Autosomal Dominant Causes & Reasons

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

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Autosomal Dominant,

Negated

None

Unsure

None

Possible Causes

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]

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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]

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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]

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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]

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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]

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Lynch Syndrome

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]

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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]

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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]

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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]

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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]

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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]

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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]

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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]

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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]

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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]

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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]

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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]

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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]

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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]

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X-linked Parkinsonism-Spasticity Syndrome

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]

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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]

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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]

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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]

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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]

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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]

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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]

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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]

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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]

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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]

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Familial Ventricular Tachycardia

Arrhythmogenic right ventricular dysplasia is transmitted in an autosomal dominant or autosomal recessive manner and is caused by abnormalities of chromosomes 14, 12, 10, [symptoma.com]

Heritability: Autosomal dominant inheritance AKA: ventricular tachycardia, familial polymorphic, ventricular tachycardia, familial, hereditary ventricular tachycardia, familial [monarchinitiative.org]

CPVT is inherited as an autosomal dominant or autosomal recessive trait, usually with high penetrance. [tandfonline.com]

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