See for an Autosomal Dominant Form Causes & Reasons

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See for an Autosomal Dominant Form Symptom Checker: Possible causes include Cystitis. 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

Cystitis

Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, 607634). [ncbi.nlm.nih.gov]

A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; 259730) is caused by mutation in the CA2 gene (611492) on chromosome 8q21. [ncbi.nlm.nih.gov]

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Essential Hypertension

For a review of the mutations that cause a decrease in BP, see Lifton. 13 Glucocorticoid-Remediable Aldosteronism This is an autosomal dominant form of monogenic hypertension [doi.org]

Subtle variations in one of these genes may also cause some forms of “essential” hypertension. [doi.org]

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Hypertension

For a review of the mutations that cause a decrease in BP, see Lifton. 13 Glucocorticoid-Remediable Aldosteronism This is an autosomal dominant form of monogenic hypertension [web.archive.org]

Subtle variations in one of these genes may also cause some forms of “essential” hypertension. [circ.ahajournals.org]

Subtle variations in one of these genes may also cause some forms of "essential" hypertension. [web.archive.org]

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Actinic Keratosis

(See Atlas 3, Part F). keratosis follicula ris a slowly progressive autosomal dominant disorder of keratinization characterized by pinkish to tan or skin-colored papules on [medical-dictionary.thefreedictionary.com]

[…] the seborrheic areas of the body that coalesce to form plaques, which may become crusted and secondarily infected; over time, the lesions may become darker and may fuse to [medical-dictionary.thefreedictionary.com]

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Cystocele

Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, 607634). [ncbi.nlm.nih.gov]

A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; 259730) is caused by mutation in the CA2 gene (611492) on chromosome 8q21. [ncbi.nlm.nih.gov]

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Diabetes Mellitus

[…] most common cause of PNDM Birth to 6 months Autosomal dominant Spontaneous Yes Transient (This gene also causes a permanent form of NDM; see PNDM section ) Oral sulfonylureas [web.archive.org]

dominant Spontaneous Varies Transient (This gene also causes a permanent form of NDM; see PNDM section ) Oral sulfonylureas TNDM KCNJ11 Kir6.2 Uncommon cause of TNDM but [web.archive.org]

*** Treatment PNDM KCNJ11 Kir6.2 Most common type of PNDM 3 to 6 months Autosomal dominant (10%) Spontaneous Yes Permanent (This gene also causes a transient form of NDM; [web.archive.org]

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Hyperkalemia

Genetic Testing Please see the following link for Genetic Testing In terms of genetic counseling, the disease is autosomal dominant. [periodicparalysis.org]

It does not differentiate, however, between the primary and secondary forms of periodic paralysis. [periodicparalysis.org]

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Acidosis

Hereditary dRTA subtypes include autosomal dominant (AD) and autosomal recessive (AR) dRTA (see these terms). [orpha.net]

AR forms are frequently diagnosed in infants and young children. AD dRTA is mostly diagnosed in adolescents and young adults. [orpha.net]

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Diabetes Mellitus Type 2

dominant (10%) Spontaneous Yes Permanent (This gene also causes a transient form of NDM; see TNDM section ) Treated with insulin in the past but often can be treated with [web.archive.org]

dominant Spontaneous Varies Transient (This gene also causes a permanent form of NDM; see PNDM section ) Oral sulfonylureas TNDM KCNJ11 Kir6.2 Uncommon cause of TNDM but [web.archive.org]

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Growth Failure

In addition, there is an autosomal dominant (IGHD II, OMIM 173100) and an X-linked form of IGHD (IGHD III, OMIM# 307200)(see table 1). [analesdepediatria.org]

IGHD IA: The most severe form of IGHD, called IGHD IA, (OMIM 262400 and139250) has an autosomal recessive mode of inheritance. [analesdepediatria.org]

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Stroke

Ehlers-Danlos vascular type is caused by mutations in the COL3A1 gene; it is inherited in an autosomal dominant manner. [emedicine.com]

See Genetic and Inflammatory Mechanisms in Stroke, as well as Blood Dyscrasias and Stroke. [emedicine.com]

In the absence of a suggestive family history, it is difficult to separate Ehlers-Danlos vascular type from other forms of Ehlers-Danlos. [emedicine.com]

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Medial Sclerosis

A unique locus for an autosomal dominant form of adult-onset PLS in a large French-Canadian family was mapped to chromosome 4ptel-4p16.1. [emedicine.medscape.com]

[…] activity of members of the Ras superfamily of GTPases." [6] At least 10 deletion mutations and 1 missense mutation of the alsin gene have been shown to cause JPLS. [6] (See [emedicine.medscape.com]

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Autosomal Dominant Optic Atrophy and Cataract

is a form of autosomal dominant optic atrophy (ADOA; see this term) characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity [orpha.net]

Orpha Number: 67036 Disease definition Autosomal dominant optic atrophy and cataract (ADOAC) is a form of autosomal dominant optic atrophy (ADOA; see this term) characterized [rarediseases.info.nih.gov]

Homepage Rare diseases Search Search for a rare disease Autosomal dominant optic atrophy and cataract Disease definition Autosomal dominant optic atrophy and cataract (ADOAC [orpha.net]

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Lynch Syndrome

It is inherited as an autosomal dominant syndrome (see the image below), as a result of defective mismatch repair (MMR) proteins. [emedicine.medscape.com]

Background Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common form of hereditary colorectal cancer. [emedicine.medscape.com]

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Pityriasis Circinata

dominant form(s); genetic heterogeneity Sulzberger–Garbe syndrome (also known as "Oid-oid disease") is a cutaneous condition, a type of therapy resistant nummular eczema. [findzebra.com]

