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.[doi.org]
Subtle variations in one of these genes may also cause some forms of "essential" hypertension.[web.archive.org]
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]
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]
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]
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]
Diabetes Mellitus Type 2
[…] 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 (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]
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]
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]
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]
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]