic Autonomic Neuropathy

MalaCards based summary : Osteopetrosis, Autosomal Dominant 1, also known as osteopetrosis autosomal dominant type 1, is related to osteopetrosis, autosomal dominant 2 and [malacards.org]

Autosomal dominant osteopetrosis may be a heterogeneous group of inherited bone disorders. Article History Published in print: 1987 [pubs.rsna.org]

Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive. [malacards.org]

Atypical Pneumonia

Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive. [rarediseases.info.nih.gov]

Clinical Research Resources ClinicalTrials.gov lists trials that are related to Osteopetrosis autosomal dominant type 2. [rarediseases.info.nih.gov]

PubMed is a searchable database of medical literature and lists journal articles that discuss Osteopetrosis autosomal dominant type 2. [rarediseases.info.nih.gov]

Familial Papillary Thyroid Carcinoma with Papillary Renal Cell Carcinoma

The pattern of inheritance is autosomal dominant for EHHADH and GATM, and autosomal recessive for SLC34A1. [orpha.net]

Thyroid tumors: PTC with cribriform pattern 2) Gardner's Syndrome It is autosomal dominant inherited syndrome. [shifrinmd.com]

Genetics Familial polyposis of the colon, Gardner syndrome with the APC gene (5q21), and Cowden syndrome MTC: autosomal dominant with MEN syndrome Medullary: autosomal dominant [unboundmedicine.com]

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]

There are families with autosomal dominant patients and with autosomal recessive and sporadic patients. [emedicine.medscape.com]

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]

Multiple Self-Healing Squamous Epithelioma

AB - Multiple self-healing squamous epithelioma - Ferguson-Smith disease (MSSE) is an autosomal dominant inherited disease with multiple, recurrent, histologically malignant [research.regionh.dk]

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 (MSSE), also known as Ferguson-Smith disease (FSD), is an autosomal-dominant skin cancer condition characterized by multiple [research.ku.dk]

Malignant Neoplasm of the Prostate

Autosomal-dominant inheritance also may occur, as illustrated in the current case report. [mdedge.com]

Furthermore, segregation analyses revealed that this clustering can be best explained by autosomal dominant inheritance of a rare (q = 0.0030) high-risk allele leading to [ncbi.nlm.nih.gov]

KW - Autosomal dominant inheritance KW - Genetic epidemiology KW - Segregation analysis UR - http://www.scopus.com/inward/record.url? [jhu.pure.elsevier.com]

Calcium Pyrophosphate Arthropathy

Epidemiology Autosomal Dominant inheritance and sporadic cases III. Associated Conditions IV. [fpnotebook.com]

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

The genetics of pseudogout include an autosomal dominant pattern that has been described in some populations in which disease begins in early adulthood, progresses rapidly [musculoskeletalkey.com]

Hereditary Leiomyomatosis and Renal Cell Cancer

Abstract: Hereditary leiomyomatosis and renal cell cancer (HLRCC) (MIM 605839) is a recently identified autosomal dominant tumor susceptibility syndrome characterized by predisposition [eurekaselect.com]

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]

Nontoxic Multinodular Goiter

An autosomal dominant form of adolescent multinodular goiter. Am J Hum Genet. 1986 Dec;39(6):811–816. [ncbi.nlm.nih.gov]

Medullary carcinoma can be familial (autosomal dominant), as part of multiple endocrine neoplasia (MEN) type 2A and 2B, or as isolated malignancy. [unboundmedicine.com]

Search Search for a rare disease Familial multinodular goiter ORPHA:276399 Classification level : Disorder Synonym(s): FMNG Familial MNG Prevalence: Unknown Inheritance: Autosomal [orpha.net]

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 Familial Infantile Epilepsy Type 4

SCN1A was initially discovered in GEFS+, an autosomal dominant familial epilepsy syndrome. [epilepsygenetics.net]

Benign Familial Neonatal Seizures (BFNS) are rare, monogenic, autosomal-dominant, benign familial epilepsy syndrome. [genetics.ouhsc.edu]

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]

Generalized Epilepsy with Febrile Seizures Plus

Inheritance is generally autosomal dominant with incomplete penetrance, but this may not be the only situation. [epilepsy.com]

Pedigree analysis indicated autosomal dominant transmission. [neurology.org]

Results: Inheritance was autosomal dominant with a penetrance of about 80%. A variety of epilepsy phenotypes occurred predominantly during childhood. [neurology.org]

Benign Adult Familial Myoclonic Epilepsy

Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME): Probable first family from India. [annalsofian.org]

Striano P, Zara F, Striano S (2005) Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype. [link.springer.com]

Reference work entry DOI: https://doi.org/ 10.1007/978-3-540-29676-8_3235 Synonyms ADCME: autosomal dominant cortical myoclonus and epilepsy; BAFME: benign adult familial [link.springer.com]

Familial Infantile Myoclonic Epilepsy

[…] 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]

dominant 7 EEF1A2 Epileptic encephalopathy, early infantile, 33; Mental retardation, autosomal dominant 38 EFHC1 Epilepsy, juvenile absence, susceptibility to, 1; Myoclonic [asperbio.com]

Progressive Myoclonic Epilepsy Type 7

dominant 7 EEF1A2 Epileptic encephalopathy, early infantile, 33; Mental retardation, autosomal dominant 38 EFHC1 Epilepsy, juvenile absence, susceptibility to, 1; Myoclonic [asperbio.com]

Heritability: Autosomal dominant inheritance Clinical Modifiers: Progressive AKA: progressive myoclonus epilepsy type 7, progressive myoclonic epilepsy due to KV3.1 deficiency [monarchinitiative.org]

dominant cerebellar ataxia Autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia type II Autosomal dominant cerebellar ataxia type III Autosomal [se-atlas.de]

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]

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]

dominant nonsyndromic intellectual deficit Autosomal dominant optic atrophy plus syndrome Autosomal dominant optic atrophy, classic type Autosomal dominant spastic paraplegia [csbg.cnb.csic.es]

dominant nonsyndromic intellectual deficit Rare neurologic disease 6 5 0 Autosomal dominant nonsyndromic intellectual deficit Rare neurologic disease 6 5 0 Autosomal dominant [mousebook.org]