Autosomal Dominant: Causes & Reasons

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Possible Causes for Autosomal Dominant

Erythropoietic Protoporphyria

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 (EPP) is an autosomal dominant disorder of heme synthesis, causing excess of protoporphyrin in blood, skin, liver, and other organs. [ncbi.nlm.nih.gov]

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 (FH) is an inherited disorder of lipoprotein metabolism, transmitted in an autosomal dominant manner and clinically characterized by elevated [clinicaltrials.gov]

These OMIM entries discusses various forms of FH: OMIM_143890, Autosomal dominant hypercholesterolemia OMIM_144010, Autosomal dominant hypercholesterolemia, type B OMIM_603813 [snpedia.com]

Ichthyosis Vulgaris

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]

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

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 [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]

Familial Hypercholesterolaemia is an autosomal dominant disorder. This means you only have to have one copy of the altered gene to have the condition. [fheurope.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 (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 disorder responsible for 2 to 3% of cases of colorectal cancer (CRC). [merckmanuals.com]

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]

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]

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]

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]

Congenital Central Hypoventilation 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]

Disorder Synonym(s): CCHS Central congenital hypoventilation syndrome Congenital central alveolar hypoventilation syndrome Ondine curse Prevalence: Unknown Inheritance: Autosomal [orpha.net]

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]

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

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]

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]

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]

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]

Abstract: Hereditary leiomyomatosis and renal cell cancer (HLRCC) (MIM 605839) is a recently identified autosomal dominant tumor susceptibility syndrome characterized by predisposition [eurekaselect.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 Familial Infantile Epilepsy Type 4

The mode of inheritance of BFIS usually is autosomal dominant, reduced penetrance has been reported. [molgen.ua.ac.be]

Benign infantile epilepsy with autosomal dominant inheritance. Brain Dev. 16: 108-111, 1994. [omim.org]

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

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]

PATIENTS: Five French families with GEFS(+) and at least 7 available affected members with autosomal dominant transmission. [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]

Part B… 2015 Familial cortical myoclonic tremor with epilepsy (FCMTE) is an autosomal dominant epilepsy syndrome. Four loci, including 8q24… (More) [semanticscholar.org]

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]

Benign familial neonatal-infantile seizure disorder (BFNIS) with onset around 3 months is an intermediate variant of autosomal dominant benign epilepsies in the first year [pediatricneurologybriefs.com]

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 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 Familial medullary thyroid carcinoma (FMTC) is an autosomal dominant inherited disease that has highly characteristic clinical features, including medullary thyroid [ncbi.nlm.nih.gov]

Familial Papillary Thyroid Carcinoma with Papillary Renal Cell Carcinoma

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

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

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]

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]

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]

dominant limb-girdle muscular dystrophy type 1C Rippling muscle disease Romano-Ward syndrome Alström syndrome Amyotrophic lateral sclerosis Autosomal dominant Charcot-Marie-Tooth [csbg.cnb.csic.es]

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]

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]

One way is called autosomal dominant inheritance. What is autosomal dominant inheritance? [stanfordchildrens.org]

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]

Catecholaminergic Polymorphic Ventricular Tachycardia Type 5

The two genes linked to CPVT include the cardiac ryanodine receptor (autosomal dominant) and the calsequestrin 2 protein gene. [healio.com]

When CPVT results from mutations in the RYR2 gene, it has an autosomal dominant pattern of inheritance. [ghr.nlm.nih.gov]

dominant, autosomal recessive Catecholamine-induced polymorphic ventricular tachycardia (CPVT) is a pathological disorder triggered by intense physical exercise or acute [centogene.com]