See also Id reaction List of cutaneous conditions Id reactions (also known as "Disseminated eczema," and "Generalized eczema") present with a variety of infectious disorders [findzebra.com]

Thoracolumbar kyphoscoliosis Joints: Loose-jointedness Vascular: Dissecting aortic aneurysm Lab: Cystic medial necrosis of the aorta; Myxomatous valvular degeneration Inheritance: Autosomal [findzebra.com]

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Biliary Carcinoma

Rare autosomal dominant forms have also been described (dominant beta-thalassemia; see this term). [orpha.net]

[…] or less frequently BT-major, HbC - beta-thalassemia, delta-beta-thalassemia and hereditary persistence of fetal Hb with BT resulting in inconstant manifestations of BTI; see [orpha.net]

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Heart Block

Genetic counseling Transmission is autosomal dominant with incomplete penetrance and variable expressivity. Recessive or sporadic forms are rare. [orpha.net]

Differential diagnosis The differential diagnosis includes Brugada syndrome, idiopathic ventricular fibrillation, long QT syndrome (see these terms), lupus neonatal, progressive [orpha.net]

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X-linked Parkinsonism-Spasticity Syndrome

In perhaps half of these cases of nonspecific dementia, there is a positive family history of dementia, with an apparent autosomal dominant mode of inheritance.See also frontotemporal [mendelian.co]

{104300}) or other forms of dementia. [mendelian.co]

3-LINKED; FTD3 A substantial minority of degenerative dementias, perhaps 10%, lack the distinctive pathologic features that allow subclassification as Alzheimer disease (see [mendelian.co]

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Coxa Vara

Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, 607634). [ncbi.nlm.nih.gov]

A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; 259730) is caused by mutation in the CA2 gene (611492) on chromosome 8q21. [ncbi.nlm.nih.gov]

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Lumbar Spondylosis

It is inherited as an autosomal dominant syndrome (see the image below), as a result of defective mismatch repair (MMR) proteins. [emedicine.medscape.com]

Background Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common form of hereditary colorectal cancer. [emedicine.medscape.com]

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Hemorrhagic Stroke

Ehlers-Danlos vascular type is caused by mutations in the COL3A1 gene; it is inherited in an autosomal dominant manner. [emedicine.medscape.com]

See Genetic and Inflammatory Mechanisms in Stroke, as well as Blood Dyscrasias and Stroke. [emedicine.medscape.com]

In the absence of a suggestive family history, it is difficult to separate Ehlers-Danlos vascular type from other forms of Ehlers-Danlos. [emedicine.medscape.com]

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Muscular Dystrophy

Heritable MDs include the following: Autosomal dominant MDs - Facioscapulohumeral, distal, ocular, oculopharyngeal Autosomal recessive MD – Limb-girdle form Genetic defects [emedicine.com]

Within each group of heritable MDs (see below), several disorders exist. These are characterized by the clinical presentation and pathology. [emedicine.com]

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Chromophobe Renal Cell Carcinoma

(childhood) form, autosomal-dominant (adult) form, medullary sponge kidney, medulary cystic disease see also: Potter syndrome (12 Dec 1998) congenital renal osteodystrophy [kmle.co.kr]

[…] life-threatening metabolic derangement. (27 Sep 1997) congenital renal cysts Congenital solitary cyst, multilocular cyst, multicystic disease (renal dysplasia), polycystic disease, autosomal-recessive [kmle.co.kr]

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Duchenne Muscular Dystrophy

[…] recessive or autosomal dominant form of inheritance. [emedicine.medscape.com]

Heritable MDs include the following: Autosomal dominant MDs - Facioscapulohumeral, distal, ocular, oculopharyngeal Autosomal recessive MD – Limb-girdle form Genetic defects [emedicine.medscape.com]

See image below. Dystrophin-glycoprotein complex bridges the inner cytoskeleton (F-actin) and the basal lamina. [emedicine.medscape.com]

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Primary Lateral Sclerosis

A unique locus for an autosomal dominant form of adult-onset PLS in a large French-Canadian family was mapped to chromosome 4ptel-4p16.1. [emedicine.com]

[…] activity of members of the Ras superfamily of GTPases." [6] At least 10 deletion mutations and 1 missense mutation of the alsin gene have been shown to cause JPLS. [6] (See [emedicine.com]

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Dilated Cardiomyopathy Type 2B

Heart-hand syndrome, Slovenian type MedGen UID: 341859 •Concept ID: C1857829 • Disease or Syndrome A rare autosomal dominant form of heart-hand syndrome, first described in [ncbi.nlm.nih.gov]

For a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950). [ncbi.nlm.nih.gov]

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Non-Syndromic Ocular Stickler Syndrome Type 1

The inheritance pattern is autosomal dominant. This form is now considered the same disorder as heterozygous oto-spondylo-megaepiphyseal dysplasia (OSMED). [rarediseases.org]

For more information on heterozygous OSMED see the NORD report on this disorder. [rarediseases.org]

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Mitral Valve Prolapse

There may be other genetic forms.[6, 7] Presentation[2] See also the separate Heart Auscultation article. [patient.info]

The most common form of inheritance is autosomal dominant, but X-linked inheritance has been described. [emedicine.medscape.com]

Genetic factors - there is probably a familial, autosomal dominant condition with variable penetrance and variable clinical presentation. [patient.info]

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Multi-Infarct Dementia

Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of hereditary cerebral angiopathy [emedicine.medscape.com]

see image below). [emedicine.medscape.com]

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Mitral Valve Disease

The most common form of inheritance is autosomal dominant, but X-linked inheritance has been described. [emedicine.medscape.com]

Also see Presentation. [emedicine.medscape.com]

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